KEGG   Homo sapiens (human): 1292
Entry
1292              CDS       T01001                                 
Symbol
COL6A2, BTHLM1, BTHLM1B, PP3610, UCMD1, UCMD1B
Name
(RefSeq) collagen type VI alpha 2 chain
  KO
K06238  collagen type VI alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04512  ECM-receptor interaction
hsa04820  Cytoskeleton in muscle cells
hsa04974  Protein digestion and absorption
hsa05165  Human papillomavirus infection
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01814  Extracellular matrix - Basal lamina
Disease
H01338  Myosclerosis
H01340  Bethlem myopathy
H01341  Collagen VI myopathy
H01778  Ullrich disease
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04151 PI3K-Akt signaling pathway
    1292 (COL6A2)
  09133 Signaling molecules and interaction
   04512 ECM-receptor interaction
    1292 (COL6A2)
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    1292 (COL6A2)
 09150 Organismal Systems
  09154 Digestive system
   04974 Protein digestion and absorption
    1292 (COL6A2)
 09160 Human Diseases
  09172 Infectious disease: viral
   05165 Human papillomavirus infection
    1292 (COL6A2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04147 Exosome [BR:hsa04147]
    1292 (COL6A2)
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    1292 (COL6A2)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of other body fluids (saliva and urine)
   1292 (COL6A2)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   1292 (COL6A2)
 Hyaluronan
  Extracellular matrix or blood plasma proteins
   1292 (COL6A2)
SSDB
Motif
Pfam: VWA Collagen VWA_2 Ins134_P3_kin_N
Other DBs
NCBI-GeneID: 1292
NCBI-ProteinID: NP_001840
OMIM: 120240
HGNC: 2212
Ensembl: ENSG00000142173
UniProt: P12110 A0A384MDP3
LinkDB
Position
21:46098112..46132848
AA seq 1019 aa
MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQ
SPTDILLFHMKQFVPQFISQLQNEFYLDQVALSWRYGGLHFSDQVEVFSPPGSDRASFIK
NLQGISSFRRGTFTDCALANMTEQIRQDRSKGTVHFAVVITDGHVTGSPCGGIKLQAERA
REEGIRLFAVAPNQNLKEQGLRDIASTPHELYRNDYATMLPDSTEIDQDTINRIIKVMKH
EAYGECYKVSCLEIPGPSGPKGYRGQKGAKGNMGEPGEPGQKGRQGDPGIEGPIGFPGPK
GVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEA
GSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGYQGNSGAPGSPGVKGAKGGPGPRGPK
GEPGRRGDPGTKGSPGSDGPKGEKGDPGPEGPRGLAGEVGNKGAKGDRGLPGPRGPQGAL
GEPGKQGSRGDPGDAGPRGDSGQPGPKGDPGRPGFSYPGPRGAPGEKGEPGPRGPEGGRG
DFGLKGEPGRKGEKGEPADPGPPGEPGPRGPRGVPGPEGEPGPPGDPGLTECDVMTYVRE
TCGCCDCEKRCGALDVVFVIDSSESIGYTNFTLEKNFVINVVNRLGAIAKDPKSETGTRV
GVVQYSHEGTFEAIQLDDERIDSLSSFKEAVKNLEWIAGGTWTPSALKFAYDRLIKESRR
QKTRVFAVVITDGRHDPRDDDLNLRALCDRDVTVTAIGIGDMFHEKHESENLYSIACDKP
QQVRNMTLFSDLVAEKFIDDMEDVLCPDPQIVCPDLPCQTELSVAQCTQRPVDIVFLLDG
SERLGEQNFHKARRFVEQVARRLTLARRDDDPLNARVALLQFGGPGEQQVAFPLSHNLTA
IHEALETTQYLNSFSHVGAGVVHAINAIVRSPRGGARRHAELSFVFLTDGVTGNDSLHES
AHSMRKQNVVPTVLALGSDVDMDVLTTLSLGDRAAVFHEKDYDSLAQPGFFDRFIRWIC
NT seq 3060 nt   +upstreamnt  +downstreamnt
atgctccagggcacctgctccgtgctcctgctctggggaatcctgggggccatccaggcc
cagcagcaggaggtcatctcgccggacactaccgagagaaacaacaactgcccagagaag
