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

IFT122 Gene

protein-coding   GIFtS: 51
GCID: GC03P129158

Intraflagellar Transport 122 Homolog (Chlamydomonas)

(Previous name: WD repeat domain 10)
(Previous symbol: WDR10)
  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 122 Homolog (Chlamydomonas)1 2     WD Repeat-Containing Protein 1402 3
WDR101 2 3 5     CED2 5
WD Repeat Domain 101 2     CED12
SPG2 3     WDR10p2
WDR1402 3     Intraflagellar Transport Protein 122 Homolog2
WD Repeat-Containing Protein 102 3     

External Ids:    HGNC: 135561   Entrez Gene: 557642   Ensembl: ENSG000001639137   OMIM: 6060455   UniProtKB: Q9HBG63   

Export aliases for IFT122 gene to outside databases

Previous GC identifers: GC03P130642 GC03P126542


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

Entrez Gene summary for IFT122 Gene:
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of
approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation
of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular
processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This
cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory
molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related
pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding
different isoforms. (provided by RefSeq, Jul 2013)

GeneCards Summary for IFT122 Gene: 
IFT122 (intraflagellar transport 122 homolog (Chlamydomonas)) is a protein-coding gene. Diseases associated with IFT122 include afferent loop syndrome, and cranioectodermal dysplasia 1. GO annotations related to this gene include protein binding.

UniProtKB/Swiss-Prot: IF122_HUMAN, Q9HBG6
Function: Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling.
Required to recruit TULP3 to primary cilia (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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IFT122 gene promoter:
         FOXF2   Pbx1a   AML1a   AP-4   Nkx2-5   CREB   Pax-3   deltaCREB   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): IFT122 promoter sequence
   Search SABiosciences Chromatin IP Primers for IFT122

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IFT122


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

Entrez Gene cytogenetic band: 3q21   Ensembl cytogenetic band:  3q21.3   HGNC cytogenetic band: 3q21

IFT122 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IFT122 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P129158:  view genomic region     (about GC identifiers)

Start:
129,158,968 bp from pter      End:
129,239,198 bp from pter
Size:
80,231 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: IF122_HUMAN, Q9HBG6 (See protein sequence)
Recommended Name: Intraflagellar transport protein 122 homolog  
Size: 1241 amino acids; 141825 Da
Subunit: Component of the IFT complex A (IFT-A) complex
Subcellular location: Cytoplasm. Cell projection, cilium (By similarity). Cytoplasm, cytoskeleton, cilium basal
body (By similarity). Note=Localizes to photoreceptor connecting cilia (By similarity)
Secondary accessions: G3XAB1 Q53G36 Q9BTB9 Q9BTY4 Q9HAT9 Q9HBG5 Q9UF80
Alternative splicing: 5 isoforms:  Q9HBG6-1   Q9HBG6-2   Q9HBG6-3   Q9HBG6-4   Q9HBG6-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for IFT122: NX_Q9HBG6

Explore proteomics data for IFT122 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HBG6

  • IFT122 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    IFT122 Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_001267470.1  NP_001267475.1  NP_060732.2  NP_443711.2  NP_443715.1  NP_443716.1  NP_001267474.1  

    ENSEMBL proteins: 
     ENSP00000323973   ENSP00000296266   ENSP00000425536   ENSP00000421953   ENSP00000422179  
     ENSP00000324165   ENSP00000324005   ENSP00000423902   ENSP00000427061   ENSP00000427027  
     ENSP00000423921   ENSP00000421140   ENSP00000425540   ENSP00000424206   ENSP00000423288  
     ENSP00000422237   ENSP00000424727   ENSP00000427515   ENSP00000410946   ENSP00000401569  

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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for IFT122 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005932microtubule basal body IEA--
    GO:0030991intraflagellar transport particle A IDA--
    GO:0032391photoreceptor connecting cilium ISS--
    GO:0072372primary cilium ISS--

    IFT122 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
    WDR: WD repeat domain containing

    4 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom
     IPR015943 WD40/YVTN_repeat-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9HBG6

    ProtoNet protein and cluster: Q9HBG6

    UniProtKB/Swiss-Prot: IF122_HUMAN, Q9HBG6
    Similarity: Contains 7 WD repeats


    IFT122 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,
    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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IF122_HUMAN, Q9HBG6
    Function: Required for cilia formation during neuronal patterning. Acts as a negative regulator of Shh signaling.
    Required to recruit TULP3 to primary cilia (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    IFT122 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for IFT122:
     Increased cell number in S 

         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ift122):
     behavior/neurological  cardiovascular system  cellular  craniofacial  digestive/alimentary 
     embryogenesis  growth/size  homeostasis/metabolism  limbs/digits/tail  mortality/aging 
     nervous system  vision/eye 

    IFT122 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Mbd4/Ift122Mbd4/tm1Abc for IFT122

       inGenious Targeting Laboratory - Custom generated mouse model solutions for IFT122 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IFT122 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IFT122 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT122


