1. Gene
  2. SIAH2 - siah E3 ubiquitin protein ligase 2 Gene

SIAH2 - siah E3 ubiquitin protein ligase 2 Gene

Homo sapiens

Also known as hSiah2

Gene ID: 6478 | Gene type: protein coding

About SIAH2

Cytogenetic location: 3q25.1 Genomic coordinates (GRCh38): 3:150,741,125-150,763,169 (from NCBI)

This gene has 3 transcripts (splice variants), 198 orthologues and 3 paralogues. Ubiquitous expression in adrenal (RPKM 42.6), placenta (RPKM 22.5) and 24 other tissues.

Summary

This gene encodes a protein that is a member of the seven in absentia homolog (SIAH) family. The protein is an E3 ligase and is involved in ubiquitination and proteasome-mediated degradation of specific proteins. The activity of this ubiquitin ligase has been implicated in regulating cellular response to hypoxia. [provided by RefSeq, Jul 2008]

SIAH2 Products(1)

mRNA Protein Name
NM_005067.7 NP_005058.3 E3 ubiquitin-protein ligase SIAH2

SIAH2 Protein Structure

Sina

Sina: Seven in absentia protein family (122 - 318)

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

E3 ubiquitin-protein ligase SIAH2

RING-type E3 ubiquitin transferase SIAH2

Related Diseases

Diseases Alias
Dyskeratosis Congenita, Autosomal Dominant 3

DKCA3

Autosomal Dominant Dyskeratosis Congenita 3

Dyskeratosis Congenita, Autosomal Dominant, 3

Dyskeratosis Congenita, Autosomal Dominant, Type 3

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 SIAH2 VGNC VGNC:102843
Macaca mulatta SIAH2 VGNC VGNC:77215
Bos taurus SIAH2 VGNC VGNC:34614
Mus musculus SIAH2 MGD MGI:108062
Rattus norvegicus SIAH2 RGD RGD:620778