RHBDL2 - rhomboid like 2 Gene

Homo sapiens

Also known as RRP2

Gene ID: 54933 | Gene type: protein coding

About RHBDL2

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:38,885,807-38,941,830 (from NCBI)

This gene has 3 transcripts (splice variants), 196 orthologues and 5 paralogues. Biased expression in colon (RPKM 9.9), skin (RPKM 6.4) and 10 other tissues.

Summary

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 thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including Ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]

RHBDL2 Products(2)

mRNA	Protein	Name
NM_001304746.2	NP_001291675.1	rhomboid-related protein 2 isoform 1
NM_017821.5	NP_060291.2	rhomboid-related protein 2 isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables serine-type endopeptidase activity	IDA IDA: Inferred from direct assay	19850051	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	19850051	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

RHBDL2 Protein Structure

Rhomboid

0
100
200
303 a.a.

Protein Preferred Names

Protein Names

rhomboid-related protein 2

rhomboid (veinlet, Drosophila)-like 2

Related Diseases

Diseases

Alias

Benign Mammary Dysplasia

Nipah Virus Encephalitis

Equine Morbillivirus

Hypomagnesemia 3, Renal

HOMG3	Renal Hypomagnesemia 3
Fhhnc Without Severe Ocular Involvement	Renal Hypomagnesemia Type 3
Hypomagnesemia, Primary, Due To Defect In Renal Tubular Transport Of Magnesium	Hypomagnesemia, Isolated Renal
Hypomagnesemia, Familial, With Hypercalciuria And Nephrocalcinosis	Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement
Isolated Renal Hypomagnesemia	Primary Hypomagnesemia Due To Defect In Renal Tubular Transport Of Magnesium
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement	Hypomagnesemia 3
Familial Hypomagnesemia With Hypercalciuria And Nephrocalcinosis	Fhhnc
Hhn	Renal Hypomagnesemia Hypercalciuria Nephrocalcinosis
Hypomagnesemia, Type 3, Renal	Primary Hypomagnesemia

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-RS11936	RHBDL2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	RHBDL2	VGNC	VGNC:33936
Felis catus	RHBDL2	VGNC	VGNC:64606
Canis familiaris	RHBDL2	VGNC	VGNC:45549
Mus musculus	RHBDL2	MGD	MGI:3608413
Rattus norvegicus	RHBDL2	RGD	RGD:1308295
Macaca mulatta	RHBDL2	VGNC	VGNC:76741

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