KIF21A (kinesin family member 21A)

2014-11-01 Affiliation

Identity

HGNC

KIF21A

LOCATION

12q12

LOCUSID

55605

ALIAS

CFEOM1,FEOM1,FEOM3A

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 55605
MIM: 608283
HGNC: 19349
Ensembl: ENSG00000139116

Variants:

dbSNP: 55605
ClinVar: 55605
TCGA: ENSG00000139116
COSMIC: KIF21A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000139116	ENST00000361418	Q7Z4S6
ENSG00000139116	ENST00000361961	Q7Z4S6
ENSG00000139116	ENST00000541463	Q7Z4S6
ENSG00000139116	ENST00000544797	Q7Z4S6
ENSG00000139116	ENST00000547108	H0YIM6
ENSG00000139116	ENST00000551066	H0YHG9
ENSG00000139116	ENST00000551264	H0YI78
ENSG00000139116	ENST00000552908	H0YIM7
ENSG00000139116	ENST00000552961	H0YHT2
ENSG00000139116	ENST00000636569	A0A1B0GV47

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Hemostasis	REACTOME	R-HSA-109582
Factors involved in megakaryocyte development and platelet production	REACTOME	R-HSA-983231
Kinesins	REACTOME	R-HSA-983189
Vesicle-mediated transport	REACTOME	R-HSA-5653656
Membrane Trafficking	REACTOME	R-HSA-199991
Intra-Golgi and retrograde Golgi-to-ER traffic	REACTOME	R-HSA-6811442
Golgi-to-ER retrograde transport	REACTOME	R-HSA-8856688
COPI-dependent Golgi-to-ER retrograde traffic	REACTOME	R-HSA-6811434

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
14595441	2003	Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).	66
19165527	2009	Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.	56
24120883	2013	CFEOM1-associated kinesin KIF21A is a cortical microtubule growth inhibitor.	51
15671279	2005	Magnetic resonance imaging evidence for widespread orbital dysinnervation in congenital fibrosis of extraocular muscles due to mutations in KIF21A.	47
24656932	2014	Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.	37
15223798	2004	Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).	19
17511870	2007	Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.	18
18332320	2008	Novel and recurrent KIF21A mutations in congenital fibrosis of the extraocular muscles type 1 and 3.	15
19020088	2008	Interaction of brefeldin A-inhibited guanine nucleotide-exchange protein (BIG) 1 and kinesin motor protein KIF21A.	15
16157808	2005	A novel KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Marcus Gunn jaw-winking phenomenon.	12

Citation

Dessen P

KIF21A (kinesin family member 21A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64919/kif21a