1. Gene
  2. SEPHS2 - selenophosphate synthetase 2 Gene

SEPHS2 - selenophosphate synthetase 2 Gene

Homo sapiens

Also known as SPS2

Gene ID: 22928 | Gene type: protein coding

About SEPHS2

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,443,631-30,445,874 (from NCBI)

This gene has 1 transcript (splice variant), 181 orthologues and 1 paralogue.

Summary

This gene encodes an Enzyme that catalyzes the production of monoselenophosphate (MSP) from selenide and ATP. MSP is the selenium donor required for synthesis of selenocysteine (Sec), which is co-translationally incorporated into selenoproteins at in-frame UGA codons that normally signal translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, the Sec insertion sequence (SECIS) element, which is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. This protein is itself a selenoprotein containing a Sec residue at its active site, suggesting the existence of an autoregulatory mechanism. It is preferentially expressed in tissues implicated in the synthesis of selenoproteins and in sites of blood cell development. A pseudogene for this locus has been identified on chromosome 5. [provided by RefSeq, May 2017]

SEPHS2 Products(1)

mRNA Protein Name
NM_012248.4 NP_036380.2 selenide, water dikinase 2
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
33961781 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

SEPHS2 Protein Structure

AIRS

AIRS: AIR synthase related protein, N-terminal domain (119 - 215)

AIRS_C

AIRS_C: AIR synthase related protein, C-terminal domain (244 - 417)

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  • 448 a.a.
Protein Preferred Names Protein Names

selenide, water dikinase 2

selenium donor protein 2

Related Diseases

Diseases Alias
Keshan Disease

Caused By Deficiency Of Selenium In The Diet

Enlarged Heart And Poor Heart Function

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 SEPHS2 VGNC VGNC:82350
Rattus norvegicus SEPHS2 RGD RGD:1308827
Mus musculus SEPHS2 MGD MGI:108388
Macaca mulatta SEPHS2 VGNC VGNC:77277
Bos taurus SEPHS2 VGNC VGNC:54480