TEX11 testis expressed 11 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TEX11provided by HGNC
Official Full Name: testis expressed 11provided by HGNC
Primary source: HGNC:HGNC:11733
See related: Ensembl:ENSG00000120498 MIM:300311; AllianceGenome:HGNC:11733
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: TGC1; ZIP4; MZIP4; Spo22; TSGA3; ZIP4H; SPGFX2
Summary: This gene is X-linked and is expressed in only male germ cells. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Biased expression in pancreas (RPKM 5.2), testis (RPKM 5.1) and 1 other tissue See more
Orthologs: mouse all
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Genomic context

Location:: Xq13.1

Exon count:: 36

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (70511227..70908711, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (68944548..69342011, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (69748790..70128561, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Novel mutations of TEX11 are associated with non-obstructive azoospermia.
Title: Novel mutations of TEX11 are associated with non-obstructive azoospermia.
Downregulation of TEX11 promotes S-Phase progression and proliferation in colorectal cancer cells through the FOXO3a/COP1/c-Jun/p21 axis.
Title: Downregulation of TEX11 promotes S-Phase progression and proliferation in colorectal cancer cells through the FOXO3a/COP1/c-Jun/p21 axis.
Testis-expressed gene 11 inhibits cisplatin-induced DNA damage and contributes to chemoresistance in testicular germ cell tumor.
Title: Testis-expressed gene 11 inhibits cisplatin-induced DNA damage and contributes to chemoresistance in testicular germ cell tumor.
Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population.
Title: Association of CATSPER1, SPATA16 and TEX11 genes polymorphism with idiopathic azoospermia and oligospermia risk in Iranian population.
Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia.
Title: Targeted next-generation sequencing panel screening of 668 Chinese patients with non-obstructive azoospermia.
A new TEX11 mutation causes azoospermia and testicular meiotic arrest.
Title: A new TEX11 mutation causes azoospermia and testicular meiotic arrest.
Zinc transporter mutations linked to acrodermatitis enteropathica disrupt function and cause mistrafficking.
Title: Zinc transporter mutations linked to acrodermatitis enteropathica disrupt function and cause mistrafficking.
This result suggests that regular expression of TEX11, TEX12, TEX14 and TEX15 is essential for the early stages of spermatogenesis.
Title: Expression analysis of genes encoding TEX11, TEX12, TEX14 and TEX15 in testis tissues of men with non-obstructive azoospermia.
Data identified one novel TEX11 mutation in two brothers. The missense mutation is associated with male infertility, especially azoospermia.
Title: A novel TEX11 mutation induces azoospermia: a case report of infertile brothers and literature review.
Through the translational regulation of novel RNA targets SMC1B and TEX11, DAZL may have a key role in regulating chromosome cohesion and DNA recombination; two processes fundamental in determining oocyte quality and whose establishment in foetal life may support lifelong fertility.
Title: RNA immunoprecipitation identifies novel targets of DAZL in human foetal ovary.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

Associated conditions

Description	Tests
Spermatogenic failure, X-linked, 2 MedGen: C1839841 OMIM: 309120 GeneReviews: Not available	Compare labs

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

AB070035 (e-PCR)
- UniSTS:480284

DXS7116 (e-PCR)
- UniSTS:68893

RH99274 (e-PCR)
- UniSTS:89630

DXS7115 (e-PCR)
- UniSTS:8999

SHGC-110683 (e-PCR)
- UniSTS:167987

D1S1423 (e-PCR)
- UniSTS:149619

G65771 (e-PCR)
- UniSTS:225916

DXS8052 (e-PCR), detects polymorphism
- UniSTS:80098

DXS7113 (e-PCR)
- UniSTS:40174

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 apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in chiasma assembly	IEA Inferred from Electronic Annotation more info
involved_in ectopic germ cell programmed cell death	IEA Inferred from Electronic Annotation more info
involved_in fertilization	IEA Inferred from Electronic Annotation more info
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in male meiosis chromosome segregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in meiotic gene conversion	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of developmental process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of reproductive process	IEA Inferred from Electronic Annotation more info
involved_in reciprocal meiotic recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in reciprocal meiotic recombination	ISS Inferred from Sequence or Structural Similarity more info
involved_in resolution of meiotic recombination intermediates	IEA Inferred from Electronic Annotation more info
involved_in synaptonemal complex assembly	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in central element	IBA Inferred from Biological aspect of Ancestor more info
located_in chromosome	ISS Inferred from Sequence or Structural Similarity more info
colocalizes_with synaptonemal complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: testis-expressed protein 11

Names: ZIP4 homolog; protein ZIP4 homolog; testis expressed sequence 11; testis-expressed sequence 11 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.

Genomic

NG_012574.3 RefSeqGene

Range

5000..384771

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001003811.2 → NP_001003811.1 testis-expressed protein 11 isoform 1

See identical proteins and their annotated locations for NP_001003811.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK057523, BC036016, BG219070, BU929507

Consensus CDS

CCDS35323.1

UniProtKB/Swiss-Prot

A8K8V6, Q5JQQ8, Q8IYF3, Q96LZ4, Q96M47, Q9BXU6

Related

ENSP00000379226.2, ENST00000395889.6

Conserved Domains (2) summary

sd00006
Location:417 → 451

TPR; TPR repeat [structural motif]

pfam08631
Location:190 → 444

SPO22; Meiosis protein SPO22/ZIP4 like
NM_031276.3 → NP_112566.2 testis-expressed protein 11 isoform 2

See identical proteins and their annotated locations for NP_112566.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' region, as compared to variant 1. It uses an upstream in-frame AUG codon and encodes isoform 2 which has a shorter and distinct N-terminus, as compared to isoform 1.

Source sequence(s)

AK057391, AK057523, BC036016, BG219070, BU929507

Consensus CDS

CCDS43968.1

UniProtKB/Swiss-Prot

Q8IYF3

Related

ENSP00000363453.2, ENST00000374333.7

Conserved Domains (2) summary

sd00006
Location:402 → 436

TPR; TPR repeat [structural motif]

pfam08631
Location:175 → 429

SPO22; Meiosis protein SPO22/ZIP4 like

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

70511227..70908711 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017029649.1 → XP_016885138.1 testis-expressed protein 11 isoform X1
XM_017029650.1 → XP_016885139.1 testis-expressed protein 11 isoform X3
XM_017029651.2 → XP_016885140.1 testis-expressed protein 11 isoform X4

Related

ENSP00000363440.2, ENST00000374320.6
XM_017029652.2 → XP_016885141.1 testis-expressed protein 11 isoform X5
XM_011530994.2 → XP_011529296.1 testis-expressed protein 11 isoform X2

Conserved Domains (2) summary

sd00006
Location:402 → 436

TPR; TPR repeat [structural motif]

pfam08631
Location:175 → 429

SPO22; Meiosis protein SPO22/ZIP4 like