KEGG T01001: 1829

Homo sapiens (human): 1829

Entry

1829 CDS T01001

Gene name

DSG2, ARVC10, ARVD10, CDHF5, CMD1BB, HDGC

Definition

desmoglein 2

Orthology

K07597

desmoglein 2

Organism

hsa Homo sapiens (human)

Pathway

hsa05412

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Disease

H00293

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Class

Human Diseases; Cardiovascular diseases; Arrhythmogenic right ventricular cardiomyopathy (ARVC) [PATH:hsa05412]

SSDB

Motif

Pfam:

Cadherin Cadherin_C Big_3_4

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Structure

PDB:

2YQG

Position

18q12.1

AA seq 1118 aa
MARSPGRAYALLLLLICFNVGSGLHLQVLSTRNENKLLPKHPHLVRQKRAWITAPVALRE
GEDLSKKNPIAKIHSDLAEERGLKITYKYTGKGITEPPFGIFVFNKDTGELNVTSILDRE
ETPFFLLTGYALDARGNNVEKPLELRIKVLDINDNEPVFTQDVFVGSVEELSAAHTLVMK
INATDADEPNTLNSKISYRIVSLEPAYPPVFYLNKDTGEIYTTSVTLDREEHSSYTLTVE
ARDGNGEVTDKPVKQAQVQIRILDVNDNIPVVENKVLEGMVEENQVNVEVTRIKVFDADE
IGSDNWLANFTFASGNEGGYFHIETDAQTNEGIVTLIKEVDYEEMKNLDFSVIVANKAAF
HKSIRSKYKPTPIPIKVKVKNVKEGIHFKSSVISIYVSESMDRSSKGQIIGNFQAFDEDT
GLPAHARYVKLEDRDNWISVDSVTSEIKLAKLPDFESRYVQNGTYTVKIVAISEDYPRKT
ITGTVLINVEDINDNCPTLIEPVQTICHDAEYVNVTAEDLDGHPNSGPFSFSVIDKPPGM
AEKWKIARQESTSVLLQQSEKKLGRSEIQFLISDNQGFSCPEKQVLTLTVCECLHGSGCR
EAQHDSYVGLGPAAIALMILAFLLLLLVPLLLLMCHCGKGAKGFTPIPGTIEMLHPWNNE
GAPPEDKVVPSFLPVDQGGSLVGRNGVGGMAKEATMKGSSSASIVKGQHEMSEMDGRWEE
HRSLLSGRATQFTGATGAIMTTETTKTARATGASRDMAGAQAAAVALNEEFLRNYFTDKA
ASYTEEDENHTAKDCLLVYSQEETESLNASIGCCSFIEGELDDRFLDDLGLKFKTLAEVC
LGQKIDINKEIEQRQKPATETSMNTASHSLCEQTMVNSENTYSSGSSFPVPKSLQEANAE
KVTQEIVTERSVSSRQAQKVATPLPDPMASRNVIATETSYVTGSTMPPTTVILGPSQPQS
LIVTERVYAPASTLVDQPYANEGTVVVTERVIQPHGGGSNPLEGTQHLQDVPYVMVRERE
SFLAPSSGVQPTLAMPNIAVGQNVTVTERVLAPASTLQSSYQIPTENSMTARNTTVSGAG
VPGPLPDFGLEESGHSNSTITTSSTRVTKHSTVQHSYS

