Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51133
Gene name Gene Name - the full gene name approved by the HGNC.
Potassium channel tetramerization domain containing 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KCTD3
Synonyms (NCBI Gene) Gene synonyms aliases
NY-REN-45
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q41
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the potassium channel tetramerization-domain containing (KCTD) protein family. Members of this protein family regulate the biophysical characteristics of ion channels. In mouse, this protein interacts with hyperpolarization-a
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs730882243 CCCTTGCGAATGAAAGATAATGATCTTCTTGTAACTGA>- Likely-pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025044 hsa-miR-181a-5p Microarray 17612493
MIRT047831 hsa-miR-30c-5p CLASH 23622248
MIRT133557 hsa-miR-155-5p HITS-CLIP 22473208
MIRT133557 hsa-miR-155-5p HITS-CLIP 22473208
MIRT1083366 hsa-miR-1 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane ISS
GO:0051260 Process Protein homooligomerization IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
613272 21305 ENSG00000136636
Protein
UniProt ID Q9Y597
Protein name BTB/POZ domain-containing protein KCTD3 (Renal carcinoma antigen NY-REN-45)
Protein function Accessory subunit of potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 (HCN3) up-regulating its cell-surface expression and current density without affecting its voltage dependence and kinetics. {ECO:0000250|UniProtK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02214 BTB_2 20 109 BTB/POZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Broadly expressed in normal tissues. {ECO:0000269|PubMed:10508479}.
Sequence
MAGGHCGSFPAAAAGSGEIVQLNVGGTRFSTSRQTLMWIPDSFFSSLLSGRISTLRDETG
AIFIDRDPAAFAPILNFLRTKELDLRGVSINVLRHEAEFYGITPLVRRL
LLCEELERSSC
GSVLFHGYLPPPGIPSRKINNTVRSADSRNGLNSTEGEARGNGTQPVLSGTGEETVRLGF
PVDPRKVLIVAGHHNWIVAAYAHFAVCYRIKESSGWQQVFTSPYLDWTIERVALNAKVVG
GPHGDKDKMVAVASESSIILWSVQDGGSGSEIGVFSLGVPVDALFFIGNQLVATSHTGKV
GVWNAVTQHWQVQDVVPITSYDTAGSFLLLGCNNGSIYYIDMQKFPLRMKDNDLLVTELY
HDPSNDAITALSVYLTPKTSVSGNWIEIAYGTSSGAVRVIVQHPETVGSGPQLFQTFTVH
RSPVTKIMLSEKHLVSVCADNNHVRTWTVTRFRGMISTQPGSTPLASFKILSLEETESHG
SYSSGNDIGPFGERDDQQVFIQKVVPITNKLFVRLSSTGKRICEIQAVDCTTISSFTVRE
CEGSSRMGSRPRRYLFTGHTNGSIQMWDLTTAMDMVNKSEDKDVGGPTEEELLKLLDQCD
LSTSRCATPNISPATSVVQHSHLRESNSSLQLQHHDTTHEAATYGSMRPYRESPLLARAR
RTESFHSYRDFQTINLNRNVERAVPENGNLGPIQAEVKGATGECNISERKSPGVEIKSLR
ELDSGLEVHKIAEGFSESKKRSSEDENENKIEFRKKGGFEGGGFLGRKKVPYLASSPSTS
DGGTDSPGTASPSPTKTTPSPRHKKSDSSGQEYSL
Sequence length 815
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Epileptic encephalopathy Epileptic encephalopathy rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
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