accgactgccccatccacgtgtacttcgtgctggacacctcggagagcgtcaccatgcag
tcccccacggacatcctgctcttccacatgaagcagttcgtgccgcagttcatcagccag
ctgcagaacgagttctacctggaccaggtggcgctgagctggcgctacggcggcctgcac
ttctctgaccaggtggaggtgttcagcccaccgggcagcgaccgggcctccttcatcaag
aacctgcagggcatcagctccttccgccgcggcaccttcaccgactgcgcgctggccaac
atgacggagcagatccggcaggaccgcagcaagggcaccgtccacttcgccgtggtcatc
accgacggccacgtcaccggcagcccctgcgggggcatcaagctgcaggccgagcgggcc
cgcgaggagggcatccggctcttcgccgtggcccccaaccagaacctgaaggagcagggc
ctgcgggacatcgccagcacgccgcacgagctctaccgcaacgactacgccaccatgctg
cccgactccaccgagatcgaccaggacaccatcaaccgcatcatcaaggtcatgaaacac
gaagcctacggagagtgctacaaggtgagctgcctggaaatccctgggccctctggcccc
aagggctaccgtggacagaagggtgccaagggcaacatgggtgagccgggagagcctggc
cagaagggaagacagggagacccgggcatcgaaggccccattggattcccaggacccaag
ggcgttcctggcttcaaaggagagaagggtgaatttggagccgacggtcgcaagggggcc
cctggcctggctggcaagaacgggaccgatggacagaagggcaagctggggcgcatcgga
cctcctggctgcaagggagaccctggaaaccggggccccgacggttacccgggggaagca
gggagtccaggggagcgaggagaccaaggcggcaagggggaccctggccgcccaggacgc
agagggcccccgggagaaatcggggccaagggaagcaaggggtatcaaggcaacagtgga
gccccaggaagtcctggtgtgaaaggagccaagggcgggcctgggccccgcggacccaaa
ggcgagccggggcgcaggggagaccccggcaccaagggcagcccaggcagcgatggcccc
aagggggagaagggggaccctggccctgaggggccccgcggcctggctggagaggttggc
aacaaaggagccaagggagaccgaggcttgcctggacccagaggcccccagggagctctt
ggggagcccggaaagcagggatctcggggagaccccggtgatgcaggaccccgtggagac
tcaggacagccaggccccaagggagaccccggcaggcctggattcagctacccaggaccc
cgaggagcacccggagaaaaaggcgagcccggcccacgcggccccgagggaggccgaggc
gactttggcttgaaaggagaacctgggaggaaaggagagaaaggagagcctgcggatcct
ggtccccctggtgagccaggccctcgggggccaagaggagtcccaggacccgagggtgag
cccggcccccctggagaccccggtctcacggagtgtgacgtcatgacctacgtgagggag
acctgcgggtgctgcgactgtgagaagcgctgtggcgccctggacgtggtcttcgtcatc
gacagctccgagagcattgggtacaccaacttcacactggagaagaacttcgtcatcaac
gtggtcaacaggctgggtgccatcgctaaggaccccaagtccgagacagggacgcgtgtg
ggcgtggtgcagtacagccacgagggcacctttgaggccatccagctggacgacgaacgt
atcgactccctgtcgagcttcaaggaggctgtcaagaacctcgagtggattgcgggcggc
acctggacaccctcagccctcaagtttgcctacgaccgcctcatcaaggagagccggcgc
cagaagacacgtgtgtttgcggtggtcatcacggacgggcgccacgaccctcgggacgat
gacctcaacttgcgggcgctgtgcgaccgcgacgtcacagtgacggccatcggcatcggg
gacatgttccacgagaagcacgagagtgaaaacctctactccatcgcctgcgacaagcca
cagcaggtgcgcaacatgacgctgttctccgacctggtcgctgagaagttcatcgatgac
atggaggacgtcctctgcccggaccctcagatcgtgtgcccagaccttccctgccaaaca
gagctgtccgtggcacagtgcacgcagcggcccgtggacatcgtcttcctgctggacggc
tccgagcggctgggtgagcagaacttccacaaggcccggcgcttcgtggagcaggtggcg
cggcggctgacgctggcccggagggacgacgaccctctcaacgcacgcgtggcgctgctg
cagtttggtggccccggcgagcagcaggtggccttcccgctgagccacaacctcacggcc
atccacgaggcgctggagaccacacaatacctgaactccttctcgcacgtgggcgcaggc
gtggtgcacgccatcaatgccatcgtgcgcagcccgcgtggcggggcccggaggcacgca
gagctgtccttcgtgttcctcacggacggcgtcacgggcaacgacagtctgcacgagtcg
gcgcactccatgcgcaagcagaacgtggtacccaccgtgctggccttgggcagcgacgtg
gacatggacgtgctcaccacgctcagcctgggtgaccgcgccgccgtgttccacgagaag
gactatgacagcctggcgcaacccggcttcttcgaccgcttcatccgctggatctgctag

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