HOATZ

protein-coding

HOATZ cilia and flagella associated protein

Gene summary

Predicted to be involved in axoneme assembly; flagellated sperm motility; and spermatogenesis. Predicted to be located in cilium and cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C11orf88

MANE transcript

NM_001100388.2

Inheritance

—

ClinVar variants

U:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.62

Max pathogenic AF

—

Genomic locus

chr11:111,514,778-111,537,043

External References & Databases

Ensembl (ENSG00000183644)

Transcript & Mutation Effects

hg38 • Region Span ~22.3 kb

Loading mutation effect viewer...

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 HOATZ variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001100388.2. 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			2 clinvar			2
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	3	0	0	3

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 9 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001100388.2	RefSeq	NP_001093858.1	6	MANE Select
ENST00000375618.9	Ensembl	ENSP00000364768.4	6	MANE Select
NM_207430.2	RefSeq	NP_997313.2	7	Standard
ENST00000332814.6	Ensembl	ENSP00000333845.6	7	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000332814
Coding exons: 7
Length: 22247
Individuals with no LoFs: 124716
Homozygous LoFs: 0
Heterozygous LoFs: 94
Defined: 124810
p: 0.000377

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0917	102	99.4	1.03	0.00000482	1267
Missense (PolyPhen)		29	28.131	1.0309		366
Synonymous	-0.398	43	39.8	1.08	0.00000214	351
Loss of Function	1.20	7	11.4	0.616	4.86e-7	141

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00097	0.00097	rare
Latino/Admixed American	0.000029	0.000029	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.00011	0.00011	rare
South Asian	0.0021	0.0021	notable
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.261
RVIS EVS: 1.15
RVIS percentile EVS: 92.43

Essentials

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

Gene Damage Prediction

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