TEX14 testis expressed 14, intercellular bridge forming factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: TEX14provided by HGNC
Official Full Name: testis expressed 14, intercellular bridge forming factorprovided by HGNC
Primary source: HGNC:HGNC:11737
See related: Ensembl:ENSG00000121101 MIM:605792; AllianceGenome:HGNC:11737
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: CT113; SPGF23; SgK307
Summary: The protein encoded by this gene is necessary for intercellular bridges in germ cells, which are required for spermatogenesis. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]
Expression: Restricted expression toward testis (RPKM 18.9) See more
Orthologs: mouse all
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Genomic context

Location:: 17q22

Exon count:: 33

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (58556678..58692045, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (59424548..59559911, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (56634039..56769406, complement)

Chromosome 17 - NC_000017.11 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: 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?

Inhibition mechanism of testis-expressed gene 14 (TEX14) in cytokinetic abscission: Well-tempered metadynamics simulation studies.
Title: Inhibition mechanism of testis-expressed gene 14 (TEX14) in cytokinetic abscission: Well-tempered metadynamics simulation studies.
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.
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.
Tex14 is an important mediator of kinetochore structure and function and the fidelity of chromosome separation.
Title: Tex14, a Plk1-regulated protein, is required for kinetochore-microtubule attachment and regulation of the spindle assembly checkpoint.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent.
TEX14 prevents the completion of cytokinesis by altering the destiny of CEP55 from a nidus for abscission to an integral component of the intercellular bridge.
Title: TEX14 interacts with CEP55 to block cell abscission.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Association of mitotic regulation pathway polymorphisms with pancreatic cancer risk and outcome.
TEX14, also known as SgK307, contains a variant and probably inactive protein kinase domain and N-terminal ankyrin repeats.
Title: The protein kinase complement of the human genome.
TEX14 is specifically expressed in testis
Title: An abundance of X-linked genes expressed in spermatogonia.

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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

Associated conditions

Description	Tests
Spermatogenic failure 23 MedGen: C4540185 OMIM: 617707 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies four new loci associated with testicular germ cell tumor. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

PMC310730P2 (e-PCR)
- UniSTS:272660

SHGC-173542 (e-PCR)
- UniSTS:185388

G42610 (e-PCR)
- UniSTS:94511

GDB:372479 (e-PCR)
- UniSTS:76652

G42200 (e-PCR)
- UniSTS:93303

G65775 (e-PCR)
- UniSTS:225920

G42210 (e-PCR)
- UniSTS:93313

G42237 (e-PCR)
- UniSTS:93340

G42239 (e-PCR)
- UniSTS:93342

G42240 (e-PCR)
- UniSTS:93343

SHGC-112028 (e-PCR)
- UniSTS:183021

SHGC-110590 (e-PCR)
- UniSTS:167922

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase activity	IEA Inferred from Electronic Annotation more info
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in attachment of spindle microtubules to kinetochore	IBA Inferred from Biological aspect of Ancestor more info
involved_in attachment of spindle microtubules to kinetochore	ISS Inferred from Sequence or Structural Similarity more info
involved_in cell division	IEA Inferred from Electronic Annotation more info
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in intercellular bridge organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in intercellular bridge organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in male meiotic nuclear division	IBA Inferred from Biological aspect of Ancestor more info
involved_in male meiotic nuclear division	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic sister chromatid separation	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic sister chromatid separation	ISS Inferred from Sequence or Structural Similarity more info
involved_in mitotic spindle assembly checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic spindle assembly checkpoint signaling	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cytokinesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in extracellular exosome	HDA more info	PubMed
is_active_in intercellular bridge	IBA Inferred from Biological aspect of Ancestor more info
located_in intercellular bridge	ISS Inferred from Sequence or Structural Similarity more info
is_active_in kinetochore	IBA Inferred from Biological aspect of Ancestor more info
located_in kinetochore	ISS Inferred from Sequence or Structural Similarity more info
is_active_in midbody	IBA Inferred from Biological aspect of Ancestor more info
located_in midbody	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: inactive serine/threonine-protein kinase TEX14

Names: cancer/testis antigen 113; protein kinase-like protein SgK307; sugen kinase 307; testis-expressed protein 14; testis-expressed sequence 14 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_047169.1 RefSeqGene

Range

5035..140402

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001201457.2 → NP_001188386.1 inactive serine/threonine-protein kinase TEX14 isoform c

See identical proteins and their annotated locations for NP_001188386.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (c).

Source sequence(s)

AI243203, AL834143, BC040526, CB044007, DB086121

Consensus CDS

CCDS56042.1

UniProtKB/Swiss-Prot

A6NH19, Q7RTP3, Q8IWB6, Q8ND97, Q9BXT9

Related

ENSP00000240361.8, ENST00000240361.12

Conserved Domains (4) summary

cd00204
Location:27 → 125

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd14011
Location:175 → 513

PK_SCY1_like; Pseudokinase domain of Scy1-like proteins

pfam12796
Location:27 → 119

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:27 → 53

ANK; ANK repeat [structural motif]
NM_031272.5 → NP_112562.3 inactive serine/threonine-protein kinase TEX14 isoform b

See identical proteins and their annotated locations for NP_112562.3

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon and lacks an alternate in-frame exon compared to variant 3. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform c.

Source sequence(s)

AI243203, BK000998, CB044007, DB086121

Consensus CDS

CCDS32692.1

UniProtKB/Swiss-Prot

Q8IWB6

Related

ENSP00000268910.8, ENST00000349033.10

Conserved Domains (4) summary

cd00204
Location:27 → 125

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd14011
Location:175 → 507

PK_SCY1_like; Pseudokinase domain of Scy1-like proteins

pfam12796
Location:27 → 119

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:27 → 53

ANK; ANK repeat [structural motif]
NM_198393.4 → NP_938207.2 inactive serine/threonine-protein kinase TEX14 isoform a

See identical proteins and their annotated locations for NP_938207.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 3. The resulting isoform (a) has the same N- and C-termini but is shorter compared to isoform c.

Source sequence(s)

AI243203, AL834143, CB044007, DB086121

Consensus CDS

CCDS32693.1

UniProtKB/Swiss-Prot

Q8IWB6

Related

ENSP00000374584.3, ENST00000389934.7

Conserved Domains (4) summary

cd00204
Location:27 → 125

ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...

cd14011
Location:175 → 507

PK_SCY1_like; Pseudokinase domain of Scy1-like proteins

pfam12796
Location:27 → 119

Ank_2; Ankyrin repeats (3 copies)

sd00045
Location:27 → 53

ANK; ANK repeat [structural motif]