SPANXC SPANX family member C [Homo sapiens (human)] - Gene

Summary

Official Symbol: SPANXCprovided by HGNC
Official Full Name: SPANX family member Cprovided by HGNC
Primary source: HGNC:HGNC:14331
See related: Ensembl:ENSG00000198573 MIM:300330; AllianceGenome:HGNC:14331
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: CTp11; CT11.3; SPANXE; SPANX-C; SPANX-E
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, which is located in a gene cluster on chromosome X. The SPANX genes encode differentially expressed testis-specific proteins that localize to various subcellular compartments. This particular gene encodes a protein that localizes to the nucleus and is expressed in highly metastatic cell lines, making the protein a potential diagnostic and prognostic marker. The protein belongs to a family of cancer/testis antigens and represents a potential target for cancer immunotherapy. [provided by RefSeq, Jul 2008]
Expression: Restricted expression toward testis (RPKM 12.8) 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 (141241463..141242517, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (139558834..139559888, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X (PATCHES)	NW_004070888.1 (337266..338320, complement)

Chromosome X - NC_000023.11 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: 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?

Our study examined SPANX-C expression levels in primary uveal melanoma both with and without metastasis to assess if they can be used to predict metastasis. A significantly high expression of SPANX-C was seen in patients with metastasis compared to patients without metastasis.
Title: Immunoexpression of SPANX-C in metastatic uveal melanoma.
High SPANXC expression is associated with breast cancer invasion.
Title: The cancer-testis antigens SPANX-A/C/D and CTAG2 promote breast cancer invasion.
study reports the isolation of AKAP3 and CTp11 Cancer/testis antigens from hepatocellular carcinoma patient sera
Title: Identification of the cancer/testis antigens AKAP3 and CTp11 by SEREX in hepatocellular carcinoma.
SPANX-C gene dosage analysis in Down's syndrome subjects with undescended testes
Title: SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down's syndrome subjects with undescended testes.
genetic variability of SPANX-B & SPANX-C in a sample of Sicilian male population including patients with cutaneous melanoma; statistical significant difference for a particular class of SPANX-C gene was found comparing patients with melanoma & controls
Title: SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: SPANX gene variation in fertile and infertile males.
SPANXC was found in ejaculated spermatozoa and spermatids.
Title: Expression of SPANX proteins in human-ejaculated spermatozoa and sperm precursors.

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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

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
located_in nucleus	TAS Traceable Author Statement more info	PubMed

General protein information

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

Names: Nuclear-associated protein SPAN-Xe; SPAN-Xc protein; Sperm protein associated with the nucleus on the X chromosome E; cancer-testis-associated protein CTp11; cancer/testis antigen 11.3; cancer/testis antigen family 11, member 3; cancer/testis-associated protein of 11 kD; nuclear-associated protein SPAN-Xc; sperm protein associated with the nucleus, X chromosome, family member C

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.