BTBD1
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Summary
BTBD1 (BTB domain containing 1, HGNC:1120) is a protein-coding gene on chromosome 15q25.2, encoding BTB/POZ domain-containing protein 1 (Q9H0C5). Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins.
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. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 53339 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 61 total — 1 pathogenic
- MANE Select transcript:
NM_025238
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1120 |
| Approved symbol | BTBD1 |
| Name | BTB domain containing 1 |
| Location | 15q25.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000064726 |
| Ensembl biotype | protein_coding |
| OMIM | 608530 |
| Entrez | 53339 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 12 protein_coding, 1 retained_intron, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined
ENST00000261721, ENST00000379403, ENST00000558344, ENST00000559652, ENST00000560015, ENST00000876368, ENST00000876369, ENST00000876370, ENST00000876371, ENST00000929299, ENST00000929300, ENST00000944296, ENST00000944297, ENST00000944298, ENST00000944299
RefSeq mRNA: 2 — MANE Select: NM_025238
NM_001011885, NM_025238
CCDS: CCDS10322, CCDS32313
Canonical transcript exons
ENST00000261721 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001103546 | 83050073 | 83050178 |
| ENSE00001103552 | 83066751 | 83067252 |
| ENSE00001103556 | 83056389 | 83056545 |
| ENSE00001663454 | 83016423 | 83018225 |
| ENSE00003464983 | 83020675 | 83020762 |
| ENSE00003582436 | 83018707 | 83018853 |
| ENSE00003586186 | 83030136 | 83030328 |
| ENSE00003593826 | 83041728 | 83041925 |
Expression profiles
Bgee: expression breadth ubiquitous, 290 present calls, max score 99.42.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.1711 / max 187.9417, expressed in 1816 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 151293 | 21.5153 | 1813 |
| 151292 | 1.1134 | 536 |
| 151290 | 0.8989 | 442 |
| 151291 | 0.6436 | 294 |
Top tissues by expression
292 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.42 | gold quality |
| vastus lateralis | UBERON:0001379 | 99.23 | gold quality |
| quadriceps femoris | UBERON:0001377 | 99.16 | gold quality |
| biceps brachii | UBERON:0001507 | 99.16 | gold quality |
| body of tongue | UBERON:0011876 | 98.99 | gold quality |
| diaphragm | UBERON:0001103 | 98.96 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 98.95 | gold quality |
| deltoid | UBERON:0001476 | 98.89 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 98.84 | gold quality |
| tibialis anterior | UBERON:0001385 | 98.73 | gold quality |
| gluteal muscle | UBERON:0002000 | 98.73 | gold quality |
| tongue | UBERON:0001723 | 98.52 | gold quality |
| myocardium | UBERON:0002349 | 98.47 | gold quality |
| muscle organ | UBERON:0001630 | 98.45 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 98.45 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 98.43 | gold quality |
| endothelial cell | CL:0000115 | 98.42 | gold quality |
| triceps brachii | UBERON:0001509 | 98.42 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.40 | gold quality |
| muscle tissue | UBERON:0002385 | 98.28 | gold quality |
| superior surface of tongue | UBERON:0007371 | 98.24 | gold quality |
| muscle of leg | UBERON:0001383 | 98.23 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 98.19 | gold quality |
| heart right ventricle | UBERON:0002080 | 98.17 | gold quality |
| jejunum | UBERON:0002115 | 98.14 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 98.03 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 97.97 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 97.90 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 97.87 | gold quality |
| jejunal mucosa | UBERON:0000399 | 97.83 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.57 |
| E-MTAB-6386 | no | 47.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
125 targeting BTBD1, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-3910 | 99.95 | 71.13 | 2227 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
Literature-anchored findings (GeneRIF, showing 3)
- subcellular colocalization of BTBD1 and BTBD2 to cytoplasmic bodies; TRIM5delta colocalized with BTBD1/2 and appeared to serve as a scaffold for the assembly of endogenous BTBD1/2 proteins (PMID:12878161)
- BTBD1 is essential for myogenic differentiation (PMID:15486563)
- Interaction of BTBD1 and BTBD2 with TOP1 requires TOP1 residues 236 and 237, the same residues required to enhance the infectivity of progeny virions when TOP1 is expressed in African Green Monkey producer cells. (PMID:21092135)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Btbd1 | ENSMUSG00000025103 |
| rattus_norvegicus | Btbd1 | ENSRNOG00000019529 |
Paralogs (11): ABTB1 (ENSG00000114626), SPOP (ENSG00000121067), KBTBD4 (ENSG00000123444), BTBD3 (ENSG00000132640), BTBD2 (ENSG00000133243), SPOPL (ENSG00000144228), ABTB3 (ENSG00000151136), ABTB2 (ENSG00000166016), KLHL11 (ENSG00000178502), BTBD9 (ENSG00000183826), BTBD6 (ENSG00000184887)
Protein
Protein identifiers
BTB/POZ domain-containing protein 1 — Q9H0C5 (reviewed: Q9H0C5)
Alternative names: Hepatitis C virus NS5A-transactivated protein 8
All UniProt accessions (2): Q9H0C5, H0YL89
UniProt curated annotations — full annotation on UniProt →
Function. Probable substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Seems to regulate expression levels and/or subnuclear distribution of TOP1, via an unknown mechanism. May play a role in mesenchymal differentiation where it promotes myogenic differentiation and suppresses adipogenesis.
