TEX14

testis expressed 14, intercellular bridge forming factor, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 17:58556677-58692055

Links

ENSG00000121101 ∙ NCBI:56155 ∙ OMIM:605792 ∙ HGNC:11737 ∙ Uniprot:Q8IWB6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• male infertility with azoospermia or oligozoospermia due to single gene mutation (Supportive), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spermatogenic failure 23	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Genitourinary	28206990

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TEX14 gene.

• Inborn genetic diseases (72 variants)
• not provided (15 variants)
• Non-obstructive azoospermia (11 variants)
• Spermatogenic failure 23 (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEX14 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	2	5
missense		1	66	8	3	78
nonsense	3	1				4
start loss						0
frameshift	2					2
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				2	1	3
non coding						0
Total	5	2	66	11	5

Highest pathogenic variant AF is 0.000210

Variants in TEX14

This is a list of pathogenic ClinVar variants found in the TEX14 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-58557043-T-C		not specified	Uncertain significance (Mar 01, 2024)
17-58557817-C-A		not specified	Uncertain significance (Jan 24, 2023)
17-58559493-T-C		TEX14-related disorder	Benign (Oct 16, 2019)
17-58559547-T-C		TEX14-related disorder	Benign (Nov 08, 2019)
17-58559561-C-T		Non-obstructive azoospermia	Uncertain significance (Jun 07, 2020)
17-58559572-C-T		TEX14-related disorder	Likely benign (Jun 25, 2019)
17-58561539-G-A			Benign (May 21, 2018)
17-58561554-C-T		not specified	Likely benign (Aug 17, 2021)
17-58561571-T-G		Non-obstructive azoospermia	Uncertain significance (Aug 23, 2021)
17-58564881-T-C		not specified	Uncertain significance (Nov 09, 2021)
17-58565748-A-G		TEX14-related disorder	Benign (Oct 17, 2019)
17-58565804-C-A		not specified	Uncertain significance (Apr 25, 2022)
17-58569236-A-G		not specified	Uncertain significance (Jan 31, 2024)
17-58569254-G-A		not specified	Uncertain significance (Sep 27, 2021)
17-58569261-C-T		Spermatogenic failure 23	Conflicting classifications of pathogenicity (Jan 08, 2020)
17-58571914-T-C			Likely benign (Jun 01, 2023)
17-58571941-G-A		not specified	Uncertain significance (Nov 09, 2021)
17-58571973-A-G		not specified	Uncertain significance (Oct 16, 2023)
17-58571979-T-C		not specified	Uncertain significance (Dec 12, 2022)
17-58571986-T-A		Spermatogenic failure 23	Likely pathogenic (Oct 21, 2022)
17-58572009-TCAGA-T		Non-obstructive azoospermia	Pathogenic (Aug 23, 2021)
17-58572012-G-C		not specified	Uncertain significance (May 18, 2022)
17-58572089-G-T		Non-obstructive azoospermia	Pathogenic (Aug 23, 2021)
17-58573205-TGGTAG-T		Non-obstructive azoospermia	Pathogenic (Aug 23, 2021)
17-58573217-G-A		not specified	Uncertain significance (Dec 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TEX14	protein_coding	protein_coding	ENST00000240361	32	135378

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.14e-36	0.0143	125410	0	337	125747	0.00134

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.406	831	799	1.04	0.0000417	9842
Missense in Polyphen		252	219.43	1.1484		2696
Synonymous	0.484	293	304	0.965	0.0000175	2817
Loss of Function	1.90	65	83.8	0.776	0.00000434	989

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000963	0.000958
Ashkenazi Jewish	0.00	0.00
East Asian	0.000654	0.000653
Finnish	0.00245	0.00245
European (Non-Finnish)	0.00189	0.00188
Middle Eastern	0.000654	0.000653
South Asian	0.000934	0.000915
Other	0.000981	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required both for the formation of intercellular bridges during meiosis and for kinetochore-microtubule attachment during mitosis. Intercellular bridges are evolutionarily conserved structures that connect differentiating germ cells and are required for spermatogenesis and male fertility. Acts by promoting the conversion of midbodies into intercellular bridges via its interaction with CEP55: interaction with CEP55 inhibits the interaction between CEP55 and PDCD6IP/ALIX and TSG101, blocking cell abscission and leading to transform midbodies into intercellular bridges. Also plays a role during mitosis: recruited to kinetochores by PLK1 during early mitosis and regulates the maturation of the outer kinetochores and microtubule attachment. Has no protein kinase activity in vitro (By similarity). {ECO:0000250}.
• Disease: DISEASE: Spermatogenic failure 23 (SPGF23) [MIM:617707]: An infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia. {ECO:0000269|PubMed:28206990}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Intolerance Scores

• loftool: 0.360
• rvis_EVS: -0.87
• rvis_percentile_EVS: 10.6

Haploinsufficiency Scores

• pHI: 0.270
• hipred: N
• hipred_score: 0.145
• ghis: 0.402

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.302

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Tex14
• Phenotype: reproductive system phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: protein phosphorylation;mitotic spindle assembly checkpoint;male meiotic nuclear division;attachment of spindle microtubules to kinetochore;negative regulation of protein binding;negative regulation of cytokinesis;intercellular bridge organization;cell division;mitotic sister chromatid separation;cellular response to leukemia inhibitory factor
• Cellular component: kinetochore;condensed chromosome kinetochore;cell;cytoplasm;midbody;intercellular bridge;extracellular exosome
• Molecular function: protein kinase activity;protein binding;ATP binding;protein kinase binding