KIF7 (kinesin family member 7)

2014-11-01  

Identity

HGNC
KIF7
LOCATION
15q26.1
LOCUSID
374654
ALIAS
ACLS,AGBK,HLS2,JBTS12,UNQ340
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 374654
MIM: 611254
HGNC: 30497
Ensembl: ENSG00000166813

Variants:

dbSNP: 374654
ClinVar: 374654
TCGA: ENSG00000166813
COSMIC: KIF7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166813ENST00000394412Q2M1P5
ENSG00000166813ENST00000445906F8WD21

Expression (GTEx)

0
5
10
15
20
25
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
Hedgehog signaling pathwayKEGGko04340
Hedgehog signaling pathwayKEGGhsa04340
Hedgehog signalingKEGGhsa_M00678
Hedgehog signalingKEGGM00678
Signal TransductionREACTOMER-HSA-162582
Signaling by HedgehogREACTOMER-HSA-5358351
Hedgehog 'off' stateREACTOMER-HSA-5610787
Hedgehog 'on' stateREACTOMER-HSA-5632684

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
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
333825182021Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.16
341140332021Sequences in the stalk domain regulate auto-inhibition and ciliary tip localization of the immotile kinesin-4 KIF7.5
333825182021Mutations in KIF7 implicated in idiopathic scoliosis in humans and axial curvatures in zebrafish.16
341140332021Sequences in the stalk domain regulate auto-inhibition and ciliary tip localization of the immotile kinesin-4 KIF7.5
321645892020Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.8
327383032020Identification of novel candidate genes in heterotaxy syndrome patients with congenital heart diseases by whole exome sequencing.15
329451332020Human papillomavirus 16 (HPV 16) E6 but not E7 inhibits the antitumor activity of LKB1 in lung cancer cells by downregulating the expression of KIF7.5
321645892020Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review.8
327383032020Identification of novel candidate genes in heterotaxy syndrome patients with congenital heart diseases by whole exome sequencing.15
329451332020Human papillomavirus 16 (HPV 16) E6 but not E7 inhibits the antitumor activity of LKB1 in lung cancer cells by downregulating the expression of KIF7.5
316580442019Low expression of KIF7 indicates poor prognosis in epithelial ovarian cancer.7
316580442019Low expression of KIF7 indicates poor prognosis in epithelial ovarian cancer.7
257145602015A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.4
261745112015Novel KIF7 missense substitutions in two patients presenting with multiple malformations and features of acrocallosal syndrome.10
257145602015A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.4

Citation

Dessen P

KIF7 (kinesin family member 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64929/meetings/js/web-card-gene.js