Gene
IFT172
intraflagellar transport 172
- HGNC 30391(opens in a new tab)
- Ensembl gene ENSG00000138002(opens in a new tab)
- NCBI Gene 26160(opens in a new tab)
Summary
- Cytogenetic location
- 2p23.3
- Coordinates
- Chromosome 2: 27,444,377–27,489,743 (GRCh38)
- Exons
- 48 exons across 45.4 kb
- Protein
- 1,749 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- SLB, wim, osm-1, NPHP17, BBS20
- MANE Select transcript
- ENST00000260570.8NM_015662.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Bardet-Biedl and Alström Syndromes
- Bardet-Biedl syndromeAutosomal recessive
A recessive ciliopathy caused by variants in more than 20 genes (most often BBS1 and BBS10) that causes retinal dystrophy, obesity, extra fingers or toes, kidney anomalies and learning difficulties.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Diagnosis allows eye, kidney and diabetes surveillance, and setmelanotide is an approved treatment for obesity in Bardet-Biedl syndrome.
Broader groupings
Retinitis Pigmentosa
One of 77 genes linked to it
A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.
- 1 GenCC submitter rates it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How IFT172 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.4 kb of the gene's 45.4 kb; 5,250 of those bases code for the protein.
How a genome test reads IFT172
135
positions in IFT172 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 45.4 kb of IFT172, introns included, not only the 5.4 kb of exons.
Traits linked to IFT172
The Human Phenotype Ontology lists these as features of the rare conditions IFT172 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Astigmatism
- Breakdown of light-sensitive cells in back of eye
- Difficulties with night vision
- Farsightedness
- Limited peripheral vision
- Optic disc drusen
- Optic disc pallor
- Papilledema
Show 31 more traits
- Perifoveal ring of hyperautofluorescence
- Abnormal electroretinogram
- Abnormal retinal pigmentation
- Blindness
- Cone/cone-rod dystrophy
- Extreme sensitivity of the eyes to light
- Involuntary, rapid, rhythmic eye movements
- Optic atrophy
- Progressive night blindness
- Retina degeneration
- Spicular pigmentation of the retina
- Visual impairment
- Abnormal central response of multifocal electroretinogram
- Abnormal color vision
- Abnormal full-field electroretinogram
- Bulging cornea
- Cystoid macular edema
- Day blindness
- Decreased clarity of vision
- Eye muscle paralysis
- Glaucoma
- Loss of peripheral vision
- Photoreceptor outer segment loss on macular OCT
- Posterior subcapsular cataract
- Retinal atrophy
- Rod-cone dystrophy
- Clouding of the lens of the eye
- Cross-eyed
- Oculomotor apraxia
- Photopsia
- Wide-set eyes
Abnormality of the digestive system
- Pancreatic inflammation
- Abnormality of the gastrointestinal tract
- Abnormality of the liver
- Feeding difficulties in infancy
- Hepatic fibrosis
- Celiac disease
- Enlarged colon lacking nerve cells
- Inflammation of the large intestine
Show 3 more traits
Abnormality of the cardiovascular system
- An opening in the wall separating the top two chambers of the heart
- Narrowing of blood vessels in back of eye
- Retinal vascular tortuosity
- Abnormality of retina blood vessels
- High blood pressure
- Abnormality of the heart
- Hole in heart wall separating two lower heart chambers
- Disease of the heart muscle
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). IFT172 gene: intraflagellar transport 172. Retrieved 17 October 2026, from https://dantelabs.com/genes/ift172
Dante Labs. IFT172 gene: intraflagellar transport 172 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ift172
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