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IFT172 Gene

protein-coding   GIFtS: 55
GCID: GC02M027667

Intraflagellar Transport 172 Homolog (Chlamydomonas)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Intraflagellar Transport 172 Homolog (Chlamydomonas)1 2     NPHP172
Wimple Homolog1 2     Intraflagellar Transport Protein 172 Homolog2
SLB2 5     osm-12
SRTD102 5     Selective LIM Binding Factor Homolog2
KIAA11793 5     wim2

External Ids:    HGNC: 303911   Entrez Gene: 261602   Ensembl: ENSG000001380027   OMIM: 6073865   UniProtKB: Q9UG013   

Export aliases for IFT172 gene to outside databases

Previous GC identifers: GC02M027580 GC02M027520 GC02M027409


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 homolog (Chlamydomonas)) is a protein-coding gene. Diseases associated with IFT172 include renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia, and asphyxiating thoracic dystrophy 2.

UniProtKB/Swiss-Prot: IF172_HUMAN, Q9UG01
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)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IFT172 gene promoter:
         CREB   deltaCREB   LCR-F1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIFT172 promoter sequence
   Search Chromatin IP Primers for IFT172

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IFT172


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p23.3   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23.3

IFT172 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFT172 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M027667:  view genomic region     (about GC identifiers)

Start:
27,667,238 bp from pter      End:
27,712,656 bp from pter
Size:
45,419 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: IF172_HUMAN, Q9UG01 (See protein sequence)
Recommended Name: Intraflagellar transport protein 172 homolog  
Size: 1749 amino acids; 197576 Da
Subunit: Interacts with IFT88 (By similarity). Interacts with RABL2/RABL2A; binds preferentially to GDP-bound
RABL2 (By similarity)
Secondary accessions: B2RNU5 Q86X44 Q96HW4 Q9UFJ9 Q9ULP1
Alternative splicing: 2 isoforms:  Q9UG01-1   Q9UG01-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IFT172: NX_Q9UG01

Explore proteomics data for IFT172 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys499
  • Modification sites at PhosphoSitePlus

  • See IFT172 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056477.1  
    ENSEMBL proteins: 
     ENSP00000260570   ENSP00000427255   ENSP00000398633   ENSP00000399017   ENSP00000404082  
     ENSP00000352443   ENSP00000407408  

    IFT172 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IFT: Intraflagellar transport homologs
    WDR: WD repeat domain containing

    4 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q9UG01

    ProtoNet protein and cluster: Q9UG01

    UniProtKB/Swiss-Prot: IF172_HUMAN, Q9UG01
    Similarity: Belongs to the IFT172 family
    Similarity: Contains 14 TPR repeats
    Similarity: Contains 9 WD repeats


    IFT172 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IF172_HUMAN, Q9UG01
    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)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding ----
         
    IFT172 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for IFT172:
     Decreased number of cells in m 

         13 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Ift172):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     homeostasis/metabolism  limbs/digits/tail  mortality/aging  nervous system  renal/urinary system 
     respiratory system  skeleton  vision/eye 

    IFT172 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for IFT172: Ift172tm1.2Rama Ift172tm1Lmgd

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IFT172
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IFT172
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IFT172

    miRNA
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    miRTarBase miRNAs that target IFT172:
    hsa-mir-92a-3p (MIRT049558)

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT172


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IF172_HUMAN, Q9UG01: Cell projection, cilium (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    cytoskeleton1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005929cilium ISS--

    IFT172 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for IFT172 About    
    See pathways by source

    SuperPathContained pathways About
    1Hedgehog signaling events mediated by Gli proteins
    Hedgehog signaling events mediated by Gli proteins


    1 BioSystems Pathway for IFT172
        Hedgehog signaling events mediated by Gli proteins


        Pathway & Disease-focused RT2 Profiler PCR Arrays including IFT172: 
              Primary Cilia in human mouse rat
              Oxidative Stress in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for IFT172

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for IFT172 (Q9UG013 ENSP000002605704) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LHX3Q9UBR43, ENSP000003608114I2D: score=2 STRING: ENSP00000360811
    LHX4Q969G23, ENSP000002637264I2D: score=2 STRING: ENSP00000263726
    NCAM2O153943, ENSP000003833924I2D: score=1 STRING: ENSP00000383392
    EGFRP005333I2D: score=1 
    GRB2P629933I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001841neural tube formation IEA--
    GO:0007224smoothened signaling pathway IEA--
    GO:0007368determination of left/right symmetry IEA--
    GO:0009953dorsal/ventral pattern formation IEA--
    GO:0016485protein processing IEA--

    IFT172 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IFT172 (IF172)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for IFT172 gene: 
    NM_015662.2  

    Unigene Cluster for IFT172:

    Intraflagellar transport 172 homolog (Chlamydomonas)
    Hs.127401  [show with all ESTs]
    Unigene Representative Sequence: BC144491
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260570(uc010ezb.3 uc002rku.3) ENST00000509128 ENST00000507184
    ENST00000494163 ENST00000479419 ENST00000420854 ENST00000480892 ENST00000450564
    ENST00000443889 ENST00000475909 ENST00000476693 ENST00000489492 ENST00000463613
    ENST00000511842 ENST00000359466(uc010yls.2 uc010ezc.3 uc002rkv.3)
    ENST00000416524 ENST00000476264 ENST00000475476(uc010ylt.1)
    miRNA
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    GenScript: all cDNA clones in your preferred vector: IFT172 (NM_015662)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFT172
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      QuantiTect SYBR Green Assays in human, mouse, rat IFT172
      QuantiFast Probe-based Assays in human, mouse, rat IFT172

    Additional mRNA sequence: 

    AB033005.1 AK055826.1 AK299576.1 AK304658.1 AK310417.1 AL110218.1 AL117421.1 BC008024.1 
    BC014849.1 BC038461.1 BC047294.1 BC137126.1 BC142675.1 BC142729.1 BC144491.1 EU599578.1 
    EU599579.1 

    18 DOTS entries:

    DT.442085  DT.91735801  DT.120979936  DT.95162214  DT.95162217  DT.101963001  DT.120979950  DT.414261 
    DT.86849272  DT.91735798  DT.100738374  DT.100779561  DT.100779562  DT.91735800  DT.101958746  DT.120979984 
    DT.40313316  DT.91735797 

    Selected AceView cDNA sequences (see all 130):

    AA397843 BM768508 BM725853 AL044281 AI680202 AV654865 CB850637 AI207350 
    AA236655 AL556841 AB033005 BM677970 BG541482 BQ639380 NM_015662 AI222905 
    CR603740 CD366882 BQ004378 CB243480 AL110218 CD364565 AA954499 AI679114 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for IFT172 (see all 10)    About this scheme

    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:                                -                                                                                                                           

    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:                                                                                                                                                            

    ExUns: 41 ^ 42 ^ 43a · 43b ^ 44
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for IFT172

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IFT172 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACCAGCGGC
    IFT172 Expression
    About this image

    IFT172 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IFT172 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.127401
        Pathway & Disease-focused RT2 Profiler PCR Arrays including IFT172: 
              Primary Cilia in human mouse rat
              Oxidative Stress in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT172

