Seroatlas · Human Serome Atlas

KBTBD12

Kelch repeat and BTB domain-containing protein 12

Also known as: FLJ46299, KBTBC_HUMAN, KLHDC6

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

Protein identityUniProt · HPA

UniProt accession
Q3ZCT8
Gene
KBTBD12
Ensembl
ENSG00000187715
Chromosome
3
Canonical length
623 aa
Protein class
Predicted intracellular proteins

OverviewNCBI Gene

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

623 residues, UniProt reviewed canonical sequence.

>Q3ZCT8|KBTBD12
     1  MECKIEGKEK YQHSLNLLNK IQNMKELAEM IDVVLTAEGE KFPCHRLVLA AFSPYFKAMF
    61  TCGLLECNQR EVILYDITAE SVSVLLNYMY NAALEINNAN VQTVAMAAYF MQMEEVFSVC
   121  QKYMMDHMDA SNCLGIYYFA KQIGAEDLSD RSKKYLYQHF AEVSLHEEIL EIEVHQFLTL
   181  IKSDDLNISR EESILDLVLR WVNHNKELRT VHLVELLKQV RLELVNPSFL RQALRRNTML
   241  LCDADCVDII QNAFKAIKTP QQHSLNLRYG METTSLLLCI GNNSSGIRSR HRSYGDASFC
   301  YDPVSRKTYF ISSPKYGEGL GTVCTGVVME NNTIIVAGEA SASKLSRQKN KNVEIYRYHD
   361  RGNQFWEKLC TAEFRELYAL GSIHNDLYVI GGQMKIKNQY LITNCVDKYS VERDNWKRVS
   421  PLPLQLACHA VVTVNNKLYV IGGWTPQMDL PDEEPDRLSN KLLQYDPSQD QWSVRAPMKY
   481  SKYRFSTAVV NSEIYVLGGI GCVGQDKGQV RKCLDVVEIY NPDGDFWREG PPMPSPLLSL
   541  RTNSTNAGAV DGKLYVCGGF HGADRHEVIS KEILELDPWE NQWNVVAINV LMHDSYDVCL
   601  VARMNPRDLI PPPSDLVEEG NEH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against KBTBD12 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
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
55 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 55 nTPM
  • tongue: 24 nTPM
  • heart muscle: 13 nTPM
  • pancreas: 3.8 nTPM
  • basal ganglia: 2.6 nTPM
  • choroid plexus: 2.4 nTPM

Single-cell type

  • myonuclei: 396 nCPM
  • microglia: 291 nCPM
  • renal collecting duct intercalated cells: 165 nCPM
  • cardiomyocytes: 104 nCPM
  • choroid plexus epithelial cells: 103 nCPM
  • early spermatids: 85 nCPM

Immune cell

  • basophil: 0.7 nTPM
  • neutrophil: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • choroid plexus: 7.2 nTPM
  • cerebral cortex: 4.8 nTPM
  • hippocampal formation: 4.7 nTPM
  • basal ganglia: 4.6 nTPM
  • cerebellum: 4.6 nTPM
  • amygdala: 4.3 nTPM

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)
1.23
gnomAD pLI
0
gnomAD missense Z
0.28
DepMap mean gene effect
0.06
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads KBTBD12 as an antibody target. Whether an autoantibody or antibody against KBTBD12 could matter depends on whether native KBTBD12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

KBTBD12 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label KBTBD12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/KBTBD12. 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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