Log in to bookmark this gene

Bookmark This Gene

Gene Gene information from NCBI Gene database.
Entrez ID 162494
Gene name Rhomboid like 3
Gene symbol RHBDL3
Synonyms (NCBI Gene)
RHBDL4VRHO
Chromosome 17
Chromosome location 17q11.2
miRNA miRNA information provided by mirtarbase database.
223 Show/Hide all (223)
miRTarBase ID miRNA Experiments Reference
MIRT039850 hsa-miR-615-3p CLASH 23622248
MIRT614510 hsa-miR-8485 HITS-CLIP 23824327
MIRT614509 hsa-miR-521 HITS-CLIP 23824327
MIRT614510 hsa-miR-8485 HITS-CLIP 23824327
MIRT614509 hsa-miR-521 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8 Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005509 Function Calcium ion binding IEA
GO:0006508 Process Proteolysis IEA
GO:0008233 Function Peptidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619017 16502 ENSG00000141314
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P58872
Protein name Rhomboid-related protein 3 (EC 3.4.21.105) (Ventrhoid transmembrane protein)
Protein function May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01694 Rhomboid 205 → 362 Rhomboid family Family
PF13499 EF-hand_7 36 → 100 EF-hand domain pair Domain
Sequence
MGEHPSPGPAVAACAEAERIEELEPEAEERLPAAPEDHWKVLFDQFDPGNTGYISTGKFR
SLLESHSSKLDPHKREVLLALADSHADGQIGYQDFVSLMS
NKRSNSFRQAILQGNRRLSS
KALLEEKGLSLSQRLIRHVAYETLPREIDRKWYYDSYTCCPPPWFMITVTLLEVAFFLYN
GVSLGQFVLQVTHPRYLKNSLVYHPQLRAQVWRYLTYIFMHAGIEHLGLNVVLQLLVGVP
LEMVHGATRIGLVYVAGVVAGSLAVSVADMTAPVVGSSGGVYALVSAHLANIVMNWSGMK
CQFKLLRMAVALICMSMEFGRAVWLRFHPSAYPPCPHPSFVAHLGGVAVGITLGVVVLRN
YE
QRLQDQSLWWIFVAMYTVFVLFAVFWNIFAYTLLDLKLPPPP
Sequence length 404
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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.
Phenotype Name Clinical Significance Source Reference Evidence Score
SCHIZOPHRENIA — GWAS catalog 26198764
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS — GWAS catalog 30019117
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 27563067 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only