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Aliases for IFT172 Gene

Aliases for IFT172 Gene

  • Intraflagellar Transport 172 2 3 5
  • Wimple Homolog 2 3
  • Intraflagellar Transport 172 Homolog (Chlamydomonas) 2
  • Intraflagellar Transport 172 Homolog 3
  • Selective LIM Binding Factor Homolog 3
  • KIAA1179 4
  • NPHP17 3
  • SRTD10 3
  • BBS20 3
  • Osm-1 3
  • RP71 3
  • SLB 3
  • Wim 3

External Ids for IFT172 Gene

Previous GeneCards Identifiers for IFT172 Gene

  • GC02M027580
  • GC02M027520
  • GC02M027667
  • GC02M027409

Summaries for IFT172 Gene

Entrez Gene Summary for IFT172 Gene

  • 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]

GeneCards Summary for IFT172 Gene

IFT172 (Intraflagellar Transport 172) is a Protein Coding gene. Diseases associated with IFT172 include short-rib thoracic dysplasia 10 with or without polydactyly and retinitis pigmentosa 71. Among its related pathways are Signaling by GPCR and Organelle biogenesis and maintenance. GO annotations related to this gene include binding.

UniProtKB/Swiss-Prot for IFT172 Gene

  • Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IFT172 Gene

Genomics for IFT172 Gene

Regulatory Elements for IFT172 Gene

Promoters for IFT172 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IFT172 on UCSC Golden Path with GeneCards custom track

Genomic Location for IFT172 Gene

Chromosome:
2
Start:
27,444,371 bp from pter
End:
27,489,811 bp from pter
Size:
45,441 bases
Orientation:
Minus strand

Genomic View for IFT172 Gene

Genes around IFT172 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IFT172 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IFT172 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IFT172 Gene

Proteins for IFT172 Gene

  • Protein details for IFT172 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UG01-IF172_HUMAN
    Recommended name:
    Intraflagellar transport protein 172 homolog
    Protein Accession:
    Q9UG01
    Secondary Accessions:
    • A5PKZ0
    • B2RNU5
    • Q86X44
    • Q96HW4
    • Q9UFJ9
    • Q9ULP1

    Protein attributes for IFT172 Gene

    Size:
    1749 amino acids
    Molecular mass:
    197576 Da
    Quaternary structure:
    • Interacts with IFT88. Interacts with RABL2/RABL2A; binds preferentially to GDP-bound RABL2.

    Alternative splice isoforms for IFT172 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IFT172 Gene

Proteomics data for IFT172 Gene at MOPED

Post-translational modifications for IFT172 Gene

  • Ubiquitination at Lys 499
  • Modification sites at PhosphoSitePlus

Other Protein References for IFT172 Gene

No data available for DME Specific Peptides for IFT172 Gene

Domains & Families for IFT172 Gene

Suggested Antigen Peptide Sequences for IFT172 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UG01

UniProtKB/Swiss-Prot:

IF172_HUMAN :
  • Belongs to the IFT172 family.
  • Contains 14 TPR repeats.
Family:
  • Belongs to the IFT172 family.
Similarity:
  • Contains 14 TPR repeats.
  • Contains 9 WD repeats.
genes like me logo Genes that share domains with IFT172: view

Function for IFT172 Gene

Molecular function for IFT172 Gene

UniProtKB/Swiss-Prot Function:
Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity).
genes like me logo Genes that share phenotypes with IFT172: view

Human Phenotype Ontology for IFT172 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IFT172 Gene

MGI Knock Outs for IFT172:

Animal Model Products

miRNA for IFT172 Gene

miRTarBase miRNAs that target IFT172

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for IFT172 Gene

Localization for IFT172 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IFT172 Gene

Cell projection, cilium. Note=Localized to the axoneme and around the base of the cilium.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IFT172 Gene COMPARTMENTS Subcellular localization image for IFT172 gene
Compartment Confidence
extracellular 5
cytoskeleton 4
cytosol 2
nucleus 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for IFT172 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030992 intraciliary transport particle B ISS --
GO:0097598 sperm cytoplasmic droplet IEA --
GO:1903561 extracellular vesicle IDA 24769233
genes like me logo Genes that share ontologies with IFT172: view

Pathways & Interactions for IFT172 Gene

genes like me logo Genes that share pathways with IFT172: view

Interacting Proteins for IFT172 Gene

Gene Ontology (GO) - Biological Process for IFT172 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006996 organelle organization TAS --
GO:0007224 smoothened signaling pathway IEA --
GO:0007368 determination of left/right symmetry IEA --
GO:0007420 brain development IEA --
GO:0008544 epidermis development IEA --
genes like me logo Genes that share ontologies with IFT172: view

