BOD1L1
gene geneOn this page
Also known as FLJ33215KIAA1327
Summary
BOD1L1 (biorientation of chromosomes in cell division 1 like 1, HGNC:31792) is a protein-coding gene on chromosome 4p15.33, encoding Biorientation of chromosomes in cell division protein 1-like 1 (Q8NFC6). Component of the fork protection machinery required to protect stalled/damaged replication forks from uncontrolled DNA2-dependent resection.
Involved in DNA damage response and replication fork processing. Located in nucleoplasm. Part of Set1C/COMPASS complex.
Source: NCBI Gene 259282 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 491 total — 1 likely-pathogenic
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_148894
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:31792 |
| Approved symbol | BOD1L1 |
| Name | biorientation of chromosomes in cell division 1 like 1 |
| Location | 4p15.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ33215, KIAA1327 |
| Ensembl gene | ENSG00000038219 |
| Ensembl biotype | protein_coding |
| OMIM | 616746 |
| Entrez | 259282 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 4 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay
ENST00000040738, ENST00000482713, ENST00000505343, ENST00000507943, ENST00000509897, ENST00000511119, ENST00000927661, ENST00000927662
RefSeq mRNA: 1 — MANE Select: NM_148894
NM_148894
CCDS: CCDS3411
Canonical transcript exons
ENST00000040738 — 26 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000432286 | 13595860 | 13595944 |
| ENSE00000704789 | 13577582 | 13577631 |
| ENSE00000704845 | 13579928 | 13579973 |
| ENSE00000704905 | 13581020 | 13581054 |
| ENSE00000705080 | 13591923 | 13591966 |
| ENSE00000705082 | 13597104 | 13597168 |
| ENSE00000816722 | 13581132 | 13581207 |
| ENSE00001035646 | 13582237 | 13582310 |
| ENSE00001193549 | 13568738 | 13570128 |
| ENSE00001655701 | 13607117 | 13607189 |
| ENSE00001696141 | 13608530 | 13608668 |
| ENSE00001728858 | 13613512 | 13613661 |
| ENSE00001749326 | 13609295 | 13609406 |
| ENSE00001769699 | 13610934 | 13611100 |
| ENSE00001796707 | 13598946 | 13605084 |
| ENSE00001909770 | 13627345 | 13627725 |
| ENSE00003479560 | 13619943 | 13620067 |
| ENSE00003499569 | 13588722 | 13588792 |
| ENSE00003586222 | 13615312 | 13615502 |
| ENSE00003588106 | 13582652 | 13582736 |
| ENSE00003595760 | 13614196 | 13614810 |
| ENSE00003599609 | 13577403 | 13577487 |
| ENSE00003620347 | 13586396 | 13586475 |
| ENSE00003626077 | 13590386 | 13590446 |
| ENSE00003684276 | 13576838 | 13576991 |
| ENSE00003687440 | 13587699 | 13587771 |
Expression profiles
Bgee: expression breadth ubiquitous, 262 present calls, max score 96.70.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.7076 / max 1031.2089, expressed in 1816 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 51424 | 26.5663 | 1815 |
| 51423 | 2.1413 | 790 |
Top tissues by expression
263 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 96.70 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 96.48 | gold quality |
| tendon | UBERON:0000043 | 95.23 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.14 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 94.27 | gold quality |
| cerebellar vermis | UBERON:0004720 | 93.61 | gold quality |
