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KIF7 Gene

protein-coding   GIFtS: 51
GCID: GC15M090171

Kinesin Family Member 7

  See KIF7-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
Kinesin Family Member 71 2     EQYK3402
ACLS2 5     UNQ3402
HLS22 5     Kinesin-Like Protein KIF72
JBTS122 5     

External Ids:    HGNC: 304971   Entrez Gene: 3746542   Ensembl: ENSG000001668137   OMIM: 6112545   UniProtKB: Q2M1P53   

Export aliases for KIF7 gene to outside databases

Previous GC identifers: GC15M087973 GC15M066284


(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 KIF7 Gene:
This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the
sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a
negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand,
and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene
have been associated with various ciliopathies. (provided by RefSeq, Oct 2011)

GeneCards Summary for KIF7 Gene:
KIF7 (kinesin family member 7) is a protein-coding gene. Diseases associated with KIF7 include hydrolethalus syndrome 2, and joubert syndrome 12. GO annotations related to this gene include microtubule binding and microtubule motor activity. An important paralog of this gene is KIF4A.

UniProtKB/Swiss-Prot: KIF7_HUMAN, Q2M1P5
Function: Acts as both a negative and positive regulator of sonic hedgehog (Shh) pathway, acting downstream of
SMO. Negatively regulates the pathway by preventing inappropriate activation of the transcriptional activator
GLI2 in the absence of ligand. Positively regulates the pathway by preventing the processing of the transcription
factor GLI3 into its repressor form. Required for efficient localization of GLI3 to cilia in response to Shh.
Affects microtubular dynamics and acts as a ciliary motor




(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 at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the KIF7 gene promoter:
         ER-alpha   Pax-5   Lmo2   CUTL1   AP-4   LCR-F1   Nkx5-1   C/EBPalpha   Ik-2   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKIF7 promoter sequence
   Search Chromatin IP Primers for KIF7

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIF7


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

Entrez Gene cytogenetic band: 15q26.1   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q26.1

KIF7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIF7 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M090171:  view genomic region     (about GC identifiers)

Start:
90,152,020 bp from pter      End:
90,198,682 bp from pter
Size:
46,663 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: KIF7_HUMAN, Q2M1P5 (See protein sequence)
Recommended Name: Kinesin-like protein KIF7  
Size: 1343 amino acids; 150587 Da
Subunit: Interacts with GLI1, GLI2, GLI3, SMO and SUFU. Interacts with NPHP1
Sequence caution: Sequence=AAI04045.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAI12272.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI12274.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAQ88750.1; Type=Erroneous
initiation; Note=Translation N-terminally extended;
2 PDB 3D structures from and Proteopedia for KIF7:
2XT3 (3D)        4A14 (3D)    
Secondary accessions: Q3SXY0 Q6UXE9 Q8IW72

Explore the universe of human proteins at neXtProt for KIF7: NX_Q2M1P5

Explore proteomics data for KIF7 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1208, Lys1278
  • Modification sites at PhosphoSitePlus

  • See KIF7 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_940927.2  
    ENSEMBL proteins: 
     ENSP00000377934   ENSP00000395906  

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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:
    KIF: Kinesins

    4 InterPro protein domains:
     IPR027417 P-loop_NTPase
     IPR001752 Kinesin_motor_dom
     IPR019821 Kinesin_motor_CS
     IPR027640 Kinesin-like_fam

    Graphical View of Domain Structure for InterPro Entry Q2M1P5

    ProtoNet protein and cluster: Q2M1P5

    UniProtKB/Swiss-Prot: KIF7_HUMAN, Q2M1P5
    Similarity: Belongs to the kinesin-like protein family. KIF27 subfamily
    Similarity: Contains 1 kinesin-motor domain


    Find genes that share domains with KIF7           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KIF7_HUMAN, Q2M1P5
    Function: Acts as both a negative and positive regulator of sonic hedgehog (Shh) pathway, acting downstream of
    SMO. Negatively regulates the pathway by preventing inappropriate activation of the transcriptional activator
    GLI2 in the absence of ligand. Positively regulates the pathway by preventing the processing of the transcription
    factor GLI3 into its repressor form. Required for efficient localization of GLI3 to cilia in response to Shh.
    Affects microtubular dynamics and acts as a ciliary motor