No data available for SIGNOR curated interactions for IFT172 Gene

Drugs & Compounds for IFT172 Gene

No Compound Related Data Available

Transcripts for IFT172 Gene

Unigene Clusters for IFT172 Gene

Intraflagellar transport 172 homolog (Chlamydomonas):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for IFT172 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a · 18b ^
SP1:
SP2:
SP3:
SP4: -
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38a · 38b ^ 39 ^ 40a · 40b · 40c · 40d ^
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 41 ^ 42 ^ 43a · 43b ^ 44
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: -
SP10:

Relevant External Links for IFT172 Gene

GeneLoc Exon Structure for
IFT172
ECgene alternative splicing isoforms for
IFT172

Expression for IFT172 Gene

mRNA expression in normal human tissues for IFT172 Gene

Protein differential expression in normal tissues from HIPED for IFT172 Gene

This gene is overexpressed in Testis (30.4), Tlymphocyte (17.1), and Ovary (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for IFT172 Gene



SOURCE GeneReport for Unigene cluster for IFT172 Gene Hs.127401

genes like me logo Genes that share expression patterns with IFT172: view

Protein tissue co-expression partners for IFT172 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for IFT172 Gene

Orthologs for IFT172 Gene

This gene was present in the common ancestor of animals.

Orthologs for IFT172 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IFT172 36
  • 99 (a)
OneToOne
IFT172 35
  • 99.49 (n)
  • 99.31 (a)
cow
(Bos Taurus)
Mammalia IFT172 35
  • 91.61 (n)
  • 95.43 (a)
IFT172 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IFT172 36
  • 95 (a)
OneToOne
IFT172 35
  • 91.92 (n)
  • 94.91 (a)
mouse
(Mus musculus)
Mammalia Ift172 16
Ift172 36
  • 96 (a)
OneToOne
Ift172 35
  • 89.4 (n)
  • 95.88 (a)
oppossum
(Monodelphis domestica)
Mammalia IFT172 36
  • 94 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IFT172 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ift172 35
  • 89.78 (n)
  • 95.77 (a)
chicken
(Gallus gallus)
Aves IFT172 35
  • 75.47 (n)
  • 81.36 (a)
IFT172 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IFT172 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490796 35
  • 70.42 (n)
  • 73.52 (a)
Str.19170 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2367 35
zebrafish
(Danio rerio)
Actinopterygii ift172 36
  • 75 (a)
OneToOne
Dr.19771 35
ift172 35
  • 71.29 (n)
  • 75.19 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005330 35
  • 53.02 (n)
  • 46.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta osm-1 36
  • 47 (a)
OneToOne
osm-1 35
  • 54.11 (n)
  • 48.09 (a)
worm
(Caenorhabditis elegans)
Secernentea osm-1 35
  • 51.49 (n)
  • 43.31 (a)
osm-1 36
  • 42 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 66 (a)
OneToOne
Species with no ortholog for IFT172:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for IFT172 Gene

ENSEMBL:
Gene Tree for IFT172 (if available)
TreeFam:
Gene Tree for IFT172 (if available)

Paralogs for IFT172 Gene

No data available for Paralogs for IFT172 Gene

Variants for IFT172 Gene

Sequence variations from dbSNP and Humsavar for IFT172 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs704793 - 27,458,798(+) CCCAA(C/T)GACCA reference, missense
VAR_070956 Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)
VAR_070957 Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)
VAR_070959 Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)
VAR_070960 Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)

Structural Variations from Database of Genomic Variants (DGV) for IFT172 Gene

Variant ID Type Subtype PubMed ID
nsv873754 CNV Loss 21882294
nsv833614 CNV Gain 17160897
nsv817684 CNV Gain 17921354

Variation tolerance for IFT172 Gene

Residual Variation Intolerance Score: 33.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.05; 60.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IFT172 Gene

HapMap Linkage Disequilibrium report
IFT172
Human Gene Mutation Database (HGMD)
IFT172

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IFT172 Gene

Disorders for IFT172 Gene

MalaCards: The human disease database

(13) MalaCards diseases for IFT172 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

IF172_HUMAN
  • Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]: A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a trident appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. {ECO:0000269 PubMed:24140113}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis pigmentosa 71 (RP71) [MIM:616394]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269 PubMed:25168386}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for IFT172

Genetic Association Database (GAD)
IFT172
Human Genome Epidemiology (HuGE) Navigator
IFT172
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IFT172
genes like me logo Genes that share disorders with IFT172: view

No data available for Genatlas for IFT172 Gene

Publications for IFT172 Gene

  1. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. (PMID: 24140113) Halbritter J. … Hildebrandt F. (Am. J. Hum. Genet. 2013) 2 3 4 67
  2. Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors. (PMID: 10788441) Howard P.W. … Maurer R.A. (J. Biol. Chem. 2000) 2 3
  3. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M. … Ohara O. (DNA Res. 1999) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. (PMID: 25168386) Bujakowska K.M. … Pierce E.A. (Hum. Mol. Genet. 2014) 3

Products for IFT172 Gene

Sources for IFT172 Gene

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