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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 Protein 172 Homolog 3
  • 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 Intraflagellar transport 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).

Additional gene information for IFT172 Gene

No data available for CIViC summary , 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

Enhancers for IFT172 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H027662 1.2 ENCODE 75.8 -173.8 -173835 2 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 ZC3H11A NFYC IFT172 ZNF512 SUPT7L CAD EIF2B4 GPN1 GTF3C2 ENSG00000272148 NRBP1 SNX17
GH02H027049 1.2 ENCODE 45.8 +438.7 438743 3 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A ZNF512 CAD EIF2B4 NRBP1 IFT172 SUPT7L GPN1 KHK LOC105374363 ATRAID
GH02H027719 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.8 -230.9 -230937 2 SIN3A GLI4 BRCA1 ZNF2 ZNF416 ATF7 FOS SP3 TSHZ1 ZNF623 SUPT7L CAD ZNF512 EIF2B4 GPN1 GTF3C2 ZNF513 AGBL5 GTF3C2-AS1 LOC105374363
GH02H028389 1.8 FANTOM5 ENCODE dbSUPER 12.7 -905.5 -905549 12 MLX DMAP1 YY1 SLC30A9 ZNF143 SP3 SSRP1 ZNF610 GLIS1 RCOR2 GPN1 SUPT7L NRBP1 FOSL2 ZNF512 PLB1 WDR43 PPP1CB IFT172 ENSG00000270210
GH02H027407 1.4 FANTOM5 ENCODE 12.9 +80.6 80629 2 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 SNX17 ZNF512 SUPT7L CAD IFT172 GPN1 KRTCAP3 C2orf16 PPM1G FTH1P3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around IFT172 on UCSC Golden Path with GeneCards custom track

Promoters for IFT172 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000114427 11 1200 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS

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

Post-translational modifications for IFT172 Gene

  • Ubiquitination at isoforms=2, 3499
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IFT172 Gene

Domains & Families for IFT172 Gene

Gene 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.
Family:
  • Belongs to the IFT172 family.
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).

Phenotypes From GWAS Catalog for IFT172 Gene

Gene Ontology (GO) - Molecular Function for IFT172 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27173435
genes like me logo Genes that share ontologies with IFT172: view
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

CRISPR Products

miRNA for IFT172 Gene

miRTarBase miRNAs that target IFT172

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for IFT172
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IFT172 gene
Compartment Confidence
extracellular 5
cytoskeleton 4
plasma membrane 2
nucleus 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IFT172 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium TAS --
GO:0005930 axoneme IBA --
GO:0030992 intraciliary transport particle B IBA,ISS --
GO:0036064 ciliary basal body IBA --
GO:0042995 cell projection IEA --
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

Pathways by source for IFT172 Gene

Gene Ontology (GO) - Biological Process for IFT172 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001843 neural tube closure IEA --
GO:0001947 heart looping IEA --
GO:0007219 Notch signaling pathway IEA --
GO:0007224 smoothened signaling pathway IEA --
GO:0007275 multicellular organism 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for IFT172
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for IFT172 Gene



Protein tissue co-expression partners for IFT172 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of IFT172 Gene:

IFT172

SOURCE GeneReport for Unigene cluster for IFT172 Gene:

Hs.127401

Evidence on tissue expression from TISSUES for IFT172 Gene

  • Nervous system(4.4)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IFT172 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • nose
  • olfactory bulb
  • outer ear
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with IFT172: view

Primer 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 33 34
  • 99.49 (n)
oppossum
(Monodelphis domestica)
Mammalia IFT172 34
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IFT172 33 34
  • 91.92 (n)
cow
(Bos Taurus)
Mammalia IFT172 33 34
  • 91.61 (n)
rat
(Rattus norvegicus)
Mammalia Ift172 33
  • 89.78 (n)
mouse
(Mus musculus)
Mammalia Ift172 33 16 34
  • 89.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia IFT172 34
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves IFT172 33 34
  • 75.47 (n)
lizard
(Anolis carolinensis)
Reptilia IFT172 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490796 33
  • 70.42 (n)
Str.19170 33
zebrafish
(Danio rerio)
Actinopterygii ift172 33 34
  • 71.29 (n)
Dr.19771 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2367 33
fruit fly
(Drosophila melanogaster)
Insecta osm-1 33 34
  • 54.11 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005330 33
  • 53.02 (n)
worm
(Caenorhabditis elegans)
Secernentea osm-1 34 33
  • 51.49 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 66 (a)
OneToOne
Species where no ortholog for IFT172 was found in the sources mined by GeneCards:
  • 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
rs145541911 Pathogenic, Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] 27,480,049(+) ATCCC(A/G)CTTCC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs149614625 Pathogenic, Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] 27,444,503(+) CTGGC(A/G)CACTG intron-variant, reference, missense
rs587777079 Pathogenic, Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] 27,447,544(+) AGAGC(A/G)CGTGG reference, missense
rs587777080 Pathogenic, Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] 27,447,567(+) CGATC(A/G)GCAGC reference, missense
rs587777085 Pathogenic, Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630] 27,477,310(+) TGAAG(A/T)TCATG nc-transcript-variant, reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
esv3430054 CNV duplication 20981092
esv3583678 CNV loss 25503493
nsv581244 CNV loss 21841781
nsv817684 CNV gain 17921354
nsv833614 CNV gain 17160897
nsv961022 CNV duplication 23825009

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

Human Gene Mutation Database (HGMD)
IFT172
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IFT172

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

Disorders for IFT172 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
short-rib thoracic dysplasia 10 with or without polydactyly
  • srtd10
retinitis pigmentosa 71
  • rp71
short-rib thoracic dysplasia 9 with or without polydactyly
  • renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia
asphyxiating thoracic dystrophy
  • jeune syndrome
joubert syndrome 1
  • joubert syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

IF172_HUMAN
  • 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.
  • 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.

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 (American journal of human genetics 2013) 2 3 4 60
  2. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PMID: 10574461) Hirosawa M … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 60
  3. Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome. (PMID: 26763875) Schaefer E … Dollfus H (Journal of human genetics 2016) 2 3 60
  4. Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome. (PMID: 25168386) Bujakowska KM … Pierce EA (Human molecular genetics 2015) 3 4 60
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60

Products for IFT172 Gene

Sources for IFT172 Gene

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