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for IFT172 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ift1721 , 5 intraflagellar transport 172 homolog (Chlamydomonas) less5
    intraflagellar transport 1721
    89.4(n)1
    95.88(a)1
      5 (17.27 cM)5
    676611  NM_026298.51  NP_080574.51 
     312532805 
    chicken
    (Gallus gallus)
    Aves IFT1721 intraflagellar transport 172 homolog (Chlamydomonas) less 75.47(n)
    81.36(a)
      421983  XM_419993.4  XP_419993.2 
    lizard
    (Anolis carolinensis)
    Reptilia IFT1726
    intraflagellar transport 172 homolog (Chlamydomona...
    76(a)
    1 ↔ 1
    GL344537.1(1100-28956)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.191702 Transcribed sequence with moderate similarity to protein pirT14758 (H.sapiens) T14758 hypothetical protein DKFZp434A163.1 - human (fragment) less 75.27(n)    BX774738.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.197712 Transcribed sequence with moderate similarity to protein pirT14758 (H.sapiens) T14758 hypothetical protein DKFZp434A163.1 - human (fragment) less 76.55(n)    BQ075066.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta osm-11 osm-1 54.11(n)
    48.09(a)
      38282  NM_139443.2  NP_647700.2 
    worm
    (Caenorhabditis elegans)
    Secernentea osm-11 osm-1 51.49(n)
    43.31(a)
      181715  NM_078280.6  NP_510681.4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IFT172 (see all 987)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1900311241,2
    --27669888(+) TGTTTG/TTAGTA 1 -- int10--------
    rs116872151,2
    C,F,H--27669906(+) ggtttC/Taccac 1 -- int11Minor allele frequency- T:0.33NA 6
    rs116872171,2
    C,A,H--27669911(+) caccaT/Cgttgg 1 -- int12Minor allele frequency- C:0.17NA 6
    rs1831551981,2
    --27669918(+) TTGGCC/TAGGCT 1 -- int10--------
    rs116872191,2
    C,F,H--27669922(+) ccaggC/Atggtc 1 -- int11Minor allele frequency- A:0.33NA 6
    rs1177030141,2
    C,F--27670225(+) CAGCAA/GGGGCT 1 -- int11Minor allele frequency- G:0.02EA 120
    rs111269991,2
    C,F,H--27670307(+) AGAACG/ATGAAT 1 -- int118Minor allele frequency- A:0.32NS EA NA CSA WA 2344
    rs782879531,2
    C,F--27670356(+) CTGAGT/CGTTCC 1 -- int11Minor allele frequency- C:0.06WA 118
    rs1430604521,2
    C,F--27670366(+) CTTCGA/GCCCCC 1 -- int11Minor allele frequency- G:0.01EU 1323
    rs2021810281,2
    --27670443(+) GCATCA/GTCTTG 2 T M mis10--------

    HapMap Linkage Disequilibrium report for IFT172 (27667238 - 27712656 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for IFT172:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv873754CNV Loss21882294
    nsv817684CNV Gain17921354
    nsv833614CNV Gain17160897

    Human Gene Mutation Database (HGMD): IFT172
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing IFT172
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607386   
    OMIM disorders: 615630  
    9 diseases for IFT172:    
    About MalaCards
    renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia    asphyxiating thoracic dystrophy 2    vacterl association    adult t-cell leukemia
    t-cell leukemia    kidney disease    leukemia    malaria
    neuronitis

    1 disease from the University of Copenhagen DISEASES database for IFT172:
    VACTERL association

    IFT172 for disorders           About GeneDecksing

    Genetic Association Database (GAD): IFT172
    Human Genome Epidemiology (HuGE) Navigator: IFT172 (1 document)

    Export disorders for IFT172 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for IFT172 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with IFT172)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain. (PubMed id 10574461)1, 2, 3 Hirosawa M.... Ohara O. (DNA Res. 1999)
    2. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. (PubMed id 24140113)1, 3 Halbritter J....Hildebrandt F. (Am. J. Hum. Genet. 2013)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Identification of a conserved protein that interacts with specific LIM homeodomain transcription factors. (PubMed id 10788441)1, 3 Howard P.W. and Maurer R.A. (J. Biol. Chem. 2000)
    5. Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci. (PubMed id 23505323)1 Weissglas-Volkov D....Pajukanta P. (J. Med. Genet. 2013)
    6. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    7. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    8. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    9. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    10. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 26160 HGNC: 30391 AceView: SLB Ensembl:ENSG00000138002 euGenes: HUgn26160
    ECgene: IFT172 H-InvDB: IFT172

    (According to HUGE)
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    HUGE: KIAA1179

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IFT172 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for IFT172 gene:
    Search GeneIP for patents involving IFT172

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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