Seroatlas · Human Serome Atlas

BTBD2

BTB/POZ domain-containing protein 2

Also known as: BTBD2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: Q9BX70
Gene: BTBD2
Ensembl: ENSG00000133243
Chromosome: 19
Canonical length: 525 aa
Protein class: Predicted intracellular proteins

OverviewNCBI Gene

The C-terminus of the protein encoded by this gene binds topoisomerase I. The N-terminus contains a proline-rich region and a BTB/POZ domain (broad-complex, Tramtrack and bric a brac/Pox virus and Zinc finger), both of which are typically involved in protein-protein interactions. Subcellularly, the protein localizes to cytoplasmic bodies. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

525 residues, UniProt reviewed canonical sequence.

>Q9BX70|BTBD2
     1  MAAGGSGGRA SCPPGVGVGP GTGGSPGPSA NAAATPAPGN AAAAAAAAAA AAAAPGPTPP
    61  APPGPGTDAQ AAGAERAEEA AGPGAAALQR EAAYNWQASK PTVQERFAFL FNNEVLCDVH
   121  FLVGKGLSSQ RIPAHRFVLA VGSAVFDAMF NGGMATTSTE IELPDVEPAA FLALLKFLYS
   181  DEVQIGPETV MTTLYTAKKY AVPALEAHCV EFLKKNLRAD NAFMLLTQAR LFDEPQLASL
   241  CLENIDKNTA DAITAEGFTD IDLDTLVAVL ERDTLGIREV RLFNAVVRWS EAECQRQQLQ
   301  VTPENRRKVL GKALGLIRFP LMTIEEFAAG PAQSGILVDR EVVSLFLHFT VNPKPRVEFI
   361  DRPRCCLRGK ECSINRFQQV ESRWGYSGTS DRIRFSVNKR IFVVGFGLYG SIHGPTDYQV
   421  NIQIIHTDSN TVLGQNDTGF SCDGSASTFR VMFKEPVEVL PNVNYTACAT LKGPDSHYGT
   481  KGLRKVTHES PTTGAKTCFT FCYAAGNNNG TSVEDGQIPE VIFYT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BTBD2 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): 0.34
Highest tissue expression: 160 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 160 nTPM
amygdala: 138 nTPM
hippocampal formation: 132 nTPM
cerebellum: 83 nTPM
basal ganglia: 73 nTPM
hypothalamus: 72 nTPM

Single-cell type

epicardial cells: 125 nCPM
breast myoepithelial cells: 93 nCPM
prostatic hillock cells: 70 nCPM
esophageal apical cells: 68 nCPM
megakaryocytes: 62 nCPM
prostatic club cells: 59 nCPM

Immune cell

classical monocyte: 3.6 nTPM
T-reg: 3.1 nTPM
eosinophil: 2.7 nTPM
gdT-cell: 2.7 nTPM
total PBMC: 2.4 nTPM
myeloid DC: 2.3 nTPM

Brain region

cerebral cortex: 193 nTPM
hippocampal formation: 173 nTPM
amygdala: 147 nTPM
basal ganglia: 138 nTPM
thalamus: 128 nTPM
white matter: 121 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BTBD2.

Disease | ImmuneIEDB

Conditions an epitope on BTBD2 was assayed in.

melanoma T cell

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): 0.39
gnomAD pLI: 0.88
gnomAD missense Z: 1.79
DepMap mean gene effect: -0.05
DepMap dependency class: selective

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

neurogenesis

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Cytoplasm

InteractionsUniProt · HPA

Protein binding partners of BTBD2 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 BTBD2 as an antibody target. Whether an autoantibody or antibody against BTBD2 could matter depends on whether native BTBD2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BTBD2 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 BTBD2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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