| ileal mucosa | UBERON:0000331 | 93.59 | gold quality |
| bone marrow cell | CL:0002092 | 93.31 | gold quality |
| left ovary | UBERON:0002119 | 92.53 | gold quality |
| nerve | UBERON:0001021 | 92.38 | gold quality |
| tibial nerve | UBERON:0001323 | 92.38 | gold quality |
| medial globus pallidus | UBERON:0002477 | 92.22 | gold quality |
| corpus callosum | UBERON:0002336 | 92.14 | gold quality |
| blood | UBERON:0000178 | 92.00 | gold quality |
| right ovary | UBERON:0002118 | 91.93 | gold quality |
| mucosa of stomach | UBERON:0001199 | 91.70 | gold quality |
| cerebellar cortex | UBERON:0002129 | 91.66 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 91.64 | gold quality |
| monocyte | CL:0000576 | 91.59 | gold quality |
| cerebellum | UBERON:0002037 | 91.41 | gold quality |
| bone marrow | UBERON:0002371 | 91.40 | gold quality |
| tibialis anterior | UBERON:0001385 | 91.36 | gold quality |
| leukocyte | CL:0000738 | 91.33 | gold quality |
| body of uterus | UBERON:0009853 | 91.33 | gold quality |
| spleen | UBERON:0002106 | 91.28 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 91.26 | gold quality |
| globus pallidus | UBERON:0001875 | 91.02 | gold quality |
| ovary | UBERON:0000992 | 90.97 | gold quality |
| colonic epithelium | UBERON:0000397 | 90.96 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 90.88 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.17 |
| E-MTAB-7606 | no | 539.73 |
| E-MTAB-6075 | no | 511.74 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
166 targeting BOD1L1, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-9-3P | 99.96 | 70.88 | 2068 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
Literature-anchored findings (GeneRIF, showing 3)
- Results show that BOD1L protects against severe genome instability caused by replication stress; it maintains fork stability by stabilizing RAD51 nucleofilaments. (PMID:26166705)
- Protection or resection: BOD1L as a novel replication fork protection factor. (PMID:26889944)
- BOD1L mediates chromatin binding and non-canonical function of H3K4 methyltransferase SETD1A. (PMID:38989615)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bod1l1 | ENSDARG00000089505 |
| mus_musculus | Bod1l | ENSMUSG00000061755 |
| rattus_norvegicus | Bod1l1 | ENSRNOG00000050437 |
Paralogs (2): BOD1 (ENSG00000145919), BOD1L2 (ENSG00000228075)
Protein
Protein identifiers
Biorientation of chromosomes in cell division protein 1-like 1 — Q8NFC6 (reviewed: Q8NFC6)
All UniProt accessions (3): F8WDD0, H0Y9Y2, Q8NFC6
UniProt curated annotations — full annotation on UniProt →
Function. Component of the fork protection machinery required to protect stalled/damaged replication forks from uncontrolled DNA2-dependent resection. Acts by stabilizing RAD51 at stalled replication forks and protecting RAD51 nucleofilaments from the antirecombinogenic activities of FBH1 and BLM. Does not regulate spindle orientation.
Subunit / interactions. Interacts (via COMPASS-Shg1 domain) with SETD1A at stalled replication forks; this interaction mediates FANCD2-dependent nucleosome remodeling at reversed forks protecting them from nucleolytic degradation.
Subcellular location. Chromosome.
Similarity. Belongs to the BOD1 family.
