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

DBGET integrated database retrieval system