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

Gene ID: 113220, updated on 3-Apr-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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Location:
9q32
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (114091638..114099292, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (126290301..126297955, complement)
105.20220307 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. 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
  2. Characterization of KIF12 gene in silico. Katoh M, et al. Oncol Rep, 2005 Feb. PMID 15643526
  3. 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
  4. Genome-wide association study of Tourette's syndrome. Scharf JM, et al. Mol Psychiatry, 2013 Jun. PMID 22889924, Free PMC Article
  5. Pediatric Genetic Cholestatic Liver Disease Overview. Adam MP, et al. , 1993. PMID 36108118

See all (18) 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)

Genotypes

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
  
enables molecular_function ND
No biological Data available
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
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_2023_10

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

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