KCTD12 - potassium channel tetramerization domain containing 12 Gene

Also Known as PFET1; PFETIN; C13orf2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 115207

About KCTD12

Cytogenetic location: 13q22.3 Genomic coordinates (GRCh38): 13:76,880,175-76,886,405 (from NCBI)

This gene has 1 transcript (splice variant), 257 orthologues and 13 paralogues.

Summary

Enables identical protein binding activity. Predicted to be involved in protein homooligomerization. Predicted to act upstream of or within regulation of G protein-coupled receptor signaling pathway. Predicted to be located in cell projection. Predicted to be part of receptor complex. Predicted to be active in postsynaptic membrane and presynaptic membrane. [provided by Alliance of Genome Resources, Apr 2022]

KCTD12 Products (1)

mRNA Protein Name
NM_138444.4 NP_612453.1 BTB/POZ domain-containing protein KCTD12
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
27152988 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

KCTD12 Protein Structure

BTB_2

BTB_2: BTB/POZ domain (36 - 125)

  • 0
  • 100
  • 200
  • 300
  • 325 a.a.
Protein Preferred Names Protein Names

BTB/POZ domain-containing protein KCTD12

  • potassium channel tetramerisation domain containing 12

KCTD12 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
KCTD12 Q96CX2 KCTD12 Homo sapiens Q96CX2
GMS
27152988
Intra
KCTD12 Q96CX2 KCTD12 Homo sapiens Q96CX2
EM
27152988
Intra
KCTD12 Q96CX2 TNFRSF1B Homo sapiens P20333
TAP
14743216
Intra
KCTD12 Q96CX2 RELA Homo sapiens Q04206-2
TAP
14743216
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Scalp-Ear-Nipple Syndrome
  • Finlay-Marks Syndrome

  • Sen Syndrome

  • SENS

  • Scalp Ear Nipple Syndrome

  • Hereditary Syndrome Of Lumpy Scalp, Odd Ears And Rudimentary Nipples

  • Hereditary Syndrome Of Lumpy Scalp, Odd Ears, And Rudimentary Nipples

  • Indian Childhood Cirrhosis

Bipolar I Disorder
  • Manic Depression Nos

  • Manic-Depressive Illness

  • Bipolar Disorder Nos

Gastrointestinal Stromal Tumor
  • GIST

  • Gastrointestinal Stromal Tumors

  • Gastrointestinal Stromal Sarcoma

  • Gastrointestinal Stromal Tumor, Familial

  • Gant

  • Gastrointestinal Stromal Tumour

  • Stromal Tumor Of Gastrointestinal Tract

  • Stromal Tumour Of Gastrointestinal Tract

  • Gastrointestinal Stromal Neoplasm

  • Paraganglioma And Gastric Stromal Sarcoma

  • Plexosarcoma

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Rattus norvegicus KCTD12 RGD RGD:1309421
Felis catus KCTD12 VGNC VGNC:97471
Bos taurus KCTD12 VGNC VGNC:30502
Macaca mulatta KCTD12 VGNC VGNC:106266
Mus musculus KCTD12 MGD MGI:2145823
Canis familiaris KCTD12 VGNC VGNC:42301
Others KCTD12 NCBI