RIBC2

protein-coding

RIB43A domain with coiled-coils 2

Gene summary

Predicted to be involved in flagellated sperm motility. Located in axonemal microtubule. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C22orf11

MANE transcript

NM_015653.5

Inheritance

—

ClinVar variants

U:21B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1

Max pathogenic AF

—

Genomic locus

chr22:45,413,693-45,432,509

External References & Databases

Ensembl (ENSG00000128408)

Transcript & Mutation Effects

hg38 • Region Span ~18.8 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 RIBC2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 22

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015653.5. 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			21 clinvar	1 clinvar		22
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	21	2	0	23

Loading ClinVar variants...

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_015653.5	RefSeq	NP_056468.3	7	MANE Select
ENST00000614167.2	Ensembl	ENSP00000483356.1	7	MANE Select
ENST00001132719.1	Ensembl	ENSP00000814772.1	7	Standard
XM_005261524.5	RefSeq	XP_005261581.1	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000538017
Coding exons: 7
Length: 18805
Individuals with no LoFs: 125638
Homozygous LoFs: 0
Heterozygous LoFs: 110
Defined: 125748
p: 0.000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.373	199	214	0.928	0.0000126	2493
Missense (PolyPhen)		57	64.768	0.88006		721
Synonymous	0.626	73	80.1	0.911	0.00000449	666
Loss of Function	0.0165	18	18.1	0.996	8.40e-7	205

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0011	0.00062	notable
Latino/Admixed American	0.00015	0.00014	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0014	0.0014	notable
Finnish	0.00025	0.00023	rare
European (Non-Finnish)	0.00047	0.00042	rare
South Asian	0.00053	0.00049	rare
Other	0.00034	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.105

Essentials

Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.0897

Gene Damage Prediction

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