SPATA12 spermatogenesis associated 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPATA12provided by HGNC
Official Full Name: spermatogenesis associated 12provided by HGNC
Primary source: HGNC:HGNC:23221
See related: Ensembl:ENSG00000186451 MIM:609869; AllianceGenome:HGNC:23221
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: SRG5
Summary: This gene is expressed primarily in testis and may play a role in testicular development and spermatogenesis. The encoded protein may be upregulated in response to ultraviolet-C radiation. [provided by RefSeq, Dec 2015]
Expression: Restricted expression toward testis (RPKM 5.7) See more
Orthologs: all
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Genomic context

Location:: 3p14.3

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (57060664..57075432)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (57100956..57115733)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (57094692..57109460)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SPATA12 could be induced under UV-C stress.
Title: SPATA12 and its possible role in DNA damage induced by ultraviolet-C.
AP-1 is founded to be a potential transcriptional activator of SPATA12. The promoter activity of SPATA12 was drastically declined after AP-1 binding site mutation or deletion.
Title: Transcriptional regulation of human novel gene SPATA12 promoter by AP-1 and HSF.
putative function of SPATA12 is to maintain the cell in a differentiated state and/or to suppress cell proliferation in the human testis.
Title: Expression and possible functions of a novel gene SPATA12 in human testis.
Didital differential display can be confirmed by SPATA12 as a novel computational biology-based approach for identification of the testis-specific expression of genes.
Title: Identification and expression of a novel human testis-specific gene by digital differential display.

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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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Markers

RH102548 (e-PCR)
- UniSTS:96882

NoName (e-PCR)
- UniSTS:495267

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: spermatogenesis-associated protein 12

Names: spermatogenesis-related protein 5; testicular tissue protein Li 184

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.