KEGG   Homo sapiens (human): 1829
Entry
1829              CDS       T01001                                 

Symbol
DSG2, CDHF5, HDGC
Name
(RefSeq) desmoglein 2
  KO
K07597  desmoglein 2
Organism
hsa  Homo sapiens (human)
Pathway
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
Disease
H00293  Arrhythmogenic right ventricular cardiomyopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09166 Cardiovascular disease
   05412 Arrhythmogenic right ventricular cardiomyopathy
    1829 (DSG2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    1829 (DSG2)
Cell adhesion molecules [BR:hsa04515]
 Cadherins
  Major cadherins
   1829 (DSG2)
SSDB
Motif
Pfam: Cadherin Cadherin_C Imm50
Other DBs
NCBI-GeneID: 1829
NCBI-ProteinID: NP_001934
OMIM: 125671
HGNC: 3049
Ensembl: ENSG00000046604
Vega: OTTHUMG00000179649
Pharos: Q14126(Tbio)
UniProt: Q14126
Structure
PDB: 
5ERD 5J5J 6QNT 6QNU 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 (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (4)   
   KEGG DISEASE (1)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (23)   
   KEGG ORTHOLOGY (1)   
   RefGene (13)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (2)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (40)   
   RefSeq(nuc) (2)   
   GenBank (19)   
   EMBL (19)   
Protein domain (3)   
   Pfam (3)   
All databases (78)   

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