RefSeq proteins (1): NP_683692* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR043244 | BOD1L1 | Family |
| IPR055264 | BOD1/SHG1_dom | Domain |
Pfam: PF05205
UniProt features (100 total): compositionally biased region 35, modified residue 31, region of interest 15, sequence variant 10, sequence conflict 5, cross-link 2, chain 1, DNA-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for Q8NFC6 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
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 (33): 266, 473, 482, 484, 635, 659, 660, 733, 1077, 1145, 1318, 1354, 1531, 1701, 1710, 2013, 2025, 2128, 2203, 2475 …
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-9772755 | Formation of WDR5-containing histone-modifying complexes |
| R-HSA-212165 | Epigenetic regulation of gene expression |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-9917777 | Epigenetic regulation by WDR5-containing histone modifying complexes |
MSigDB gene sets: 155 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, GOBP_DNA_TEMPLATED_DNA_REPLICATION_MAINTENANCE_OF_FIDELITY, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, BERENJENO_ROCK_SIGNALING_NOT_VIA_RHOA_DN, GCM_GSPT1, GCM_BCL2L1, KINSEY_TARGETS_OF_EWSR1_FLII_FUSION_DN, MODULE_480, GOBP_DNA_DAMAGE_RESPONSE, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GCM_NF2, BURTON_ADIPOGENESIS_12, CHANDRAN_METASTASIS_UP, GOBP_DNA_REPLICATION, MODULE_427
GO Biological Process (3): DNA repair (GO:0006281), DNA damage response (GO:0006974), replication fork processing (GO:0031297)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): nucleoplasm (GO:0005654), chromosome (GO:0005694), Set1C/COMPASS complex (GO:0048188)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Epigenetic regulation by WDR5-containing histone modifying complexes | 1 |
| Gene expression (Transcription) | 1 |
| Epigenetic regulation of gene expression | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| cellular response to stress | 1 |
| DNA-templated DNA replication maintenance of fidelity | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| histone methyltransferase complex | 1 |
Protein interactions and networks
STRING
1316 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BOD1L1 | ABRAXAS2 | Q15018 | 668 |
| BOD1L1 | BRCA2 | P51587 | 658 |
| BOD1L1 | DNA2 | P51530 | 650 |
| BOD1L1 | RADX | Q6NSI4 | 623 |
| BOD1L1 | PAXIP1 | Q6ZW49 | 603 |
| BOD1L1 | FBH1 | Q8NFZ0 | 603 |
| BOD1L1 | ZRANB3 | Q5FWF4 | 602 |
| BOD1L1 | WRNIP1 | Q96S55 | 598 |
| BOD1L1 | SETD1A | O15047 | 594 |
| BOD1L1 | SMARCAL1 | Q9NZC9 | 592 |
| BOD1L1 | EXO1 | Q9UQ84 | 511 |
| BOD1L1 | HLTF | Q14527 | 507 |
| BOD1L1 | C1orf159 | Q96HA4 | 498 |
| BOD1L1 | FANCD2 | Q9BXW9 | 481 |
| BOD1L1 | SSH2 | Q76I76 | 471 |
IntAct
76 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| WDR5 | KMT2D | psi-mi:“MI:0914”(association) | 0.910 |
| ASH2L | KMT2D | psi-mi:“MI:0914”(association) | 0.890 |
| RBBP5 | KMT2D | psi-mi:“MI:0914”(association) | 0.840 |
| NUP50 | KPNA4 | psi-mi:“MI:0914”(association) | 0.830 |
| NUP50 | KPNA3 | psi-mi:“MI:0914”(association) | 0.780 |
| BOD1L1 | WDR5 | psi-mi:“MI:0915”(physical association) | 0.770 |
| CXXC1 | SETD1A | psi-mi:“MI:0914”(association) | 0.760 |
| WDR5 | MEN1 | psi-mi:“MI:0914”(association) | 0.710 |
| YWHAG | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| KPNA1 | TCERG1 | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| MDK | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| HCFC2 | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L3 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| EPB41L5 | SETD1A | psi-mi:“MI:0914”(association) | 0.530 |
