KCTD13 (potassium channel tetramerization domain containing 13)

2018-02-01  

Identity

HGNC
KCTD13
LOCATION
16p11.2
LOCUSID
253980
ALIAS
BACURD1,FKSG86,PDIP1,POLDIP1,hBACURD1

Other Information

Locus ID:

NCBI: 253980
MIM: 608947
HGNC: 22234
Ensembl: ENSG00000174943

Variants:

dbSNP: 253980
ClinVar: 253980
TCGA: ENSG00000174943
COSMIC: KCTD13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174943ENST00000308768Q8WZ19
ENSG00000174943ENST00000561540I3L108
ENSG00000174943ENST00000566413I3L3K4
ENSG00000174943ENST00000566842I3L1U2
ENSG00000174943ENST00000567795A0A3B3IS45
ENSG00000174943ENST00000568000Q8WZ19
ENSG00000174943ENST00000568995H3BM90
ENSG00000174943ENST00000648037A0A3B3IS35
ENSG00000174943ENST00000649581A0A3B3IS35

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
162393042006Isolation and characterization of a transcriptional cofactor and its novel isoform that bind the deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma.14
225961602012KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.0
276684122016Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2.0
305189452019The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability.0

Citation

Dessen P

KCTD13 (potassium channel tetramerization domain containing 13)

Atlas Genet Cytogenet Oncol Haematol. 2018-02-01

Online version: http://atlasgeneticsoncology.org/gene/57330/kctd13