IFT22

protein-coding

intraflagellar transport 22, the group of RAB like GTPases|IFT-B1 complex

Gene summary

Predicted to enable GTPase activity. Predicted to be involved in intracellular protein transport. Part of intraciliary transport particle A. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

RABL5

MANE transcript

NM_022777.4

Inheritance

—

ClinVar variants

U:33B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.23

Max pathogenic AF

—

Genomic locus

chr7:101,310,914-101,321,823

External References & Databases

Ensembl (ENSG00000128581)

Transcript & Mutation Effects

hg38 • Region Span ~10.9 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 IFT22 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 35

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_022777.4. 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				1 clinvar		1
missense			32 clinvar	2 clinvar		34
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	33	3	0	36

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_022777.4	RefSeq	NP_073614.1	5	MANE Select
ENST00000315322.10	Ensembl	ENSP00000320359.4	5	MANE Select
NM_001130820.3	RefSeq	NP_001124292.1	4	Standard
NM_001130821.3	RefSeq	NP_001124293.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Intraflagellar transport
Cilium Assembly
Organelle biogenesis and maintenance

Biological Process

intracellular protein transport
Rab protein signal transduction
intraciliary transport involved in cilium assembly

Molecular Function

GTPase activity
GTP binding

Cellular Component

centrosome
cilium
intraciliary transport particle B
ciliary tip

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000315322
Coding exons: 5
Length: 8130
Individuals with no LoFs: 125740
Homozygous LoFs: 0
Heterozygous LoFs: 7
Defined: 125747
p: 0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.745	82	103	0.794	0.00000546	1236
Missense (PolyPhen)		24	31.762	0.75563		394
Synonymous	-0.402	43	39.8	1.08	0.00000230	327
Loss of Function	2.09	2	8.60	0.232	3.65e-7	107

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000054	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0.000098	0.000098	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Small GTPase-like component of the intraflagellar transport (IFT) complex B. {ECO:0000250}.;

Recessive Scores

pRec: 0.107

Intolerance Scores

RVIS EVS: -0.21
RVIS percentile EVS: 38.28

Essentials

Essential (gene trap): N