DSG4
entrez
147409
canonical
uniprot
Q86SJ6
canonical
ensembl
ENSG00000175065
resolver
ensp
ENSP00000311859
resolver
ensp
ENSP00000352785
resolver
genesymbol
DSG4
resolver
genesymbol_syn
CDHF13
resolver
hgnc
HGNC:21307
resolver
uniprot
A2RUI1
resolver
uniprot
Q6Y9L9
resolver
uniprot
Q8IXV4
resolver
uniprot_entry
DSG4_HUMAN
resolver
uniprot_sec
A2RUI1
resolver
uniprot_sec
Q6Y9L9
resolver
uniprot_sec
Q8IXV4
resolver
amino_acid_sequence
MDWLFFRNICLLIILMVVMEVNSEFIVEVKEFDIENGTTKWQTVRRQKREWIKFAAACREGEDNSKRNPIAKIRSDCESNQKITYRISGVGIDRPPYGVFTINPRTGEINITSVVDREITPLFLIYCRALNSRGEDLERPLELRVKVMDINDNAPVFSQSVYTASIEENSDANTLVVKLCATDADEENHLNSKIAYKIVSQEPSGAPMFILNRYTGEVCTMSSFLDREQHSMYNLVVRGSDRDGAADGLSSECDCRIKVLDVNDNFPTLEKTSYSASIEENCLSSELIRLQAIDLDEEGTDNWLAQYLILSGNDGNWFDIQTDPQTNEGILKVVKMLDYEQAPNIQLSIGVKNQADFHYSVASQFQMHPTPVRIQVVDVREGPAFHPSTMAFSVREGIKGSSLLNYVLGTYTAIDLDTGNPATDVRYIIGHDAGSWLKIDSRTGEIQFSREFDKKSKYIINGIYTAEILAIDDGSGKTATGTICIEVPDINDYCPNIFPERRTICIDSPSVLISVNEHSYGSPFTFCVVDEPPGIADMWDVRSTNATSAILTAKQVLSPGFYEIPILVKDSYNRACELAQMVQLYACDCDDNHMCLDSGAAGIYTEDITGDTYGPVTEDQAGVSNVGLGPAGIGMMVLGILLLILAPLLLLLCCCKQRQPEGLGTRFAPVPEGGEGVMQSWRIEGAHPEDRDVSNICAPMTASNTQDRMDSSEIYTNTYAAGGTVEGGVSGVELNTGMGTAVGLMAAGAAGASGAARKRSSTMGTLRDYADADINMAFLDSYFSEKAYAYADEDEGRPANDCLLIYDHEGVGSPVGSIGCCSWIVDDLDESCMETLDPKFRTLAEICLNTEIEPFPSHQACIPISTDLPLLGPNYFVNESSGLTPSEVEFQEEMAASEPVVHGDIIVTETYGNADPCVQPTTIIFDPQLAPNVVVTEAVMAPVYDIQGNICVPAELADYNNVIYAERVLASPGVPDMSNSSTTEGCMGPVMSGNILVGPEIQVMQMMSPDLPIGQTVGSTSPMTSRHRVTRYSNIHYTQQ
uniprot
proteins
disease_involvement
DISEASE: Hypotrichosis 6 (HYPT6) [MIM:607903]: A condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed. HYPT6 inheritance is autosomal recessive. {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:15191570, ECO:0000269|PubMed:16297213, ECO:0000269|PubMed:16543896, ECO:0000269|PubMed:21495994, ECO:0000269|PubMed:26173648}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Autoantibodies against DSG4 are found in patients with pemphigus vulgaris. Pemphigus vulgaris is a potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion. {ECO:0000269|PubMed:12705872}.
uniprot
proteins
function
FUNCTION: A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (By similarity). Coordinates the transition from proliferation to differentiation in hair follicle keratinocytes (By similarity). Plays a role in moderating lymphocyte migration to inflamed skin and maintaining homeostasis of the epidermal inflammatory response (By similarity). {ECO:0000250|UniProtKB:Q6W3B0, ECO:0000250|UniProtKB:Q7TMD7}.
uniprot
proteins
mass_dalton
113824
uniprot
proteins
pubmed
12648213
uniprot
proteins
pubmed
12705872
uniprot
proteins
pubmed
15191570
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16297213
uniprot
proteins
pubmed
16543896
uniprot
proteins
pubmed
21495994
uniprot
proteins
pubmed
24220297
uniprot
proteins
pubmed
26173648
uniprot
proteins
sequence_length
1040
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:21495994}; Single-pass type I membrane protein {ECO:0000255}. Cell junction, desmosome {ECO:0000269|PubMed:12705872, ECO:0000269|PubMed:21495994}. Note=Colocalizes with JUP at desmosomes. {ECO:0000269|PubMed:21495994}.
uniprot
proteins
transmembrane_region
TRANSMEM 632..652; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins