BAHD1
gene geneOn this page
Also known as KIAA0945
Summary
BAHD1 (bromo adjacent homology domain containing 1, HGNC:29153) is a protein-coding gene on chromosome 15q15.1, encoding Bromo adjacent homology domain-containing 1 protein (Q8TBE0). Heterochromatin protein that acts as a transcription repressor and has the ability to promote the formation of large heterochromatic domains.
Enables chromatin binding activity. Involved in heterochromatin formation and negative regulation of DNA-templated transcription. Located in nucleoplasm. Part of chromatin silencing complex.
Source: NCBI Gene 22893 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 135 total
- MANE Select transcript:
NM_014952
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29153 |
| Approved symbol | BAHD1 |
| Name | bromo adjacent homology domain containing 1 |
| Location | 15q15.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0945 |
| Ensembl gene | ENSG00000140320 |
| Ensembl biotype | protein_coding |
| OMIM | 613880 |
| Entrez | 22893 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 21 protein_coding, 1 retained_intron
ENST00000416165, ENST00000560846, ENST00000561234, ENST00000561464, ENST00000852443, ENST00000852444, ENST00000852445, ENST00000852446, ENST00000852447, ENST00000918911, ENST00000918912, ENST00000918913, ENST00000918914, ENST00000918915, ENST00000918916, ENST00000918917, ENST00000959369, ENST00000959370, ENST00000959371, ENST00000959372, ENST00000959373, ENST00000959374
RefSeq mRNA: 3 — MANE Select: NM_014952
NM_001301132, NM_001411044, NM_014952
CCDS: CCDS10058, CCDS73705, CCDS91980
Canonical transcript exons
ENST00000416165 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000942425 | 40461912 | 40462294 |
| ENSE00000942426 | 40463861 | 40464020 |
| ENSE00000942427 | 40464471 | 40464547 |
| ENSE00000942428 | 40465335 | 40465435 |
| ENSE00001377571 | 40458451 | 40459896 |
| ENSE00001492966 | 40440953 | 40441268 |
| ENSE00001629823 | 40465941 | 40468236 |
Expression profiles
Bgee: expression breadth ubiquitous, 274 present calls, max score 91.57.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.7170 / max 109.8383, expressed in 1782 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 146114 | 6.7873 | 1744 |
| 146116 | 2.2375 | 1204 |
| 146117 | 0.6444 | 381 |
| 146115 | 0.6311 | 380 |
| 146113 | 0.2017 | 101 |
| 146111 | 0.1607 | 63 |
| 146112 | 0.0543 | 31 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| olfactory bulb | UBERON:0002264 | 91.57 | silver quality |
| granulocyte | CL:0000094 | 88.93 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 88.15 | gold quality |
| right adrenal gland | UBERON:0001233 | 88.11 | gold quality |
| left adrenal gland | UBERON:0001234 | 88.03 | gold quality |
| type B pancreatic cell | CL:0000169 | 88.01 | gold quality |
| upper arm skin | UBERON:0004263 | 87.79 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 87.75 | gold quality |
| right ovary | UBERON:0002118 | 87.69 | gold quality |
| adrenal cortex | UBERON:0001235 | 87.65 | gold quality |
| vena cava | UBERON:0004087 | 87.48 | gold quality |
| left ovary | UBERON:0002119 | 87.41 | gold quality |
| adrenal gland | UBERON:0002369 | 87.23 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 87.21 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.17 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 87.12 | gold quality |
| apex of heart | UBERON:0002098 | 86.73 | gold quality |
| thyroid gland | UBERON:0002046 | 86.54 | gold quality |
| cardia of stomach | UBERON:0001162 | 86.08 | gold quality |
| ovary | UBERON:0000992 | 85.59 | gold quality |
| right testis | UBERON:0004534 | 85.40 | gold quality |
