KEGG   Homo sapiens (human): 4897
Entry
4897              CDS       T01001                                 
Symbol
NRCAM, NEDNMS
Name
(RefSeq) neuronal cell adhesion molecule
  KO
K06756  neuronal cell adhesion molecule
Organism
hsa  Homo sapiens (human)
Pathway
hsa04514  Cell adhesion molecules
hsa04517  IgSF CAM signaling
Network
nt06546  IgSF CAM signaling
  Element
N01933  NrCAM interactions
N01935  NFASC interactions
N01936  CNTN1 interactions
N01937  CNTN2 interactions
Disease
H02397  Neurodevelopmental disorder with movement abnormalities or hypotonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04514 Cell adhesion molecules
    4897 (NRCAM)
   04517 IgSF CAM signaling
    4897 (NRCAM)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    4897 (NRCAM)
Cell adhesion molecules [BR:hsa04515]
 Immunoglobulin superfamily
  L1 family
   4897 (NRCAM)
SSDB
Motif
Pfam: Ig_3 I-set fn3 ig Ig_2 Bravo_FIGEY Ig_DSCAM-DSCAML_C Pur_ac_phosph_N Ig_5 Ig_C17orf99 C2-set_2 V-set V-set_CD47 Ig_4 fn3_2 INCA1
Other DBs
NCBI-GeneID: 4897
NCBI-ProteinID: NP_001032209
OMIM: 601581
HGNC: 7994
Ensembl: ENSG00000091129
UniProt: Q92823 Q14CA1
Structure
LinkDB
Position
7:complement(108147649..108456720)
AA seq 1304 aa
MQLKIMPKKKRLSAGRVPLILFLCQMISALEVPLDPKLLEDLVQPPTITQQSPKDYIIDP
RENIVIQCEAKGKPPPSFSWTRNGTHFDIDKDPLVTMKPGTGTLIINIMSEGKAETYEGV
YQCTARNERGAAVSNNIVVRPSRSPLWTKEKLEPITLQSGQSLVLPCRPPIGLPPPIIFW
MDNSFQRLPQSERVSQGLNGDLYFSNVLPEDTREDYICYARFNHTQTIQQKQPISVKVIS
VDELNDTIAANLSDTEFYGAKSSRERPPTFLTPEGNASNKEELRGNVLSLECIAEGLPTP
IIYWAKEDGMLPKNRTVYKNFEKTLQIIHVSEADSGNYQCIAKNALGAIHHTISVRVKAA
PYWITAPQNLVLSPGEDGTLICRANGNPKPRISWLTNGVPIEIAPDDPSRKIDGDTIIFS
NVQERSSAVYQCNASNEYGYLLANAFVNVLAEPPRILTPANTLYQVIANRPALLDCAFFG
SPLPTIEWFKGAKGSALHEDIYVLHENGTLEIPVAQKDSTGTYTCVARNKLGMAKNEVHL
EIKDPTWIVKQPEYAVVQRGSMVSFECKVKHDHTLSLTVLWLKDNRELPSDERFTVDKDH
LVVADVSDDDSGTYTCVANTTLDSVSASAVLSVVAPTPTPAPVYDVPNPPFDLELTDQLD
KSVQLSWTPGDDNNSPITKFIIEYEDAMHKPGLWHHQTEVSGTQTTAQLKLSPYVNYSFR
VMAVNSIGKSLPSEASEQYLTKASEPDKNPTAVEGLGSEPDNLVITWKPLNGFESNGPGL
QYKVSWRQKDGDDEWTSVVVANVSKYIVSGTPTFVPYLIKVQALNDMGFAPEPAVVMGHS
GEDLPMVAPGNVRVNVVNSTLAEVHWDPVPLKSIRGHLQGYRIYYWKTQSSSKRNRRHIE
KKILTFQGSKTHGMLPGLEPFSHYTLNVRVVNGKGEGPASPDRVFNTPEGVPSAPSSLKI
VNPTLDSLTLEWDPPSHPNGILTEYTLKYQPINSTHELGPLVDLKIPANKTRWTLKNLNF
STRYKFYFYAQTSAGSGSQITEEAVTTVDEAGILPPDVGAGKVQAVNPRISNLTAAAAET
YANISWEYEGPEHVNFYVEYGVAGSKEEWRKEIVNGSRSFFGLKGLMPGTAYKVRVGAVG
DSGFVSSEDVFETGPAMASRQVDIATQGWFIGLMCAVALLILILLIVCFIRRNKGGKYPV
KEKEDAHADPEIQPMKEDDGTFGEYSDAEDHKPLKKGSRTPSDRTVKKEDSDDSLVDYGE
GVNGQFNEDGSFIGQYSGKKEKEPAEGNESSEAPSPVNAMNSFV
NT seq 3915 nt   +upstreamnt  +downstreamnt
atgcagcttaaaataatgccgaaaaagaagcgcttatctgcgggcagagtgcccctgatt
ctcttcctgtgccagatgattagtgcactggaagtacctcttgatccaaaacttcttgaa
gacttggtacagcctccaaccatcacccaacagtctccaaaagattacattattgaccct
cgggagaatattgtaatccagtgtgaagccaaagggaaaccgcccccaagcttttcctgg
acccgtaatgggactcattttgacatcgataaagaccctctggtcaccatgaagcctggc
acaggaacgctcataattaacatcatgagcgaagggaaagctgagacctatgaaggagtc
tatcagtgtacagcaaggaacgaacgcggagctgcagtttctaataacattgttgtccgc
ccatccagatcaccattgtggaccaaagaaaaacttgaaccaatcacacttcaaagtggt
cagtctttagtacttccctgcagacccccaattggattaccaccacctataatattttgg
atggataattcctttcaaagacttccacaaagtgagagagtttctcaaggtttgaatggg
gacctttatttttccaatgtcctcccagaggacacccgcgaagactatatctgttatgct
agatttaatcatactcaaaccatacagcagaagcaacctatttctgtgaaggtgatttca
gtggatgaattgaatgacactatagctgctaatttgagtgacactgagttttatggtgct
aaatcaagtagagagaggccaccaacatttttaactccagaaggcaatgcaagtaacaaa
