U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

IFT172 intraflagellar transport 172 [ Homo sapiens (human) ]

Gene ID: 26160, updated on 5-Aug-2026
Official Symbol
IFT172provided by HGNC
Official Full Name
intraflagellar transport 172provided by HGNC
Primary source
HGNC:HGNC:30391
See related
Ensembl:ENSG00000138002 MIM:607386; AllianceGenome:HGNC:30391
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SLB; wim; RP71; BBS20; osm-1; NPHP17; SRTD10
Summary
This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
Expression
Broad expression in testis (RPKM 10.6), ovary (RPKM 4.6) and 25 other tissues See more
Orthologs
all
Try the new Gene page
Try the new Transcripts and proteins table
See IFT172 in Genome Data Viewer
Location:
2p23.3
Exon count:
53
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27444377..27489743, complement)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27486730..27532099, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27667244..27712610, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent 1G Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:27618171-27618672 Neighboring gene ferritin heavy chain 1 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11299 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11300 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11302 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15507 Neighboring gene nuclear receptor binding protein 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:27665383-27665925 Neighboring gene keratinocyte associated protein 3 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:27676057-27677256 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27681686-27682885 Neighboring gene RNA, U6 small nuclear 986, pseudogene Neighboring gene fibronectin type III domain containing 4 Neighboring gene glucokinase regulator

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. A case of functional growth hormone deficiency and early growth retardation in a child with IFT172 mutations. Lucas-Herald AK, et al. J Clin Endocrinol Metab, 2015 Apr. PMID 25664603
  2. Short rib thoracic dysplasia without polydactyly due to novel variant in IFT172 gene. Mhatre S, et al. J Postgrad Med, 2020 Oct-Dec. PMID 33037165, Free PMC Article
  3. Primary cilia promote the differentiation of human neurons through the WNT signaling pathway. Coschiera A, et al. BMC Biol, 2024 Feb 27. PMID 38413974, Free PMC Article
  4. Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. Schaefer E, et al. J Hum Genet, 2016 May. PMID 26763875
  5. Clinical features and genetic analysis of a case series of skeletal ciliopathies in a prenatal setting. Peng Y, et al. BMC Med Genomics, 2023 Dec 7. PMID 38062428, Free PMC Article

See all (60) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
    Title: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
  2. Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.
    Title: Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.
  3. Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome.
    Title: Multimodal imaging of retinitis pigmentosa associated with Mainzer-Saldino syndrome.
  4. We found that depletion of IFT172 in rod photoreceptors leads to a rapid degeneration of the retina, with severely reduced electroretinography (ERG) responses by 1 month and complete outer-nuclear layer (ONL) degeneration by 2 months
    Title: Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects.
  5. This is the second report of IFT172 mutations in BBS patients validating IFT172 as the twentieth BBS gene (BBS20).
    Title: Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.
  6. Findings identified mutations in IFT172 that lead to a recessive form of non-syndromic retinitis pigmentosa and Bardet-Biedl syndrome and suggest that the primary IFT172 mutations alone are not sufficient to explain the wide range of phenotypes.
    Title: Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
  7. We have identified defects in IFT172 as a cause of complex asphyxiating thoracic dystrophy and Mainzer-Saldino syndrome.
    Title: Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
  8. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Bardet-Biedl syndrome 20
MedGen: C4310707 OMIM: 619471 GeneReviews: Not available
Compare labs
Nephronophthisis
MedGen: C0687120 GeneReviews: Not available
Compare labs
Retinitis pigmentosa 71
MedGen: C4225342 OMIM: 616394 GeneReviews: Not available
Compare labs
Short-rib thoracic dysplasia 10 with or without polydactyly
MedGen: C3810175 OMIM: 615630 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
EBI GWAS Catalog
Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
EBI GWAS Catalog
New loci associated with kidney function and chronic kidney disease.
EBI GWAS Catalog

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • KIAA1179, DKFZp434A163

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cilium assembly IEA
Inferred from Electronic Annotation
more info
  
involved_in cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in cilium assembly NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cilium organization IEA
Inferred from Electronic Annotation
more info
  
involved_in intraciliary anterograde transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in intraciliary transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in smoothened signaling pathway IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in axoneme IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in ciliary basal body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary tip TAS
Traceable Author Statement
more info
  
located_in cilium IEA
Inferred from Electronic Annotation
more info
  
located_in cilium ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cilium NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cilium TAS
Traceable Author Statement
more info
  
located_in extracellular vesicle HDA PubMed 
part_of intraciliary transport particle IEA
Inferred from Electronic Annotation
more info
  
part_of intraciliary transport particle A IDA
Inferred from Direct Assay
more info
 PubMed 
part_of intraciliary transport particle B IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of intraciliary transport particle B IEA
Inferred from Electronic Annotation
more info
  
part_of intraciliary transport particle B IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of intraciliary transport particle B ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in sperm cytoplasmic droplet IEA
Inferred from Electronic Annotation
more info
  
located_in sperm midpiece IEA
Inferred from Electronic Annotation
more info
  
located_in sperm principal piece IEA
Inferred from Electronic Annotation
more info
  
Preferred Names
intraflagellar transport protein 172 homolog
Names
intraflagellar transport 172 homolog
selective LIM binding factor homolog
wimple homolog

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034068.1 RefSeqGene

    Range
    5069..50435
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001410739.1 → NP_001397668.1  intraflagellar transport protein 172 homolog isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC074117
    Consensus CDS
    CCDS92725.1
    UniProtKB/TrEMBL
    A0A6Q8PGJ2, A0ACI8UFY3
    Related
    ENSP00000502283.1, ENST00000675690.2

