Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	25807
Gene name	Rhomboid domain containing 3
Gene symbol	RHBDD3
Synonyms (NCBI Gene)	C22orf3HS984G1APTAG
Chromosome	22
Chromosome location	22q12.2

10 Show/Hide all (10)

GO ID	Ontology	Definition	Evidence
GO:0000165	Process	MAPK cascade	IEA
GO:0001889	Process	Liver development	IEA
GO:0002673	Process	Regulation of acute inflammatory response	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0032815	Process	Negative regulation of natural killer cell activation	IEA
GO:0045732	Process	Positive regulation of protein catabolic process	IEA
GO:0050708	Process	Regulation of protein secretion	IEA

MIM	HGNC	e!Ensembl
HGNC	N/A	HGNC

Q9Y3P4

Protein name

Rhomboid domain-containing protein 3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00627	UBA	324 → 359	UBA/TS-N domain	Domain
PF01694	Rhomboid	44 → 187	Rhomboid family	Family

Sequence

MHARGPHGQLSPALPLASSVLMLLMSTLWLVGAGPGLVLAPELLLDPWQVHRLLTHALGH
TALPGLLLSLLLLPTVGWQQECHLGTLRFLHASALLALASGLLAVLLAGLGLSSAAGSCG
YMPVHLAMLAGEGHRPRRPRGALPPWLSPWLLLALTPLLSSEPPFLQLLCGLLAGLAYAA
GAFRWLEPSERRLQVLQEGVLCRTLAGCWPLRLLATPGSLAELPVTHPAGVRPPIPGPPY
VASPDLWSHWEDSALPPPSLRPVQPTWEGSSEAGLDWAGASFSPGTPMWAALDEQMLQEG
IQASLLDGPAQEPQSAPWLSKSSVSSLRLQQLERMGFPTEQAVVALAATGRVEGAVSLLV
GGQVGTETLVTHGKGGPAHSEGPGPP

Sequence length

386

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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.
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	17117413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15105437		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pituitary Adenoma	Pituitary adenoma	BEFREE	24367530		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	34630418	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Genes Genes most often co-reported with RHBDD3 across shared curated disease and pathway associations. 0 Download as csv Download as pdf
No strongly related genes found yet for RHBDD3.

Diseases Linked via Similar Genes Diseases curated for genes most similar to RHBDD3 (see Related Genes above), that are NOT already directly curated for RHBDD3 itself -- a lead worth checking, not a confirmed association. 0 Download as csv Download as pdf
No additional diseases found yet through genes similar to RHBDD3.

RHBDD3 (rhomboid domain containing 3)

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