gaggaattaagaggaaatgtgctttcactggagtgcattgcagaaggactgcctacccca
attatttactgggcaaaggaagatggaatgctacccaaaaacaggacagtttataagaac
tttgagaaaaccttgcagatcattcatgtttcagaagcagactctggaaattaccaatgt
atagcaaaaaacgcattaggagccatccaccataccatttctgttagagttaaagcggct
ccatactggatcacagcccctcaaaatcttgtgctgtccccaggagaggatgggaccttg
atctgcagagctaatggcaaccccaaacccagaattagctggttaacaaatggagtccca
atagaaattgcccctgatgaccccagcagaaaaatagatggcgataccattattttttca
aatgttcaagaaagatcaagtgcagtctatcagtgcaatgcctctaatgaatatggatat
ttactggcaaacgcatttgtaaatgtgctggctgagccaccacgaatcctcacacctgca
aacacactctaccaggtcattgcaaacaggcctgctttactagactgtgccttctttggg
tctcctctcccaaccatcgagtggtttaaaggagctaaaggaagtgctcttcatgaagat
atttatgttttacatgaaaatggaactttggaaattcctgtggcccaaaaggacagtaca
ggaacttatacgtgtgttgcaaggaataaattagggatggcgaagaatgaagttcactta
gaaatcaaagatcctacatggatcgttaaacagcccgaatatgcagttgtgcaaagaggg
agcatggtgtcctttgaatgcaaagtgaaacatgatcacaccttatccctcactgtcctg
tggctgaaggacaacagggaactgcccagtgatgaaaggttcactgttgacaaggatcat
ctagtggtagctgatgtcagtgacgatgacagcgggacctacacgtgtgtggccaacacc
actctggacagcgtctccgccagcgctgtgcttagcgttgttgctcctactccaactcca
gctcccgtttacgatgtcccaaatcctccctttgacttagaactgacagatcaacttgac
aaaagtgttcagctgtcatggaccccaggcgatgacaacaatagccccattacaaaattc
atcatcgaatatgaagatgcaatgcacaagccagggctgtggcaccaccaaactgaagtt
tctggaacacagaccacagcccagctgaagctgtctccttacgtgaactactccttccgc
gtgatggcagtgaacagcattgggaagagcttgcccagcgaggcgtctgagcagtatttg
acgaaagcctcagaaccagataaaaaccccacagctgtggaaggactgggatcagagcct
gataatttggtgattacgtggaagcccttgaatggtttcgaatctaatgggccaggcctt
cagtacaaagttagctggcgccagaaagatggtgatgatgaatggacatctgtggttgtg
gcaaatgtatccaaatatattgtctcaggcacgccaacctttgttccatacctgatcaaa
gttcaggccctgaatgacatggggtttgcccccgagccagctgtagtcatgggacattct
ggagaagacctcccaatggtggctcctgggaacgtgcgtgtgaatgtggtgaacagtacc
ttagccgaggtgcactgggacccagtacctctgaaaagcatccgaggacacctacaaggc
tatcggatttactattggaagacccagagttcatctaaaagaaacagacgtcacattgag
aaaaagatcctcaccttccaaggcagcaagactcatggcatgttgccggggctagagccc
tttagccactacacactgaatgtccgagtggtcaatgggaaaggggagggcccagccagc
cctgacagagtctttaatactccagaaggagtccccagtgctccctcgtctttgaagatt
gtgaatccaacactggactctctcactttggaatgggatccaccgagccacccgaatggc
attttgacagagtacaccttaaagtatcagccaattaacagcacacatgaattaggccct
ctggtagatttgaaaattcctgccaacaagacacggtggactttaaaaaatttaaatttc
agcactcgatataagttttatttctatgcacaaacatcagcaggatcaggaagtcaaatt
acagaggaagcagtaacaactgtggatgaagctggtattcttccacctgatgtaggtgca
ggcaaagttcaagcagtaaatcccaggatcagcaatcttactgctgcagctgctgagacc
tatgccaatatcagttgggaatatgagggaccagagcatgtgaacttttatgttgaatat
ggtgtagcaggcagcaaagaagaatggagaaaagaaattgtaaatggttctcggagcttc
tttgggttaaagggtctaatgccaggaacagcatacaaagttcgagttggtgctgtgggg
gactctggttttgtgagttcagaggatgtgtttgagacaggcccagcgatggcaagccgg
caggtggatattgcaactcagggctggttcattggtctgatgtgtgctgttgctctcctt
atcttaattttgctgattgtttgcttcatcagaagaaacaagggtggtaaatatccagtt
aaagaaaaggaagatgcccatgctgaccctgaaatccagcctatgaaggaagatgatggg
acatttggagaatacagtgatgcagaagaccacaagcctttgaaaaaaggaagtcgaact
ccttcagacaggactgtgaaaaaagaagatagtgacgacagcctagttgactatggagaa
ggggttaatggccagttcaatgaggatggctcctttattggacaatacagtggtaagaaa
gagaaagagccggctgaaggaaacgaaagctcagaggcaccttctcctgtcaacgccatg
aattcctttgtttaa

KEGG   Homo sapiens (human): 23114
Entry
23114             CDS       T01001                                 
Symbol
NFASC, NEDCPMD, NF, NRCAML
Name
(RefSeq) neurofascin
  KO
K06757  neurofascin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04514  Cell adhesion molecules
hsa04517  IgSF CAM signaling
Network
