RHBDD2 - rhomboid domain containing 2 Gene

Homo sapiens

Also known as NPD007; RHBDL7

Gene ID: 57414 | Gene type: protein coding

About RHBDD2

Cytogenetic location: 7q11.23 Genomic coordinates (GRCh38): 7:75,879,034-75,888,926 (from NCBI)

This gene has 9 transcripts (splice variants), 190 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 72.8), adrenal (RPKM 57.9) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the rhomboid family of membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]

RHBDD2 Products(6)

mRNA	Protein	Name
NM_001040456.3	NP_001035546.1	rhomboid domain-containing protein 2 isoform a
NM_001040457.3	NP_001035547.1	rhomboid domain-containing protein 2 isoform b
NM_001346186.2	NP_001333115.1	rhomboid domain-containing protein 2 isoform b
NM_001346187.2	NP_001333116.1	rhomboid domain-containing protein 2 isoform b
NM_001346188.2	NP_001333117.1	rhomboid domain-containing protein 2 isoform c
NM_001346189.2	NP_001333118.1	rhomboid domain-containing protein 2 isoform d

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RHBDD2 Protein Structure

Rhomboid

0
100
200
300
364 a.a.

Protein Preferred Names

Protein Names

rhomboid domain-containing protein 2

rhomboid, veinlet-like 7

Related Diseases

Diseases

Alias

Benign Mammary Dysplasia

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11932	RHBDD2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	RHBDD2	RGD	RGD:1308231
Macaca mulatta	RHBDD2	VGNC	VGNC:76804
Felis catus	RHBDD2	VGNC	VGNC:64603
Canis familiaris	RHBDD2	VGNC	VGNC:45544
Mus musculus	RHBDD2	MGD	MGI:1915612
Bos taurus	RHBDD2	VGNC	VGNC:33931

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