Seroatlas · Human Serome Atlas

KCTD7

BTB/POZ domain-containing protein KCTD7

Also known as: CLN14, EPM3, FLJ32069, KCTD7_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q96MP8
Gene
KCTD7
Ensembl
ENSG00000243335
Chromosome
7
Canonical length
289 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

OverviewNCBI Gene

This gene encodes a member of the potassium channel tetramerization domain-containing protein family. Family members are identified on a structural basis and contain an amino-terminal domain similar to the T1 domain present in the voltage-gated potassium channel. Mutations in this gene have been associated with progressive myoclonic epilepsy-3. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]

Canonical amino-acid sequenceUniProt

289 residues, UniProt reviewed canonical sequence.

>Q96MP8|KCTD7
     1  MVVVTGREPD SRRQDGAMSS SDAEDDFLEP ATPTATQAGH ALPLLPQEFP EVVPLNIGGA
    61  HFTTRLSTLR CYEDTMLAAM FSGRHYIPTD SEGRYFIDRD GTHFGDVLNF LRSGDLPPRE
   121  RVRAVYKEAQ YYAIGPLLEQ LENMQPLKGE KVRQAFLGLM PYYKDHLERI VEIARLRAVQ
   181  RKARFAKLKV CVFKEEMPIT PYECPLLNSL RFERSESDGQ LFEHHCEVDV SFGPWEAVAD
   241  VYDLLHCLVT DLSAQGLTVD HQCIGVCDKH LVNHYYCKRP IYEFKITWW

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KCTD7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.37
Highest tissue expression
61 nTPM

Expression across tissuesHPA

Tissue

  • retina: 61 nTPM
  • spinal cord: 34 nTPM
  • midbrain: 23 nTPM
  • ovary: 20 nTPM
  • basal ganglia: 19 nTPM
  • hippocampal formation: 19 nTPM

Single-cell type

  • microglia: 88 nCPM
  • oligodendrocytes: 53 nCPM
  • astrocytes: 29 nCPM
  • brain inhibitory neurons: 29 nCPM
  • other brain neurons: 28 nCPM
  • brain excitatory neurons: 25 nCPM

Immune cell

  • eosinophil: 6.9 nTPM
  • MAIT T-cell: 3.6 nTPM
  • naive B-cell: 3.4 nTPM
  • gdT-cell: 3.3 nTPM
  • T-reg: 3.1 nTPM
  • memory CD4 T-cell: 2.8 nTPM

Brain region

  • white matter: 56 nTPM
  • medulla oblongata: 44 nTPM
  • pons: 42 nTPM
  • thalamus: 39 nTPM
  • cerebellum: 37 nTPM
  • midbrain: 37 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about KCTD7.

Disease | AllUniProt

Conditions KCTD7 is implicated in, by any mechanism.

  • Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) MIM:611726

Disease | GeneticClinVar

37 pathogenic / likely-pathogenic of 464 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.65
gnomAD pLI
0
gnomAD missense Z
1.47
DepMap mean gene effect
0
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of KCTD7 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KCTD7 as an antibody target. Whether an autoantibody or antibody against KCTD7 could matter depends on whether native KCTD7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KCTD7 is annotated at the cell surface, where native KCTD7 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label KCTD7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KCTD7. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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