RHBDD2 - rhomboid domain containing 2 Gene

Also Known as NPD007; RHBDL7

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57414

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 References 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

Rhomboid: Rhomboid family (56 - 201)

  • 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

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 Set / 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
Others RHBDD2 NCBI