| left uterine tube | UBERON:0001303 | 85.08 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 84.92 | gold quality |
| nipple | UBERON:0002030 | 84.90 | gold quality |
| body of stomach | UBERON:0001161 | 84.69 | gold quality |
| body of pancreas | UBERON:0001150 | 84.67 | gold quality |
| left testis | UBERON:0004533 | 84.60 | gold quality |
| adenohypophysis | UBERON:0002196 | 84.54 | gold quality |
| thymus | UBERON:0002370 | 84.51 | gold quality |
| adrenal tissue | UBERON:0018303 | 84.48 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.95 |
| E-MTAB-6058 | no | 39.61 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
137 targeting BAHD1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-3667-3P | 99.99 | 67.17 | 1636 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
Literature-anchored findings (GeneRIF, showing 11)
- BAHD1 acts as a silencer by recruiting at specific promoters a set of proteins that coordinate heterochromatin assembly (PMID:19666599)
- findings show a Listeria virulence factor, lmo0438/lntA, could target the chromatin repressor BAHD1 in host cell nucleus to activate interferon-stimulated genes; LntA-BAHD1 interplay may modulate IFN-lambda-mediated immune response to control host colonization (PMID:21252314)
- Authors identified a dilysine motif (K180/K181) in the elbow region of Listeria monocytogenes LntA and a central proline-rich region in human BAHD1 as crucial for the direct LntA-BAHD1 interaction. (PMID:24449750)
- computational approaches leveraging public gene expression data can be used to infer potential genes or proteins for diseases, and BAHD1 might act as an indispensable factor in regulating the cellular inflammatory response in UC. (PMID:26183847)
- The BAH domain of BAHD1 is a histone H3K27me3 reader. (PMID:26850261)
- Biochemical analysis of the BAHD1-associated multiprotein complex identifies MIER proteins as novel partners of BAHD1 and suggests that BAHD1-MIER interaction forms a hub for histone deacetylases and methyltransferases (PMID:26938916)
- EFNA5, BAHD1 and PPP2R5E were particularly good candidates for novel disease loci (PMID:30352868)
- The effect of partial BAHD1 deficiency on behavior was then evaluated on Bahd1 heterozygous male mice, which have no lethal or metabolic phenotypes. Bahd1+/- mice showed anxiety-like behavior and reduced prepulse inhibition (PPI) of the startle response. (PMID:32407325)
- FBXO11-mediated proteolysis of BAHD1 relieves PRC2-dependent transcriptional repression in erythropoiesis. (PMID:33156908)
- A conserved BAH module within mammalian BAHD1 connects H3K27me3 to Polycomb gene silencing. (PMID:33823544)
- BAHD1 serves as a critical regulator of breast cancer cell proliferation and invasion. (PMID:35048286)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bahd1 | ENSDARG00000086789 |
| danio_rerio | ENSDARG00000102965 | |
| mus_musculus | Bahd1 | ENSMUSG00000040007 |
| rattus_norvegicus | Bahd1 | ENSRNOG00000010428 |
| drosophila_melanogaster | wge | FBGN0051151 |
Paralogs (2): TNRC18 (ENSG00000182095), BAHCC1 (ENSG00000266074)
Protein
Protein identifiers
Bromo adjacent homology domain-containing 1 protein — Q8TBE0 (reviewed: Q8TBE0)
All UniProt accessions (1): Q8TBE0
UniProt curated annotations — full annotation on UniProt →
Function. Heterochromatin protein that acts as a transcription repressor and has the ability to promote the formation of large heterochromatic domains. May act by recruiting heterochromatin proteins such as CBX5 (HP1 alpha), HDAC5 and MBD1. Represses IGF2 expression by binding to its CpG-rich P3 promoter and recruiting heterochromatin proteins. At specific stages of Listeria infection, in complex with TRIM28, corepresses interferon-stimulated genes, including IFNL1, IFNL2 and IFNL3.
