IQUB

protein-coding

IQ motif and ubiquitin domain containing

Gene summary

Involved in flagellated sperm motility and mating. Predicted to be located in sperm flagellum. Predicted to be part of radial spoke. Predicted to be active in acrosomal vesicle and motile cilium. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_178827.5

Inheritance

—

ClinVar variants

U:111B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.72

Max pathogenic AF

—

Genomic locus

chr7:123,452,193-123,535,077

External References & Databases

Ensembl (ENSG00000164675)

Transcript & Mutation Effects

hg38 • Region Span ~82.9 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 IQUB variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 113

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_178827.5. 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			110 clinvar	5 clinvar		115
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	111	5	1	117

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_178827.5	RefSeq	NP_849149.3	12	MANE Select
ENST00000324698.11	Ensembl	ENSP00000324882.6	12	MANE Select
NM_001282855.2	RefSeq	NP_001269784.1	12	Standard
NM_001321293.2	RefSeq	NP_001308222.1	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

smoothened signaling pathway
cilium assembly

Molecular Function

protein binding

Cellular Component

acrosomal vesicle
motile cilium

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000466202
Coding exons: 12
Length: 82678
Individuals with no LoFs: 125640
Homozygous LoFs: 0
Heterozygous LoFs: 103
Defined: 125743
p: 0.000410

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.102	403	397	1.01	0.0000190	5219
Missense (PolyPhen)		105	101.6	1.0334		1381
Synonymous	0.0802	135	136	0.991	0.00000647	1424
Loss of Function	1.59	27	37.5	0.720	0.00000169	486

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0024	0.0024	notable
Latino/Admixed American	0.00052	0.00049	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00015	0.00015	rare
South Asian	0.00074	0.00072	rare
Other	0.00050	0.00049	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play roles in cilia formation and/or maintenance. {ECO:0000250}.;

Recessive Scores

pRec: 0.0844

Intolerance Scores

LoFtool: 0.979
RVIS EVS: 0.01
RVIS percentile EVS: 54.1

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.481

Gene Damage Prediction

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