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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
IFT27
intraflagellar transport 27
Chromosome 22 Β· 22q12.3
NCBI Gene: 11020Ensembl: ENSG00000100360.16HGNC: HGNC:18626UniProt: Q9BW83
42PubMed Papers
21Diseases
0Drugs
14Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
intraciliary transport particle Bintraciliary retrograde transportintraciliary transportintraciliary transport particle ABardet-Biedl syndromeJeune syndromeciliopathypolydactyly
✦AI Summary

IFT27 (intraflagellar transport 27) is a small GTPase-like component of the intraflagellar transport (IFT) complex B that functions primarily in ciliary protein trafficking and hedgehog signaling 1. IFT27 forms a functional dimer with IFT25 within the IFT-B complex, constituting the interface with the BBSome cargo adaptor complex 2. Mechanistically, IFT27 promotes BBSome exit from cilia through its interaction with ARL6 and prevents aggregation of GTP-free ARL6, while not participating in BBSome entry [UniProt reference]. The IFT25-IFT27 dimer binds the IFT74-IFT81 dimer of IFT-B in a manner mutually exclusive with RABL2 GTPase, regulating ciliary GPCR export including GPR161 and Smoothened 23. IFT27 is essential for male fertility, spermiogenesis, and sperm flagella formation, with particular importance in ciliated tissues [UniProt reference]. Disease relevance includes Bardet-Biedl syndrome (BBS19), where IFT27 mutations impair cooperation with IFT74-IFT81, causing ciliary defects 3. IFT27 mutations also cause retinitis pigmentosa through impaired photoreceptor outer segment maintenance via hedgehog pathway disruption 4, and complete loss causes fetal lethal ciliopathy with altered ciliogenesis 5.

Sources cited
1
IFT25-IFT27 dimer constitutes interface with BBSome; binds IFT74/IFT81 in mutually exclusive manner with RABL2 GTPase; required for BBSome-mediated ciliary GPCR export
PMID: 36074075
2
IFT25-IFT27 dimer binds C-terminal region of IFT74-IFT81; impaired interaction causes BBS-associated ciliary defects; BBS variants of IFT27 impaired in IFT74-IFT81 binding
PMID: 34888642
3
IFT27 is dispensable for cilia formation but affects hedgehog signaling; IFT extensively involved in hedgehog pathway dynamics
PMID: 29540531
4
IFT27 regulates long-term maintenance of photoreceptor outer segments; IFT27 mutations cause retinitis pigmentosa through hedgehog signaling pathway disruption
PMID: 38310983
5
Complete loss of IFT27 function causes fetal lethal ciliopathy with short ribs, polydactyly, hypodysplastic kidneys, and altered ciliogenesis
PMID: 39955445
6
IFT25 and IFT27 form specific module necessary for proper intraflagellar transport and flagellum construction
PMID: 30709917
7
IFT27 absence impairs ciliary GPCR export including GPR161; BBSome and IFT27 mediate GPCR export together with intraflagellar transport machinery
PMID: 40384633
Disease Associationsβ“˜21
Bardet-Biedl syndromeOpen Targets
0.70Strong
Jeune syndromeOpen Targets
0.42Moderate
ciliopathyOpen Targets
0.37Weak
polydactylyOpen Targets
0.37Weak
smoking initiationOpen Targets
0.31Weak
bilirubin metabolism diseaseOpen Targets
0.31Weak
Dental malocclusionOpen Targets
0.26Weak
genetic disorderOpen Targets
0.19Weak
Retinal dystrophyOpen Targets
0.14Weak
optic atrophyOpen Targets
0.11Weak
Robinow syndromeOpen Targets
0.05Suggestive
autosomal dominant Robinow syndromeOpen Targets
0.05Suggestive
Hypertelorism, Teebi typeOpen Targets
0.04Suggestive
paternal uniparental disomy of chromosome 14Open Targets
0.04Suggestive
Orofaciodigital syndrome type 2Open Targets
0.04Suggestive
3C syndromeOpen Targets
0.04Suggestive
Aneurysm - osteoarthritis syndromeOpen Targets
0.04Suggestive
aneurysm-osteoarthritis syndromeOpen Targets
0.04Suggestive
autosomal recessive Robinow syndromeOpen Targets
0.04Suggestive
cardioacrofacial dysplasia 2Open Targets
0.04Suggestive
Bardet-Biedl syndrome 19UniProt
Pathogenic Variants14
NM_001177701.3(IFT27):c.352+1G>TPathogenic
Bardet-Biedl syndrome|not provided|Bardet-Biedl syndrome 19|IFT27-related disorder|Hepatocellular carcinoma
β˜…β˜…β˜†β˜†2025
NM_001177701.3(IFT27):c.107A>G (p.Tyr36Cys)Pathogenic
Bardet-Biedl syndrome|Bardet-Biedl syndrome 19|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 36
NM_001177701.3(IFT27):c.34+2T>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001177701.3(IFT27):c.404C>G (p.Ser135Ter)Pathogenic
not provided|Jeune thoracic dystrophy
β˜…β˜†β˜†β˜†2024β†’ Residue 135
NM_001177701.3(IFT27):c.200G>T (p.Gly67Val)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 67
NM_001177701.3(IFT27):c.391C>T (p.Arg131Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 131
NM_001177701.3(IFT27):c.234+1G>ALikely pathogenic
not provided|Jeune thoracic dystrophy
β˜…β˜†β˜†β˜†2024
NM_001177701.3(IFT27):c.299G>A (p.Cys100Tyr)Pathogenic
Bardet-Biedl syndrome 19|IFT27-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 100
NM_001177701.3(IFT27):c.126_130del (p.Met42fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 42
NM_001177701.3(IFT27):c.118_125del (p.Thr40fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 40
NM_001177701.3(IFT27):c.171del (p.Ser57fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 57
NM_001177701.3(IFT27):c.97C>T (p.Gln33Ter)Pathogenic
not provided|Bardet-Biedl syndrome 19
β˜…β˜†β˜†β˜†2022β†’ Residue 33
NM_001177701.3(IFT27):c.202_208del (p.Lys68fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 68
NM_001177701.3(IFT27):c.197C>A (p.Ala66Asp)Likely pathogenic
Bardet-Biedl syndrome 19
β˜†β˜†β˜†β˜†2021β†’ Residue 66
View on ClinVar β†—
Related Genes
IFT140Protein interaction100%IFT46Protein interaction100%BBS5Protein interaction100%BBS7Protein interaction100%IFT38Protein interaction100%IFT54Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Heart
62%
Bone Marrow
62%
Liver
50%
Lung
46%
Brain
39%
Gene Interaction Network
Click a node to explore
IFT27IFT140IFT46BBS5BBS7IFT38IFT54
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BW83
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.08LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.46–1.08]
RankingsWhere IFT27 stands among ~20K protein-coding genes
  • #9,887of 20,598
    Most Researched42
  • #2,533of 5,498
    Most Pathogenic Variants14
  • #10,933of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedIFT27
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
PMID: 20301537
1.00
2
IFT25 is required for the construction of the trypanosome flagellum.
PMID: 30709917
J Cell Sci Β· 2019
0.90
3
CEP19-RABL2-IFT-B axis controls BBSome-mediated ciliary GPCR export.
PMID: 36074075
Mol Biol Cell Β· 2022
0.80
4
Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.
PMID: 34888642
Hum Mol Genet Β· 2022
0.70
5
Ξ²-Arrestin mediates the export of ciliary GPR161 but not Smoothened together with the BBSome and intraflagellar transport machinery.
PMID: 40384633
J Cell Sci Β· 2025
0.60