KCTD19 (potassium channel tetramerization domain containing 19)

2014-11-01  

Identity

HGNC
KCTD19
LOCATION
16q22.1
LOCUSID
146212
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 146212
HGNC: 24753
Ensembl: ENSG00000168676

Variants:

dbSNP: 146212
ClinVar: 146212
TCGA: ENSG00000168676
COSMIC: KCTD19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168676ENST00000304372Q17RG1
ENSG00000168676ENST00000562721J3KRQ9
ENSG00000168676ENST00000562841J3QKV2
ENSG00000168676ENST00000566295J3KSZ9
ENSG00000168676ENST00000567976H3BVC0

Expression (GTEx)

0
50
100
150
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
N/A

References

Pubmed IDYearTitleCitations
371928182023Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia.2
372576432023Homozygous nonsense variants of KCTD19 cause male infertility in humans and mice.1
371928182023Biallelic variants in KCTD19 associated with male factor infertility and oligoasthenoteratozoospermia.2
372576432023Homozygous nonsense variants of KCTD19 cause male infertility in humans and mice.1

Citation

Dessen P

KCTD19 (potassium channel tetramerization domain containing 19)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64824/gene-explorer/gene-fusions/?id=64824