RHBDF2 (rhomboid 5 homolog 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79651
Gene name Gene Name - the full gene name approved by the HGNC.
Rhomboid 5 homolog 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RHBDF2
Synonyms (NCBI Gene) Gene synonyms aliases
RHBDL5, RHBDL6, TOC, TOCG, iRhom2
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q25.1
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614404 20788 ENSG00000129667
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
PF12595 Rhomboid_SP 128 → 334 Rhomboid serine protease Family
PF01694 Rhomboid 648 → 792 Rhomboid family Family
Tissue specificity TISSUE SPECIFICITY: Found in the epidermis and esophageal epithelium. {ECO:0000269|PubMed:22265016}.
Sequence 
MASADKNGGSVSSVSSSRLQSRKPPNLSITIPPPEKETQAPGEQDSMLPEGFQNRRLKKS
QPRTWAAHTTACPPSFLPKRKNPAYLKSVSLQEPRSRWQESSEKRPGFRRQASLSQSIRK
GAAQWFGVSGDWEGQRQQWQRRSLHHCSMRYGRLKASCQRDLELPSQEAPSFQGTESPKP
CKMPKIVDPLARGRAFRHPEEMDRPHAPHPPLTPGVLSLTSFTSVRSGYSHLPRRKRMSV
AHMSLQAAAALLKGRSVLDATGQRCRVVKRSFAFPSFLEEDVVDGADTFDSSFFSKEEMS
SMPDDVFESPPLSASYFRGIPHSASPVSPDGVQIPLKEYGRAPVPGPRRGKRIASKVKHF
AFDRKKRHYGLGVVGNWLNRSYRRSISSTVQRQLESFDSHRPYFTYWLTFVHVIITLLVI
CTYGIAPVGFAQHVTTQLVLRNKGVYESVKYIQQENFWVGPSSIDLIHLGAKFSPCIRKD
GQIEQLVLRERDLERDSGCCVQNDHSGCIQTQRKDCSETLATFVKWQDDTGPPMDKSDLG
QKRTSGAVCHQDPRTCEEPASSGAHIWPDDITKWPICTEQARSNHTGFLHMDCEIKGRPC
CIGTKGSCEITTREYCEFMHGYFHEEATLCSQVHCLDKVCGLLPFLNPEVPDQFYRLWLS
LFLHAGVVHCLVSVVFQMTILRDLEKLAGWHRIAIIFILSGITGNLASAIFLPYRAEVGP
AGSQFGLLACLFVELFQSWPLLERPWKAFLNLSAIVLFLFICGLLPWIDNIAHIFGFLSG
LLLAFAFLPYITFGTSDKYRKRALILVSLLAFAGLFAALVLWLYIYPINWPWIEHLTCFP
FTSRFCEKYELDQVLH
Sequence length 856
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  TNF signaling pathway   CD163 mediating an anti-inflammatory response
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome palmoplantar keratoderma-esophageal carcinoma syndrome rs387907129 N/A
Show/Hide Text Mining Associations (27)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 25129075, 31775875
Arthritis Associate 31815152
Breast Neoplasms Associate 36452073
Carcinogenesis Associate 31661139, 36452073
Carcinoma Hepatocellular Stimulate 36943228
Disease Associate 24643277
Esophageal Neoplasms Associate 22265016
Esophageal Squamous Cell Carcinoma Associate 22265016
Fatty Liver Associate 36943228
Fibrosarcoma Associate 26535007