    (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 IFT122

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for IFT122 (Q9HBG61 ENSP000002962664) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    IQCB1ENSP000003115054STRING: ENSP00000311505
    ORFQ9Q2G41EBI-2805994,EBI-6248094
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001843neural tube closure ISS--
    GO:0009953dorsal/ventral pattern formation ----
    GO:0010172embryonic body morphogenesis ISS--
    GO:0035050embryonic heart tube development ISS--
    GO:0035721intraflagellar retrograde transport ISS--

    IFT122 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 IFT122 (IF122)

    Search CenterWatch for drugs/clinical trials and news about IFT122 / IF122

    (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 IFT122 gene (7 alternative transcripts): 
    NM_001280541.1  NM_001280546.1  NM_018262.3  NM_052985.3  NM_052989.2  NM_052990.2  NM_001280545.1  

    Unigene Cluster for IFT122:

    Intraflagellar transport 122 homolog (Chlamydomonas)
    Hs.655284  [show with all ESTs]
    Unigene Representative Sequence: NM_052985
    18/32 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 32):
    ENST00000347300(uc011bkx.1 uc003emn.3 uc003emo.3 uc011bky.2)
    ENST00000296266(uc003eml.3 uc003emm.3 uc010htc.3) ENST00000507564
    ENST00000512220 ENST00000504021(uc011bkz.1 uc011bla.2 uc003emr.3 uc003ems.3)
    ENST00000349441 ENST00000348417 ENST00000506507 ENST00000504653 ENST00000510524
    ENST00000502456 ENST00000502304 ENST00000514275 ENST00000508826 ENST00000509195
    ENST00000509815 ENST00000512157 ENST00000515783
    miRNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IFT122

    Additional mRNA sequence: 

    AF244930.1 AF244931.1 AF302154.1 AK001759.1 AK001955.1 AK022525.1 AK023000.1 AK094922.1 
    AK096891.1 AK122965.1 AK124140.1 AK124746.1 AK223095.1 AK293852.1 AK294515.1 AK298526.1 
    AK299903.1 AK307463.1 AK315103.1 AL133565.1 AL833851.1 BC003045.1 BC004238.2 BC028353.2 

    24/29 DOTS entries (see all 29):

    DT.101975207  DT.100779262  DT.97859078  DT.120893181  DT.100795821  DT.95278315  DT.120893262  DT.97859077 
    DT.120893288  DT.97859075  DT.92035781  DT.40269058  DT.100795818  DT.97768451  DT.91745898  DT.120893211 
    DT.92035783  DT.100673076  DT.106993  DT.87015722  DT.91847028  DT.100795817  DT.120893166  DT.120893199 

    24/202 AceView cDNA sequences (see all 202):

    CB122183 BE744218 BM976578 AK001759 AK001955 CA489076 NM_018262 AK096891 
    AK024435 AK124140 CR614053 AL133565 BF513844 BC028353 CA306346 NM_052985 
    AK122965 BM466117 NM_052990 CA421281 AA362438 BE266559 CD674266 BM666143 

    GeneLoc Exon Structure

    5/19 Alternative Splicing Database (ASD) splice patterns (SP) for IFT122 (see all 19)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13a ·
    SP1:                                                        -                       -                       -                                               -   
    SP2:                                                        -                                   -           -                                               -   
    SP3:                                                        -                       -           -           -                                               -   
    SP4:                                                        -                       -           -           -                             -                 -   
    SP5:                                                        -                       -           -           -                       -     -     -           -   

    ExUns: 13b ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20a · 20b · 20c ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b · 23c ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^
    SP1:                                                  -     -                                                                                                   
    SP2:                                                  -     -                                                                                                   
    SP3:                                                  -     -                                                                                                   
    SP4:                                                  -     -                                                                                                   
    SP5:                                                  -     -                                                                                                   

    ExUns: 30 ^ 31 ^ 32 ^ 33 ^ 34
    SP1:                              
    SP2:                              
    SP3:                              
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for IFT122

    (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

    IFT122 expression in normal human tissues (normalized intensities)      IFT122 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCAGCATCC
    IFT122 Expression
    About this image


    IFT122 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             Seminiferous Tubules

    See IFT122 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IFT122

    SOURCE GeneReport for Unigene cluster: Hs.655284

    UniProtKB/Swiss-Prot: IF122_HUMAN, Q9HBG6
    Tissue specificity: Expressed in many tissues. Predominant expression in testis and pituitary

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IFT122

    (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 IFT122 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ift1221 , 5 intraflagellar transport 122 homolog (Chlamydomonas)5
    intraflagellar transport 1221
    88.07(n)1
    91.54(a)1
      6 (53.72 cM)5
    818961  NM_031177.41  NP_112454.21 
     1158534705 
    chicken
    (Gallus gallus)
    Aves IFT1221 intraflagellar transport 122 homolog (Chlamydomonas) 76.94(n)
    85.53(a)
      416123  XM_414454.3  XP_414454.3 
    lizard
    (Anolis carolinensis)
    Reptilia IFT1226
    Uncharacterized protein
    83(a)
    1 ↔ 1
    GL343273.1(659100-747441)
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.153772 Danio rerio, Similar to WD repeat domain 10, clone more 78.39(n)    BC046893.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Oseg11 CG7161-PA 54.84(n)
    48.02(a)
      38957  NM_139964.2  NP_648221.3 
    worm
    (Caenorhabditis elegans)
    Secernentea daf-101 Protein DAF-10 48.77(n)
    41.46(a)
      184883  NM_069190.2  NP_501591.2 