nt06541  Cytoskeleton in neurons
nt06546  IgSF CAM signaling
  Element
N01848  Membrane-associated periodic skeleton (MPS)
N01933  NrCAM interactions
N01935  NFASC interactions
N01936  CNTN1 interactions
Disease
H02990  Neurodevelopmental disorder with central and peripheral motor dysfunction
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04514 Cell adhesion molecules
    23114 (NFASC)
   04517 IgSF CAM signaling
    23114 (NFASC)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    23114 (NFASC)
Cell adhesion molecules [BR:hsa04515]
 Immunoglobulin superfamily
  L1 family
   23114 (NFASC)
SSDB
Motif
Pfam: Ig_3 I-set Ig_2 fn3 ig Bravo_FIGEY V-set Ig_DSCAM-DSCAML_C Ig_5 C2-set_2 V-set_CD47 Ig_VEGFR-1-like_5th BiPBP_C DUF4998
Other DBs
NCBI-GeneID: 23114
NCBI-ProteinID: NP_001365258
OMIM: 609145
HGNC: 29866
Ensembl: ENSG00000163531
UniProt: O94856
Structure
LinkDB
Position
1:204828652..205022822
AA seq 1347 aa
MARQPPPPWVHAAFLLCLLSLGGAIEIPMDPSIQNELTQPPTITKQSAKDHIVDPRDNIL
IECEAKGNPAPSFHWTRNSRFFNIAKDPRVSMRRRSGTLVIDFRSGGRPEEYEGEYQCFA
RNKFGTALSNRIRLQVSKSPLWPKENLDPVVVQEGAPLTLQCNPPPGLPSPVIFWMSSSM
EPITQDKRVSQGHNGDLYFSNVMLQDMQTDYSCNARFHFTHTIQQKNPFTLKVLTTRGVA
ERTPSFMYPQGTASSQMVLRGMDLLLECIASGVPTPDIAWYKKGGDLPSDKAKFENFNKA
LRITNVSEEDSGEYFCLASNKMGSIRHTISVRVKAAPYWLDEPKNLILAPGEDGRLVCRA
NGNPKPTVQWMVNGEPLQSAPPNPNREVAGDTIIFRDTQISSRAVYQCNTSNEHGYLLAN
AFVSVLDVPPRMLSPRNQLIRVILYNRTRLDCPFFGSPIPTLRWFKNGQGSNLDGGNYHV
YENGSLEIKMIRKEDQGIYTCVATNILGKAENQVRLEVKDPTRIYRMPEDQVARRGTTVQ
LECRVKHDPSLKLTVSWLKDDEPLYIGNRMKKEDDSLTIFGVAERDQGSYTCVASTELDQ
DLAKAYLTVLADQATPTNRLAALPKGRPDRPRDLELTDLAERSVRLTWIPGDANNSPITD
YVVQFEEDQFQPGVWHDHSKYPGSVNSAVLRLSPYVNYQFRVIAINEVGSSHPSLPSERY
RTSGAPPESNPGDVKGEGTRKNNMEITWTPMNATSAFGPNLRYIVKWRRRETREAWNNVT
VWGSRYVVGQTPVYVPYEIRVQAENDFGKGPEPESVIGYSGEDYPRAAPTEVKVRVMNST
AISLQWNRVYSDTVQGQLREYRAYYWRESSLLKNLWVSQKRQQASFPGDRLRGVVSRLFP
YSNYKLEMVVVNGRGDGPRSETKEFTTPEGVPSAPRRFRVRQPNLETINLEWDHPEHPNG
IMIGYTLKYVAFNGTKVGKQIVENFSPNQTKFTVQRTDPVSRYRFTLSARTQVGSGEAVT
EESPAPPNEATPTAAPPTLPPTTVGATGAVSSTDATAIAATTEATTVPIIPTVAPTTIAT
TTTVATTTTTTAAATTTTESPPTTTSGTKIHESAPDEQSIWNVTVLPNSKWANITWKHNF
GPGTDFVVEYIDSNHTKKTVPVKAQAQPIQLTDLYPGMTYTLRVYSRDNEGISSTVITFM
TSTAYTNNQADIATQGWFIGLMCAIALLVLILLIVCFIKRSRGGKYPVREKKDVPLGPED
PKEEDGSFDYSDEDNKPLQGSQTSLDGTIKQQESDDSLVDYGEGGEGQFNEDGSFIGQYT
VKKDKEETEGNESSEATSPVNAIYSLA
NT seq 4044 nt   +upstreamnt  +downstreamnt
atggccaggcagccaccgccgccctgggtccatgcagccttcctcctctgcctcctcagt
cttggcggagccatcgaaattcctatggatccaagcattcagaatgagctgacgcagccg
ccaaccatcaccaagcagtcagcgaaggatcacatcgtggacccccgtgataacatcctg
attgagtgtgaagcaaaagggaaccctgcccccagcttccactggacacgaaacagcaga
ttcttcaacatcgccaaggacccccgggtgtccatgaggaggaggtctgggaccctggtg
attgacttccgcagtggcgggcggccggaggaatatgagggggaatatcagtgcttcgcc
cgcaacaaatttggcacggccctgtccaataggatccgcctgcaggtgtctaaatctcct
ctgtggcccaaggaaaacctagaccctgtcgtggtccaagagggcgctcctttgacgctc
cagtgcaaccccccgcctggacttccatccccggtcatcttctggatgagcagctccatg
gagcccatcacccaagacaaacgtgtctctcagggccataacggagacctatacttctcc
aacgtgatgctgcaggacatgcagaccgactacagttgtaacgcccgcttccacttcacc
cacaccatccagcagaagaaccctttcaccctcaaggtcctcaccacccgaggagttgca
gaaagaacaccaagcttcatgtatccccagggcaccgcgagcagccagatggtgcttcgt
ggcatggacctcctgctggaatgcatcgcctccggggtcccaacaccagacatcgcatgg
tacaagaaaggtggggacctcccatctgataaggccaagtttgagaactttaataaggcc
ctgcgtatcacaaatgtctctgaggaagactccggggagtatttctgcctggcctccaac
aagatgggcagcatccggcacacgatctcggtgagagtaaaggctgctccctactggctg
gacgaacccaagaaccttattctggctcctggcgaggatgggagactggtgtgtcgagcc
