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IFT140 Gene

protein-coding   GIFtS: 50
GCID: GC16M001560

Intraflagellar Transport 140 Homolog (Chlamydomonas)

(Previous name: WD and tetratricopeptide repeats 2)
(Previous symbol: WDTC2)
  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 140 Homolog (Chlamydomonas)1 2     WD And Tetratricopeptide Repeats 21
WDTC21 2 3     c305C8.42
WD And Tetratricopeptide Repeats Protein 22 3     c380F5.12
MZSDS2 5     gs1142
SRTD92 5     Intraflagellar Transport Protein 140 Homolog2
KIAA05903 5     

External Ids:    HGNC: 290771   Entrez Gene: 97422   Ensembl: ENSG000001875357   OMIM: 6146205   UniProtKB: Q96RY73   

Export aliases for IFT140 gene to outside databases

Previous GC identifers: GC16M001503 GC16M001488


(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 IFT140 Gene:
This gene encodes one of the subunits of the intraflagellar transport (IFT) complex A. Intraflagellar transport is
involved in the genesis, resorption and signaling of primary cilia. The primary cilium is a microtubule-based
sensory organelle at the surface of most quiescent mammalian cells, that receives signals from its environment,
such as the flow of fluid, light or odors, and transduces those signals to the nucleus. Loss of the corresponding
protein in mouse results in renal cystic disease. (provided by RefSeq, Jun 2012)

GeneCards Summary for IFT140 Gene:
IFT140 (intraflagellar transport 140 homolog (Chlamydomonas)) is a protein-coding gene. Diseases associated with IFT140 include renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia, and asphyxiating thoracic dystrophy 2.

UniProtKB/Swiss-Prot: IF140_HUMAN, Q96RY7
Function: Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Plays a
pivotal role in proper development and function of ciliated cells. Involved in ciliogenesis and cilia maintenance




(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_000016.10  NT_010393.17  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the IFT140 gene promoter:
         AhR   HOXA9   HOXA9B   Pax-5   p300   Arnt   Meis-1b   AREB6   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIFT140 promoter sequence
   Search Chromatin IP Primers for IFT140

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat IFT140


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

Entrez Gene cytogenetic band: 16p13.3   Ensembl cytogenetic band:  16p13.3   HGNC cytogenetic band: 16p13.3

IFT140 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFT140 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M001560:  view genomic region     (about GC identifiers)

Start:
1,560,428 bp from pter      End:
1,662,111 bp from pter
Size:
101,684 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: IF140_HUMAN, Q96RY7 (See protein sequence)
Recommended Name: Intraflagellar transport protein 140 homolog  
Size: 1462 amino acids; 165193 Da
Subunit: Component of the IFT complex A (IFT-A)
Sequence caution: Sequence=BAA25516.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A2A2A8 D3DU75 O60332

Explore the universe of human proteins at neXtProt for IFT140: NX_Q96RY7

Explore proteomics data for IFT140 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys171, Lys877
  • Modification sites at PhosphoSitePlus

  • See IFT140 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055529.2  
    ENSEMBL proteins: 
     ENSP00000354895   ENSP00000406012   ENSP00000380562   ENSP00000458439   ENSP00000454781  
     ENSP00000457092  

    IFT140 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for IFT140

    IFT140 Antibody Products:

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    IFT140 Assay Products:

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    Cloud-Clone Corp. ELISAs for IFT140
    Cloud-Clone Corp. CLIAs for IFT140


    (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

    3 InterPro protein domains:
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q96RY7

    ProtoNet protein and cluster: Q96RY7

    1 Blocks protein domain: IPB002885 PPR repeat

    UniProtKB/Swiss-Prot: IF140_HUMAN, Q96RY7
    Similarity: Contains 9 TPR repeats
    Similarity: Contains 5 WD repeats


    IFT140 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: IF140_HUMAN, Q96RY7
    Function: Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport. Plays a
    pivotal role in proper development and function of ciliated cells. Involved in ciliogenesis and cilia maintenance

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005488binding ----
    GO:0005515protein binding ----
         
    IFT140 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Ift140):
     cardiovascular system  cellular  craniofacial  embryogenesis  limbs/digits/tail 
     mortality/aging  nervous system  no phenotypic analysis  renal/urinary system  vision/eye 

    IFT140 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IFT140
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IFT140
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IFT140

    miRNA
    Products:
        
    miRTarBase miRNAs that target IFT140:
    hsa-mir-93-3p (MIRT038876)

