Seroatlas · Human Serome Atlas

BTBD3

BTB/POZ domain-containing protein 3

Also known as: BTBD3_HUMAN, dJ742J24.1, KIAA0952

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

Protein identityUniProt · HPA

UniProt accession
Q9Y2F9
Gene
BTBD3
Ensembl
ENSG00000132640
Chromosome
20
Canonical length
522 aa
Protein class
Predicted intracellular proteins
Subcellular location
Vesicles

OverviewNCBI Gene

Enables identical protein binding activity. Predicted to be involved in cerebral cortex development and dendrite morphogenesis. Predicted to be located in nucleus. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

522 residues, UniProt reviewed canonical sequence.

>Q9Y2F9|BTBD3
     1  MVDDKEKNMK CLTFFLMLPE TVKNRSKKSS KKANTSSSSS NSSKLPPVCY EIITLKTKKK
    61  KMAADIFPRK KPANSSSTSV QQYHQQNLSN NNLIPAPNWQ GLYPTIRERN AMMFNNDLMA
   121  DVHFVVGPPG GTQRLPGHKY VLAVGSSVFH AMFYGELAED KDEIRIPDVE PAAFLAMLKY
   181  IYCDEIDLAA DTVLATLYAA KKYIVPHLAR ACVNFLETSL SAKNACVLLS QSCLFEEPDL
   241  TQRCWEVIDA QAELALKSEG FCDIDFQTLE SILRRETLNA KEIVVFEAAL NWAEVECQRQ
   301  DLALSIENKR KVLGKALYLI RIPTMALDDF ANGAAQSGVL TLNETNDIFL WYTAAKKPEL
   361  QFVSKARKGL VPQRCHRFQS CAYRSNQWRY RGRCDSIQFA VDKRVFIAGF GLYGSSCGSA
   421  EYSAKIELKR QGVVLGQNLS KYFSDGSSNT FPVWFEYPVQ IEPDTFYTAS VILDGNELSY
   481  FGQEGMTEVQ CGKVTVQFQC SSDSTNGTGV QGGQIPELIF YA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BTBD3 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)
0.31
Highest tissue expression
66 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 66 nTPM
  • hippocampal formation: 50 nTPM
  • placenta: 40 nTPM
  • retina: 39 nTPM
  • spinal cord: 33 nTPM
  • cerebral cortex: 32 nTPM

Single-cell type

  • parietal cells: 256 nCPM
  • oligodendrocytes: 244 nCPM
  • endometrial stromal cells: 240 nCPM
  • adrenal cortex cells: 200 nCPM
  • sertoli cells: 191 nCPM
  • cone photoreceptor cells: 170 nCPM

Immune cell

  • non-classical monocyte: 3.5 nTPM
  • intermediate monocyte: 1.7 nTPM
  • myeloid DC: 1.4 nTPM
  • classical monocyte: 1.2 nTPM
  • plasmacytoid DC: 1 nTPM
  • NK-cell: 0.7 nTPM

Brain region

  • cerebral cortex: 212 nTPM
  • hippocampal formation: 211 nTPM
  • cerebellum: 182 nTPM
  • white matter: 172 nTPM
  • basal ganglia: 113 nTPM
  • medulla oblongata: 108 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)
0.57
gnomAD pLI
0.13
gnomAD missense Z
2.64
DepMap mean gene effect
0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 BTBD3 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 BTBD3 as an antibody target. Whether an autoantibody or antibody against BTBD3 could matter depends on whether native BTBD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BTBD3 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 BTBD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BTBD3. 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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