aatggaaaccccaaacccactgtccagtggatggtgaatggggaacctttgcaatcggca
ccacctaacccaaaccgtgaggtggccggagacaccatcatcttccgggacacccagatc
agcagcagggctgtgtaccagtgcaacacctccaacgagcatggctacctgctggccaac
gcctttgtcagtgtgctggatgtgccgcctcggatgctgtcgccccggaaccagctcatt
cgagtgattctttacaaccggacgcggctggactgccctttctttgggtctcccatcccc
acactgcgatggtttaagaatgggcaaggaagcaacctggatggtggcaactaccatgtt
tatgagaacggcagtctggaaattaagatgatccgcaaagaggaccagggcatctacacc
tgtgtcgccaccaacatcctgggcaaagctgaaaaccaagtccgcctggaggtcaaagac
cccaccaggatctaccggatgcccgaggaccaggtggccagaaggggcaccacggtgcag
ctggagtgtcgggtgaagcacgacccctccctgaaactcaccgtctcctggctgaaggat
gacgagccgctctatattggaaacaggatgaagaaggaagacgactccctgaccatcttt
ggggtggcagagcgggaccagggcagttacacgtgtgtcgccagcaccgagctagaccaa
gacctggccaaggcctacctcaccgtgctagctgatcaggccactccaactaaccgtttg
gctgccctgcccaaaggacggccagaccggccccgggacctggagctgaccgacctggcc
gagaggagcgtgcggctgacctggatccccggggatgctaacaacagccccatcacagac
tacgtcgtccagtttgaagaagaccagttccaacctggggtctggcatgaccattccaag
taccccggcagcgttaactcagccgtcctccggctgtccccgtatgtcaactaccagttc
cgtgtcattgccatcaacgaggttgggagcagccaccccagcctcccatccgagcgctac
cgaaccagtggagcaccccccgagtccaatcctggtgacgtgaagggagaggggaccaga
aagaacaacatggagatcacgtggacgcccatgaatgccacctcggcctttggccccaac
ctgcgctacattgtcaagtggaggcggagagagactcgagaggcctggaacaacgtcaca
gtgtggggctctcgctacgtggtggggcagaccccagtctacgtgccctatgagatccga
gtccaggctgaaaatgacttcgggaagggccctgagccagagtccgtcatcggttactcc
ggagaagattatcccagggctgcgcccactgaagttaaagtccgagtcatgaacagcaca
gccatcagccttcagtggaaccgcgtctactccgacacggtccagggccagctcagagag
taccgagcctactactggagggagagcagcttgctgaagaacctgtgggtgtctcagaag
agacagcaagccagcttccctggtgaccgcctccgtggcgtggtgtcccgcctcttcccc
tacagtaactacaagctggagatggttgtggtcaatgggagaggtgatgggcctcgcagt
gagaccaaggagttcaccaccccggaaggagtacccagtgcccctaggcgtttccgagtc
cggcagcccaacctggagacaatcaacctggaatgggatcatcctgagcatccaaatggg
atcatgattggatacactctcaaatatgtggcctttaacgggaccaaagtaggaaagcag
atagtggaaaacttctctcccaatcagaccaagttcacggtgcaaagaacggaccccgtg
tcacgctaccgctttaccctcagcgccaggacgcaggtgggctctggggaagccgtcaca
gaggagtcaccagcacccccgaatgaagctactccaaccgcagctcctcccacattgccc
ccgactaccgtgggtgcgacgggcgctgtgagcagtaccgatgctactgccattgctgcc
accaccgaagccacaacagtccccatcatcccaactgtcgcacctaccaccatcgccacc
accaccaccgtcgccacaactactacaaccactgctgccgccaccaccaccacggagagt
cctcccaccaccacctccgggactaagatacacgaatccgcccctgatgagcagtccata
tggaacgtcacggtgctccccaacagtaaatgggccaacatcacctggaagcacaatttc
gggcccggaactgactttgtggttgagtacatcgacagcaaccatacgaaaaaaactgtc
ccagttaaggcccaggctcagcctatacagctgacagacctctatcccgggatgacatac
acgttgcgggtttattcccgggacaacgagggcatcagcagtaccgtcatcacctttatg
accagtacagcttacaccaacaaccaagcggacatcgccacccagggctggttcattggg
cttatgtgcgccatcgccctcctggtgctgatcctgctcatcgtctgtttcatcaagagg
agtcgcggcggcaagtacccagtacgagaaaagaaggatgttccccttggccctgaagac
cccaaggaagaggatggctcatttgactatagtgatgaggacaacaagcccctgcagggc
agtcagacatctctggacggcaccatcaagcagcaggagagtgacgacagcctggtggac
tatggcgagggtggcgagggtcagttcaatgaagacggctccttcatcggccagtacacg
gtcaaaaaggacaaggaggaaacagagggcaacgaaagctcagaggccacgtcacctgtc
aatgctatctactctctggcctaa

KEGG   Homo sapiens (human): 1272
Entry
1272              CDS       T01001                                 
Symbol
CNTN1, CMYO12, CMYP12, F3, GP135, MYPCN
Name
(RefSeq) contactin 1
  KO
K06759  contactin 1
Organism
hsa  Homo sapiens (human)
Pathway
hsa04514  Cell adhesion molecules
hsa04517  IgSF CAM signaling
Network
nt06546  IgSF CAM signaling
  Element
N01933  NrCAM interactions
N01934  L1CAM interactions