Subunit / interactions. Interacts (via C-terminus) with TOP1. Interacts with TRIM5 isoform Delta. Interacts with CUL3.
Subcellular location. Cytoplasm.
Tissue specificity. Ubiquitous; highest levels in testes, heart and skeletal muscle.
Pathway. Protein modification; protein ubiquitination.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H0C5-1 | 1 | yes |
| Q9H0C5-2 | 2 |
RefSeq proteins (2): NP_001011885, NP_079514* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR011705 | BACK | Domain |
| IPR012983 | PHR | Domain |
| IPR038648 | PHR_sf | Homologous_superfamily |
Pfam: PF00651, PF07707, PF08005
UniProt features (12 total): sequence conflict 3, domain 2, compositionally biased region 2, splice variant 2, chain 1, region of interest 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H0C5-F1 | 87.99 | 0.75 |
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 (1): 79
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-8951664 | Neddylation |
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 182 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GOBP_REGULATION_OF_PROTEIN_BINDING, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GOBP_NEUROGENESIS, STAT3_01, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, ACTTTAT_MIR1425P, MARKEY_RB1_ACUTE_LOF_UP, DANG_BOUND_BY_MYC, HOWLIN_CITED1_TARGETS_1_DN
GO Biological Process (5): muscle organ development (GO:0007517), protein ubiquitination (GO:0016567), neurogenesis (GO:0022008), regulation of protein binding (GO:0043393), cell differentiation (GO:0030154)
GO Molecular Function (3): identical protein binding (GO:0042802), cullin family protein binding (GO:0097602), protein binding (GO:0005515)
GO Cellular Component (6): P-body (GO:0000932), nucleoplasm (GO:0005654), cytosol (GO:0005829), protein-containing complex (GO:0032991), cytoplasmic ribonucleoprotein granule (GO:0036464), cytoplasm (GO:0005737)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Class I MHC mediated antigen processing & presentation | 1 |
| Immune System | 1 |
| Metabolism of proteins | 1 |
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| protein binding | 3 |
| cellular anatomical structure | 3 |
| cytoplasm | 2 |
| animal organ development | 1 |
| muscle structure development | 1 |
| protein modification by small protein conjugation | 1 |
| nervous system development | 1 |
| cell differentiation | 1 |
| regulation of binding | 1 |
| cellular developmental process | 1 |
| binding | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| nuclear lumen | 1 |
| cellular_component | 1 |
| ribonucleoprotein granule | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
778 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BTBD1 | TRIM5 | Q9C035 | 903 |
| BTBD1 | TOP1 | P11387 | 823 |
| BTBD1 | UBE2D2 | P51669 | 589 |
| BTBD1 | TRIM34 | Q9BYJ4 | 494 |
| BTBD1 | TRIM6 | Q9C030 | 492 |
| BTBD1 | LRR1 | Q96L50 | 479 |
| BTBD1 | TRIM22 | Q8IYM9 | 429 |
| BTBD1 | C15orf40 | Q8WUR7 | 428 |
| BTBD1 | AP3B2 | Q13367 | 427 |
| BTBD1 | PPP1R26 | Q5T8A7 | 419 |
| BTBD1 | TRAT1 | Q6PIZ9 | 412 |
| BTBD1 | GPR152 | Q8TDT2 | 412 |
| BTBD1 | PAN3 | Q58A45 | 397 |
| BTBD1 | NACC2 | Q96BF6 | 379 |
| BTBD1 | PTRH1 | Q86Y79 | 374 |
IntAct
197 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CUL3 | KLHL12 | psi-mi:“MI:0914”(association) | 0.920 |
| COPS5 | COPS2 | psi-mi:“MI:0914”(association) | 0.910 |
