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Gene Gene information from NCBI Gene database.
Entrez ID 79651
Gene name Rhomboid 5 homolog 2
Gene symbol RHBDF2
Synonyms (NCBI Gene)
RHBDL5RHBDL6TOCTOCGiRhom2
Chromosome 17
Chromosome location 17q25.1
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs387907129 A>G Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs387907130 G>A Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
34 Show/Hide all (34)
miRTarBase ID miRNA Experiments Reference
MIRT017408 hsa-miR-335-5p Microarray 18185580
MIRT025648 hsa-miR-7-5p Microarray 19073608
MIRT027569 hsa-miR-98-5p Microarray 19088304
MIRT039628 hsa-miR-615-3p CLASH 23622248
MIRT027569 hsa-miR-98-5p PAR-CLIP 26701625
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22 Show/Hide all (22)
GO ID Ontology Definition Evidence Reference
GO:0002862 Process Negative regulation of inflammatory response to antigenic stimulus TAS
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0005515 Function Protein binding IPI 29897333, 29897336
GO:0005737 Component Cytoplasm IEA
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
614404 20788 ENSG00000129667
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PJF5
Protein name Inactive rhomboid protein 2 (iRhom2) (Rhomboid 5 homolog 2) (Rhomboid family member 2) (Rhomboid veinlet-like protein 5) (Rhomboid veinlet-like protein 6)
Protein 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
PDB 8SNL , 8SNM , 8SNN , 8SNO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01694 Rhomboid 648 → 792 Rhomboid family Family
PF12595 Rhomboid_SP 128 → 334 Rhomboid serine protease Family
Tissue specificity TISSUE SPECIFICITY: Found in the epidermis and esophageal epithelium. {ECO:0000269|PubMed:22265016}.
Sequence
MASADKNGGSVSSVSSSRLQSRKPPNLSITIPPPEKETQAPGEQDSMLPEGFQNRRLKKS
QPRTWAAHTTACPPSFLPKRKNPAYLKSVSLQEPRSRWQESSEKRPGFRRQASLSQSIRK
GAAQWFGVSGDWEGQRQQWQRRSLHHCSMRYGRLKASCQRDLELPSQEAPSFQGTESPKP
CKMPKIVDPLARGRAFRHPEEMDRPHAPHPPLTPGVLSLTSFTSVRSGYSHLPRRKRMSV
AHMSLQAAAALLKGRSVLDATGQRCRVVKRSFAFPSFLEEDVVDGADTFDSSFFSKEEMS
SMPDDVFESPPLSASYFRGIPHSASPVSPDGVQI
PLKEYGRAPVPGPRRGKRIASKVKHF
AFDRKKRHYGLGVVGNWLNRSYRRSISSTVQRQLESFDSHRPYFTYWLTFVHVIITLLVI
CTYGIAPVGFAQHVTTQLVLRNKGVYESVKYIQQENFWVGPSSIDLIHLGAKFSPCIRKD
GQIEQLVLRERDLERDSGCCVQNDHSGCIQTQRKDCSETLATFVKWQDDTGPPMDKSDLG
QKRTSGAVCHQDPRTCEEPASSGAHIWPDDITKWPICTEQARSNHTGFLHMDCEIKGRPC
CIGTKGSCEITTREYCEFMHGYFHEEATLCSQVHCLDKVCGLLPFLNPEVPDQFYRLWLS
LFLHAGVVHCLVSVVFQMTILRDLEKLAGWHRIAIIFILSGITGNLASAIFLPYRAEVGP
AGSQFGLLACLFVELFQSWPLLERPWKAFLNLSAIVLFLFICGLLPWIDNIAHIFGFLSG
LLLAFAFLPYIT
FGTSDKYRKRALILVSLLAFAGLFAALVLWLYIYPINWPWIEHLTCFP
FTSRFCEKYELDQVLH
Sequence length 856
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
TNF signaling pathway CD163 mediating an anti-inflammatory response
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Palmoplantar keratoderma-esophageal carcinoma syndrome Likely pathogenic; Pathogenic rs387907129 RCV000024177
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (19)
Phenotype Name Clinical Significance Source Reference Evidence Score
Acute myeloid leukemia Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (82)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Rickets Rickets BEFREE 30672760
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 25129075, 31775875 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 30097271
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 23348744, 28815577
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 31815152 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 30097271
★★★★★
★☆☆☆☆
Found in Text Mining only
Benign Neoplasm Benign Neoplasm BEFREE 29532101
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24218030
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36452073 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 31661139, 36452073 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only