N01935  NFASC interactions
N01936  CNTN1 interactions
Disease
H01810  Congenital myopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04514 Cell adhesion molecules
    1272 (CNTN1)
   04517 IgSF CAM signaling
    1272 (CNTN1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    1272 (CNTN1)
   00537 Glycosylphosphatidylinositol (GPI)-anchored proteins [BR:hsa00537]
    1272 (CNTN1)
Cell adhesion molecules [BR:hsa04515]
 Immunoglobulin superfamily
  Contactins
   1272 (CNTN1)
Glycosylphosphatidylinositol (GPI)-anchored proteins [BR:hsa00537]
 Others
  1272 (CNTN1)
SSDB
Motif
Pfam: Ig_3 I-set ig Ig_2 fn3 V-set Ig_DSCAM-DSCAML_C Ig_5 Pur_ac_phosph_N Sp38 C2-set_2 Interfer-bind
Other DBs
NCBI-GeneID: 1272
NCBI-ProteinID: NP_001834
OMIM: 600016
HGNC: 2171
Ensembl: ENSG00000018236
UniProt: Q12860
Structure
LinkDB
Position
12:40692439..41072415
AA seq 1018 aa
MKMWLLVSHLVIISITTCLAEFTWYRRYGHGVSEEDKGFGPIFEEQPINTIYPEESLEGK
VSLNCRARASPFPVYKWRMNNGDVDLTSDRYSMVGGNLVINNPDKQKDAGIYYCLASNNY
GMVRSTEATLSFGYLDPFPPEERPEVRVKEGKGMVLLCDPPYHFPDDLSYRWLLNEFPVF
ITMDKRRFVSQTNGNLYIANVEASDKGNYSCFVSSPSITKSVFSKFIPLIPIPERTTKPY
PADIVVQFKDVYALMGQNVTLECFALGNPVPDIRWRKVLEPMPSTAEISTSGAVLKIFNI
QLEDEGIYECEAENIRGKDKHQARIYVQAFPEWVEHINDTEVDIGSDLYWPCVATGKPIP
TIRWLKNGYAYHKGELRLYDVTFENAGMYQCIAENTYGAIYANAELKILALAPTFEMNPM
KKKILAAKGGRVIIECKPKAAPKPKFSWSKGTEWLVNSSRILIWEDGSLEINNITRNDGG
IYTCFAENNRGKANSTGTLVITDPTRIILAPINADITVGENATMQCAASFDPALDLTFVW
SFNGYVIDFNKENIHYQRNFMLDSNGELLIRNAQLKHAGRYTCTAQTIVDNSSASADLVV
RGPPGPPGGLRIEDIRATSVALTWSRGSDNHSPISKYTIQTKTILSDDWKDAKTDPPIIE
GNMEAARAVDLIPWMEYEFRVVATNTLGRGEPSIPSNRIKTDGAAPNVAPSDVGGGGGRN
RELTITWAPLSREYHYGNNFGYIVAFKPFDGEEWKKVTVTNPDTGRYVHKDETMSPSTAF
QVKVKAFNNKGDGPYSLVAVINSAQDAPSEAPTEVGVKVLSSSEISVHWEHVLEKIVESY
QIRYWAAHDKEEAANRVQVTSQEYSARLENLLPDTQYFIEVGACNSAGCGPPSDMIEAFT
KKAPPSQPPRIISSVRSGSRYIITWDHVVALSNESTVTGYKVLYRPDGQHDGKLYSTHKH
SIEVPIPRDGEYVVEVRAHSDGGDGVVSQVKISGAPTLSPSLLGLLLPAFGILVYLEF
NT seq 3057 nt   +upstreamnt  +downstreamnt
atgaaaatgtggttgctggtcagtcatcttgtgataatatctattactacctgtttagca
gagtttacatggtatagaagatatggtcatggagtttctgaggaagacaaaggatttgga
ccaatttttgaagagcagccaatcaataccatttatccagaggaatcactggaaggaaaa
gtctcactcaactgtagggcacgagccagccctttcccggtttacaaatggagaatgaat
aatggggacgttgatctcacaagtgatcgatacagtatggtaggaggaaaccttgttatc
aacaaccctgacaaacagaaagatgctggaatatactactgtttagcatctaataactac
gggatggtcagaagcactgaagcaaccctgagctttggatatcttgatcctttcccacct
gaggaacgtcctgaggtcagagtaaaagaagggaaaggaatggtgcttctctgtgacccc
ccataccattttccagatgatcttagctatcgctggcttctaaatgaatttcctgtattt
atcacaatggataaacggcgatttgtgtctcagacaaatggcaatctctacattgcaaat
gttgaggcttccgacaaaggcaattattcctgctttgtttccagtccttctattacaaag
agcgtgttcagcaaattcatcccactcattccaatacctgaacgaacaacaaaaccatat
cctgctgatattgtagttcagttcaaggatgtatatgcattgatgggccaaaatgtgacc
ttagaatgttttgcacttggaaatcctgttccggatatccgatggcggaaggttctagaa
ccaatgccaagcactgctgagattagcacctctggggctgttcttaagatcttcaatatt
cagctagaagatgaaggcatctatgaatgtgaggctgagaacattagaggaaaggataaa
catcaagcaagaatttatgttcaagcattccctgagtgggtagaacacatcaatgacaca
gaggtggacataggcagtgatctctactggccttgtgtggccacaggaaagcccatccct
acaatccgatggttgaaaaatggatatgcgtatcataaaggggaattaagactgtatgat
gtgacttttgaaaatgccggaatgtatcagtgcatagctgaaaacacatatggagccatt
tatgcaaatgctgagttgaagatcttggcgttggctccaacttttgaaatgaatcctatg
aagaaaaagatcctggctgctaaaggtggaagggtgataattgaatgcaaacctaaagct
gcaccgaaaccaaagttttcatggagtaaagggacagagtggcttgtcaatagcagcaga
atactcatttgggaagatggtagcttggaaatcaacaacattacaaggaatgatggaggt
atctatacatgctttgcagaaaataacagagggaaagctaatagcactggaacccttgtt