NT seq 3357 nt +upstreamnt +downstreamnt
atggcgcggagcccgggacgcgcgtacgccctgctgcttctcctgatctgctttaacgtt
ggaagtggacttcacttacaggtcttaagcacaagaaatgaaaataagctgcttcctaaa
catcctcatttagtgcggcaaaagcgcgcctggatcaccgcccccgtggctcttcgggag
ggagaggatctgtccaagaagaatccaattgccaagatacattctgatcttgcagaagaa
agaggactcaaaattacttacaaatacactggaaaagggattacagagccaccttttggt
atatttgtctttaacaaagatactggagaactgaatgttaccagcattcttgatcgagaa
gaaacaccattttttctgctaacaggttacgctttggatgcaagaggaaacaatgtagag
aaacccttagagctacgcattaaggttcttgatatcaatgacaacgaaccagtgttcaca
caggatgtctttgttgggtctgttgaagagttgagtgcagcacatactcttgtgatgaaa
atcaatgcaacagatgcagatgagcccaataccctgaattcgaaaatttcctatagaatc
gtatctctggagcctgcttatcctccagtgttctacctaaataaagatacaggagagatt
tatacaaccagtgttaccttggacagagaggaacacagcagctacactttgacagtagaa
gcaagagatggcaatggagaagttacagacaaacctgtaaaacaagctcaagttcagatt
cgtattttggatgtcaatgacaatatacctgtagtagaaaataaagtgcttgaagggatg
gttgaagaaaatcaagtcaacgtagaagttacgcgcataaaagtgttcgatgcagatgaa
ataggttctgataattggctggcaaattttacatttgcatcaggaaatgaaggaggttat
ttccacatagaaacagatgctcaaactaacgaaggaattgtgacccttattaaggaagta
gattatgaagaaatgaagaatcttgacttcagtgttattgtcgctaataaagcagctttt
cacaagtcgattaggagtaaatacaagcctacacccattcccatcaaggtcaaagtgaaa
aatgtgaaagaaggcattcattttaaaagcagcgtcatctcaatttatgttagcgagagc
atggatagatcaagcaaaggccaaataattggaaattttcaagcttttgatgaggacact
ggactaccagcccatgcaagatatgtaaaattagaagatagagataattggatctctgtg
gattctgtcacatctgaaattaaacttgcaaaacttcctgattttgaatctagatatgtt
caaaatggcacatacactgtaaagattgtggccatatcagaagattatcctagaaaaacc
atcactggcacagtccttatcaatgttgaagacatcaacgacaactgtcccacactgata
gagcctgtgcagacaatctgtcacgatgcagagtatgtgaatgttactgcagaggacctg
gatggacacccaaacagtggccctttcagtttctccgtcattgacaaaccacctggcatg
gcagaaaaatggaaaatagcacgccaagaaagtaccagtgtgctgctgcaacaaagtgag
aaaaagcttgggagaagtgaaattcagttcctgatttcagacaatcagggttttagttgt
cctgaaaagcaggtccttacactcacagtttgtgagtgtctgcatggcagcggctgcagg
gaagcacagcatgactcctatgtgggcctgggacccgcagcaattgcgctcatgattttg
gcctttctgctcctgctattggtaccacttttactgctgatgtgccattgcggaaagggc
gccaaaggctttacccccatacctggcaccatagagatgctgcatccttggaataatgaa
ggagcaccacctgaagacaaggtggtgccatcatttctgccagtggatcaagggggcagt
ctagtaggaagaaatggagtaggaggtatggccaaggaagccacgatgaaaggaagtagc
tctgcttccattgtcaaagggcaacatgagatgtccgagatggatggaaggtgggaagaa
cacagaagcctgctttctggtagagctacccagtttacaggggccacaggcgctatcatg
accactgaaaccacgaagaccgcaagggccacaggggcttccagagacatggccggagct
caggcagctgctgttgcactgaacgaagaattcttaagaaattatttcactgataaagcg
gcctcttacactgaggaagatgaaaatcacacagccaaagattgccttctggtttattct
caggaagaaactgaatcgctgaatgcttctattggttgttgcagttttattgaaggagag
ctagatgaccgcttcttagatgatttgggacttaaattcaagacactagctgaagtttgc
ctgggtcaaaaaatagatataaataaggaaattgagcagagacaaaaacctgccacagaa
acaagtatgaacacagcttcacattcactctgtgagcaaactatggttaattcagagaat
acctactcctctggcagtagcttcccagttccaaaatctttgcaagaagccaatgcagag
aaagtaactcaggaaatagtcactgaaagatctgtgtcttctaggcaggcgcaaaaggta
gctacacctcttcctgacccaatggcttctagaaatgtgatagcaacagaaacttcctat
gtcacagggtccactatgccaccaaccactgtgatcctgggtcctagccagccacagagc
cttattgtgacagagagggtgtatgctccagcttctaccttggtagatcagccttatgct
aatgaaggtacagttgtggtcactgaaagagtaatacagcctcatgggggtggatcgaat
cctctggaaggcactcagcatcttcaagatgtaccttacgtcatggtgagggaaagagag
agcttccttgcccccagctcaggtgtgcagcctactctggccatgcctaatatagcagta
ggacagaatgtgacagtgacagaaagagttctagcacctgcttccactctgcaatccagt
taccagattcccactgaaaattctatgacggctaggaacaccacggtgtctggagctgga
gtccctggccctctgccagattttggtttagaggaatctggtcattctaattctaccata
accacatcttccaccagagttaccaagcatagcactgtacagcattcttactcctaa

All links

Ontology (1)   
   KEGG BRITE (1)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (13)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (5)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (2)   
   UniProt (1)   
   RefSeq(pep) (1)   
DNA sequence (33)   
   RefSeq(nuc) (1)   
   GenBank (16)   
   EMBL (16)   
3D Structure (1)   
   PDB (1)   
Protein domain (3)   
   Pfam (3)   
All databases (59)   

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