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003777microtubule motor activity IDA--
    GO:0005515protein binding IPI19592253
    GO:0005524ATP binding IEA--
    GO:0008017microtubule binding IEA--
         
    Find genes that share ontologies with KIF7           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for KIF7:
     Decreased NANOG protein expres  Decreased OCT4 protein express  Decreased POU5F1-GFP protein e 

         15 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Kif7):
     cardiovascular system  cellular  craniofacial  digestive/alimentary  embryogenesis 
     homeostasis/metabolism  limbs/digits/tail  mortality/aging  muscle  nervous system 
     no phenotypic analysis  reproductive system  respiratory system  skeleton  vision/eye 

    Find genes that share phenotypes with KIF7           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Kif7tm1.2Hui for KIF7

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIF7
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    miRNA
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    hsa-mir-124-3p (MIRT023103), hsa-mir-342-5p (MIRT038214)

    Block miRNA regulation of human, mouse, rat KIF7 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate KIF7:
    hsa-miR-214 hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidKIF7 3' UTR sequence
    Inhib. RNA
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    (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
    KIF7_HUMAN, Q2M1P5: Cell projection, cilium. Note=SMO is required for its accumulation within cilia. Moves from
    the cilia base to the cilia tip in response to activation of the Shh pathway
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    cytoskeleton2
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005871kinesin complex IEA--
    GO:0005874microtubule ----
    GO:0005929cilium IDA19592253

    Find genes that share ontologies with KIF7           About GenesLikeMe


    (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 KIF7
    Interactions:

        Search GeneGlobe Interaction Network for KIF7

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for KIF7 (Q2M1P52, 3 ENSP000003779344) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USP22Q9UPT93, ENSP000002614974I2D: score=2 STRING: ENSP00000261497
    SMOQ998353, ENSP000002493734I2D: score=2 STRING: ENSP00000249373
    GLI2P100703I2D: score=3 
    POLA1P098843I2D: score=3 
    PRKXP518173I2D: score=3 
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007018microtubule-based movement IEA--
    GO:0008152metabolic process IDA--
    GO:0045879negative regulation of smoothened signaling pathway ISS--
    GO:0045880positive regulation of smoothened signaling pathway ISS--

    Find genes that share ontologies with KIF7           About GenesLikeMe



    (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 KIF7



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KIF7 gene: 
    NM_198525.2  

    Unigene Cluster for KIF7:

    Kinesin family member 7
    Hs.513134  [show with all ESTs]
    Unigene Representative Sequence: NM_198525
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000558928 ENST00000394412(uc010upw.1 uc002bof.2 uc002bog.2)
    ENST00000445906
    miRNA
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    hsa-miR-214 hsa-miR-761
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    Inhib. RNA
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    Additional mRNA sequence: 

    AY358384.1 BC040878.1 BC042063.1 BC104044.1 BC112271.1 BC112273.1 BC143461.1 

    3 DOTS entries:

    DT.105136  DT.97814905  DT.100742327 

    Selected AceView cDNA sequences (see all 53):

    AI366107 CB265347 BF515033 AW451733 BQ683811 AI469074 BQ896998 AY358384 
    BM664985 BM853717 NM_198525 AI373244 BX330907 BM744569 BC040878 BQ576036 
    BM743137 BG770428 BM547456 AW269762 BF982652 BG763962 AI460357 BU157851 

    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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    KIF7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGCTGTGGT
    KIF7 Expression
    About this image

    KIF7 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KIF7 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.513134

    UniProtKB/Swiss-Prot: KIF7_HUMAN, Q2M1P5
    Tissue specificity: Embryonic stem cells, melanotic melanoma and Jurkat T-cells. Expressed in heart, lung, liver,
    kidney, testis, retina, placenta, pancreas, colon, small intestin, prostate and thymus

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    (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 and fungi.