atcacagatcctacgcgaattatattggccccaattaatgccgatatcacagttggagaa
aacgccaccatgcagtgtgctgcgtcctttgatcctgccttggatctcacatttgtttgg
tccttcaatggctatgtgatcgattttaacaaagagaatattcactaccagaggaatttt
atgctggattccaatggggaattactaatccgaaatgcgcagctgaaacatgctggaaga
tacacatgcactgcccagacaattgtggacaattcttcagcttcagctgaccttgtagtg
agaggccctccaggccctccaggtggtctgagaatagaagacattagagccacttctgtg
gcacttacttggagccgtggttcagacaatcatagtcctatttctaaatacactatccag
accaagactattctttcagatgactggaaagatgcaaagacagatcccccaattattgaa
ggaaatatggaggcagcaagagcagtggacttaatcccatggatggagtatgaattccgc
gtggtagcaaccaatacactgggtagaggagagcccagtataccatctaacagaattaaa
acagacggtgctgcaccaaatgtggctccttcagatgtaggaggtggaggtggaagaaac
agagagctgaccataacatgggcgcctttgtcaagagaataccactatggcaacaatttt
ggttacatagtggcatttaagccatttgatggagaagaatggaaaaaagtcacagttact
aatcctgatactggccgatatgtccataaagatgaaaccatgagcccttccactgcattt
caagttaaagtcaaggccttcaacaacaaaggagatggaccttacagcctagtagcagtc
attaattcagcacaagacgctcccagtgaagccccaacagaagtaggtgtaaaagtctta
tcatcttctgagatatctgttcattgggaacatgttttagaaaaaatagtggaaagctat
cagattcggtattgggctgcccatgacaaagaagaagctgcaaacagagttcaagtcacc
agccaagagtactcggccaggctcgagaaccttctgccagacacccagtattttatagaa
gtcggggcctgcaatagtgcagggtgtggacctccaagtgacatgattgaggctttcacc
aagaaagcacctcctagccagcctccaaggatcatcagttcagtaaggtctggttcacgc
tatataatcacctgggatcatgtcgttgcactatcaaatgaatctacagtgacgggatat
aaggtactctacagacctgatggccagcatgatggcaagctgtattcaactcacaaacac
tccatagaagtcccaatccccagagatggagaatacgttgtggaggttcgcgcgcacagt
gatggaggagatggagtggtgtctcaagtcaaaatttcaggtgcacccaccctatcccca
agtcttctcggcttactgctgcctgcctttggcatccttgtctacttggaattctga

KEGG   Homo sapiens (human): 6900
Entry
6900              CDS       T01001                                 
Symbol
CNTN2, AXT, EPEO5, FAME5, TAG-1, TAX, TAX1
Name
(RefSeq) contactin 2
  KO
K06760  contactin 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa04514  Cell adhesion molecules
hsa04517  IgSF CAM signaling
Network
nt06546  IgSF CAM signaling
  Element
N01933  NrCAM interactions
N01934  L1CAM interactions
N01937  CNTN2 interactions
Disease
H02213  Familial adult myoclonic epilepsy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04514 Cell adhesion molecules
    6900 (CNTN2)
   04517 IgSF CAM signaling
    6900 (CNTN2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    6900 (CNTN2)
   00537 Glycosylphosphatidylinositol (GPI)-anchored proteins [BR:hsa00537]
    6900 (CNTN2)
Cell adhesion molecules [BR:hsa04515]
 Immunoglobulin superfamily
  Contactins
   6900 (CNTN2)
Glycosylphosphatidylinositol (GPI)-anchored proteins [BR:hsa00537]
 Others
  6900 (CNTN2)
SSDB
Motif
Pfam: Ig_3 I-set ig Ig_2 fn3 V-set Ig_DSCAM-DSCAML_C Pur_ac_phosph_N Ig_5 Ig_4 C2-set_2 Izumo-Ig Sp38 C2-set Adeno_E3_CR1 Interfer-bind
Other DBs
NCBI-GeneID: 6900
NCBI-ProteinID: NP_001333012
OMIM: 190197
HGNC: 2172
Ensembl: ENSG00000184144
UniProt: Q02246
Structure
LinkDB
Position
1:205042949..205078289
AA seq 1040 aa
MGTATRRKPHLLLVAAVALVSSSAWSSALGSQTTFGPVFEDQPLSVLFPEESTEEQVLLA
CRARASPPATYRWKMNGTEMKLEPGSRHQLVGGNLVIMNPTKAQDAGVYQCLASNPVGTV
VSREAILRFGFLQEFSKEERDPVKAHEGWGVMLPCNPPAHYPGLSYRWLLNEFPNFIPTD
GRHFVSQTTGNLYIARTNASDLGNYSCLATSHMDFSTKSVFSKFAQLNLAAEDTRLFAPS
IKARFPAETYALVGQQVTLECFAFGNPVPRIKWRKVDGSLSPQWTTAEPTLQIPSVSFED
EGTYECEAENSKGRDTVQGRIIVQAQPEWLKVISDTEADIGSNLRWGCAAAGKPRPTVRW
LRNGEPLASQNRVEVLAGDLRFSKLSLEDSGMYQCVAENKHGTIYASAELAVQALAPDFR
LNPVRRLIPAARGGEILIPCQPRAAPKAVVLWSKGTEILVNSSRVTVTPDGTLIIRNISR
