RHBDF2
entrez
79651
canonical
uniprot
Q6PJF5
canonical
ensembl
ENSG00000129667
resolver
ensp
ENSP00000322775
resolver
ensp
ENSP00000501790
resolver
ensp
ENSP00000548719
resolver
ensp
ENSP00000548720
resolver
ensp
ENSP00000548721
resolver
ensp
ENSP00000548722
resolver
ensp
ENSP00000548723
resolver
ensp
ENSP00000548724
resolver
ensp
ENSP00000548726
resolver
ensp
ENSP00000548727
resolver
ensp
ENSP00000713197
resolver
genesymbol
RHBDF2
resolver
genesymbol_syn
IRHOM2
resolver
genesymbol_syn
RHBDL5
resolver
genesymbol_syn
RHBDL6
resolver
hgnc
HGNC:20788
resolver
uniprot
A6NEM3
resolver
uniprot
A8K801
resolver
uniprot
Q5U607
resolver
uniprot
Q5YGQ8
resolver
uniprot
Q9H6E9
resolver
uniprot_entry
RHDF2_HUMAN
resolver
uniprot_sec
A6NEM3
resolver
uniprot_sec
A8K801
resolver
uniprot_sec
Q5U607
resolver
uniprot_sec
Q5YGQ8
resolver
uniprot_sec
Q9H6E9
resolver
amino_acid_sequence
MASADKNGGSVSSVSSSRLQSRKPPNLSITIPPPEKETQAPGEQDSMLPEGFQNRRLKKSQPRTWAAHTTACPPSFLPKRKNPAYLKSVSLQEPRSRWQESSEKRPGFRRQASLSQSIRKGAAQWFGVSGDWEGQRQQWQRRSLHHCSMRYGRLKASCQRDLELPSQEAPSFQGTESPKPCKMPKIVDPLARGRAFRHPEEMDRPHAPHPPLTPGVLSLTSFTSVRSGYSHLPRRKRMSVAHMSLQAAAALLKGRSVLDATGQRCRVVKRSFAFPSFLEEDVVDGADTFDSSFFSKEEMSSMPDDVFESPPLSASYFRGIPHSASPVSPDGVQIPLKEYGRAPVPGPRRGKRIASKVKHFAFDRKKRHYGLGVVGNWLNRSYRRSISSTVQRQLESFDSHRPYFTYWLTFVHVIITLLVICTYGIAPVGFAQHVTTQLVLRNKGVYESVKYIQQENFWVGPSSIDLIHLGAKFSPCIRKDGQIEQLVLRERDLERDSGCCVQNDHSGCIQTQRKDCSETLATFVKWQDDTGPPMDKSDLGQKRTSGAVCHQDPRTCEEPASSGAHIWPDDITKWPICTEQARSNHTGFLHMDCEIKGRPCCIGTKGSCEITTREYCEFMHGYFHEEATLCSQVHCLDKVCGLLPFLNPEVPDQFYRLWLSLFLHAGVVHCLVSVVFQMTILRDLEKLAGWHRIAIIFILSGITGNLASAIFLPYRAEVGPAGSQFGLLACLFVELFQSWPLLERPWKAFLNLSAIVLFLFICGLLPWIDNIAHIFGFLSGLLLAFAFLPYITFGTSDKYRKRALILVSLLAFAGLFAALVLWLYIYPINWPWIEHLTCFPFTSRFCEKYELDQVLH
uniprot
proteins
disease_involvement
DISEASE: Tylosis with esophageal cancer (TOC) [MIM:148500]: An autosomal dominant syndrome characterized by focal non-epidermolytic palmoplantar keratoderma, oral leukokeratosis, and a high lifetime risk of developing esophageal squamous cell carcinoma. {ECO:0000269|PubMed:22265016, ECO:0000269|PubMed:22638770, ECO:0000269|PubMed:29372562}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Regulates ADAM17 protease, a sheddase of the epidermal growth factor (EGF) receptor ligands and TNF, thereby plays a role in sleep, cell survival, proliferation, migration and inflammation. Does not exhibit any protease activity on its own. {ECO:0000250|UniProtKB:Q80WQ6}.
uniprot
proteins
mass_dalton
96686
uniprot
proteins
protein_family
Peptidase S54 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22265016
uniprot
proteins
pubmed
22638770
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
29372562
uniprot
proteins
pubmed
29897333
uniprot
proteins
pubmed
29897336
uniprot
proteins
sequence_length
856
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q80WQ6}; Multi-pass membrane protein {ECO:0000250|UniProtKB:Q80WQ6}. Cell membrane {ECO:0000269|PubMed:22265016, ECO:0000269|PubMed:29897333}.
uniprot
proteins
transmembrane_region
TRANSMEM 410..430; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 661..681; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 693..713; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 716..736; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 748..768; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 774..794; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 803..823; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins