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
216331642011Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.66
254929662014The PPFIA1-PP2A protein complex promotes trafficking of Kif7 to the ciliary tip and Hedgehog signaling.17
215522642011KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.0
222817442012Structural insights into human Kif7, a kinesin involved in Hedgehog signalling.0
225876822012A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.0
231254602012Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.0
231422712013Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.0
244624442014ExoS of Pseudomonas aeruginosa binds to a human KIF7 to induce cytotoxicity in cultured human bronchial epithelial cells.0
252652792014Downregulation of the gli transcription factors regulator Kif7 facilitates cell survival and migration of choriocarcinoma cells.0
257145602015A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.0

Citation

Dessen P

KIF7 (kinesin family member 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64929/kif7