RHBDL2 - rhomboid like 2 Gene

Also Known as RRP2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 54933

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 References 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 References 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

Rhomboid: Rhomboid family (115 - 266)

  • 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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS11936 RHBDL2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21185 Rhbdl2 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27701 Rhbdl2 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others RHBDL2 NCBI