KCTD19 (potassium channel tetramerization domain containing 19)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
146212
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium channel tetramerization domain containing 19
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCTD19
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q22.1
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs869312866 G>T Likely-pathogenic Missense variant, coding sequence variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(10)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus ISS
GO:0007140 Process Male meiotic nuclear division IEA
GO:0007140 Process Male meiotic nuclear division ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619943 24753 ENSG00000168676
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Q17RG1
Protein name BTB/POZ domain-containing protein KCTD19 (Potassium channel tetramerization domain-containing protein 19)
Protein function Transcription regulator which is essential for male fertility and for the completion of meiotic prophase in spermatocytes. Regulates progression of the pachytene stage of meiotic prophase and promotes the transcriptional activation activity ZNF5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02214 BTB_2 15 → 95 BTB/POZ domain Domain
Sequence 
MEESGMAHESAEDLFHFNVGGWHFSVPRSKLSQFPDSLLWKEASALTSSESQRLFIDRDG
STFRHVHYYLYTSKLSFSSCAELNLLYEQALGLQLMPLLQTLDNLKEGKHHLRVRPADLP
VAERASLNYWRTWKCISKPSEFPIKSPAFTGLHDKAPLGLMDTPLLDTEEEVHYCFLPLD
LVAKYPSLVTEDNLLWLAETVALIECECSEFRFIVNFLRSQKILLPDNFSNIDVLEAEVE
ILEIPALTEAVRWYRMNMGGCSPTTCSPLSPGKGARTASLESVKPLYTMALGLLVKYPDS
ALGQLRIESTLDGSRLYITGNGVLFQHVKNWLGTCRLPLTETISEVYELCAFLDKRDITY
EPIKVALKTHLEPRTLAPMDVLNEWTAEITVYSPQQIIKVYVGSHWYATTLQTLLKYPEL
LSNPQRVYWITYGQTLLIHGDGQMFRHILNFLRLGKLFLPSEFKEWPLFCQEVEEYHIPS
LSEALAQCEAYKSWTQEKESENEEAFSIRRLHVVTEGPGSLVEFSRDTKETTAYMPVDFE
DCSDRTPWNKAKGNLVRSNQMDEAEQYTRPIQVSLCRNAKRAGNPSTYSHCRGLCTNPGH
WGSHPESPPKKKCTTINLTQKSETKDPPATPMQKLISLVREWDMVNCKQWEFQPLTATRS
SPLEEATLQLPLGSEAASQPSTSAAWKAHSTASEKDPGPQAGAGAGAKDKGPEPTFKPYL
PPKRAGTLKDWSKQRTKERESPAPEQPLPEASEVDSLGVILKVTHPPVVGSDGFCMFFED
SIIYTTEMDNLRHTTPTASPQPQEVTFLSFSLSWEEMFYAQKCHCFLADIIMDSIRQKDP
KAITAKVVSLANRLWTLHISPKQFVVDLLAITGFKDDRHTQERLYSWVELTLPFARKYGR
CMDLLIQRGLSRSVSYSILGKYLQED
Sequence length 926
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypothyroidism Hypothyroidism N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (1)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Vision Disorders Associate 26350515