ENKUR

protein-coding

enkurin, TRPC channel interacting protein, the group of Cilia and flagella associated

Gene summary

This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

Previous symbols:

C10orf63

MANE transcript

NM_145010.4

Inheritance

—

ClinVar variants

U:46B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.67

Max pathogenic AF

—

Genomic locus

chr10:24,981,979-25,062,279

External References & Databases

Ensembl (ENSG00000151023)

Transcript & Mutation Effects

hg38 • Region Span ~80.3 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 ENKUR variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 47

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_145010.4. 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						0
missense			44 clinvar	5 clinvar		49
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	46	5	0	51

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 11 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_145010.4	RefSeq	NP_659447.1	6	MANE Select
ENST00000331161.9	Ensembl	ENSP00000331044.4	6	MANE Select
NM_001270383.2	RefSeq	NP_001257312.1	5	Standard
ENST00000376363.5	Ensembl	ENSP00000365541.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

calmodulin binding
SH3 domain binding

Cellular Component

acrosomal vesicle
sperm principal piece

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000331161
Coding exons: 6
Length: 34182
Individuals with no LoFs: 125668
Homozygous LoFs: 0
Heterozygous LoFs: 61
Defined: 125729
p: 0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0221	140	139	1.01	0.00000693	1711
Missense (PolyPhen)		35	33.886	1.0329		441
Synonymous	-0.419	48	44.4	1.08	0.00000240	443
Loss of Function	1.08	8	12.0	0.665	5.89e-7	165

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00025	0.00025	rare
Latino/Admixed American	0.000061	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.0015	0.0015	notable
European (Non-Finnish)	0.00012	0.00012	rare
South Asian	0.00017	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Adapter that functions to localize a calcium-sensitive signal transduction machinery in sperm to a calcium-permeable ion channel. {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.406
RVIS EVS: 0.77
RVIS percentile EVS: 87.01

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0306

Gene Damage Prediction

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