    Block miRNA regulation of human, mouse, rat IFT140 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate IFT140:
    hsa-miR-518f*
    SwitchGear 3'UTR luciferase reporter plasmidIFT140 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat IFT140

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT140


    (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
    IF140_HUMAN, Q96RY7: Cytoplasm, cytoskeleton, cilium basal body
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol2
    nucleus2
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005813centrosome IDA--
    GO:0005929cilium ----
    GO:0005930axoneme ISS--
    GO:0030991intraciliary transport particle A IDA--
    GO:0032391photoreceptor connecting cilium IEA--

    IFT140 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for IFT140
    Interactions:

        Search GeneGlobe Interaction Network for IFT140

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for IFT140 (Q96RY72, 3 ENSP000003548954) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NEK2P519552, 3MINT-8263687 I2D: score=2 
    PFDN1O609252, 3MINT-8265886 I2D: score=2 
    RANBP2P497923, ENSP000002831954I2D: score=3 STRING: ENSP00000283195
    CELSR3Q9NYQ73, ENSP000001640244I2D: score=2 STRING: ENSP00000164024
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042384cilium assembly IEA--
    GO:0048705skeletal system morphogenesis IMP--
    GO:0060041retina development in camera-type eye IMP--
    GO:0061512protein localization to cilium IMP--
    GO:0072001renal system development IMP--

    IFT140 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 IFT140 (IF140)



    (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 IFT140 gene: 
    NM_014714.3  

    Unigene Cluster for IFT140:

    Intraflagellar transport 140 homolog (Chlamydomonas)
    Hs.389438  [show with all ESTs]
    Unigene Representative Sequence: NM_014714
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361339 ENST00000426508(uc002clz.3 uc002cmb.3) ENST00000565298
    ENST00000397417 ENST00000568837 ENST00000566818 ENST00000439987 ENST00000561954
    ENST00000566052 ENST00000569646 ENST00000569812
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat IFT140 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate IFT140:
    hsa-miR-518f*
    SwitchGear 3'UTR luciferase reporter plasmidIFT140 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for IFT140
    Predesigned siRNA for gene silencing in human, mouse, rat IFT140
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: IFT140 (NM_014714)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IFT140
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IFT140
    Primer
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    OriGene qPCR primer pairs and template standards for IFT140
    OriGene qSTAR qPCR primer pairs in human, mouse for IFT140
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IFT140
      QuantiTect SYBR Green Assays in human, mouse, rat IFT140
      QuantiFast Probe-based Assays in human, mouse, rat IFT140

    Additional mRNA sequence: 

    AB011162.1 AB209020.1 AK001168.1 AK001797.1 AK023912.1 AK055133.1 AK299035.1 AK299115.1 
    AL080069.1 BC035577.1 BC112436.1 BC114455.1 BC117675.1 

    12 DOTS entries:

    DT.95163491  DT.100743787  DT.91969647  DT.120681731  DT.100743788  DT.40307423  DT.434528  DT.75145200 
    DT.75169554  DT.95163490  DT.91639950  DT.92425008 

    17 AceView cDNA sequences:

    AK055133 AK001168 BC035577 CD625978 AB011162 AL080069 NM_014714 BF943221 
    BF963207 BF742213 BM708945 AW392533 BF769449 BF958704 AK001797 BQ354682 
    BF905460 

    GeneLoc Exon Structure


    (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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    IFT140 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCTGTGTTGG
    IFT140 Expression
    About this image

    IFT140 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IFT140 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.389438
        Custom PCR Arrays for IFT140
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT140

    (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 IFT140 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ift1401 , 5 intraflagellar transport 140 homolog (Chlamydomonas)5
    intraflagellar transport 1401
    82.79(n)1
    81.74(a)1
      17 (12.53 cM)5
    1066331  NM_134126.31  NP_598887.31 
     250160915 
    chicken
    (Gallus gallus)
    Aves IFT1401 intraflagellar transport 140 homolog (Chlamydomonas) 71.3(n)
    73.09(a)
      416758  NM_001012792.1  NP_001012810.1 
    lizard
    (Anolis carolinensis)
    Reptilia IFT1406
    intraflagellar transport 140 homolog (Chlamydomona...
    69(a)
    1 ↔ 1
    GL343649.1(36515-116389)
    African clawed frog
    (Xenopus laevis)
    Amphibia BG578203.12   -- 78.06(n)    BG578203.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ift1401 intraflagellar transport 140 homolog (Chlamydomonas) 61.77(n)
    59.4(a)
      553213  XM_690640.5  XP_695732.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta rempA1 reduced mechanoreceptor potential A 49.47(n)
    37.67(a)
      33230  NM_205886.2  NP_995608.1 
    worm
    (Caenorhabditis elegans)
    Secernentea che-111 che-11 43.75(n)
    33.36(a)
      179666  NM_073646.5  NP_506047.5 


