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    KIF12 kinesin family member 12 [ Homo sapiens (human) ]

    Gene ID: 113220, updated on 27-Nov-2024

    Summary

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    Official Symbol
    KIF12provided by HGNC
    Official Full Name
    kinesin family member 12provided by HGNC
    Primary source
    HGNC:HGNC:21495
    See related
    Ensembl:ENSG00000136883 MIM:611278; AllianceGenome:HGNC:21495
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PFIC8
    Summary
    This gene encodes a member of the kinesin superfamily of microtubule-associated molecular motors with functions related to the microtubule cytosekelton. Members of this superfamily play important roles in intracellular transport and cell division. A similar protein in mouse functions in the beta cell antioxidant signaling cascade, acting as a scaffold for the transcription factor specificity protein 1 (Sp1). Mice that lack this gene exhibit beta cell oxidative stress resulting in hypoinsulinemic glucose intolerance. [provided by RefSeq, Jul 2016]
    Expression
    Biased expression in kidney (RPKM 28.1), gall bladder (RPKM 9.6) and 9 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See KIF12 in Genome Data Viewer
    Location:
    9q32
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (114091638..114099292, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (126290301..126297955, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (116853918..116861572, complement)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107987120 Neighboring gene alpha-1-microglobulin/bikunin precursor Neighboring gene uncharacterized LOC124902251 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116861361-116861896 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116875188-116875688 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116875689-116876189 Neighboring gene Sharpr-MPRA regulatory region 2704 Neighboring gene uncharacterized LOC105376225 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116915624-116916145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20209 Neighboring gene Sharpr-MPRA regulatory region 14358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:116925428-116925944 Neighboring gene collagen type XXVII alpha 1 chain Neighboring gene microRNA 455

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Characterization of KIF12 gene in silico. Katoh M, et al. Oncol Rep, 2005 Feb. PMID 15643526
    2. Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes. Waheed N, et al. Clin Genet, 2024 Jan. PMID 37866826
    3. KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease. Stalke A, et al. J Pediatr, 2022 Jan. PMID 34555379
    4. Spatio-Temporal Expression Pattern of CAKUT Candidate Genes DLG1 and KIF12 during Human Kidney Development. Veljačić Visković D, et al. Biomolecules, 2023 Feb 9. PMID 36830709, Free PMC Article
    5. Genome-wide association study of Tourette's syndrome. Scharf JM, et al. Mol Psychiatry, 2013 Jun. PMID 22889924, Free PMC Article

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes.
      Title: Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes.
    2. Spatio-Temporal Expression Pattern of CAKUT Candidate Genes DLG1 and KIF12 during Human Kidney Development.
      Title: Spatio-Temporal Expression Pattern of CAKUT Candidate Genes DLG1 and KIF12 during Human Kidney Development.
    3. KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease.
      Title: KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: New genetic associations detected in a host response study to hepatitis B vaccine.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of Tourette's syndrome.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in extracellular exosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of kinesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in microtubule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    kinesin-like protein KIF12

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051222.1 RefSeqGene

      Range
      5793..13447
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001388308.1 → NP_001375237.1  kinesin-like protein KIF12 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL137850
      Consensus CDS
      CCDS94465.1
      UniProtKB/Swiss-Prot
      Q5TBE0, Q96FN5
      UniProtKB/TrEMBL
      A0A1W2PPS5
      Related
      ENSP00000491702.1, ENST00000640217.2
      Conserved Domains (2) summary
      COG4372
      Location:362 → 468
      COG4372; Uncharacterized conserved protein, contains DUF3084 domain [Function unknown]
      cd00106
      Location:25 → 363
      KISc; Kinesin motor domain

    2. NM_138424.2 → NP_612433.1  kinesin-like protein KIF12 isoform 1

      See identical proteins and their annotated locations for NP_612433.1

      Status: REVIEWED

      Source sequence(s)
      AL137850, BC010626
      UniProtKB/Swiss-Prot
      Q96FN5
      UniProtKB/TrEMBL
      B1ALC3
      Related
      ENST00000640553.1
      Conserved Domains (2) summary
      cd00106
      Location:1 → 225
      KISc; Kinesin motor domain
      cl26472
      Location:224 → 330
      DUF3084; Protein of unknown function (DUF3084)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

      Range
      114091638..114099292 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005251683.6 → XP_005251740.1  kinesin-like protein KIF12 isoform X3

      UniProtKB/Swiss-Prot
      Q5TBE0, Q96FN5
      Conserved Domains (3) summary
      cd00106
      Location:25 → 363
      KISc; Kinesin motor domain
      pfam00225
      Location:31 → 365
      Kinesin; Kinesin motor domain
      pfam12711
      Location:383 → 469
      Kinesin-relat_1; Kinesin motor

    2. XM_047422710.1 → XP_047278666.1  kinesin-like protein KIF12 isoform X2

    3. XM_047422709.1 → XP_047278665.1  kinesin-like protein KIF12 isoform X1

    4. XM_006716947.3 → XP_006717010.1  kinesin-like protein KIF12 isoform X4

      UniProtKB/Swiss-Prot
      Q5TBE0, Q96FN5
      Conserved Domains (3) summary
      cd00106
      Location:8 → 329
      KISc; Kinesin motor domain
      pfam00225
      Location:1 → 331
      Kinesin; Kinesin motor domain
      pfam12711
      Location:349 → 435
      Kinesin-relat_1; Kinesin motor

    5. XM_047422711.1 → XP_047278667.1  kinesin-like protein KIF12 isoform X6

    6. XM_024447406.2 → XP_024303174.1  kinesin-like protein KIF12 isoform X5

      Conserved Domains (2) summary
      cd00106
      Location:1 → 225
      KISc; Kinesin motor domain
      cl26472
      Location:224 → 330
      DUF3084; Protein of unknown function (DUF3084)

    RNA

    1. XR_007061239.1 RNA Sequence

    2. XR_007061240.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      126290301..126297955 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361886.1 → XP_054217861.1  kinesin-like protein KIF12 isoform X3

    2. XM_054361885.1 → XP_054217860.1  kinesin-like protein KIF12 isoform X2

    3. XM_054361884.1 → XP_054217859.1  kinesin-like protein KIF12 isoform X1

    4. XM_054361887.1 → XP_054217862.1  kinesin-like protein KIF12 isoform X4

    5. XM_054361889.1 → XP_054217864.1  kinesin-like protein KIF12 isoform X6

    6. XM_054361888.1 → XP_054217863.1  kinesin-like protein KIF12 isoform X5

    RNA

    1. XR_008487933.1 RNA Sequence

    2. XR_008487934.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96FN5.3 GenPept UniProtKB/Swiss-Prot:Q96FN5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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