BNIP2
gene geneOn this page
Also known as Nip2BNIP-2
Summary
BNIP2 (BCL2 interacting protein 2, HGNC:1083) is a protein-coding gene on chromosome 15q22.2, encoding BCL2/adenovirus E1B 19 kDa protein-interacting protein 2 (Q12982). Implicated in the suppression of cell death. It is a selective cancer dependency (DepMap: 13.6% of cell lines).
This gene is a member of the BCL2/adenovirus E1B 19 kd-interacting protein (BNIP) family. It interacts with the E1B 19 kDa protein, which protects cells from virally-induced cell death. The encoded protein also interacts with E1B 19 kDa-like sequences of BCL2, another apoptotic protector. Alternate splicing results in multiple transcript variants.
Source: NCBI Gene 663 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 77 total
- Cancer dependency (DepMap): dependent in 13.6% of screened cell lines
- MANE Select transcript:
NM_004330
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:1083 |
| Approved symbol | BNIP2 |
| Name | BCL2 interacting protein 2 |
| Location | 15q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | Nip2, BNIP-2 |
| Ensembl gene | ENSG00000140299 |
| Ensembl biotype | protein_coding |
| OMIM | 603292 |
| Entrez | 663 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 16 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000415213, ENST00000417312, ENST00000439052, ENST00000448414, ENST00000464390, ENST00000477543, ENST00000478981, ENST00000557987, ENST00000560458, ENST00000560776, ENST00000607373, ENST00000897496, ENST00000897497, ENST00000897498, ENST00000897499, ENST00000897500, ENST00000897501, ENST00000897502, ENST00000921900, ENST00000921901, ENST00000921902, ENST00000950838, ENST00000950839, ENST00000950840
RefSeq mRNA: 8 — MANE Select: NM_004330
NM_001320674, NM_001320675, NM_001368057, NM_001368058, NM_001368059, NM_001368060, NM_001368061, NM_004330
CCDS: CCDS10174, CCDS92007
Canonical transcript exons
ENST00000607373 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000942317 | 59668892 | 59668990 |
| ENSE00001310367 | 59689135 | 59689320 |
| ENSE00001923041 | 59659146 | 59664120 |
| ENSE00003519912 | 59680241 | 59680308 |
| ENSE00003544056 | 59677911 | 59678087 |
| ENSE00003585164 | 59669276 | 59669362 |
| ENSE00003650054 | 59679592 | 59679768 |
| ENSE00003658559 | 59672637 | 59672739 |
| ENSE00003693141 | 59671183 | 59671314 |
| ENSE00003700903 | 59682408 | 59682514 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 99.03.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 51.6615 / max 1517.2306, expressed in 1823 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 150285 | 51.6615 | 1823 |
Top tissues by expression
296 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| calcaneal tendon | UBERON:0003701 | 99.03 | gold quality |
| monocyte | CL:0000576 | 98.10 | gold quality |
| mononuclear cell | CL:0000842 | 97.90 | gold quality |
| leukocyte | CL:0000738 | 97.74 | gold quality |
| colonic epithelium | UBERON:0000397 | 96.97 | gold quality |
| bone marrow cell | CL:0002092 | 96.76 | gold quality |
| rectum | UBERON:0001052 | 96.52 | gold quality |
| body of pancreas | UBERON:0001150 | 96.24 | gold quality |
| bone marrow | UBERON:0002371 | 95.99 | gold quality |
| minor salivary gland | UBERON:0001830 | 95.43 | gold quality |
| adrenal tissue | UBERON:0018303 | 95.30 | gold quality |
| right uterine tube | UBERON:0001302 | 95.22 | gold quality |
| right lung | UBERON:0002167 | 95.09 | gold quality |
| tendon | UBERON:0000043 | 94.99 | gold quality |
| gall bladder | UBERON:0002110 | 94.91 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 94.46 | gold quality |
| omental fat pad | UBERON:0010414 | 94.44 | gold quality |
| peritoneum | UBERON:0002358 | 94.42 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.41 | gold quality |
| metanephros cortex | UBERON:0010533 | 94.35 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 94.31 | gold quality |
| adipose tissue of abdominal region | UBERON:0007808 | 94.30 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.24 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 94.20 | gold quality |