    ENSEMBL Gene Tree for IFT140 (if available)
    TreeFam Gene Tree for IFT140 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IFT140 gene
    1 SIMAP similar gene for IFT140 using alignment to 5 protein entries:     IF140_HUMAN (see all proteins):
    DKFZp564L232

    IFT140 for paralogs           About GeneDecksing



    (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 IFT140 (see all 2718)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0685284
    Mainzer-Saldino syndrome (MZSDS)4--see VAR_0685282 R Q mis40--------
    VAR_0685274
    Mainzer-Saldino syndrome (MZSDS)4--see VAR_0685272 G E mis40--------
    VAR_0685234
    Mainzer-Saldino syndrome (MZSDS)4--see VAR_0685232 G R mis40--------
    VAR_0685264
    Mainzer-Saldino syndrome (MZSDS)4--see VAR_0685262 Y C mis40--------
    VAR_0685244
    Mainzer-Saldino syndrome (MZSDS)4--see VAR_0685242 I M mis40--------
    VAR_0685254
    Mainzer-Saldino syndrome (MZSDS)4--see VAR_0685252 V M mis40--------
    VAR_0685294
    Mainzer-Saldino syndrome (MZSDS)4--see VAR_0685292 E K mis40--------
    rs746774731,2
    C,F--1494412(+) CAGGAC/TCACCC 1 -- int11Minor allele frequency- T:0.07WA 118
    rs71919861,2
    C,A--1494418(+) CACCCT/CCGCCG 1 -- int16Minor allele frequency- C:0.12NA CSA WA EA 364
    rs761407251,2
    C,F--1494448(+) AGCAGC/TGGCCT 1 -- int11Minor allele frequency- T:0.15EA 120

    HapMap Linkage Disequilibrium report for IFT140 (1560428 - 1662111 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for IFT140 (see all 20):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2750349CNV Deletion23290073
    esv2750347CNV Deletion23290073
    esv2750348CNV Deletion23290073
    esv2422427CNV Duplication17116639
    nsv904954CNV Loss21882294
    nsv904950CNV Loss21882294
    nsv833118CNV Loss17160897
    dgv2527n71CNV Loss21882294
    nsv905018CNV Loss21882294
    dgv2537n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): IFT140
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IFT140
    DNA2.0 Custom Variant and Variant Library Synthesis for IFT140

    (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: 614620   
    OMIM disorders: 266920  
    UniProtKB/Swiss-Prot: IF140_HUMAN, Q96RY7
  • Mainzer-Saldino syndrome (MZSDS) [MIM:266920]: A rare autosomal recessive disease characterized by
    phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic
    abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic
    fibrosis. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for IFT140:    
    About MalaCards
    renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia    asphyxiating thoracic dystrophy 2    asphyxiating thoracic dystrophy    cerebellar ataxia
    renal dysplasia    cystic kidney    fundus dystrophy    autosomal recessive disease
    short stature    ataxia    retinitis    hepatitis
    multiple myeloma    myeloma    malaria

    1 disease from the University of Copenhagen DISEASES database for IFT140:
    Asphyxiating thoracic dystrophy

    IFT140 for disorders           About GeneDecksing


    Export disorders for IFT140 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 IFT140 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with IFT140)
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    1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2, 3 Nagase T....Ohara O. (DNA Res. 1998)
    2. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. (PubMed id 22503633)1, 2 Perrault I.... Rozet J.M. (Am. J. Hum. Genet. 2012)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. (PubMed id 11157797)1, 2 Daniels R.J....Higgs D.R. (Hum. Mol. Genet. 2001)
    5. Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease. (PubMed id 23418020)1 Schmidts M....Bergmann C. (Hum. Mutat. 2013)
    6. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    7. Disruption of IFT complex A causes cystic kidneys without mitotic spindle misorientation. (PubMed id 22282595)1 Jonassen J.A....Pazour G.J. (J. Am. Soc. Nephrol. 2012)
    8. 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)
    9. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9742 HGNC: 29077 AceView: KIAA0590 Ensembl:ENSG00000187535 euGenes: HUgn9742
    ECgene: IFT140 H-InvDB: IFT140

    (According to HUGE)
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    HUGE: KIAA0590

    (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 IFT140 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 IFT140 gene:
    Search GeneIP for patents involving IFT140

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



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