Subunit / interactions. Interacts with CBX5 (HP1 alpha), HDAC5, MBD1 and SP1. Forms a transcription silencing complex with at least CBX3 (HP1 gamma), HDAC1, HDAC2 and TRIM28. Interacts with L.monocytogenes LntA; this interaction, occurring at a late Listeria infection stage, relieves transcription repression, mostly that of interferon-stimulated genes. Interacts with FBXO11.
Subcellular location. Nucleus. Chromosome.
Post-translational modifications. Ubiquitinated in a FBXO11-dependent manner; leading to degradation.
Domain organisation. The BAH domain is required for localization at H3K27me3.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TBE0-1 | 1 | yes |
| Q8TBE0-2 | 2 | |
| Q8TBE0-3 | 3 |
RefSeq proteins (3): NP_001288061, NP_001397973, NP_055767* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001025 | BAH_dom | Domain |
| IPR043151 | BAH_sf | Homologous_superfamily |
| IPR053032 | BAH_domain-containing | Family |
Pfam: PF01426
UniProt features (28 total): compositionally biased region 10, modified residue 6, region of interest 5, sequence variant 3, splice variant 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TBE0-F1 | 51.19 | 0.12 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (6): 8, 101, 121, 184, 206, 588
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 254 (showing top):
MORF_RAGE, GGGACCA_MIR133A_MIR133B, RNGTGGGC_UNKNOWN, RRAGTTGT_UNKNOWN, GCM_GSPT1, TGCACTT_MIR519C_MIR519B_MIR519A, LFA1_Q6, GCANCTGNY_MYOD_Q6, MORF_ATRX, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, SP1_Q2_01, CEBPB_01, NFKB_C, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC
GO Biological Process (3): heterochromatin formation (GO:0031507), negative regulation of DNA-templated transcription (GO:0045892), chromatin organization (GO:0006325)
GO Molecular Function (3): transcription cis-regulatory region binding (GO:0000976), chromatin binding (GO:0003682), protein binding (GO:0005515)
GO Cellular Component (4): nucleoplasm (GO:0005654), chromatin silencing complex (GO:0005677), chromosome (GO:0005694), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| cellular component assembly | 1 |
| heterochromatin boundary formation | 1 |
| negative regulation of gene expression, epigenetic | 1 |
| heterochromatin organization | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| cellular component organization | 1 |
| transcription regulatory region nucleic acid binding | 1 |
| sequence-specific double-stranded DNA binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1084 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BAHD1 | HDAC5 | Q9UQL6 | 684 |
| BAHD1 | SETDB1 | Q15047 | 553 |
| BAHD1 | MIER1 | Q8N108 | 535 |
| BAHD1 | PPP1R35 | Q8TAP8 | 493 |
| BAHD1 | MIER3 | Q7Z3K6 | 488 |
| BAHD1 | TRIM28 | Q13263 | 474 |
| BAHD1 | PDXDC1 | Q6P996 | 441 |
| BAHD1 | NAA30 | Q147X3 | 437 |
| BAHD1 | MRPL47 | Q9HD33 | 434 |
| BAHD1 | PHF20L1 | A8MW92 | 413 |
| BAHD1 | FBXL5 | Q9UKA1 | 412 |
| BAHD1 | RPUSD2 | Q8IZ73 | 404 |
| BAHD1 | PIK3IP1 | Q96FE7 | 400 |
| BAHD1 | TATDN2 | Q93075 | 398 |
| BAHD1 | TMEM43 | Q9BTV4 | 394 |
IntAct
244 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MDFI | BAHD1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| BAHD1 | LZTS2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| LZTS2 | BAHD1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| BAHD1 | MDFI | psi-mi:“MI:0915”(physical association) | 0.780 |
