KPTN (kaptin, actin binding protein)

2014-11-01  

Identity

HGNC
KPTN
LOCATION
19q13.32
LOCUSID
11133
ALIAS
2E4,KICS4,MRT41
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11133
MIM: 615620
HGNC: 6404
Ensembl: ENSG00000118162

Variants:

dbSNP: 11133
ClinVar: 11133
TCGA: ENSG00000118162
COSMIC: KPTN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000118162ENST00000338134Q9Y664
ENSG00000118162ENST00000338134A0A384NLB4
ENSG00000118162ENST00000594208M0QZ83
ENSG00000118162ENST00000595554M0QXX4
ENSG00000118162ENST00000600271M0R238

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

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
373116482023Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.0
373116482023Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairment.0
323580972020Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.3
328084302020Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.3
323580972020Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.3
328084302020Pathogenic variants in KPTN, a rare cause of macrocephaly and intellectual disability.3
281993062017KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1.159
281993062017KICSTOR recruits GATOR1 to the lysosome and is necessary for nutrients to regulate mTORC1.159
242393822014Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.23
242393822014Mutations in KPTN cause macrocephaly, neurodevelopmental delay, and seizures.23

Citation

Dessen P

KPTN (kaptin, actin binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64997