| vermiform appendix | UBERON:0001154 | 94.16 | gold quality |
| mouth mucosa | UBERON:0003729 | 94.09 | gold quality |
| upper lobe of lung | UBERON:0008948 | 93.99 | gold quality |
| transverse colon | UBERON:0001157 | 93.96 | gold quality |
| thyroid gland | UBERON:0002046 | 93.94 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.92 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
234 targeting BNIP2, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| 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-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-8075 | 99.97 | 67.20 | 962 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 13.6% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 11)
- Transfection of the bnip2 cDNA in neuroblastoma cell line results in massive cell death counteracted by Bcl-2 overexpression; bnip2 is the mediator of the anti-apoptotic activity of estrogens in a variety of cells (PMID:11744098)
- BNIPL-2, a novel homologue of BNIP-2, interacts with Bcl-2 and Cdc42GAP in apoptosis. (PMID:12901880)
- BNIP-2 has a role in regulating cell dynamics with a novel Rho GTPase-activating protein, BPGAP1 (PMID:12944407)
- BNIP-2 in vivo induces cell dynamics by recruiting Cdc42 (PMID:15652341)
- Our results suggest that the caspase-mediated cleavage of BNIP-2 and BNIP-XL could result in the release of the BCH domain or smaller fragments that are crucial for their proapoptotic activities. (PMID:17961507)
- Inhibition of BNIP-2 expression did not affect the susceptibility to NK cell-mediated killing. (PMID:20704564)
- Data imply that SIRT1 may mediate MPP(+)-induced cytotoxicity, possibly through the regulation of BNIP2. (PMID:21130087)
- BNIP-2 directly interacted with the motor and tail domains of KIF5B via its BCH domain. (PMID:25378581)
- BNIP-2 is a kinesin-1 adapter involved in vesicular transportation in the cytoplasm and that association with cargos depends on interaction of the CRAL-TRIO domain with membrane phosphatidylserine. (PMID:25472445)
- BNIP-2 retards breast cancer cell migration by coupling microtubule-mediated GEF-H1 and RhoA activation. (PMID:32789168)
- BNIP-2 Activation of Cellular Contractility Inactivates YAP for H9c2 Cardiomyoblast Differentiation. (PMID:35975420)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | bnip2 | ENSDARG00000013397 |
| mus_musculus | Bnip2 | ENSMUSG00000011958 |
| rattus_norvegicus | Bnip2 | ENSRNOG00000056024 |
| drosophila_melanogaster | CG11593 | FBGN0035488 |
Paralogs (3): PRUNE2 (ENSG00000106772), BNIPL (ENSG00000163141), ATCAY (ENSG00000167654)
Protein
Protein identifiers
BCL2/adenovirus E1B 19 kDa protein-interacting protein 2 — Q12982 (reviewed: Q12982)
All UniProt accessions (3): Q12982, H7C096, H7C142
UniProt curated annotations — full annotation on UniProt →
Function. Implicated in the suppression of cell death. Interacts with the BCL-2 and adenovirus E1B 19 kDa proteins.
Subcellular location. Cytoplasm. Perinuclear region.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q12982-1 | 1 | yes |
| Q12982-2 | 2 |
RefSeq proteins (8): NP_001307603, NP_001307604, NP_001354986, NP_001354987, NP_001354988, NP_001354989, NP_001354990, NP_004321* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001251 | CRAL-TRIO_dom | Domain |
| IPR022181 | Bcl2-/adenovirus-E1B | Family |
| IPR036865 | CRAL-TRIO_dom_sf | Homologous_superfamily |
Pfam: PF12496, PF13716
UniProt features (14 total): modified residue 6, region of interest 2, chain 1, domain 1, splice variant 1, sequence variant 1, sequence conflict 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q12982-F1 | 73.06 | 0.37 |
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): 114, 41, 77, 87, 89, 92
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-525793 | Myogenesis |
| R-HSA-1266738 | Developmental Biology |
MSigDB gene sets: 265 (showing top):
WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, HORIUCHI_WTAP_TARGETS_DN, GNF2_BNIP2, HOFMANN_CELL_LYMPHOMA_UP, GCANCTGNY_MYOD_Q6, GOBP_POSITIVE_REGULATION_OF_NEURON_DIFFERENTIATION, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGULATION_OF_SMALL_GTPASE_MEDIATED_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GENTILE_RESPONSE_CLUSTER_D3, GOBP_NEUROGENESIS, CAGCTG_AP4_Q5, GOCC_MICROTUBULE_ORGANIZING_CENTER
