KCTD19 (potassium channel tetramerization domain containing 19)

2014-11-01  

Identity

HGNC
LOCATION
16q22.1
LOCUSID
ALIAS
-
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

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/js/lib/deep-insight-explorer/