TEKTIP1

protein-coding

tektin bundle interacting protein 1

Gene summary

Predicted to be involved in flagellated sperm motility. Predicted to be located in axonemal microtubule. Predicted to be active in axonemal A tubule inner sheath and sperm flagellum. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C19orf71

MANE transcript

NM_001135580.2

Inheritance

—

ClinVar variants

U:12B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.26

Max pathogenic AF

—

Genomic locus

chr19:3,539,171-3,544,030

External References & Databases

Ensembl (ENSG00000183397)

NCBI Gene (100128569)

Transcript & Mutation Effects

hg38 • Region Span ~4.9 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 TEKTIP1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 11

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001135580.2. 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				1 clinvar		1
missense			12 clinvar		1 clinvar	13
nonsense				1 clinvar		1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	12	2	1	15

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001135580.2	RefSeq	NP_001129052.1	4	MANE Select
ENST00000329493.6	Ensembl	ENSP00000327950.4	4	MANE Select
ENST00000681976.1	Ensembl	ENSP00000507755.1	3	Standard
ENST00001138539.1	Ensembl	ENSP00000807120.1	4	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000329493
Coding exons: 4
Length: 4877
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-1.33	179	135	1.32	0.00000941	1298
Missense (PolyPhen)		47	34.566	1.3597		350
Synonymous	0.0931	57	57.9	0.984	0.00000406	427
Loss of Function	-0.722	11	8.70	1.26	3.75e-7	89

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

RVIS EVS: 0.93
RVIS percentile EVS: 89.66

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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