SDEGKYTCFAENFMGKANSTGILSVRDATKITLAPSSADINLGDNLTLQCHASHDPTMDL
TFTWTLDDFPIDFDKPGGHYRRTNVKETIGDLTILNAQLRHGGKYTCMAQTVVDSASKEA
TVLVRGPPGPPGGVVVRDIGDTTIQLSWSRGFDNHSPIAKYTLQARTPPAGKWKQVRTNP
ANIEGNAETAQVLGLTPWMDYEFRVIASNILGTGEPSGPSSKIRTREAAPSVAPSGLSGG
GGAPGELIVNWTPMSREYQNGDGFGYLLSFRRQGSTHWQTARVPGADAQYFVYSNESVRP
YTPFEVKIRSYNRRGDGPESLTALVYSAEEEPRVAPTKVWAKGVSSSEMNVTWEPVQQDM
NGILLGYEIRYWKAGDKEAAADRVRTAGLDTSARVSGLHPNTKYHVTVRAYNRAGTGPAS
PSANATTMKPPPRRPPGNISWTFSSSSLSIKWDPVVPFRNESAVTGYKMLYQNDLHLTPT
LHLTGKNWIEIPVPEDIGHALVQIRTTGPGGDGIPAEVHIVRNGGTSMMVENMAVRPAPH
PGTVISHSVAMLILIGSLEL
NT seq 3123 nt   +upstreamnt  +downstreamnt
atggggacagccaccaggaggaagccacacctgctgctggtagctgctgtggcccttgtc
tcctcttcagcttggagttcagccctgggatcccaaaccaccttcgggcctgtctttgaa
gaccagcccctcagtgtgctattcccagaggagtccacggaggagcaggtgttgctggca
tgccgcgcccgggccagccctccagccacctatcggtggaagatgaatggtaccgagatg
aagctggagccaggttcccgtcaccagctggtggggggcaacctggtcatcatgaacccc
accaaggcacaggatgccggggtctaccagtgcctggcctccaacccagtgggcaccgtt
gtcagcagggaggccatcctccgcttcggctttctgcaggaattctccaaggaggagcga
gacccagtgaaagctcatgaaggctggggggtgatgttgccctgtaacccacctgcccac
tacccaggcttgtcctaccgctggctcctcaacgagttccccaacttcatcccgacggac
gggcgtcacttcgtgtcccagaccacagggaacctgtacattgcccgaaccaatgcctca
gacctgggcaactactcctgtttggccaccagccacatggacttctccaccaagagcgtc
ttcagcaagtttgctcagctcaacctggctgctgaagatacccggctctttgcacccagc
atcaaggcccggttcccagcagagacctatgcactggtggggcagcaggtcaccctggag
tgcttcgcctttgggaaccctgtcccccggatcaagtggcgcaaagtggacggctccctg
tccccgcagtggaccacagctgagcccaccctgcagatccccagcgtcagctttgaggat
gagggcacctacgagtgtgaggcggagaactccaagggccgagacaccgtgcagggccgc
atcatcgtgcaggctcagcctgagtggctaaaagtgatctcggacacagaggctgacatt
ggctccaacctgcgttggggctgtgcagccgccggcaagccccggcctacagtgcgctgg
ctgcggaacggggagcctctggcctcccagaaccgggtggaggtgttggctggggacctg
cggttctccaagctgagcctggaagactcgggcatgtaccagtgtgtggcagagaataag
cacggtaccatctacgccagcgccgagctagccgtgcaagcactcgcccctgacttcagg
ctgaatcccgtgaggcgtctgatccccgcggcccgcgggggagagatccttatcccctgc
cagccccgggcagctccaaaggccgtggtgctctggagcaaaggcacggagattttggtc
aacagcagcagagtgactgtaactccagatggcaccttgatcataagaaacatcagccgg
tcagatgaaggcaaatacacctgctttgctgagaacttcatgggcaaagccaacagcact
ggaatcctatctgtgcgagatgcaaccaaaatcactctagccccctcaagtgccgacatc
aacttgggtgacaacctgaccctacagtgccatgcctcccacgaccccaccatggacctc
accttcacctggaccctggacgacttccccatcgactttgataagcctggagggcactac
cggagaactaatgtgaaggagaccattggggatctgaccatcctgaacgcccagctgcgc
catggggggaagtacacgtgcatggcccagacggtggtggacagcgcgtccaaggaggcc
acagtcctggtccgaggtccgccaggtcccccaggaggtgtggtggtgagggacattggc
gacaccaccatccagctcagctggagccgtggcttcgacaaccacagccccatcgctaag
tacaccctgcaagctcgcactccacctgcagggaagtggaagcaggttcggaccaatcct
gcaaacatcgagggcaatgccgagactgcacaggtgctgggcctcaccccctggatggac
tatgagttccgggtcatagccagcaacattctgggcactggggagcctagtgggccctcc
agcaaaatccggaccagggaagcagccccctcggtggcaccctcaggactcagcggagga
ggtggagcccccggagagctcatcgtcaactggacgcccatgtcacgggagtaccagaac
ggagacggcttcggctacctgctgtccttccgcaggcagggcagcactcactggcagacc
gcccgggtgcctggcgccgatgcccagtactttgtctacagcaacgagagcgtccggccc
tacacgccctttgaggtcaagatccgcagctacaaccgccgcggggatgggcccgagagc
ctcactgcactcgtgtactcagctgaggaagagcccagggtggcccctaccaaggtgtgg
gccaaaggggtctcatcctcagagatgaacgtgacctgggaacccgtgcagcaggacatg
aatggtatcctcctggggtatgagatccgctactggaaagctggggacaaagaagcagct
gcggaccgagtgaggacagcagggctggacaccagtgcccgagtcagcggcctgcatccc
aacaccaagtaccatgtgaccgtgagggcctacaaccgggctggcactgggcctgccagc
ccttctgccaacgccacgaccatgaagccccctccgcggcgacctcctggcaacatctcc
tggactttctcaagctctagtcttagcattaagtgggaccctgtggtccctttccgaaat
