SEPHS2 selenophosphate synthetase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SEPHS2provided by HGNC
Official Full Name: selenophosphate synthetase 2provided by HGNC
Primary source: HGNC:HGNC:19686
See related: Ensembl:ENSG00000179918 MIM:606218; AllianceGenome:HGNC:19686
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SPS2
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]
Orthologs: mouse all
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Genomic context

Location:: 16p11.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (30443631..30445874, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (30829870..30832113, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (30454952..30457195, complement)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Structural analysis of human SEPHS2 protein, a selenocysteine machinery component, over-expressed in triple negative breast cancer.
Title: Structural analysis of human SEPHS2 protein, a selenocysteine machinery component, over-expressed in triple negative breast cancer.
Data confirm interactions among components of the early steps of the selenocysteine biosynthesis pathway (SEPSECS, SECP43, SEPHS1, and SEPHS2); SECP43, which interacts with SEPSECS and SEPHS1, is a globular protein that forms oligomers in vivo.
Title: Analysis of Novel Interactions between Components of the Selenocysteine Biosynthesis Pathway, SEPHS1, SEPHS2, SEPSECS, and SECp43.
miR-185 plays a role in up-regulation of GPX2 and SEPHS2 expression.In the case of SEPHS2 this may contribute to maintaining selenoprotein synthesis.
Title: Selenium alters miRNA profile in an intestinal cell line: evidence that miR-185 regulates expression of GPX2 and SEPSH2.
the Sps1-encoded enzyme depends on a selenium salvage system that recycles l-selenocysteine, whereas the Sps2 enzyme can function with a selenite assimilation system
Title: Selenophosphate synthetase genes from lung adenocarcinoma cells: Sps1 for recycling L-selenocysteine and Sps2 for selenite assimilation.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables selenide, water dikinase activity	IBA Inferred from Biological aspect of Ancestor more info
enables selenide, water dikinase activity	NAS Non-traceable Author Statement more info	PubMed
enables selenide, water dikinase activity	TAS Traceable Author Statement more info

Process	Evidence Code	Pubs
involved_in selenium compound metabolic process	IEA Inferred from Electronic Annotation more info
involved_in selenocysteine biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in selenocysteine biosynthetic process	NAS Non-traceable Author Statement more info	PubMed
involved_in selenocysteine metabolic process	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: selenide, water dikinase 2

Names: selenium donor protein 2; selenophosphate synthase 2; selenoprotein SEPHS2

NP_036380.2

EC 2.7.9.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_012248.4 → NP_036380.2 selenide, water dikinase 2

See identical proteins and their annotated locations for NP_036380.2

Status: REVIEWED

Source sequence(s)

BC002381, DA550938

Consensus CDS

CCDS42150.1

UniProtKB/Swiss-Prot

Q99611, Q9BUQ2

UniProtKB/TrEMBL

Q8NAW0

Related

ENSP00000418669.3, ENST00000478753.5

Conserved Domains (2) summary

cd02195
Location:51 → 407

SelD; Selenophosphate synthetase (SelD) catalyzes the conversion of selenium to selenophosphate which is required by a number of bacterial, archaeal and eukaryotic organisms for synthesis of Secys-tRNA, the precursor of selenocysteine in selenoenzymes. The ...

TIGR00476
Location:50 → 383

selD; selenium donor protein