GO Biological Process (9): blastocyst development (GO:0001824), apoptotic process (GO:0006915), centrosome cycle (GO:0007098), negative regulation of apoptotic process (GO:0043066), positive regulation of MAPK cascade (GO:0043410), positive regulation of neuron differentiation (GO:0045666), positive regulation of small GTPase mediated signal transduction (GO:0051057), striated muscle cell differentiation (GO:0051146), response to oxygen-glucose deprivation (GO:0090649)
GO Molecular Function (3): GTPase activator activity (GO:0005096), calcium ion binding (GO:0005509), protein binding (GO:0005515)
GO Cellular Component (8): nuclear envelope (GO:0005635), nucleolus (GO:0005730), cytoplasm (GO:0005737), centriole (GO:0005814), cytosol (GO:0005829), spindle pole centrosome (GO:0031616), intracellular membrane-bounded organelle (GO:0043231), perinuclear region of cytoplasm (GO:0048471)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Developmental Biology | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| positive regulation of intracellular signal transduction | 2 |
| intracellular membraneless organelle | 2 |
| intracellular anatomical structure | 2 |
| cytoplasm | 2 |
| in utero embryonic development | 1 |
| anatomical structure development | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| cell cycle process | 1 |
| microtubule organizing center organization | 1 |
| apoptotic process | 1 |
| regulation of apoptotic process | 1 |
| negative regulation of programmed cell death | 1 |
| MAPK cascade | 1 |
| regulation of MAPK cascade | 1 |
| neuron differentiation | 1 |
| positive regulation of cell differentiation | 1 |
| regulation of neuron differentiation | 1 |
| small GTPase-mediated signal transduction | 1 |
| regulation of small GTPase mediated signal transduction | 1 |
| muscle cell differentiation | 1 |
| response to nutrient levels | 1 |
| response to decreased oxygen levels | 1 |
| GTPase activity | 1 |
| enzyme activator activity | 1 |
| GTPase regulator activity | 1 |
| metal ion binding | 1 |
| binding | 1 |
| nucleus | 1 |
| endomembrane system | 1 |
| organelle envelope | 1 |
| nuclear lumen | 1 |
| microtubule organizing center | 1 |
| spindle pole | 1 |
| centrosome | 1 |
| membrane-bounded organelle | 1 |
| intracellular organelle | 1 |
Protein interactions and networks
STRING
1518 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BNIP2 | BCL2 | P10415 | 955 |
| BNIP2 | BNIP1 | Q12981 | 885 |
| BNIP2 | BNIP3 | Q12983 | 882 |
| BNIP2 | TTPA | P49638 | 736 |
| BNIP2 | ARHGAP1 | Q07960 | 717 |
| BNIP2 | CDC42 | P21181 | 688 |
| BNIP2 | PRR5 | P85299 | 678 |
| BNIP2 | PRUNE1 | Q86TP1 | 632 |
| BNIP2 | NIP7 | Q9Y221 | 506 |
| BNIP2 | CALB1 | P05937 | 504 |
| BNIP2 | APPL1 | Q9UKG1 | 496 |
| BNIP2 | ARHGEF1 | Q92888 | 454 |
| BNIP2 | TAX1BP3 | O14907 | 447 |
| BNIP2 | GEMIN6 | Q8WXD5 | 447 |
| BNIP2 | GCNT3 | O95395 | 437 |
IntAct
163 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FRK | BNIP2 | psi-mi:“MI:0915”(physical association) | 0.830 |
| BNIP2 | FRK | psi-mi:“MI:0915”(physical association) | 0.830 |
| FATE1 | BNIP2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| BNIP2 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| BNIP2 | KLC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MYO5B | BNIP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BNIP2 | MYO5B | psi-mi:“MI:0915”(physical association) | 0.560 |
| BNIP2 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| KLC1 | BNIP2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BNIP2 | SIN3A | psi-mi:“MI:0915”(physical association) | 0.560 |
| BNIP2 | ABHD4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BNIP2 | TMX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BNIP2 | GRAMD2A | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (94): FRK (Two-hybrid), KLC1 (Two-hybrid), MYO5B (Two-hybrid), UPK1B (Two-hybrid), FATE1 (Two-hybrid), BNIP2 (Affinity Capture-RNA), BNIP2 (Affinity Capture-RNA), CREB3 (Two-hybrid), BNIP2 (Two-hybrid), BNIP2 (Two-hybrid), BNIP2 (Proximity Label-MS), BNIP2 (Two-hybrid), ARHGAP1 (FRET), BNIP2 (Affinity Capture-MS), BNIP2 (Two-hybrid)