gagtctgcagtcaccggctataagatgctgtaccagaatgacttacacctgactcccacg
ctccacctcaccggcaagaactggatagaaatcccagtgcctgaagacattggccatgcc
ctggtacaaattcggaccacagggcccggaggggatgggatccctgcagaagtccacatc
gtgaggaatggaggcacaagcatgatggtggagaacatggcagtccgcccagcaccacac
cctggcaccgtcatttcccactccgtggcgatgctgatcctcataggctccctggagctc
tga

KEGG   Homo sapiens (human): 342035
Entry
342035            CDS       T01001                                 
Symbol
GLDN, CLOM, COLM, CRG-L2, CRGL2, LCCS11, UNC-112, UNC-122
Name
(RefSeq) gliomedin
  KO
K16364  gliomedin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04517  IgSF CAM signaling
Network
nt06546  IgSF CAM signaling
  Element
N01933  NrCAM interactions
N01935  NFASC interactions
Disease
H00865  Lethal congenital contractural syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04517 IgSF CAM signaling
    342035 (GLDN)
SSDB
Motif
Pfam: OLF Collagen Beta-prop_IFT80_2nd
Other DBs
NCBI-GeneID: 342035
NCBI-ProteinID: NP_861454
OMIM: 608603
HGNC: 29514
Ensembl: ENSG00000186417
UniProt: Q6ZMI3
Structure
LinkDB
Position
15:51341655..51413365
AA seq 551 aa
MARGAEGGRGDAGWGLRGALAAVALLSALNAAGTVFALCQWRGLSSALRALEAQRGREQR
EDSALRSFLAELSRAPRGASAPPQDPASSARNKRSHSGEPAPHIRAESHDMLMMMTYSMV
PIRVMVDLCNSTKGICLTGPSGPPGPPGAGGLPGHNGLDGQPGPQGPKGEKGANGKRGKM
GIPGAAGNPGERGEKGDHGELGLQGNEGPPGQKGEKGDKGDVSNDVLLAGAKGDQGPPGP
PGPPGPPGPPGPPGSRRAKGPRQPSMFNGQCPGETCAIPNDDTLVGKADEKASEHHSPQA
ESMITSIGNPVQVLKVTETFGTWIRESANKSDDRIWVTEHFSGIMVKEFKDQPSLLNGSY
TFIHLPYYFHGCGHVVYNNSLYYHKGGSNTLVRFEFGQETSQTLKLENALYFDRKYLFAN
SKTYFNLAVDEKGLWIIYASSVDGSSILVAQLDERTFSVVQHVNTTYPKSKAGNAFIARG
ILYVTDTKDMRVTFAFDLLGGKQINANFDLRTSQSVLAMLAYNMRDQHLYSWEDGHLMLY
PVQFLSTTLNQ
NT seq 1656 nt   +upstreamnt  +downstreamnt
atggcccgaggcgctgagggaggccgtggggacgcgggttggggcctgcgtggcgccctg
gcggccgtggcgctgctctcggcgctcaacgctgcgggcacggtgttcgcgctgtgccag
tggcgcgggctgagctcggcgctgcgggctttggaggcgcagcggggccgggagcagcgc
gaggacagtgccctgcgctccttcctggccgagttgagccgcgcgccgcgcggggcgtcc
gcaccaccccaagacccggccagctcagctcgcaacaagcgcagccacagcggcgagccc
gcgccgcatatccgcgccgagagccatgacatgctgatgatgatgacctactccatggtg
ccgatccgagtgatggtggacctgtgcaacagcaccaagggcatctgcctcacaggacct
tctggaccaccaggacctccgggagccggcgggttgccaggacacaacggattggatgga
cagcctggtcctcagggcccaaaaggagaaaaaggagcaaatggaaaaagaggaaaaatg
gggatacctggagctgcaggaaatccaggggaaaggggagaaaagggagaccatggtgaa
ctgggcctgcagggaaatgagggcccaccagggcagaagggagaaaagggtgacaaagga
gatgtgtccaacgacgtgctcctggcaggtgccaaaggtgaccaaggcccacccggtcca
cctgggcccccaggccctccaggtcctccagggccccctggaagcagaagagccaaaggc
cctcggcagccaagcatgttcaacggccagtgcccaggtgagacttgtgccataccaaat
gatgataccttggttggaaaagctgatgagaaagccagtgaacaccattccccacaagca
gaatccatgatcacttccattggaaacccagtgcaagtactgaaagtgacagagacattt
gggacttggataagagagtctgctaacaagagtgatgaccggatttgggtgacagagcat
ttttcaggcatcatggttaaggaattcaaggatcagccctcacttctgaatggcagttac
acgttcatccaccttccatactatttccatggctgtgggcacgttgtttacaacaactct
ctctactaccacaaagggggttctaataccctagtgagatttgaatttggccaggaaaca
tcccaaactctgaagcttgaaaatgccttgtattttgatcgaaaatacctttttgcaaat
tccaaaacttacttcaatctagctgtagatgaaaagggcctttggattatctatgcgtca
agtgtggacggctcgagcattcttgtagcacaactggatgagaggacattctcagtggtg
caacacgtcaataccacgtaccctaaatccaaggctggcaacgccttcattgcccgagga
atcctctatgtcacagacaccaaagatatgagggtcacatttgcctttgatttgttagga
gggaaacagatcaatgcaaactttgatttaagaacttcccagtctgttcttgccatgtta
gcatacaacatgagagatcagcatttatattcatgggaagatggccatttaatgctttat
cctgtgcagtttttgtcaactaccttaaatcagtga

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