HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
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.
IFT81
intraflagellar transport 81
Chromosome 12 Β· 12q24.11
NCBI Gene: 28981Ensembl: ENSG00000122970.17HGNC: HGNC:14313UniProt: Q8WYA0
52PubMed Papers
21Diseases
0Drugs
50Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
intraciliary transport particle Acilium assemblytubulin bindingciliary basal bodyshort-rib thoracic dysplasia 19 with or without polydactylyshort rib dysplasiashort rib-polydactyly syndromeatrial fibrillation
✦AI Summary

IFT81 is a core component of the intraflagellar transport complex B (IFT-B) that plays essential roles in ciliogenesis and ciliary protein trafficking 1. Together with IFT74, IFT81 forms a tubulin-binding module that specifically mediates transport of tubulin within the cilium, with tubulin binding occurring through IFT81's calponin homology domain 1. The IFT74-IFT81 dimer functions as an unconventional GTPase-activating protein for RabL2, promoting its GTP hydrolysis during intraflagellar transport initiation 2. IFT81 also interacts with the IFT25-IFT27 dimer, and this interaction is crucial for proper BBSome-mediated export of ciliary membrane proteins including GPCRs 34. Mutations in IFT81 cause multiple ciliopathies with varying phenotypic presentations. Compound heterozygous mutations lead to short-rib thoracic dysplasia with polydactyly (SRTD19), often accompanied by features like situs inversus, micropenis, and rectal atresia 5. IFT81 variants can also cause nonsyndromic retinal degeneration through impaired photoreceptor cilium maintenance 6. Additionally, certain IFT81 variants that disrupt its interaction with IFT25-IFT27 can cause Bardet-Biedl syndrome-like ciliary defects, including accumulation of proteins within cilia and impaired GPCR export 7.

Sources cited
1
IFT81 forms tubulin-binding module with IFT74 and binds tubulin via calponin homology domain, required for ciliogenesis
PMID: 23990561
2
IFT74-IFT81 complex acts as RabL2 GTPase-activating protein during intraflagellar transport
PMID: 37606072
3
IFT81 interacts with IFT25-IFT27 dimer and impaired interaction causes Bardet-Biedl syndrome
PMID: 34888642
4
IFT81 participates in BBSome-mediated ciliary GPCR export through interaction with IFT25-IFT27
PMID: 36074075
5
IFT81 mutations cause short-rib thoracic dysplasia with additional features like situs inversus and micropenis
PMID: 32783357
6
IFT81 mutations can cause nonsyndromic retinal degeneration through photoreceptor cilium defects
PMID: 28460050
7
Certain IFT81 variants cause BBS-like ciliary defects when disrupting IFT25-IFT27 interaction
PMID: 37427975
Disease Associationsβ“˜21
short-rib thoracic dysplasia 19 with or without polydactylyOpen Targets
0.69Moderate
short rib dysplasiaOpen Targets
0.55Moderate
short rib-polydactyly syndromeOpen Targets
0.53Moderate
atrial fibrillationOpen Targets
0.46Moderate
Retinal dystrophyOpen Targets
0.45Moderate
Short statureOpen Targets
0.32Weak
goutOpen Targets
0.30Weak
retinitis pigmentosaOpen Targets
0.27Weak
myocardial infarctionOpen Targets
0.27Weak
Cone rod dystrophyOpen Targets
0.27Weak
cone-rod dystrophyOpen Targets
0.27Weak
Jeune syndromeOpen Targets
0.26Weak
poisoningOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
intelligenceOpen Targets
0.18Weak
ciliopathyOpen Targets
0.14Weak
polyp of colonOpen Targets
0.12Weak
HeadacheOpen Targets
0.08Suggestive
major depressive disorderOpen Targets
0.08Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.05Suggestive
Short-rib thoracic dysplasia 19 with or without polydactylyUniProt
Pathogenic Variants50
NM_014055.4(IFT81):c.1534C>T (p.Arg512Ter)Pathogenic
SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY|Short-rib thoracic dysplasia 19 with or without polydactyly|Jeune thoracic dystrophy|not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2025β†’ Residue 512
NM_014055.4(IFT81):c.87G>C (p.Leu29Phe)Pathogenic
SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY|Short-rib thoracic dysplasia 19 with or without polydactyly|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 29
NM_014055.4(IFT81):c.190C>T (p.Arg64Ter)Pathogenic
Short-rib thoracic dysplasia 19 with or without polydactyly|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 64
NM_014055.4(IFT81):c.1717-2A>GPathogenic
Short-rib thoracic dysplasia 19 with or without polydactyly
β˜…β˜…β˜†β˜†2024
NM_014055.4(IFT81):c.249-1G>APathogenic
not provided|Ovarian serous cystadenocarcinoma
β˜…β˜†β˜†β˜†2025
NM_014055.4(IFT81):c.899_900insT (p.Glu301fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 301
NM_014055.4(IFT81):c.1205dup (p.Asn402fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 402
NM_014055.4(IFT81):c.460_461del (p.Leu154fs)Likely pathogenic
Short-rib thoracic dysplasia 19 with or without polydactyly
β˜…β˜†β˜†β˜†2025β†’ Residue 154
NM_014055.4(IFT81):c.365T>A (p.Leu122Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 122
NM_014055.4(IFT81):c.1730_1737dup (p.Arg580fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 580
NM_014055.4(IFT81):c.1557+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_014055.4(IFT81):c.347del (p.Ala116fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 116
NM_014055.4(IFT81):c.144+2T>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_014055.4(IFT81):c.1024_1025del (p.Ser342fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 342
NM_014055.4(IFT81):c.1441C>T (p.Arg481Ter)Pathogenic
not provided|Short-rib thoracic dysplasia 19 with or without polydactyly
β˜…β˜†β˜†β˜†2025β†’ Residue 481
NM_014055.4(IFT81):c.863del (p.Lys288fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 288
NM_014055.4(IFT81):c.655_656del (p.Glu219fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 219
NM_014055.4(IFT81):c.630del (p.Arg210fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 210
NM_014055.4(IFT81):c.653_656del (p.Arg218fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 218
NM_014055.4(IFT81):c.1188+2T>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
IFT22Protein interaction100%IFT88Protein interaction100%IFT140Protein interaction100%IFT38Protein interaction100%IFT54Protein interaction100%IFT70AProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Brain
61%
Heart
57%
Lung
37%
Liver
27%
Bone Marrow
22%
Gene Interaction Network
Click a node to explore
IFT81IFT22IFT88IFT140IFT38IFT54IFT70A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8WYA0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.05LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.55–1.05]
RankingsWhere IFT81 stands among ~20K protein-coding genes
  • #8,567of 20,598
    Most Researched52
  • #1,340of 5,498
    Most Pathogenic Variants50 Β· top quartile
  • #10,567of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedIFT81
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.
PMID: 34888642
Hum Mol Genet Β· 2022
1.00
2
IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration.
PMID: 28460050
Invest Ophthalmol Vis Sci Β· 2017
0.90
3
The IFT81-IFT74 complex acts as an unconventional RabL2 GTPase-activating protein during intraflagellar transport.
PMID: 37606072
EMBO J Β· 2023
0.80
4
Compound heterozygous IFT81 variations in a skeletal ciliopathy patient cause Bardet-Biedl syndrome-like ciliary defects.
PMID: 37427975
Hum Mol Genet Β· 2023
0.70
5
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
PMID: 30080953
Hum Mutat Β· 2018
0.60