KEGG   Homo sapiens (human): 2697Help
Entry
2697              CDS       T01001                                 

Gene name
GJA1, AVSD3, CMDR, CX43, EKVP, EKVP3, GJAL, HLHS1, HSS, ODDD, PPKCA
Definition
(RefSeq) gap junction protein alpha 1
  KO
K07372  gap junction alpha-1 protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04540  Gap junction
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Disease
H00449  Oculodentodigital dysplasia
H00547  Atrioventricular septal defect
H00710  Erythrokeratodermia variabilis
H01095  Syndactyly
H01272  Hypoplastic left heart syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04540 Gap junction
    2697 (GJA1)
 09160 Human Diseases
  09166 Cardiovascular disease
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    2697 (GJA1)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    2697 (GJA1)
Transporters [BR:hsa02000]
 Other Transporters
  Pores ion channels [TC:1]
   2697 (GJA1)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Connexin Connexin43 Connexin40_C 7tm_1 Ammonium_transp
Motif
Other DBs
NCBI-GeneID: 2697
NCBI-ProteinID: NP_000156
OMIM: 121014
HGNC: 4274
Ensembl: ENSG00000152661
Vega: OTTHUMG00000015479
Pharos: P17302(Tbio)
UniProt: P17302
LinkDB All DBs
Structure
PDB: 

Position
6q22.31
AA seq 382 aa AA seqDB search
MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPG
CENVCYDKSFPISHVRFWVLQIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDG
VNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISILFKSIFEVAFLLIQWYIYGFS
LSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV
KGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRN
YNKQASEQNWANYSAEQNRMGQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVD
QRPSSRASSRASSRPRPDDLEI
NT seq 1149 nt NT seq  +upstreamnt  +downstreamnt
atgggtgactggagcgccttaggcaaactccttgacaaggttcaagcctactcaactgct
ggagggaaggtgtggctgtcagtacttttcattttccgaatcctgctgctggggacagcg
gttgagtcagcctggggagatgagcagtctgcctttcgttgtaacactcagcaacctggt
tgtgaaaatgtctgctatgacaagtctttcccaatctctcatgtgcgcttctgggtcctg
cagatcatatttgtgtctgtacccacactcttgtacctggctcatgtgttctatgtgatg
cgaaaggaagagaaactgaacaagaaagaggaagaactcaaggttgcccaaactgatggt
gtcaatgtggacatgcacttgaagcagattgagataaagaagttcaagtacggtattgaa
gagcatggtaaggtgaaaatgcgaggggggttgctgcgaacctacatcatcagtatcctc
ttcaagtctatctttgaggtggccttcttgctgatccagtggtacatctatggattcagc
ttgagtgctgtttacacttgcaaaagagatccctgcccacatcaggtggactgtttcctc
tctcgccccacggagaaaaccatcttcatcatcttcatgctggtggtgtccttggtgtcc
ctggccttgaatatcattgaactcttctatgttttcttcaagggcgttaaggatcgggtt
aagggaaagagcgacccttaccatgcgaccagtggtgcgctgagccctgccaaagactgt
gggtctcaaaaatatgcttatttcaatggctgctcctcaccaaccgctcccctctcgcct
atgtctcctcctgggtacaagctggttactggcgacagaaacaattcttcttgccgcaat
tacaacaagcaagcaagtgagcaaaactgggctaattacagtgcagaacaaaatcgaatg
gggcaggcgggaagcaccatctctaactcccatgcacagccttttgatttccccgatgat
aaccagaattctaaaaaactagctgctggacatgaattacagccactagccattgtggac
cagcgaccttcaagcagagccagcagtcgtgccagcagcagacctcggcctgatgacctg
gagatctag

KEGG   Homo sapiens (human): 57369Help
Entry
57369             CDS       T01001                                 

Gene name
GJD2, CX36, GJA9
Definition
(RefSeq) gap junction protein delta 2
  KO
K07373  gap junction delta-2 protein
Organism
hsa  Homo sapiens (human)
Pathway
hsa04540  Gap junction
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04540 Gap junction
    57369 (GJD2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   02000 Transporters [BR:hsa02000]
    57369 (GJD2)
Transporters [BR:hsa02000]
 Other Transporters
  Pores ion channels [TC:1]
   57369 (GJD2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Connexin
Motif
Other DBs
NCBI-GeneID: 57369
NCBI-ProteinID: NP_065711
OMIM: 607058
HGNC: 19154
Ensembl: ENSG00000159248
Vega: OTTHUMG00000129674
Pharos: Q9UKL4(Tbio)
UniProt: Q9UKL4
LinkDB All DBs
Position
15q14
AA seq 321 aa AA seqDB search
MGEWTILERLLEAAVQQHSTMIGRILLTVVVIFRILIVAIVGETVYDDEQTMFVCNTLQP
GCNQACYDRAFPISHIRYWVFQIIMVCTPSLCFITYSVHQSAKQRERRYSTVFLALDRDP
PESIGGPGGTGGGGSGGGKREDKKLQNAIVNGVLQNTENTSKETEPDCLEVKELTPHPSG
LRTASKSKLRRQEGISRFYIIQVVFRNALEIGFLVGQYFLYGFSVPGLYECNRYPCIKEV
ECYVSRPTEKTVFLVFMFAVSGICVVLNLAELNHLGWRKIKLAVRGAQAKRKSIYEIRNK
DLPRVSVPNFGRTQSSDSAYV
NT seq 966 nt NT seq  +upstreamnt  +downstreamnt
atgggggaatggaccatcttggagaggctgctagaagccgcggtgcagcagcactccact
atgatcgggaggatcctgttgactgtggtggtgatcttccggatcctcattgtggccatt
gtgggggagacggtgtacgatgatgagcagaccatgtttgtgtgcaacaccctgcagccc
ggctgtaaccaggcctgctatgaccgcgccttccccatctcccacatacgttactgggtc
ttccagatcataatggtgtgtacccccagtctttgcttcatcacctactctgtgcaccag
tccgccaagcagcgagaacgccgctactctacagtcttcctagccctggacagagacccc
cctgagtccataggaggtcctggaggaactgggggtgggggcagtggtgggggcaaacga
gaagataagaagttgcaaaatgctattgtgaatggggtgctgcagaacacagagaacacc
agtaaggagacagagccagattgtttagaggttaaggagctgactccacacccatcaggt
ctacgcactgcatcaaaatccaagctcagaaggcaggaaggcatctcccgcttctacatt
atccaagtggtgttccgaaatgccctggaaattgggttcctggttggccaatattttctc
tatggctttagtgtcccagggttgtatgagtgtaaccgctacccctgcatcaaggaggtg
gaatgttatgtgtcccggccaactgagaagactgtctttctagtgttcatgtttgctgta
agtggcatctgtgttgtgctcaacctggctgaactcaaccacctgggatggcgcaagatc
aagctggctgtgcgaggggctcaggccaagagaaagtcaatctatgagattcgtaacaag
gacctgccaagggtcagtgttcccaattttggcaggactcagtccagtgactctgcctat
gtgtga

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