    Orthologs for KIF7 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kif71 , 5 kinesin family member 71, 5 85.25(n)1
    89.16(a)1
      7 (45.09 cM)5
    165761  NM_010626.21  NP_034756.21 
     796980985 
    chicken
    (Gallus gallus)
    Aves KIF71 kinesin family member 7 72.69(n)
    70.58(a)
      415488  XM_004943840.1  XP_004943897.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIF76
    kinesin family member 7
    63(a)
    1 ↔ 1
    GL343444.1(680749-714576)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.36802 Transcribed sequence with weak similarity to protein more 75.29(n)    AL879988.2 
    zebrafish
    (Danio rerio)
    Actinopterygii kif71 kinesin family member 7 62.39(n)
    61.7(a)
      544651  NM_001014816.1  NP_001014816.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CIN86
    Kinesin motor protein involved in mitotic spindle ...
    18(a)
    1 → many
    V(36535-39537) YEL061C


    ENSEMBL Gene Tree for KIF7 (if available)
    TreeFam Gene Tree for KIF7 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIF7 gene
    KIF4A2  KIF3A2  KIF5B2  KIF5C2  KIF21A2  KIF112  KIF3B2  KIF21B2  
    KIF172  KIF152  CENPE2  KIF5A2  KIF4B2  KIF272  KIF3C2  
    5 SIMAP similar genes for KIF7 using alignment to 3 protein entries:     KIF7_HUMAN (see all proteins):
    KIF21A    KIF27    KIF3A    KIF5C    KIF3C

    Find genes that share paralogs with KIF7           About GenesLikeMe



    (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 KIF7 (see all 799)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1420324131,2,,4
    C,FHydrolethalus syndrome 2 (HLS2)4 --69897607(+) TGCTGG/CTGCTG 2 /H /Q mis12Minor allele frequency- C:0.01NA EU 5847
    rs1384109491,2,,4
    C,FBardet-Biedl syndrome (BBS)4 --69899687(+) TGCCCT/CGCCGC 2 /Q /R mis11Minor allele frequency- C:0.00NA 2592
    rs1158577531,2,,4
    C,FPallister-Hall syndrome (PHS)4 --69913989(+) TGGGCG/AGCTCC 2 /P /L mis12Minor allele frequency- A:0.01WA NA 4656
    VAR_0664514
    Bardet-Biedl syndrome (BBS)4--see VAR_0664512 R G mis40--------
    VAR_0664564
    Bardet-Biedl syndrome (BBS)4--see VAR_0664562 R W mis40--------
    VAR_0664524
    Acrocallosal syndrome (ACLS)4--see VAR_0664522 R Q mis40--------
    rs666066401,2
    C--66286739(+) AGACG-/AGGGCAC 1 -- int10--------
    rs1876286381,2
    --69895526(+) CTGCTA/GCGACA 1 -- ds50010--------
    rs1480520731,2
    C--69895539(+) GGCAGC/TGCTTT 1 -- ds50010--------
    rs1904497741,2
    --69895540(+) GCAGCA/GCTTTG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for KIF7 (90152020 - 90198682 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for KIF7:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv34025CNV Loss18971310
    nsv904482CNV Loss21882294
    nsv521260CNV Loss19592680
    nsv904481CNV Loss21882294
    nsv1659CNV Loss18451855

