TEKT4

protein-coding

tektin 4, the group of Tektins

Gene summary

Predicted to be involved in cilium assembly and flagellated sperm motility. Predicted to act upstream of with a positive effect on regulation of brood size. Located in axonemal microtubule; sperm end piece; and sperm principal piece. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_144705.4

Inheritance

—

ClinVar variants

U:135B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.08

Max pathogenic AF

—

Genomic locus

chr2:94,871,430-94,876,823

External References & Databases

Ensembl (ENSG00000163060)

Transcript & Mutation Effects

hg38 • Region Span ~5.4 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TEKT4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 130

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_144705.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			133 clinvar	4 clinvar		137
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	135	6	0	141

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_144705.4	RefSeq	NP_653306.1	6	MANE Select
ENST00000295201.5	Ensembl	ENSP00000295201.4	6	MANE Select
NM_001286559.2	RefSeq	NP_001273488.1	5	Standard
ENST00000941696.1	Ensembl	ENSP00000611755.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

flagellated sperm motility
cilium assembly
cilium movement involved in cell motility

Molecular Function

protein binding

Cellular Component

nucleus
sperm flagellum

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000295201
Coding exons: 6
Length: 5397
Individuals with no LoFs: 125606
Homozygous LoFs: 0
Heterozygous LoFs: 139
Defined: 125745
p: 0.000553

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.71	393	309	1.27	0.0000224	2774
Missense (PolyPhen)		115	96.534	1.1913		912
Synonymous	-3.32	180	132	1.37	0.00000953	857
Loss of Function	-0.335	21	19.4	1.08	0.00000104	188

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00032	0.00031	rare
Latino/Admixed American	0.00047	0.00046	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.0015	0.0014	notable
Finnish	0.00068	0.00065	rare
European (Non-Finnish)	0.00065	0.00061	rare
South Asian	0.000033	0.000033	rare
Other	0.0012	0.0011	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be a structural component of the sperm flagellum. Contributes to normal sperm motility. {ECO:0000250|UniProtKB:Q149S1}.;

Recessive Scores

pRec: 0.105

Intolerance Scores

LoFtool: 0.877
RVIS EVS: 1.27
RVIS percentile EVS: 93.63

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.877

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High