  2. NM_015662.3 → NP_056477.1  intraflagellar transport protein 172 homolog isoform 1

    See identical proteins and their annotated locations for NP_056477.1

    Status: REVIEWED

    Source sequence(s)
    BC047294, BC137126, DC394416
    Consensus CDS
    CCDS1755.1
    UniProtKB/Swiss-Prot
    A5PKZ0, B2RNU5, Q86X44, Q96HW4, Q9UFJ9, Q9UG01, Q9ULP1
    UniProtKB/TrEMBL
    A0ACI8Q0A1
    Related
    ENSP00000260570.3, ENST00000260570.8
    Conserved Domains (5) summary
    COG2319
    Location:17 → 388
    WD40; WD40 repeat [General function prediction only]
    cd15832
    Location:811 → 866
    SNAP; TPR repeat [structural motif]
    sd00039
    Location:20 → 64
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:17 → 318
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl24038
    Location:808 → 994
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    27444377..27489743 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047443900.1 → XP_047299856.1  intraflagellar transport protein 172 homolog isoform X3

    UniProtKB/TrEMBL
    A0ACI8UFY3

  2. XM_006711987.2 → XP_006712050.1  intraflagellar transport protein 172 homolog isoform X2

    UniProtKB/TrEMBL
    A0ACI8T6P9, A0ACI8UFZ0
    Related
    ENSP00000593315.1, ENST00000923256.2
    Conserved Domains (5) summary
    COG2319
    Location:17 → 388
    WD40; WD40 repeat [General function prediction only]
    cd15832
    Location:811 → 866
    SNAP; TPR repeat [structural motif]
    sd00039
    Location:20 → 64
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:17 → 318
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl24038
    Location:808 → 994
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

  3. XM_006711986.4 → XP_006712049.1  intraflagellar transport protein 172 homolog isoform X1

    UniProtKB/TrEMBL
    A0ACI8UFZ0
    Related
    ENST00000507184.5
    Conserved Domains (5) summary
    COG2319
    Location:1 → 284
    WD40; WD40 repeat [General function prediction only]
    cd15832
    Location:790 → 845
    SNAP; TPR repeat [structural motif]
    sd00039
    Location:2 → 43
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:1 → 297
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl24038
    Location:787 → 973
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

  4. XM_047443902.1 → XP_047299858.1  intraflagellar transport protein 172 homolog isoform X4

    UniProtKB/TrEMBL
    A0ACI8UFZ0

  5. XM_047443901.1 → XP_047299857.1  intraflagellar transport protein 172 homolog isoform X4

    UniProtKB/TrEMBL
    A0ACI8UFZ0

  6. XM_047443904.1 → XP_047299860.1  intraflagellar transport protein 172 homolog isoform X8

  7. XM_011532759.3 → XP_011531061.1  intraflagellar transport protein 172 homolog isoform X7

    Conserved Domains (2) summary
    cd15832
    Location:291 → 346
    SNAP; TPR repeat [structural motif]
    cl24038
    Location:288 → 474
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

  8. XM_011532760.3 → XP_011531062.1  intraflagellar transport protein 172 homolog isoform X9

    Conserved Domains (2) summary
    cd15832
    Location:166 → 221
    SNAP; TPR repeat [structural motif]
    cl24038
    Location:163 → 349
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

  9. XM_047443903.1 → XP_047299859.1  intraflagellar transport protein 172 homolog isoform X6

  10. XM_011532758.2 → XP_011531060.1  intraflagellar transport protein 172 homolog isoform X5

    Conserved Domains (5) summary
    COG2319
    Location:17 → 388
    WD40; WD40 repeat [General function prediction only]
    cd15832
    Location:811 → 866
    SNAP; TPR repeat [structural motif]
    sd00039
    Location:20 → 64
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:17 → 318
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    cl24038
    Location:808 → 994
    SNAP; Soluble N-ethylmaleimide-sensitive factor (NSF) Attachment Protein family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    27486730..27532099 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341345.1 → XP_054197320.1  intraflagellar transport protein 172 homolog isoform X3

    UniProtKB/TrEMBL
    A0ACI8UFY3

  2. XM_054341344.1 → XP_054197319.1  intraflagellar transport protein 172 homolog isoform X2

    UniProtKB/TrEMBL
    A0ACI8T6P9, A0ACI8UFZ0

  3. XM_054341343.1 → XP_054197318.1  intraflagellar transport protein 172 homolog isoform X1

    UniProtKB/TrEMBL
    A0ACI8UFZ0

  4. XM_054341347.1 → XP_054197322.1  intraflagellar transport protein 172 homolog isoform X4

    UniProtKB/TrEMBL
    A0ACI8UFZ0

  5. XM_054341346.1 → XP_054197321.1  intraflagellar transport protein 172 homolog isoform X4

    UniProtKB/TrEMBL
    A0ACI8UFZ0

  6. XM_054341351.1 → XP_054197326.1  intraflagellar transport protein 172 homolog isoform X8

  7. XM_054341350.1 → XP_054197325.1  intraflagellar transport protein 172 homolog isoform X7

  8. XM_054341352.1 → XP_054197327.1  intraflagellar transport protein 172 homolog isoform X9

  9. XM_054341349.1 → XP_054197324.1  intraflagellar transport protein 172 homolog isoform X6

  10. XM_054341348.1 → XP_054197323.1  intraflagellar transport protein 172 homolog isoform X5

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UG01.2 GenPept UniProtKB/Swiss-Prot:Q9UG01

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous