KIF12 (kinesin family member 12)

2014-11-01  

Identity

HGNC
LOCATION
9q32
LOCUSID
ALIAS
-

Other Information

Locus ID:

NCBI: 113220
MIM: 611278
HGNC: 21495
Ensembl: ENSG00000136883

Variants:

dbSNP: 113220
ClinVar: 113220
TCGA: ENSG00000136883
COSMIC: KIF12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136883ENST00000374118B1ALC3
ENSG00000136883ENST00000468460Q96FN5
ENSG00000136883ENST00000473174A0A1W2PP63
ENSG00000136883ENST00000498016A0A1W2PNV5
ENSG00000136883ENST00000640217A0A1W2PPS5
ENSG00000136883ENST00000643988A0A2R8Y6R2

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
HemostasisREACTOMER-HSA-109582
Factors involved in megakaryocyte development and platelet productionREACTOMER-HSA-983231
KinesinsREACTOMER-HSA-983189
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER trafficREACTOMER-HSA-6811442
Golgi-to-ER retrograde transportREACTOMER-HSA-8856688
COPI-dependent Golgi-to-ER retrograde trafficREACTOMER-HSA-6811434

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
378668262024Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes.0
378668262024Clinical exome sequencing reveals a novel pathogenic variant in KIF12 underlying cholestasis with highly variable phenotypes.0
368307092023Spatio-Temporal Expression Pattern of CAKUT Candidate Genes DLG1 and KIF12 during Human Kidney Development.3
368307092023Spatio-Temporal Expression Pattern of CAKUT Candidate Genes DLG1 and KIF12 during Human Kidney Development.3
345553792022KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease.10
345553792022KIF12 Variants and Disturbed Hepatocyte Polarity in Children with a Phenotypic Spectrum of Cholestatic Liver Disease.10
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37

Citation

Dessen P

KIF12 (kinesin family member 12)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64910/kif12-(kinesin-family-member-12)