Gene
IFT74
intraflagellar transport 74
- HGNC 21424↗(opens in a new tab)
- Ensembl gene ENSG00000096872↗(opens in a new tab)
- NCBI Gene 80173↗(opens in a new tab)
Summary
- Cytogenetic location
- 9p21.2
- Coordinates
- Chromosome 9: 26,956,412–27,066,134 (GRCh38)
- Exons
- 20 exons across 109.7 kb
- Protein
- 600 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- CMG1, CMG-1, FLJ22621
- Previous symbols
- CCDC2
- MANE Select transcript
- ENST00000380062.10NM_025103.4
- 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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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.
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 IFT74 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 5.3 kb of the gene's 109.7 kb; 1,803 of those bases code for the protein.
How a genome test reads IFT74
8
positions in IFT74 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 109.7 kb of IFT74, introns included, not only the 5.3 kb of exons.
Genes linked to the same conditions
- ARL6ARF like GTPase 6Shares 1 condition
- BBIP1BBSome interacting protein 1Shares 1 condition
- BBS1Bardet-Biedl syndrome 1Shares 1 condition
- BBS10Bardet-Biedl syndrome 10Shares 1 condition
- BBS12Bardet-Biedl syndrome 12Shares 1 condition
- BBS2Bardet-Biedl syndrome 2Shares 1 condition
- BBS4Bardet-Biedl syndrome 4Shares 1 condition
- BBS5Bardet-Biedl syndrome 5Shares 1 condition
- BBS7Bardet-Biedl syndrome 7Shares 1 condition
- BBS9Bardet-Biedl syndrome 9Shares 1 condition
- CEP290centrosomal protein 290Shares 1 condition
- CFAP418cilia and flagella associated protein 418Shares 1 condition
Traits linked to IFT74
The Human Phenotype Ontology lists these as features of the rare conditions IFT74 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed speech and language development
- Global developmental delay
- Increased appetite
- Intellectual disability
- Molar tooth sign on MRI
- Motor delay
- Ataxia
- Cerebellar vermis hypoplasia
Show 18 more traits
- Neurodevelopmental delay
- Abnormal gait
- Autism
- Behavioral abnormality
- Cognitive impairment
- Depression
- Short attention span
- Specific learning disability
- Abnormal speech pattern
- Abnormality of neuronal migration
- Anxiety
- Aplasia/Hypoplasia of the corpus callosum
- Breathy speech
- Can't control feelings
- Epilepsy
- More grooves in brain
- Too much cerebrospinal fluid in the brain
- Tremor
Abnormality of head or neck
- Abnormally small head
- Almond shaped eyes
- Big calvaria
- Depressed nasal bridge
- Abnormality of the oral cavity
- Abnormality of the sense of smell
- Decreased width of the skull
- Dental crowding
Show 15 more traits
- Failure of development of between one and six teeth
- High palate
- Long face
- Cleft of the mouth
- Decreased size of tooth
- Downward slanting of the opening between the eyelids
- Encephalocele
- Highly arched eyebrow
- Long philtrum
- Medial flaring of the eyebrow
- Nasal inflammation
- Nasal tip, upturned
- Prominent nasal bridge
- Receding chin
- Short neck
Abnormality of the genitourinary system
- Irregularly shaped sperm tail
- Male infertility
- Short sperm flagella
- Abnormality of the genitourinary system
- Chronic kidney disease
- Immotile sperm
- Low sperm count
- Reduced progressive sperm motility
Show 15 more traits
- Underdeveloped ovary
- Underdeveloped penis
- Absent/small vagina
- Decreased testicular size
- Horseshoe kidney
- Hydrometrocolpos
- Hydronephrosis
- Infertility
- Lack of bladder control due to nervous system injury
- Menstrual irregularity
- Multiple kidney cysts
- Nephrotic syndrome
- Polycystic ovaries
- Undescended testes
- Vesicoureteral reflux
Abnormality of limbs
- Extra toe attached near the little toe
- More than five fingers or toes on hands or feet
- Postaxial polydactyly
- Short fingers or toes
- Club feet
- Duplication of bones of the toes
- Extra finger
- Finger syndactyly
Show 2 more traits
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.). IFT74 gene: intraflagellar transport 74. Retrieved 16 October 2026, from https://dantelabs.com/genes/ift74
Dante Labs. IFT74 gene: intraflagellar transport 74 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ift74
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