SPANXA2 SPANX family member A2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPANXA2provided by HGNC
Official Full Name: SPANX family member A2provided by HGNC
Primary source: HGNC:HGNC:14328
See related: Ensembl:ENSG00000203926 MIM:300493; AllianceGenome:HGNC:14328
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: SPANX; CT11.1; CT11.3; SPANXA; SPANXC; SPANX-A; SPANX-C
Summary: Temporally regulated transcription and translation of several testis-specific genes is required to initiate the series of molecular and morphological changes in the male germ cell lineage necessary for the formation of mature spermatozoa. This gene is a member of the SPANX family of cancer/testis-associated genes, which are located in a cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene maps to chromosome X in a head-to-head orientation with SPANX family member A1 and appears to be a duplication of that locus. The protein encoded by this gene targets to the nucleus where it associates with nuclear vacuoles and the redundant nuclear envelope. Based on its association with these poorly characterized regions of the sperm nucleus, this protein provides a biochemical marker to study unique structures in spermatazoa while attempting to further define its role in spermatogenesis. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward testis (RPKM 14.3) See more
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Genomic context

Location:: Xq27.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (141589708..141590762)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (139898434..139899488)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (140677835..140678889)

Chromosome X - NC_000023.11 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?

Hypomethylated SPANXA1/A2 promotes the metastasis of head and neck squamous cell carcinoma.
Title: Hypomethylated SPANXA1/A2 promotes the metastasis of head and neck squamous cell carcinoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: SPANX gene variation in fertile and infertile males.

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Phenotypes

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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

NoName (e-PCR)
- UniSTS:480537

NoName (e-PCR)
- UniSTS:482856

NoName (e-PCR)
- UniSTS:483687

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in spermatogenesis	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleus	HDA more info	PubMed

General protein information

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Preferred Names: sperm protein associated with the nucleus on the X chromosome A

Names: Cancer/testis antigen 11.3; Cancer/testis-associated protein CTp11; Nuclear-associated protein SPAN-Xc; SPANX family member A; Sperm protein associated with the nucleus on the X chromosome C; cancer/testis antigen 11.1; nuclear-associated protein SPAN-Xa; sperm protein associated with the nucleus, X chromosome, family member A2

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_145662.4 → NP_663695.1 sperm protein associated with the nucleus on the X chromosome A

See identical proteins and their annotated locations for NP_663695.1

Status: REVIEWED

Source sequence(s)

CB110020

Consensus CDS

CCDS44007.1

UniProtKB/Swiss-Prot

Q5JWI0, Q9NS26

UniProtKB/TrEMBL

A0FGV1, Q4KRI2

Related

ENSP00000359549.3, ENST00000370518.4

Conserved Domains (1) summary

pfam07458
Location:2 → 81

SPAN-X; Sperm protein associated with nucleus, mapped to X chromosome