SPATA4 spermatogenesis associated 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPATA4provided by HGNC
Official Full Name: spermatogenesis associated 4provided by HGNC
Primary source: HGNC:HGNC:17333
See related: Ensembl:ENSG00000150628 MIM:609879; AllianceGenome:HGNC:17333
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FAP178; SPEF1B; TSARG2; CFAP178
Summary: Predicted to enable microtubule binding activity. Predicted to be involved in regulation of cytoskeleton organization. Predicted to be located in cytoplasm and nucleus. Predicted to be active in axoneme. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Restricted expression toward testis (RPKM 71.0) See more
Orthologs: mouse all
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Genomic context

Location:: 4q34.2

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (176184579..176195585, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (179522953..179533935, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (177105730..177116736, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SPATA4 improves aging-induced metabolic dysfunction through promotion of preadipocyte differentiation and adipose tissue expansion.
Title: SPATA4 improves aging-induced metabolic dysfunction through promotion of preadipocyte differentiation and adipose tissue expansion.
Increased DNA methylation in the spermatogenesis-associated (SPATA) genes correlates with infertility.
Title: Increased DNA methylation in the spermatogenesis-associated (SPATA) genes correlates with infertility.
SPATA4 protects HeLa cells against etoposide-induced apoptosis through the mitochondrial apoptotic pathway, providing further evidence that SPATA4 plays a role in regulating apoptosis
Title: SPATA4 Counteracts Etoposide-Induced Apoptosis via Modulating Bcl-2 Family Proteins in HeLa Cells.
Results suggest a role for SPATA4 in membrane traffic and a specialized function for TRAPP in spermatocytes.
Title: A yeast two hybrid screen identifies SPATA4 as a TRAPP interactor.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
analysis of SPATA4 expression and variation in promotor sequences
Title: Molecular cloning and bioinformatic analysis of SPATA4 gene.
TSARG2 may play an important role in the development of cryptorchid testis and be a testis-specific apoptosis candidate oncogene
Title: Cloning of a full-length cDNA of human testis-specific spermatogenic cell apoptosis inhibitor TSARG2 as a candidate oncogene.
expressed in many tissues and mapped to chromosome 4q33-34.1 by database analyses
Title: [Rapid identification of human testis spermatocyte apoptosis-related gene, TSARG2, by nested PCR and draft human genome searching].

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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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of spermatogenesis associated 4 (SPATA4) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells	PubMed

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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 microtubule binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in regulation of cytoskeleton organization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: spermatogenesis-associated protein 4

Names: testis and spermatogenesis cell related protein 2; testis spermatocyte apoptosis-related gene 2 protein

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.