Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54933
Gene name Gene Name - the full gene name approved by the HGNC.
Rhomboid like 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RHBDL2
Synonyms (NCBI Gene) Gene synonyms aliases
RRP2
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p34.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are t
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT022548 hsa-miR-124-3p Microarray 18668037
MIRT607807 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT636273 hsa-miR-1281 HITS-CLIP 23824327
MIRT607805 hsa-miR-6741-3p HITS-CLIP 23824327
MIRT607804 hsa-miR-1304-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IDA 19850051
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane IDA 19850051
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608962 16083 ENSG00000158315
Protein
UniProt ID Q9NX52
Protein name Rhomboid-related protein 2 (RRP2) (EC 3.4.21.105) (Rhomboid-like protein 2) [Cleaved into: Rhomboid-related protein 2, N-terminal fragment (NTF); Rhomboid-related protein 2, C-terminal fragment (CTF)]
Protein function Involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. Known substrate: EFNB3.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01694 Rhomboid 114 269 Rhomboid family Family
Sequence
MAAVHDLEMESMNLNMGREMKEELEEEEKMREDGGGKDRAKSKKVHRIVSKWMLPEKSRG
TYLERANCFPPPVFIISISLAELAVFIYYAVWKPQKQWITLDTGILESPFIYSPEKREEA
WRFISYMLVHAGVQHILGNLCMQLVLGIPLEMVHKGLRVGLVYLAGVIAGSLASSIFDPL
RYLVGASGGVYALMGGYFMNVLVNFQEMIPAFGIFRLLIIILIIVLDMGFALYRRFFVPE
DGSPVSFAAHIAGGFAGMSIGYTVFSCFD
KALLKDPRFWIAIAAYLACVLFAVFFNIFLS
PAN
Sequence length 303
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Diabetes Severe autoimmune type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Neoplasms Associate 24185965
Osteosarcoma Associate 40668798