    Human Gene Mutation Database (HGMD): KIF7
    Site Specific Mutation Identification with PCR Assays
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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: 611254   
    OMIM disorders: 614120  200990  
    UniProtKB/Swiss-Prot: KIF7_HUMAN, Q2M1P5
  • Note=Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. The
    ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and
    hydrolethalus syndrome among others. Single-locus allelism is insufficient to explain the variable penetrance and
    expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary
    proteome influence the clinical outcome. Primary ciliopathy loci can be modulated by pathogenic lesions in other
    ciliary genes to either exacerbate overall severity or induce specific endophenotypes. KIF7 may be causally
    associated with diverse ciliopathies, and also acts as a modifier gene across the ciliopathy spectrum
  • Bardet-Biedl syndrome (BBS) [MIM:209900]: A syndrome characterized by usually severe pigmentary
    retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation.
    Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome
    inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus)
    may be required for clinical manifestation of some forms of the disease. Note=The gene represented in this entry
    may act as a disease modifier. Heterozygous missense mutations in KIF7 may genetically interact with other BBS
    genes and contribute to disease manifestation and severity
  • Hydrolethalus syndrome 2 (HLS2) [MIM:614120]: An embryonic lethal disorder characterized by hydrocephaly
    or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs.
    Duplication of the hallux is a common finding. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Acrocallosal syndrome (ACLS) [MIM:200990]: A syndrome characterized by hypogenesis or agenesis of the
    corpus callosum. Clinical features include postaxial polydactyly, hallux duplication, macrocephaly, craniofacial
    abnormalities, severe developmental delay and mental retardation. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Joubert syndrome 12 (JBTS12) [MIM:200990]: A disorder presenting with cerebellar ataxia, oculomotor
    apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is
    characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles,
    and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar
    tooth sign). Additional variable features include retinal dystrophy and renal disease. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • Pallister-Hall syndrome (PHS) [MIM:146510]: An autosomal dominant disorder characterized by a wide range
    of clinical manifestations. Clinical features include hypothalamic hamartoma, pituitary dysfunction, central or
    postaxial polydactyly, and syndactyly. Malformations are frequent in the viscera, e.g. anal atresia, bifid uvula,
    congenital heart malformations, pulmonary or renal dysplasia. Note=The gene represented in this entry may be
    involved in disease pathogenesis

  • Selected diseases for KIF7 (see all 31):    
    About MalaCards
    hydrolethalus syndrome 2    joubert syndrome 12    kif7-related joubert syndrome    multiple epiphyseal dysplasia, al-gazali type
    hydrolethalus syndrome    staphyloenterotoxemia    pallister-hall syndrome    acrocallosal syndrome
    joubert syndrome 22    joubert syndrome and related disorders    multiple epiphyseal dysplasia    bardet-biedl syndrome 2
    bardet-biedl syndrome 10    bardet-biedl syndrome 5    bardet-biedl syndrome 4    bardet-biedl syndrome 1, modifier of
    bardet-biedl syndrome 9    bardet-biedl syndrome 15    bardet-biedl syndrome 12    bardet-biedl syndrome 3

    1 disease from the University of Copenhagen DISEASES database for KIF7:
    Acrocallosal syndrome

    Find genes that share disorders with KIF7           About GenesLikeMe


    Export disorders for KIF7 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 KIF7 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with KIF7)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of KIF7 gene in silico. (PubMed id 15547730)1, 2, 3 Katoh Y. and Katoh M. (Int. J. Oncol. 2004)
    2. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. (PubMed id 21633164)1, 2 Dafinger C.... Bolz H.J. (J. Clin. Invest. 2011)
    3. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. (PubMed id 21552264)1, 2 Putoux A.... Attie-Bitach T. (Nat. Genet. 2011)
    4. The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development. (PubMed id 19592253)1, 2 Endoh-Yamagami S....Peterson A.S. (Curr. Biol. 2009)
    5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    6. All kinesin superfamily protein, KIF, genes in mouse and human. (PubMed id 11416179)1, 3 Miki H....Hirokawa N. (Proc. Natl. Acad. Sci. U.S.A. 2001)
    7. Protein interaction network of the mammalian Hippo pathway reveals mechanisms of kinase-phosphatase interactions. (PubMed id 24255178)1 Couzens A.L....Gingras A.C. (Sci Signal 2013)
    8. Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance. (PubMed id 23142271)1 Walsh D.M....Maher E.R. (Eur J Med Genet 2013)
    9. Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome. (PubMed id 23125460)1 Putoux A....AttiAc-Bitach T. (J. Med. Genet. 2012)
    10. Structural insights into human Kif7, a kinesin involved in Hedgehog signalling. (PubMed id 22281744)1 Klejnot M. and Kozielski F. (Acta Crystallogr. D Biol. Crystallogr. 2012)

    (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: 374654 HGNC: 30497 AceView: LOC374654 Ensembl:ENSG00000166813 euGenes: HUgn374654
    ECgene: KIF7 H-InvDB: KIF7

    (According to HUGE)
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      --

    (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 KIF7 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 KIF7 gene:
    Search GeneIP for patents involving KIF7

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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