KCTD12 potassium channel tetramerization domain containing 12 [Homo sapiens (human)] - Gene

Summary

Official Symbol: KCTD12provided by HGNC
Official Full Name: potassium channel tetramerization domain containing 12provided by HGNC
Primary source: HGNC:HGNC:14678
See related: Ensembl:ENSG00000178695 MIM:610521; AllianceGenome:HGNC:14678
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PFET1; PFETIN; C13orf2
Summary: Enables identical protein binding activity. Predicted to be involved in regulation of G protein-coupled receptor signaling pathway. Predicted to be located in cell projection; plasma membrane; and synapse. Predicted to be part of receptor complex. Predicted to be active in GABA-ergic synapse; postsynaptic membrane; and presynaptic active zone membrane. [provided by Alliance of Genome Resources, Oct 2024]
Orthologs: mouse all
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Genomic context

Location:: 13q22.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (76880175..76886405, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (76103834..76110076, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (77454310..77460540, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A pan-cancer analysis of potassium channel tetramerization domain containing 12 in human cancer.
Title: A pan-cancer analysis of potassium channel tetramerization domain containing 12 in human cancer.
KCTD12 promotes G1/S transition of breast cancer cell through activating the AKT/FOXO1 signaling.
Title: KCTD12 promotes G1/S transition of breast cancer cell through activating the AKT/FOXO1 signaling.
Bayesian Genome-wide TWAS Method to Leverage both cis- and trans-eQTL Information through Summary Statistics.
Title: Bayesian Genome-wide TWAS Method to Leverage both cis- and trans-eQTL Information through Summary Statistics.
association of KCTD12 gene and miR-383-binding genes with rumination
Title: Genome-wide association analysis reveals KCTD12 and miR-383-binding genes in the background of rumination.
KCTD12 may exert its inhibitory role in ESCC through the suppression of WNT /NOTCH, stem cell factors, and chromatin remodelers and can be introduced as an efficient therapeutic marker.
Title: Contribution of KCTD12 to esophageal squamous cell carcinoma.
our study demonstrate that KCTD12 binds to CDC25B and activates CDK1 and Aurora A to facilitate the G2/M transition and promote tumorigenesis and that Aurora A phosphorylates KCTD12 at serine 243 to trigger a positive feedback loop, thereby potentiating the effects of KCTD12. Thus, the KCTD12-CDC25B-CDK1-Aurora A axis has important implications for cancer diagnoses and prognoses.
Title: KCTD12 promotes tumorigenesis by facilitating CDC25B/CDK1/Aurora A-dependent G2/M transition.
Low KCTD12 expression is associated with uveal melanoma.
Title: Lentiviral-mediated overexpression of KCTD12 inhibits the proliferation of human uveal melanoma OCM-1 cells.
Studies determined that KCTD12 plays an important role in the tumorigenesis of colorectal cancer progression via activation of the ERK signaling pathway.
Title: KCTD12 Regulates Colorectal Cancer Cell Stemness through the ERK Pathway.
N-terminal domain of KCTD12 assumes an alpha/beta structure, whereas the C-terminal domain is predominantly characterized by a beta-structure.
Title: A biophysical characterization of the folded domains of KCTD12: insights into interaction with the GABAB2 receptor.
KCTD12 is a useful and reliable biomarker for both the diagnosis and prognosis of gastrointestinal stromal tumor.
Title: Use of potassium channel tetramerization domain-containing 12 as a biomarker for diagnosis and prognosis of gastrointestinal stromal tumor.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-D20072 (e-PCR)
- UniSTS:28176

D13S844E (e-PCR)
- UniSTS:16154

RH78336 (e-PCR)
- UniSTS:48942

D13S1209E (e-PCR)
- UniSTS:153939

A002N08 (e-PCR)
- UniSTS:25687

D13S668E (e-PCR)
- UniSTS:153200

WI-17550 (e-PCR)
- UniSTS:55940

RH47229 (e-PCR)
- UniSTS:31625

STS-T94805 (e-PCR)
- UniSTS:39308

D13S1684 (e-PCR)
- UniSTS:23963

D13S831E (e-PCR)
- UniSTS:61174

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in protein homooligomerization	IEA Inferred from Electronic Annotation more info
involved_in regulation of G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
is_active_in presynaptic membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of receptor complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: BTB/POZ domain-containing protein KCTD12

Names: potassium channel tetramerisation domain containing 12; predominantly fetal expressed T1 domain; testicular tissue protein Li 100

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.