| Nf2 | BOD1L1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| BOD1L1 | CNPY3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DLEC1 | BOD1L1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| H1-2 | BOD1L1 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (202): BOD1L1 (Affinity Capture-MS), BOD1L1 (Affinity Capture-MS), BOD1L1 (Affinity Capture-MS), MYL6 (Affinity Capture-MS), NCBP1 (Affinity Capture-MS), RBBP5 (Affinity Capture-MS), TAF6 (Affinity Capture-MS), SEMA3B (Affinity Capture-MS), MKNK1 (Affinity Capture-MS), AKR7A2 (Affinity Capture-MS), SETD1A (Affinity Capture-MS), KEAP1 (Affinity Capture-MS), TACC3 (Affinity Capture-MS), SKIV2L2 (Affinity Capture-MS), TRIM29 (Affinity Capture-MS)
ESM2 similar proteins: A2A6A1, A8MW92, B5DE93, D2H526, E1BB50, E9Q309, E9Q4F7, E9Q6J5, F1QBY1, O14513, O60284, P30414, P30415, P31629, Q01538, Q14AX6, Q17QQ9, Q3KPW4, Q3MJK5, Q498L0, Q499E5, Q4V9H5, Q5R6I3, Q5SW79, Q5VT06, Q6A065, Q6P9P0, Q6PCB5, Q6UB98, Q6UB99, Q80TY4, Q80YR5, Q86V48, Q8BLG0, Q8BYK8, Q8C5W0, Q8CCJ9, Q8CFC2, Q8IX21, Q8NFC6
Diamond homologs: E9Q6J5, Q5SQY2, Q68FB1, Q6AYJ2, Q6DFL2, Q8IYS8, Q8NFC6, Q96IK1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 83 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 |
|---|---|---|---|
| Formation of WDR5-containing histone-modifying complexes | 11 | 48.7× | 7e-14 |
| NS1 Mediated Effects on Host Pathways | 5 | 23.8× | 2e-04 |
| Deactivation of the beta-catenin transactivating complex | 6 | 23.3× | 3e-05 |
| Epigenetic regulation of gene expression by MLL3 and MLL4 complexes | 5 | 16.4× | 9e-04 |
| Influenza Infection | 5 | 14.6× | 1e-03 |
| SARS-CoV-1-host interactions | 5 | 14.6× | 1e-03 |
| PKMTs methylate histone lysines | 5 | 13.4× | 2e-03 |
| Epigenetic regulation by WDR5-containing histone modifying complexes | 5 | 12.9× | 2e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein import into nucleus | 7 | 13.8× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
491 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 413 |
| Likely benign | 40 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 814529 | GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 | Likely pathogenic |
SpliceAI
3956 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:13576987:GGATT:G | acceptor_gain | 1.0000 |
| 4:13576988:GATT:G | acceptor_gain | 1.0000 |
| 4:13576989:ATT:A | acceptor_gain | 1.0000 |
| 4:13576990:TT:T | acceptor_gain | 1.0000 |
| 4:13576991:TC:T | acceptor_loss | 1.0000 |
| 4:13576992:C:CA | acceptor_loss | 1.0000 |
| 4:13576992:C:CC | acceptor_gain | 1.0000 |
| 4:13577398:CATA:C | donor_loss | 1.0000 |
| 4:13577399:ATAC:A | donor_loss | 1.0000 |
| 4:13577400:TACCA:T | donor_loss | 1.0000 |
| 4:13577401:A:AC | donor_gain | 1.0000 |
| 4:13577401:A:AT | donor_loss | 1.0000 |
| 4:13577401:ACCAG:A | donor_gain | 1.0000 |
| 4:13577402:C:CA | donor_gain | 1.0000 |
| 4:13577402:CCAG:C | donor_gain | 1.0000 |
| 4:13577402:CCAGC:C | donor_gain | 1.0000 |
| 4:13577443:T:TA | donor_gain | 1.0000 |
| 4:13577483:TCATC:T | acceptor_gain | 1.0000 |
| 4:13577484:CATC:C | acceptor_gain | 1.0000 |
| 4:13577484:CATCC:C | acceptor_gain | 1.0000 |
| 4:13577485:ATC:A | acceptor_gain | 1.0000 |
| 4:13577486:TC:T | acceptor_gain | 1.0000 |
| 4:13577486:TCCTA:T | acceptor_loss | 1.0000 |
| 4:13577487:CC:C | acceptor_gain | 1.0000 |
| 4:13577488:C:CC | acceptor_gain | 1.0000 |
| 4:13577495:C:CT | acceptor_gain | 1.0000 |
| 4:13577496:A:T | acceptor_gain | 1.0000 |
| 4:13577497:A:AC | acceptor_gain | 1.0000 |
| 4:13577497:A:C | acceptor_gain | 1.0000 |
| 4:13577580:A:AC | donor_gain | 1.0000 |
AlphaMissense
20252 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:13613609:G:C | S409R | 1.000 |
| 4:13613609:G:T | S409R | 1.000 |
| 4:13613611:T:G | S409R | 1.000 |
| 4:13614747:A:T | I208K | 1.000 |
| 4:13614759:A:T | I204K | 1.000 |
| 4:13615397:A:C | F158L | 1.000 |
