1. Gene
  2. RHBDL3 - rhomboid like 3 Gene

RHBDL3 - rhomboid like 3 Gene

Homo sapiens

Also known as VRHO; RHBDL4

Gene ID: 162494 | Gene type: protein coding

About RHBDL3

Cytogenetic location: 17q11.2 Genomic coordinates (GRCh38): 17:32,265,832-32,324,661 (from NCBI)

This gene has 6 transcripts (splice variants), 215 orthologues and 5 paralogues. Biased expression in brain (RPKM 5.3), adrenal (RPKM 1.6) and 5 other tissues.

Summary

Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

RHBDL3 Products(5)

mRNA Protein Name
NM_001330181.2 NP_001317110.1 rhomboid-related protein 3 isoform 2
NM_001363834.1 NP_001350763.1 rhomboid-related protein 3 isoform 4
NM_001363835.1 NP_001350764.1 rhomboid-related protein 3 isoform 3
NM_001363836.1 NP_001350765.1 rhomboid-related protein 3 isoform 5
NM_138328.3 NP_612201.1 rhomboid-related protein 3 isoform 1

RHBDL3 Protein Structure

EF-hand_7

EF-hand_7: EF-hand domain pair (42 - 99)

Rhomboid

Rhomboid: Rhomboid family (207 - 360)

  • 0
  • 100
  • 200
  • 300
  • 404 a.a.
Protein Preferred Names Protein Names

rhomboid-related protein 3

rhomboid, veinlet-like 3

Related Diseases

Diseases Alias
Benign Mammary Dysplasia
Diffuse Idiopathic Skeletal Hyperostosis

Hyperostosis, Diffuse Idiopathic Skeletal

Ankylosing Vertebral Hyperostosis

Dish

Disseminated Idiopathic Skeletal Hyperostosis

Forestier Disease

Forestier'S Disease

Hyperostosis Diffuse Idiopathic Skeletal

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

Orthologs Information

Species Symbol Source ID
Felis catus RHBDL3 VGNC VGNC:64607
Canis familiaris RHBDL3 VGNC VGNC:49700
Macaca mulatta RHBDL3 VGNC VGNC:76744
Rattus norvegicus RHBDL3 RGD RGD:1311901
Mus musculus RHBDL3 MGD MGI:2179276
Bos taurus RHBDL3 VGNC VGNC:33937