Gene Gene information from NCBI Gene database.
Entrez ID 84236
Gene name Rhomboid domain containing 1
Gene symbol RHBDD1
Synonyms (NCBI Gene)
RHBDL4RRP4
Chromosome 2
Chromosome location 2q36.3
miRNA miRNA information provided by mirtarbase database.
512
miRTarBase ID miRNA Experiments Reference
MIRT024241 hsa-miR-218-5p Sequencing 20371350
MIRT028195 hsa-miR-33a-5p Sequencing 20371350
MIRT1304653 hsa-miR-103a CLIP-seq
MIRT1304654 hsa-miR-107 CLIP-seq
MIRT1304655 hsa-miR-127-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
52
GO ID Ontology Definition Evidence Reference
GO:0004175 Function Endopeptidase activity IDA 22624035
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IDA 18953687
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005515 Function Protein binding IPI 18953687, 22624035, 32296183, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617515 23081 ENSG00000144468
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8TEB9
Protein name Rhomboid-related protein 4 (RRP4) (EC 3.4.21.105) (Rhomboid domain-containing protein 1) (Rhomboid-like protein 4)
Protein function Intramembrane-cleaving serine protease that cleaves single transmembrane or multi-pass membrane proteins in the hydrophobic plane of the membrane, luminal loops and juxtamembrane regions. Involved in regulated intramembrane proteolysis and the s
PDB 5EPP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01694 Rhomboid 60 213 Rhomboid family Family
Tissue specificity TISSUE SPECIFICITY: Expressed strongly in testis.
Sequence
MQRRSRGINTGLILLLSQIFHVGINNIPPVTLATLALNIWFFLNPQKPLYSSCLSVEKCY
QQKDWQRLLLSPLHHADDWHLYFNMASMLWKGINLERRLGSRWFAYVITAFSVLTGVVYL
LLQFAVAEFMDEPDFKRSCAVGFSGVLFALKVLNNHYCPGGFVNILGFPVPNRFACWVEL
VAIHLFSPGTSFAGHLAGILVGLMYTQGPLKKI
MEACAGGFSSSVGYPGRQYYFNSSGSS
GYQDYYPHGRPDHYEEAPRNYDTYTAGLSEEEQLERALQASLWDRGNTRNSPPPYGFHLS
PEEMRRQRLHRFDSQ
Sequence length 315
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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 Evidence Score
MUCOCUTANEOUS LYMPH NODE SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RESPIRATORY TRACT INFECTIOUS DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION GWAS catalog
★★☆☆☆
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 30143535 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 23883433 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 30286765, 30483390, 31243644
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 30286765 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 32528541 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 23534782 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 34581421 Associate
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic Neoplasms BEFREE 29426364
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 25695376, 26300397, 28445956, 29426364, 31693935
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 22624035, 30286765 Associate
★☆☆☆☆
Found in Text Mining only