    ENSEMBL Gene Tree for IFT122 (if available)
    TreeFam Gene Tree for IFT122 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IFT122 gene
    18/51 SIMAP similar genes for IFT122 using alignment to 19 protein entries:     IF122_HUMAN (see all proteins) (see all similar genes):
    COX7A2    MTA3    NUSAP1    ZNF568    DKFZp434O139    CCPG1
    KLHDC1    NSRP1    THADA    ZNF738    DKFZp434K016    FAM3A
    ZNF480    IPO7    NSD1    ZNHIT3    FLJ00025    SCLT1

    IFT122 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for IFT122
    PGOHUM00000250254 PGOHUM00000259868


    (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

    10/1889 SNPs in IFT122 are shown (see all 1889)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0635864
    Cranioectodermal dysplasia 1 (CED1)4--see VAR_0635862 V G mis40--------
    VAR_0635844
    Cranioectodermal dysplasia 1 (CED1)4--see VAR_0635842 W C mis40--------
    VAR_0635854
    Cranioectodermal dysplasia 1 (CED1)4--see VAR_0635852 S F mis40--------
    rs1868203821,2
    --129140034(+) TTTTCA/GGATTA 4 -- us2k10--------
    rs1905682251,2
    --129140082(+) ACTTAA/CCATAA 4 -- us2k10--------
    rs748168731,2
    C--129140295(+) TCATTA/CTTGAT 4 -- us2k10--------
    rs781164801,2
    C--129140299(+) TCTTGA/TTCCTC 4 -- us2k10--------
    rs764011571,2
    C--129140300(+) CTTGAA/TCCTCA 4 -- us2k10--------
    rs2022215641,2
    --129140552(+) AGAGC-/AACAGT 4 -- us2k10--------
    rs575934551,2
    C--129140554(+) GAGCAA/CAGTGA 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for IFT122 (129158968 - 129239198 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for IFT122:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2725901CNV Deletion23290073
    esv2725902CNV Deletion23290073
    esv2725903CNV Deletion23290073
    dgv5254n71CNV Loss21882294
    dgv5255n71CNV Loss21882294
    esv27221CNV Loss19812545
    nsv3998CNV Loss18451855
    nsv877476CNV Gain21882294
    nsv877475CNV Gain21882294


    Human Gene Mutation Database (HGMD): IFT122

    Locus Specific Mutation Databases (LSDB): IFT122
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing IFT122
    DNA2.0 Custom Variant and Variant Library Synthesis for IFT122

    (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: 606045   
    OMIM disorders: 218330  
    UniProtKB/Swiss-Prot: IF122_HUMAN, Q9HBG6
  • Cranioectodermal dysplasia 1 (CED1) [MIM:218330]: A disorder characterized by craniofacial, skeletal and
    ectodermal abnormalities. Clinical features include dolichocephaly (with or without sagittal suture synostosis),
    scaphocephaly, short stature, limb shortening, short ribs, narrow chest, brachydactyly, renal failure and hepatic
    fibrosis, small and abnormally shaped teeth, sparse hair, skin laxity and abnormal nails. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 18 diseases for IFT122:    About MalaCards
    afferent loop syndrome    cranioectodermal dysplasia 1    japanese spotted fever    sensenbrenner syndrome
    endemic typhus    vasomotor rhinitis    vestibular neuronitis    spotted fever
    trigeminal neuralgia    pelizaeus-merzbacher disease    synostosis    typhus
    brachydactyly    paraplegia    short stature    rhinitis
    neuronitis    hepatitis

    4 diseases from the University of Copenhagen DISEASES database for IFT122:
    Paraplegia     Sensenbrenner syndrome     Afferent loop syndrome     Pelizaeus-Merzbacher disease

    IFT122 for disorders           About GeneDecksing


    Export disorders for IFT122 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 IFT122 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with IFT122)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of human WDR10, a novel gene located at 3q21 encoding a WD-repeat protein that is highly expressed in pituitary and testis. (PubMed id 11242542)1, 2, 3, 9 Gross C.... Messiaen L. (2001)
    2. Cranioectodermal Dysplasia, Sensenbrenner syndrome, i s a ciliopathy caused by mutations in the IFT122 gene. (PubMed id 20493458)1, 2 Walczak-Sztulpa J....Kuss A.W. (2010)
    3. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    4. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia. (PubMed id 20889716)2 Mukhopadhyay S....Jackson P.K. (2010)
    8. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    9. A germline-specific class of small RNAs binds mammali an Piwi proteins. (PubMed id 16751776)1 Girard A....Carmell M.A. (2006)
    10. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 55764 HGNC: 13556 AceView: WDR10 Ensembl:ENSG00000163913 euGenes: HUgn55764
    ECgene: IFT122 H-InvDB: IFT122

    (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 IFT122 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 IFT122 gene:
    Search GeneIP for patents involving IFT122

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



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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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