| PNMA1 | ZCCHC12 | psi-mi:“MI:0914”(association) | 0.890 |
| CUL3 | BTBD1 | psi-mi:“MI:0915”(physical association) | 0.880 |
| COPS2 | GPS1 | psi-mi:“MI:0914”(association) | 0.860 |
| COPS8 | COPS2 | psi-mi:“MI:0914”(association) | 0.850 |
| NHERF2 | PODXL | psi-mi:“MI:0914”(association) | 0.770 |
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
| NTAQ1 | BTBD1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| EIF4EBP1 | EIF4E1B | psi-mi:“MI:0914”(association) | 0.670 |
| FXR2 | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.640 |
| FAM98A | HERC2 | psi-mi:“MI:0914”(association) | 0.640 |
| CARNMT1 | NUP42 | psi-mi:“MI:0914”(association) | 0.640 |
| GLMN | FKBP5 | psi-mi:“MI:0914”(association) | 0.640 |
| ZNF414 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.640 |
| OTUD6B | BTBD1 | psi-mi:“MI:0915”(physical association) | 0.620 |
| BTBD1 | BTBD2 | psi-mi:“MI:0403”(colocalization) | 0.620 |
| BTBD2 | BTBD1 | psi-mi:“MI:0403”(colocalization) | 0.620 |
| HSP90AA1 | BTBD1 | psi-mi:“MI:0915”(physical association) | 0.610 |
| MPP3 | BTBD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PSMD5 | BTBD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (189): BTBD1 (Affinity Capture-Western), BTBD1 (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), BTBD1 (Affinity Capture-MS)
ESM2 similar proteins: A2TF48, A5HNF6, A8QMS7, B3SRQ2, B3Y678, B3Y679, B3Y680, B3Y681, B3Y682, B3Y683, B6CJX2, C8BKC7, D3ZUM2, F1QWA8, I3L5V6, O02697, O88879, P0CI65, P22366, P48736, P52735, P58544, Q00653, Q13158, Q1M161, Q28DJ2, Q3V3E1, Q4LBC6, Q599T9, Q5FWM2, Q5XJ85, Q60992, Q61160, Q645M6, Q6AZT7, Q6PDS3, Q6SZW1, Q6Y1S1, Q7TNH6, Q7Z494
Diamond homologs: A0JMG1, A1YEX3, B0WWP2, B3DIV9, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, B7U179, D3Z8N4, D4A2K4, E0CZ16, E7F6F9, F1LZF0, F1MBP6, O14682, O22286, O35709, O43791, O81432, O95198, P0DMR5, P0DMR6, P24278, P28575, P34568, P58544, P58545, Q08DK3, Q08DS0, Q0D2A9, Q0IHH9, Q0VCW1, Q16RL8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 183 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 |
|---|---|---|---|
| DNA Damage Recognition in GG-NER | 10 | 25.5× | 3e-09 |
| Formation of TC-NER Pre-Incision Complex | 9 | 17.0× | 9e-07 |
| Cargo recognition for clathrin-mediated endocytosis | 10 | 9.3× | 2e-05 |
| Neddylation | 15 | 6.3× | 3e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of protein neddylation | 8 | 47.1× | 1e-09 |
| protein neddylation | 8 | 35.3× | 1e-08 |
| TOR signaling | 5 | 24.1× | 4e-04 |
| intrinsic apoptotic signaling pathway | 5 | 11.3× | 1e-02 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 13 | 4.3× | 2e-03 |
| protein ubiquitination | 15 | 3.9× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 45 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 2685526 | GRCh37/hg19 15q25.2(chr15:83220107-84811774)x1 | Pathogenic |
SpliceAI
1283 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:83018705:A:AC | donor_gain | 1.0000 |
| 15:83018706:C:CC | donor_gain | 1.0000 |
| 15:83018850:TGAT:T | acceptor_gain | 1.0000 |
| 15:83020761:AT:A | acceptor_gain | 1.0000 |
| 15:83020762:TC:T | acceptor_loss | 1.0000 |
| 15:83020763:C:CA | acceptor_loss | 1.0000 |
| 15:83020763:C:CC | acceptor_gain | 1.0000 |
| 15:83030131:GATA:G | donor_loss | 1.0000 |
| 15:83030132:ATAC:A | donor_loss | 1.0000 |
| 15:83030133:TACCT:T | donor_loss | 1.0000 |
| 15:83030134:ACC:A | donor_loss | 1.0000 |
