IFT70B

protein-coding

intraflagellar transport 70B, the group of IFT-B1 complex|Tetratricopeptide repeat domain containing

Gene summary

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

Previous symbols:

TTC30B

MANE transcript

NM_152517.3

Inheritance

—

ClinVar variants

U:86B:23

Top phenotype

IFT70B-related disorder

gnomAD constraint

pLI —, LoF o/e 0.72

Max pathogenic AF

—

Genomic locus

chr2:177,548,998-177,552,796

External References & Databases

Ensembl (ENSG00000196659)

Transcript & Mutation Effects

hg38 • Region Span ~3.8 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 IFT70B variants in ClinVar

4 Conditions Cataloged

not specifiedTotal: 95

not providedTotal: 13

IFT70B-related disorderTotal: 5

SynpolydactylyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152517.3. 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				11 clinvar		11
missense			86 clinvar	12 clinvar		98
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	86	23	0	109

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152517.3	RefSeq	NP_689730.2	1	MANE Select
ENST00000408939.4	Ensembl	ENSP00000386181.2	1	MANE Select

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

intraciliary transport involved in cilium assembly
intraciliary transport

Molecular Function

protein binding

Cellular Component

cilium
intraciliary transport particle B
ciliary tip

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000408939
Coding exons: 1
Length: 4017
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.571	371	341	1.09	0.0000168	4325
Missense (PolyPhen)		97	97.268	0.99724		1291
Synonymous	-2.10	168	137	1.23	0.00000673	1284
Loss of Function	1.14	14	19.4	0.722	9.95e-7	268

Population LoF Frequency

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

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Required for polyglutamylation of axonemal tubulin. Plays a role in anterograde intraflagellar transport (IFT), the process by which cilia precursors are transported from the base of the cilium to the site of their incorporation at the tip. {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.544
RVIS EVS: 0.73
RVIS percentile EVS: 86.21

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.00474

Gene Damage Prediction

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