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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IFT74 Gene

protein-coding   GIFtS: 47
GCID: GC09P026947

Intraflagellar Transport 74 Homolog (Chlamydomonas)

(Previous name: coiled-coil domain containing 2)
(Previous symbol: CCDC2)
  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)
About This Section

Aliases
Intraflagellar Transport 74 Homolog (Chlamydomonas)1 2     Capillary Morphogenesis Gene 1 Protein2 3
CCDC21 2 3 5     Coiled-Coil Domain-Containing Protein 22 3
CMG12 3 5     CMG-12 3
Coiled-Coil Domain Containing 21 2     Intraflagellar Transport Protein 74 Homolog2
Capillary Morphogenesis Protein 11 2     

External Ids:    HGNC: 214241   Entrez Gene: 801732   Ensembl: ENSG000000968727   OMIM: 6080405   UniProtKB: Q96LB33   

Export aliases for IFT74 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for IFT74 Gene: 
IFT74 (intraflagellar transport 74 homolog (Chlamydomonas)) is a protein-coding gene. Diseases associated with IFT74 include frontotemporal dementia, and dementia. GO annotations related to this gene include chromatin binding.

Gene Wiki entry for IFT74 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_008413.18  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IFT74 gene promoter:
         AP-2beta   AP-2gamma   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIFT74 promoter sequence
   Search SABiosciences Chromatin IP Primers for IFT74

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IFT74


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

Entrez Gene cytogenetic band: 9p21.2   Ensembl cytogenetic band:  9p21.2   HGNC cytogenetic band: 9p21.1

IFT74 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFT74 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P026947:  view genomic region     (about GC identifiers)

Start:
26,947,037 bp from pter      End:
27,062,931 bp from pter
Size:
115,895 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: IFT74_HUMAN, Q96LB3 (See protein sequence)
Recommended Name: Intraflagellar transport protein 74 homolog  
Size: 600 amino acids; 69239 Da
Subcellular location: Cytoplasmic vesicle. Note=Intracellular vesicular compartment
Sequence caution: Sequence=BAB14650.1; Type=Erroneous termination; Positions=159; Note=Translated as Lys;
Sequence=BAB15423.1; Type=Erroneous initiation;
Secondary accessions: Q3B789 Q5VY34 Q6PGQ8 Q9H643 Q9H8G7
Alternative splicing: 2 isoforms:  Q96LB3-1   Q96LB3-2   

Explore the universe of human proteins at neXtProt for IFT74: NX_Q96LB3

Explore proteomics data for IFT74 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96LB3

  • IFT74 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IFT74 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001092692.1  NP_001092693.1  NP_001092694.1  NP_079379.2  

    ENSEMBL proteins: 
     ENSP00000430004   ENSP00000430096   ENSP00000369402   ENSP00000430526   ENSP00000393907  
     ENSP00000430742   ENSP00000389224   ENSP00000404122  

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    Cloud-Clone Corp. Proteins for IFT74 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA--
    GO:0005813centrosome IDA--
    GO:0016023cytoplasmic membrane-bounded vesicle IEA--
    GO:0030992intraflagellar transport particle B ISS--

    IFT74 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    IFT: Intraflagellar transport homologs

    ProtoNet protein and cluster: Q96LB3


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
         
    IFT74 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ift74):
     cardiovascular system  growth/size  respiratory system 

    IFT74 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for IFT74 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for IFT74

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for IFT74 (ENSP000003694024) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IFT27ENSP000003435934STRING: ENSP00000343593
    IFT52ENSP000003621214STRING: ENSP00000362121
    IFT81ENSP000002425914STRING: ENSP00000242591
    IFT88ENSP000003235804STRING: ENSP00000323580
    DYNC2LI1ENSP000002606054STRING: ENSP00000260605
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0033630positive regulation of cell adhesion mediated by integrin IEA--
    GO:0045944positive regulation of transcription from RNA polymerase II promoter IEA--

    IFT74 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IFT74

    Search CenterWatch for drugs/clinical trials and news about IFT74

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for IFT74 gene (4 alternative transcripts): 
    NM_001099222.1  NM_001099223.1  NM_001099224.1  NM_025103.2  

    Unigene Cluster for IFT74:

    Intraflagellar transport 74 homolog (Chlamydomonas)
    Hs.145402  [show with all ESTs]
    Unigene Representative Sequence: NM_001099222
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000519968 ENST00000517444 ENST00000380062(uc003zqg.4) ENST00000518614
    ENST00000429045(uc003zqf.4) ENST00000517866 ENST00000494236 ENST00000482986
    ENST00000433700(uc010mja.3) ENST00000443698(uc010mjb.3)
    miRNA
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    Additional mRNA sequence: 

    AK023707.1 AK026274.1 AK225570.1 AY040325.1 BC023634.2 BC056875.1 BC107742.1 BC113524.1 
    BC113526.1 

    11 DOTS entries:

    DT.95369755  DT.40209770  DT.213564  DT.121169020  DT.99999977  DT.100024408  DT.101969749  DT.121169029 
    DT.121169056  DT.91731942  DT.95283063 

    24/107 AceView cDNA sequences (see all 107):

