KIF21A (kinesin family member 21A)

2014-11-01  

Identity

HGNC
KIF21A
LOCATION
12q12
LOCUSID
55605
ALIAS
CFEOM1,FEOM1,FEOM3A
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139116ENST00000361418Q7Z4S6
ENSG00000139116ENST00000361961Q7Z4S6
ENSG00000139116ENST00000541463Q7Z4S6
ENSG00000139116ENST00000544797Q7Z4S6
ENSG00000139116ENST00000547108H0YIM6
ENSG00000139116ENST00000551066H0YHG9
ENSG00000139116ENST00000551264H0YI78
ENSG00000139116ENST00000552908H0YIM7
ENSG00000139116ENST00000552961H0YHT2
ENSG00000139116ENST00000636569A0A1B0GV47

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379215372024Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.1
379215372024Phenotypic heterogeneity associated with KIF21A: Two new cases and review of the literature.1
347409192023Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.17
347409192023Bi-allelic loss-of-function variants in KIF21A cause severe fetal akinesia with arthrogryposis multiplex.17
346989692022KIF21A regulates breast cancer aggressiveness and is prognostic of patient survival and tumor recurrence.0
352800302022[Identification of a novel KIF21A gene mutation in a Chinese family with congenital fibrosis of the extraocular muscles].1
346989692022KIF21A regulates breast cancer aggressiveness and is prognostic of patient survival and tumor recurrence.0
352800302022[Identification of a novel KIF21A gene mutation in a Chinese family with congenital fibrosis of the extraocular muscles].1
332519262021KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.4
342743172021Nephrotic-syndrome-associated mutation of KANK2 induces pathologic binding competition with physiological interactor KIF21A.2
332519262021KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.4
342743172021Nephrotic-syndrome-associated mutation of KANK2 induces pathologic binding competition with physiological interactor KIF21A.2
314899862019Prognostic value of Kinesin-4 family genes mRNA expression in early-stage pancreatic ductal adenocarcinoma patients after pancreaticoduodenectomy.3
315417102019Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles.3
314899862019Prognostic value of Kinesin-4 family genes mRNA expression in early-stage pancreatic ductal adenocarcinoma patients after pancreaticoduodenectomy.3

Citation

Dessen P

KIF21A (kinesin family member 21A)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64919/kif21a-(kinesin-family-member-21a)