| TRAF4 | BAHD1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| BAHD1 | TRAF4 | psi-mi:“MI:0915”(physical association) | 0.720 |
| KHDRBS3 | BAHD1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| BAHD1 | KHDRBS3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TRAF2 | BAHD1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| BAHD1 | DVL3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| BAHD1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| BAHD1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| BAHD1 | KRTAP10-7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TLE5 | BAHD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA2 | BAHD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CALCOCO2 | BAHD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAHD1 | KRT40 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-7 | BAHD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAHD1 | CALCOCO2 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (83): BAHD1 (Two-hybrid), BAHD1 (Two-hybrid), BAHD1 (Two-hybrid), BAHD1 (Two-hybrid), BAHD1 (Two-hybrid), BAHD1 (Two-hybrid), LZTS2 (Two-hybrid), KRT40 (Two-hybrid), KRTAP10-7 (Two-hybrid), KRTAP10-1 (Two-hybrid), KRTAP10-3 (Two-hybrid), BAHD1 (Affinity Capture-MS), BAHD1 (Two-hybrid), BAHD1 (Two-hybrid), BEGAIN (Two-hybrid)
ESM2 similar proteins: A0JNJ4, A2APT9, A6NEL2, A6NP61, B1ASB6, B1WBS3, B2RXF5, F6WEQ6, O15015, O43918, O88282, O88286, O95785, P98168, P98169, Q2M3G4, Q2MHN3, Q2QGD7, Q3U1J1, Q3U381, Q497V6, Q5SW24, Q5SXM2, Q6YND2, Q6ZMQ8, Q6ZMY3, Q7TN08, Q7TSX9, Q80SU3, Q80YE4, Q811H0, Q8BG26, Q8BZW2, Q8C8V1, Q8IX07, Q8IY92, Q8N143, Q8N1G0, Q8NC74, Q8TBE0
Diamond homologs: O15417, Q3LHL9, Q497V6, Q80WC3, Q8TBE0, F4JGB7, F4JL28, Q3UHR0, Q9FEN9, Q9P281
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 64 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Keratinization | 7 | 8.9× | 3e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
135 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 131 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
939 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:40463851:T:TA | acceptor_gain | 1.0000 |
| 15:40463858:TA:T | acceptor_loss | 1.0000 |
| 15:40463859:A:AG | acceptor_gain | 1.0000 |
| 15:40463859:AG:A | acceptor_gain | 1.0000 |
| 15:40463860:G:GT | acceptor_gain | 1.0000 |
| 15:40463860:GG:G | acceptor_gain | 1.0000 |
| 15:40463860:GGAT:G | acceptor_gain | 1.0000 |
| 15:40464017:TCAGG:T | donor_loss | 1.0000 |
| 15:40464018:CAG:C | donor_loss | 1.0000 |
| 15:40464021:G:GA | donor_loss | 1.0000 |
| 15:40464022:T:G | donor_loss | 1.0000 |
| 15:40464466:TCCA:T | acceptor_loss | 1.0000 |
| 15:40464469:A:AG | acceptor_gain | 1.0000 |
| 15:40464469:AGG:A | acceptor_loss | 1.0000 |
| 15:40464470:G:GG | acceptor_gain | 1.0000 |
| 15:40464470:GGA:G | acceptor_gain | 1.0000 |
| 15:40464547:GGT:G | donor_loss | 1.0000 |
| 15:40464548:GT:G | donor_loss | 1.0000 |
| 15:40464549:T:G | donor_loss | 1.0000 |
| 15:40465331:T:TA | acceptor_gain | 1.0000 |
| 15:40465333:A:AG | acceptor_gain | 1.0000 |
| 15:40465334:G:GG | acceptor_gain | 1.0000 |
| 15:40465432:GCAG:G | donor_gain | 1.0000 |
| 15:40465433:CAGG:C | donor_loss | 1.0000 |
| 15:40465436:G:GA | donor_loss | 1.0000 |
| 15:40465436:G:GG | donor_gain | 1.0000 |