    AI370731 BC023634 BC056875 CR621331 AA864905 AY040325 W95494 AA029010 
    CR617782 AI630740 CA397989 BG540890 BG287033 AA975848 CA425929 CD677826 
    BM975339 W95531 CA397990 AI919195 AA804783 CF128892 N22136 AW072447 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IFT74 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATTTAGAGG
    IFT74 Expression
    About this image


    See IFT74 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IFT74

    SOURCE GeneReport for Unigene cluster: Hs.145402

    UniProtKB/Swiss-Prot: IFT74_HUMAN, Q96LB3
    Tissue specificity: Highly expressed in adult and fetal kidney and expressed at lower level in adult heart,
    placenta, lung, liver and pancreas, and in fetal heart, lung and liver. Little to no expression was detected in
    adult brain and skeletal muscle or in fetal brain, thymus and spleen

        SABiosciences Expression via Pathway-Focused PCR Array including IFT74: 
              Primary Cilia in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT74

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for IFT74 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ift741 , 5 intraflagellar transport 74 homolog (Chlamydomonas)5
    intraflagellar transport 741
    88.18(n)1
    88.13(a)1
      4 (43.34 cM)5
    676941  NM_026319.21  NP_080595.21 
     946144915 
    chicken
    (Gallus gallus)
    Aves IFT741 intraflagellar transport 74 homolog (Chlamydomonas) 72.78(n)
    66.38(a)
      427367  XM_003643070.1  XP_003643118.1 
    lizard
    (Anolis carolinensis)
    Reptilia IFT746
    intraflagellar transport 74 homolog (Chlamydomonas...
    73(a)
    1 ↔ 1
    2(58948408-58972805)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:920521 zgc:92052 60.74(n)
    57.44(a)
      436658  NM_001002385.1  NP_001002385.1 
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0047241 AGAP004724-PA 43.91(n)
    29.23(a)
      1278504  XM_318104.4  XP_318104.4 
    worm
    (Caenorhabditis elegans)
    Secernentea ift-741 Protein IFT-74 44.26(n)
    26.63(a)
      174102  NM_062958.2  NP_495359.1 


    ENSEMBL Gene Tree for IFT74 (if available)
    TreeFam Gene Tree for IFT74 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IFT74 gene
    6 SIMAP similar genes for IFT74 using alignment to 7 protein entries:     IFT74_HUMAN (see all proteins):
    FAM3A    CNOT2    NSD1    C12orf23    ZNF738    UTY

    IFT74 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2055 SNPs in IFT74 are shown (see all 2055)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1431954151,2
    --26949570(+) TTCCCA/TGTGTA 2 -- int10--------
    rs1482600141,2
    --26949581(+) ATTGCC/TTGCTG 2 -- int10--------
    rs1412624941,2
    C--26949597(+) CAAAAA/CACCAA 2 -- int10--------
    rs1474150881,2
    --26949637(+) GGAAAC/GATGAA 2 -- int10--------
    rs122378671,2
    C,F--26949686(+) ttctcA/Gaatcc 2 -- int12Minor allele frequency- G:0.40WA EA 238
    rs1895257301,2
    C--26949762(+) GAAATA/GCTAAT 2 -- int10--------
    rs625466851,2
    C,F--26949822(+) CCTGAG/CTCATT 2 -- int14Minor allele frequency- C:0.08WA NA 242
    rs1812299521,2
    --26949947(+) TAGGAG/TTACTT 2 -- int10--------
    rs1866980081,2
    --26949953(+) TACTTA/GGCGAA 2 -- int10--------
    rs1899386671,2
    --26949962(+) AAGTTA/TCAAAT 2 -- int10--------

    HapMap Linkage Disequilibrium report for IFT74 (26947037 - 27062931 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for IFT74:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2677119CNV Deletion23128226
    nsv466334CNV Loss19166990
    nsv528614CNV Gain19592680
    nsv517269CNV Gain19592680
    nsv892862CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608040    OMIM disorders: --

    4 diseases for IFT74:    About MalaCards
    frontotemporal dementia    dementia    lateral sclerosis    amyotrophic lateral sclerosis

    1 disease from the University of Copenhagen DISEASES database for IFT74:
    Frontotemporal dementia

    IFT74 for disorders           About GeneDecksing

    Genetic Association Database (GAD): IFT74

    Export disorders for IFT74 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)
    About This Section

    PubMed articles for IFT74 gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with IFT74)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling. (PubMed id 11683410)1, 2, 3 Bell S.E.... Davis G.E. (2001)
    2. 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. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. Molecular basis of tubulin transport within the cilium by IFT74 and IFT81. (PubMed id 23990561)1 Bhogaraju S....Lorentzen E. (2013)
    5. The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)1 Aichem A....Groettrup M. (2012)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    8. Genetic studies of GRN and IFT74 in amyotrophic lateral sclerosis. (PubMed id 17383054)1 Xiao S....Rogaeva E. (2008)
    9. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    10. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)

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

      Query String
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    OMIM
    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80173 HGNC: 21424 AceView: CCDC2 Ensembl:ENSG00000096872 euGenes: HUgn80173
    ECgene: IFT74 H-InvDB: IFT74

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IFT74 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for IFT74 gene:
    Search GeneIP for patents involving IFT74

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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