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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BAHD1
bromo adjacent homology domain containing 1
Chromosome 15 · 15q15.1
NCBI Gene: 22893Ensembl: ENSG00000140320.13HGNC: HGNC:29153UniProt: Q8TBE0
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
heterochromatin formationchromatin silencing complexprotein bindingchromatin bindingatrial fibrillationimmunodeficiency 28Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiencyImmunodeficiency due to a late component of complements deficiency
✦AI Summary

BAHD1 (bromo adjacent homology domain containing 1) functions as a heterochromatin protein that promotes transcriptional repression through the formation of large heterochromatic domains 1. The protein operates by recruiting key heterochromatin proteins including HP1 (CBX5), HDAC5, and MBD1 to specific genomic loci 1. BAHD1 contains a BAH domain that directly recognizes H3K27me3 histone modifications, which is essential for its chr15 targeting and optimal gene repression 2. The protein specifically represses genes involved in proliferation and survival, including IGF2, by binding to CpG-rich promoter regions and recruiting chr15-modifying complexes 1. BAHD1 forms a multiprotein complex with MIER proteins, creating a hub for histone deacetylases, methyltransferases, and transcription factors 3. Disease relevance includes roles in placental development, steroid metabolism regulation, and cancer radioresistance through enhanced heterochromatin formation 34. BAHD1 deficiency in mice results in anxiety-like behaviors and metabolic abnormalities, indicating important physiological functions in brain development and metabolism 53. The protein also serves as a target for bacterial virulence factors, with Listeria LntA inhibiting BAHD1 to stimulate interferon responses during infection 6. Recent evidence suggests BAHD1 mutations may contribute to human developmental disorders 78.

Sources cited
1
BAHD1 promotes heterochromatic gene silencing by recruiting HP1, HDAC5, and MBD1, and specifically represses IGF2
PMID: 19666599
2
BAHD1 BAH domain directly binds H3K27me3 and is required for chromatin targeting and gene repression
PMID: 33823544
3
BAHD1 forms complexes with MIER proteins and regulates placental development and steroid metabolism
PMID: 26938916
4
BAHD1 overexpression contributes to cancer radioresistance through enhanced heterochromatin formation
PMID: 39719436
5
BAHD1 deficiency causes anxiety-like behaviors and affects brain gene expression
PMID: 32407325
6
Bacterial LntA targets BAHD1 to stimulate interferon responses
PMID: 24449750
7
BAHD1 disruption identified as candidate disease gene in balanced chromosomal translocations
PMID: 30352868
8
BAHD1 mutations implicated in developmental disorders including hypospadias
PMID: 39812948
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.13Weak
immunodeficiency 28Open Targets
0.06Suggestive
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiencyOpen Targets
0.06Suggestive
Immunodeficiency due to a late component of complements deficiencyOpen Targets
0.06Suggestive
Genu valgumOpen Targets
0.06Suggestive
recurrent Neisseria infections due to factor D deficiencyOpen Targets
0.06Suggestive
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiencyOpen Targets
0.05Suggestive
Alymphoid cystic thymic dysgenesisOpen Targets
0.05Suggestive
Autosomal recessive hyper-IgE syndromeOpen Targets
0.05Suggestive
Autosomal recessive hyper-IgE syndrome due to TYK2 deficiencyOpen Targets
0.05Suggestive
immunodeficiency 35Open Targets
0.05Suggestive
Genu varumOpen Targets
0.05Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.05Suggestive
immunodeficiency 31BOpen Targets
0.04Suggestive
Susceptibility to viral and mycobacterial infectionsOpen Targets
0.04Suggestive
Aicardi-Goutières syndromeOpen Targets
0.04Suggestive
Aicardi-Goutieres syndrome 2Open Targets
0.04Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.04Suggestive
combined immunodeficiency with skin granulomasOpen Targets
0.04Suggestive
immunodeficiency 15aOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
H2AL3Shared pathway100%H2AC21Shared pathway100%H2AC1Shared pathway100%AEBP2Shared pathway100%H2AC12Shared pathway100%CBX2Shared pathway100%
Tissue Expression6 tissues
Ovary
100%
Lung
59%
Liver
53%
Bone Marrow
50%
Heart
48%
Brain
42%
Gene Interaction Network
Click a node to explore
BAHD1H2AL3H2AC21H2AC1AEBP2H2AC12CBX2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8TBE0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.45Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.31 [0.22–0.45]
RankingsWhere BAHD1 stands among ~20K protein-coding genes
  • #11,117of 20,598
    Most Researched34
  • #2,484of 17,882
    Most Constrained (LOEUF)0.45 · top quartile
Genes detectedBAHD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human BAHD1 promotes heterochromatic gene silencing.
PMID: 19666599
Proc Natl Acad Sci U S A · 2009
1.00
2
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to
PMID: 30352868
J Med Genet · 2019
0.90
3
Genomic and transcriptomic profiling of radioresistant prostate and head and neck cancers implicate a BAHD1-dependent modification of DNA damage at the heterochromatin.
PMID: 39719436
Cell Death Dis · 2024
0.80
4
BAHD1 haploinsufficiency results in anxiety-like phenotypes in male mice.
PMID: 32407325
PLoS One · 2020
0.70
5
Role of the BAHD1 Chromatin-Repressive Complex in Placental Development and Regulation of Steroid Metabolism.
PMID: 26938916
PLoS Genet · 2016
0.60