| 15:40465940:GGTTC:G | acceptor_gain | 1.0000 |
| 15:40462292:TTGGT:T | donor_loss | 0.9900 |
| 15:40462293:TGG:T | donor_loss | 0.9900 |
| 15:40462294:GGT:G | donor_loss | 0.9900 |
AlphaMissense
4977 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:40462250:T:A | W591R | 1.000 |
| 15:40462250:T:C | W591R | 1.000 |
| 15:40462251:G:C | W591S | 1.000 |
| 15:40462252:G:C | W591C | 1.000 |
| 15:40462252:G:T | W591C | 1.000 |
| 15:40463891:T:G | Y616D | 1.000 |
| 15:40463933:G:C | D630H | 1.000 |
| 15:40463934:A:C | D630A | 1.000 |
| 15:40463934:A:T | D630V | 1.000 |
| 15:40463940:T:A | V632D | 1.000 |
| 15:40463943:T:C | L633P | 1.000 |
| 15:40463946:T:A | L634H | 1.000 |
| 15:40463946:T:C | L634P | 1.000 |
| 15:40463985:C:A | A647D | 1.000 |
| 15:40463989:G:C | K648N | 1.000 |
| 15:40463989:G:T | K648N | 1.000 |
| 15:40463991:T:A | I649N | 1.000 |
| 15:40463991:T:G | I649S | 1.000 |
| 15:40463996:G:C | A651P | 1.000 |
| 15:40464000:T:C | L652P | 1.000 |
| 15:40464002:T:A | W653R | 1.000 |
| 15:40464002:T:C | W653R | 1.000 |
| 15:40464003:G:C | W653S | 1.000 |
| 15:40464004:G:C | W653C | 1.000 |
| 15:40464004:G:T | W653C | 1.000 |
| 15:40464485:A:C | S664R | 1.000 |
| 15:40464487:C:A | S664R | 1.000 |
| 15:40464487:C:G | S664R | 1.000 |
| 15:40464489:T:A | L665H | 1.000 |
| 15:40464489:T:C | L665P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000050417 (15:40454025 A>G), RS1000063701 (15:40441912 C>A,G,T), RS1000281142 (15:40437985 G>A), RS1000285592 (15:40450374 T>C), RS1000437327 (15:40455694 C>A,G,T), RS1000482275 (15:40467750 C>G,T), RS1000552674 (15:40437601 C>A), RS1000615673 (15:40439890 G>T), RS1000701201 (15:40467434 G>A,C), RS1000725808 (15:40456468 C>T), RS1000732444 (15:40444732 G>A), RS1000964166 (15:40445659 G>A), RS1000995268 (15:40445937 G>C), RS1000998898 (15:40461357 G>C,T), RS1001085831 (15:40460720 A>C,G)
Disease associations
OMIM: gene MIM:613880 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010002_167 | Refractive error | 3.000000e-11 |
| GCST010242_81 | HDL cholesterol levels | 2.000000e-08 |
| GCST010725_23 | Malaria | 2.000000e-06 |
| GCST010725_38 | Malaria | 3.000000e-06 |
| GCST010725_80 | Malaria | 7.000000e-06 |
| GCST90002396_631 | Mean reticulocyte volume | 2.000000e-16 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0010701 | mean reticulocyte volume |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs3803357 | BAHD1 | 0.00 | 0 |
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 4 |
| Arsenic | decreases expression, decreases methylation, increases abundance, affects cotreatment, increases expression | 3 |
| Benzo(a)pyrene | decreases methylation, increases methylation, increases mutagenesis | 2 |
| Valproic Acid | decreases methylation, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Ouabain | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Urethane | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Metals, Heavy | increases abundance, decreases methylation | 1 |
| Copper Sulfate | increases expression | 1 |
| Lactic Acid | increases expression | 1 |
| Acrylamide | increases expression | 1 |
| Vitamin K 3 | affects expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D6BH | HyCyte HeLa KO-hBAHD1 | Cancer cell line | Female |
| CVCL_D9YG | Ubigene HeLa BAHD1 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.