| 4:13615397:A:T | F158L | 1.000 |
| 4:13615398:A:G | F158S | 1.000 |
| 4:13615399:A:G | F158L | 1.000 |
| 4:13615411:C:G | A154P | 1.000 |
| 4:13615419:A:T | V151E | 1.000 |
| 4:13615430:G:C | F147L | 1.000 |
| 4:13615430:G:T | F147L | 1.000 |
| 4:13615431:A:C | F147C | 1.000 |
| 4:13615431:A:G | F147S | 1.000 |
| 4:13615432:A:G | F147L | 1.000 |
| 4:13615445:C:A | K142N | 1.000 |
| 4:13615445:C:G | K142N | 1.000 |
| 4:13615458:A:T | V138D | 1.000 |
| 4:13615461:T:G | Q137P | 1.000 |
| 4:13615467:A:T | I135N | 1.000 |
| 4:13615470:A:C | I134S | 1.000 |
| 4:13615470:A:G | I134T | 1.000 |
| 4:13615470:A:T | I134N | 1.000 |
| 4:13615471:T:A | I134F | 1.000 |
| 4:13615473:C:G | R133P | 1.000 |
| 4:13615482:C:T | G130D | 1.000 |
| 4:13615483:C:G | G130R | 1.000 |
| 4:13615491:A:G | L127S | 1.000 |
| 4:13619949:A:T | V121D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000016956 (4:13628886 A>T), RS1000097589 (4:13581994 C>T), RS1000126836 (4:13623291 T>C), RS1000153971 (4:13604422 TTTG>T), RS10001811 (4:13568528 T>A,C), RS1000254429 (4:13608752 A>G), RS1000378969 (4:13597748 T>C), RS1000404587 (4:13601581 G>A), RS1000436363 (4:13623064 C>T), RS1000503121 (4:13584268 T>A), RS10005265 (4:13575941 A>C,T), RS10005546 (4:13579052 C>A,T), RS1000602163 (4:13595628 G>A,T), RS1000606060 (4:13577132 C>G,T), RS1000659367 (4:13621830 C>T)
Disease associations
OMIM: gene MIM:616746 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002312_4 | Periodontal disease-related phenotype (Socransky) | 1.000000e-06 |
| GCST002312_7 | Periodontal disease-related phenotype (Socransky) | 4.000000e-06 |
| GCST003441_1 | Response to paclitaxel in ovarian cancer (MTT IC50) | 2.000000e-07 |
| GCST004793_2 | Amyotrophic lateral sclerosis in C9orf72 mutation negative individuals | 2.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006952 | cytotoxicity measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5724770 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL1232461 | MOLIBRESIB | 2 | 1,538 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 7.19 | Kd | 65 | nM | MOLIBRESIB |
| 7.16 | IC50 | 70 | nM | MOLIBRESIB |
PubChem BioAssay actives
2 with measured affinity, of 7 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide | 2179246: Binding affinity against FAM44A (unknown origin) assessed as apparent dissociation constant incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | kd | 0.0650 | uM |
CTD chemical–gene interactions
33 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression, affects cotreatment | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| geldanamycin | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| methylparaben | increases expression | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| coumarin | affects phosphorylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | decreases expression, affects cotreatment | 1 |
| Irinotecan | decreases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance, affects cotreatment | 1 |
| Caffeine | affects phosphorylation | 1 |
| Cisplatin | decreases expression | 1 |
| Clorgyline | increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases phosphorylation, affects phosphorylation, affects response to substance | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Ribonucleotides | affects binding | 1 |
| Thimerosal | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Toluene | increases expression | 1 |
| Valproic Acid | increases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
ChEMBL screening assays
7 unique, capped per target: 7 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697788 | Binding | Inhibition of FAM44A (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
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.