SPANXD SPANX family member D [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPANXDprovided by HGNC
Official Full Name: SPANX family member Dprovided by HGNC
Primary source: HGNC:HGNC:14332
See related: Ensembl:ENSG00000196406 MIM:300670; AllianceGenome:HGNC:14332
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: CT11.3; CT11.4; SPANXC; SPANXE; SPANX-C; SPANX-D; SPANX-E; dJ171K16.1
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 encodes a sperm protein that is associated with the nucleus but, although a role in spermatogenesis is suggested, the specific function of this family member has not yet been determined. Polymorphisms in this gene may be associated with prostate cancer susceptibility. [provided by RefSeq, Apr 2014]
Expression: Restricted expression toward testis (RPKM 8.6) See more
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Genomic context

Location:: Xq27.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (141697411..141698739, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (140006161..140007489, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (140785568..140786896, complement)

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: 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?

High SPANXD expression is associated with breast cancer invasion.
Title: The cancer-testis antigens SPANX-A/C/D and CTAG2 promote breast cancer invasion.
Observational study of gene-disease association. (HuGE Navigator)
Title: SPANX gene variation in fertile and infertile males.

Submit: New GeneRIF Correction

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

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

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 D

Names: Cancer/testis antigen 11.3; Cancer/testis-associated protein CTp11; Nuclear-associated protein SPAN-Xc; SPANX family, member E; Sperm protein associated with the nucleus on the X chromosome C; cancer/testis antigen 11.4; cancer/testis antigen family 11, member 4; nuclear-associated protein SPAN-Xd; nuclear-associated protein SPAN-Xe; sperm protein associated with the nucleus, X chromosome, family member D; sperm protein associated with the nucleus, X chromosome, family member E

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.