Seroatlas · Human Serome Atlas

BACH2

Transcription regulator protein BACH2

Also known as: BACH2_HUMAN, BTBD25

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

Protein identityUniProt · HPA

UniProt accession: Q9BYV9
Gene: BACH2
Ensembl: ENSG00000112182
Chromosome: 6
Canonical length: 841 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

Enables sequence-specific double-stranded DNA binding activity. Involved in primary adaptive immune response involving T cells and B cells. Located in cytosol and nucleoplasm. Part of RNA polymerase II transcription regulator complex. Implicated in immunodeficiency 60. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

841 residues, UniProt reviewed canonical sequence.

>Q9BYV9|BACH2
     1  MSVDEKPDSP MYVYESTVHC TNILLGLNDQ RKKDILCDVT LIVERKEFRA HRAVLAACSE
    61  YFWQALVGQT KNDLVVSLPE EVTARGFGPL LQFAYTAKLL LSRENIREVI RCAEFLRMHN
   121  LEDSCFSFLQ TQLLNSEDGL FVCRKDAACQ RPHEDCENSA GEEEDEEEET MDSETAKMAC
   181  PRDQMLPEPI SFEAAAIPVA EKEEALLPEP DVPTDTKESS EKDALTQYPR YKKYQLACTK
   241  NVYNASSHST SGFASTFRED NSSNSLKPGL ARGQIKSEPP SEENEEESIT LCLSGDEPDA
   301  KDRAGDVEMD RKQPSPAPTP TAPAGAACLE RSRSVASPSC LRSLFSITKS VELSGLPSTS
   361  QQHFARSPAC PFDKGITQGD LKTDYTPFTG NYGQPHVGQK EVSNFTMGSP LRGPGLEALC
   421  KQEGELDRRS VIFSSSACDQ VSTSVHSYSG VSSLDKDLSE PVPKGLWVGA GQSLPSSQAY
   481  SHGGLMADHL PGRMRPNTSC PVPIKVCPRS PPLETRTRTS SSCSSYSYAE DGSGGSPCSL
   541  PLCEFSSSPC SQGARFLATE HQEPGLMGDG MYNQVRPQIK CEQSYGTNSS DESGSFSEAD
   601  SESCPVQDRG QEVKLPFPVD QITDLPRNDF QMMIKMHKLT SEQLEFIHDV RRRSKNRIAA
   661  QRCRKRKLDC IQNLECEIRK LVCEKEKLLS ERNQLKACMG ELLDNFSCLS QEVCRDIQSP
   721  EQIQALHRYC PVLRPMDLPT ASSINPAPLG AEQNIAASQC AVGENVPCCL EPGAAPPGPP
   781  WAPSNTSENC TSGRRLEGTD PGTFSERGPP LEPRSQTVTV DFCQEMTDKC TTDEQPRKDY
   841  T

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BACH2 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): 0.62
Highest tissue expression: 16 nTPM

Expression across tissuesHPA

Tissue

lymph node: 16 nTPM
tonsil: 13 nTPM
thymus: 12 nTPM
bone marrow: 6.9 nTPM
appendix: 5.2 nTPM
spleen: 4.5 nTPM

Single-cell type

b-cells: 2,053 nCPM
innate lymphoid cells: 908 nCPM
epididymal basal cells: 766 nCPM
cone photoreceptor cells: 723 nCPM
thymocytes: 670 nCPM
t-cells: 575 nCPM

Immune cell

naive B-cell: 4.8 nTPM
memory B-cell: 2 nTPM
naive CD4 T-cell: 1.6 nTPM
naive CD8 T-cell: 1.3 nTPM
NK-cell: 0.9 nTPM
basophil: 0.6 nTPM

Brain region

white matter: 11 nTPM
medulla oblongata: 9.4 nTPM
cerebellum: 8.3 nTPM
hypothalamus: 7.8 nTPM
basal ganglia: 7.5 nTPM
pons: 7.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BACH2.

Disease | AllUniProt

Conditions BACH2 is implicated in, by any mechanism.

Immunodeficiency 60 and autoimmunity (IMD60) MIM:618394

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 608 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Immunodeficiency 60

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): 0.23
gnomAD pLI: 1
gnomAD missense Z: 2.3
DepMap mean gene effect: 0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

import into nucleus
negative regulation of transcription by RNA polymerase II
regulation of transcription by RNA polymerase II
primary adaptive immune response involving T cells and B cells

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BACH2 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 BACH2 as an antibody target. Whether an autoantibody or antibody against BACH2 could matter depends on whether native BACH2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BACH2 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 BACH2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...