| 15:83030327:ACC:A | acceptor_loss | 1.0000 |
| 15:83030328:CCTG:C | acceptor_loss | 1.0000 |
| 15:83041722:CCTTA:C | donor_loss | 1.0000 |
| 15:83041723:CTTA:C | donor_loss | 1.0000 |
| 15:83041724:TTAC:T | donor_loss | 1.0000 |
| 15:83041725:TACCT:T | donor_loss | 1.0000 |
| 15:83041726:ACCT:A | donor_loss | 1.0000 |
| 15:83041727:CCTG:C | donor_gain | 1.0000 |
| 15:83041921:TGTAT:T | acceptor_gain | 1.0000 |
| 15:83041922:GTAT:G | acceptor_gain | 1.0000 |
| 15:83041923:TAT:T | acceptor_gain | 1.0000 |
| 15:83041924:AT:A | acceptor_gain | 1.0000 |
| 15:83041925:TCTA:T | acceptor_loss | 1.0000 |
| 15:83041926:C:CC | acceptor_gain | 1.0000 |
| 15:83041926:C:T | acceptor_loss | 1.0000 |
| 15:83041933:C:CT | acceptor_gain | 1.0000 |
| 15:83041934:A:T | acceptor_gain | 1.0000 |
| 15:83050066:AACTT:A | donor_loss | 1.0000 |
| 15:83050067:ACTTA:A | donor_loss | 1.0000 |
AlphaMissense
3136 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:83018094:T:A | Q474H | 1.000 |
| 15:83018094:T:G | Q474H | 1.000 |
| 15:83018098:C:A | G473V | 1.000 |
| 15:83018098:C:T | G473E | 1.000 |
| 15:83018099:C:G | G473R | 1.000 |
| 15:83018099:C:T | G473R | 1.000 |
| 15:83018113:G:A | T468I | 1.000 |
| 15:83018116:C:A | G467V | 1.000 |
| 15:83018116:C:T | G467D | 1.000 |
| 15:83018117:C:A | G467C | 1.000 |
| 15:83018117:C:G | G467R | 1.000 |
| 15:83018117:C:T | G467S | 1.000 |
| 15:83018118:A:C | N466K | 1.000 |
| 15:83018118:A:T | N466K | 1.000 |
| 15:83018119:T:A | N466I | 1.000 |
| 15:83018120:T:C | N466D | 1.000 |
| 15:83018197:C:T | G440E | 1.000 |
| 15:83018198:C:G | G440R | 1.000 |
| 15:83018198:C:T | G440R | 1.000 |
| 15:83018206:C:A | G437V | 1.000 |
| 15:83018206:C:T | G437D | 1.000 |
| 15:83018207:C:G | G437R | 1.000 |
| 15:83018210:A:C | Y436D | 1.000 |
| 15:83018215:G:A | S434F | 1.000 |
| 15:83018215:G:T | S434Y | 1.000 |
| 15:83018216:A:G | S434P | 1.000 |
| 15:83018224:C:T | G431D | 1.000 |
| 15:83018225:C:G | G431R | 1.000 |
| 15:83018723:G:T | A425E | 1.000 |
| 15:83020715:C:A | G368V | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000014226 (15:83063034 A>G), RS1000082086 (15:83027666 C>G,T), RS1000177491 (15:83016348 A>G), RS1000211390 (15:83033942 G>A), RS1000270717 (15:83046234 A>G), RS1000319730 (15:83045887 A>G), RS1000324989 (15:83065578 A>T), RS1000472990 (15:83041479 G>A), RS1000481462 (15:83059455 G>C), RS1000670421 (15:83016149 C>G), RS1000789804 (15:83051587 A>G), RS1000811611 (15:83058124 A>G), RS1000839923 (15:83069038 G>A), RS1000850761 (15:83052971 T>C), RS1000856051 (15:83022025 A>G)
Disease associations
OMIM: gene MIM:608530 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000962_1 | Kawasaki disease | 7.000000e-06 |
| GCST007692_37 | Chronic obstructive pulmonary disease | 8.000000e-09 |
| GCST008058_284 | Estimated glomerular filtration rate | 1.000000e-11 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
10 total (human), top 10 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases methylation, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| jinfukang | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Doxorubicin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Methylmercury Compounds | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B2T4 | Abcam HEK293T BTBD1 KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): chronic obstructive pulmonary disease, Kawasaki disease