ESM2 similar proteins: A1L0Y5, A5PJU9, A7T167, B2RR83, P08487, P10686, P19174, P42209, P49846, P56523, P87141, Q03606, Q0IHU9, Q0VC68, Q12982, Q14BI7, Q15019, Q16KN5, Q22307, Q24087, Q292F9, Q29JQ0, Q2NKY7, Q3MHU3, Q4V8H8, Q5BKN4, Q5E9R3, Q5EB96, Q5R746, Q5RA66, Q62077, Q63ZQ1, Q6C2J1, Q6NU25, Q7JUR6, Q8BH64, Q8NDG6, Q8S6N5, Q99719, Q9BGQ3
Diamond homologs: O54940, P85298, Q07960, Q0IHU9, Q12982, Q1M168, Q52KR3, Q54TH9, Q55AR6, Q5BJR4, Q5FWK3, Q5R4Q8, Q7Z465, Q86WG3, Q8BHE3, Q8WUY3, Q99JU7, Q9CXP4, Q9GKT0, Q9VTU3, A4IF90, A6NI28, A7T167, B2RQE8, B2RTY4, B2RWW0, B9VTT2, D3ZFJ3, D3ZZN9, E7EZG2, E7F3F0, F1LQX4, O14014, O43182, O54834, O94988, P34288, P35688, P42331, P55194
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| BNIP2 | “up-regulates activity” | CDC42 | binding |
| CDON | “up-regulates activity” | BNIP2 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 64 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1525 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:59664119:CT:C | acceptor_gain | 1.0000 |
| 15:59664121:C:CC | acceptor_gain | 1.0000 |
| 15:59664137:A:C | acceptor_gain | 1.0000 |
| 15:59668890:A:AC | donor_gain | 1.0000 |
| 15:59668891:C:CT | donor_gain | 1.0000 |
| 15:59668891:CTG:C | donor_gain | 1.0000 |
| 15:59668891:CTGTT:C | donor_gain | 1.0000 |
| 15:59671208:T:A | donor_gain | 1.0000 |
| 15:59672629:ATAC:A | donor_loss | 1.0000 |
| 15:59672630:TACTT:T | donor_loss | 1.0000 |
| 15:59672631:ACT:A | donor_loss | 1.0000 |
| 15:59672632:CTTAC:C | donor_loss | 1.0000 |
| 15:59672633:TT:T | donor_loss | 1.0000 |
| 15:59672634:TACTT:T | donor_loss | 1.0000 |
| 15:59672635:A:AC | donor_gain | 1.0000 |
| 15:59672635:ACTT:A | donor_loss | 1.0000 |
| 15:59672636:C:A | donor_loss | 1.0000 |
| 15:59672636:C:CC | donor_gain | 1.0000 |
| 15:59672636:CTT:C | donor_gain | 1.0000 |
| 15:59672736:TATC:T | acceptor_gain | 1.0000 |
| 15:59672737:ATCCT:A | acceptor_loss | 1.0000 |
| 15:59672738:TC:T | acceptor_gain | 1.0000 |
| 15:59672738:TCCTA:T | acceptor_loss | 1.0000 |
| 15:59672739:CC:C | acceptor_gain | 1.0000 |
| 15:59672739:CCTA:C | acceptor_loss | 1.0000 |
| 15:59672740:C:CA | acceptor_loss | 1.0000 |
| 15:59672740:C:CC | acceptor_gain | 1.0000 |
| 15:59672741:T:C | acceptor_loss | 1.0000 |
| 15:59677909:AC:A | donor_gain | 1.0000 |
| 15:59677909:ACCC:A | donor_gain | 1.0000 |
AlphaMissense
2084 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:59668943:A:G | L281P | 1.000 |
| 15:59668973:T:A | K271I | 1.000 |
| 15:59668981:G:C | F268L | 1.000 |
| 15:59668981:G:T | F268L | 1.000 |
| 15:59668982:A:G | F268S | 1.000 |
| 15:59668983:A:G | F268L | 1.000 |
| 15:59669294:A:T | V259D | 1.000 |
| 15:59669333:A:T | I246N | 1.000 |
| 15:59669339:A:G | L244P | 1.000 |
| 15:59669348:A:G | L241P | 1.000 |
| 15:59669353:T:A | K239N | 1.000 |
| 15:59669353:T:G | K239N | 1.000 |
| 15:59669354:T:A | K239I | 1.000 |
| 15:59671215:C:A | W225C | 1.000 |
| 15:59671215:C:G | W225C | 1.000 |
| 15:59671217:A:G | W225R | 1.000 |
| 15:59671217:A:T | W225R | 1.000 |
| 15:59671264:A:T | V209D | 1.000 |
| 15:59672643:A:G | L190P | 1.000 |
| 15:59672685:G:T | P176H | 1.000 |
| 15:59668972:T:A | K271N | 0.999 |
| 15:59668972:T:G | K271N | 0.999 |
| 15:59668974:T:C | K271E | 0.999 |
| 15:59668982:A:C | F268C | 0.999 |
| 15:59668984:T:A | K267N | 0.999 |
| 15:59668984:T:G | K267N | 0.999 |
| 15:59668985:T:A | K267I | 0.999 |
| 15:59668986:T:C | K267E | 0.999 |
| 15:59669279:A:T | I264N | 0.999 |
| 15:59669282:A:G | F263S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000015947 (15:59687688 C>T), RS1000030061 (15:59666425 G>C,T), RS1000066852 (15:59678209 A>C,T), RS1000219851 (15:59685447 G>A,C), RS1000409896 (15:59675977 A>T), RS1000439350 (15:59681189 C>T), RS1000643456 (15:59662200 C>G), RS1000733460 (15:59689536 C>G,T), RS1000819003 (15:59672839 T>C), RS1001294641 (15:59683111 T>C), RS1001376824 (15:59688132 G>A), RS1001433762 (15:59668045 T>A,C), RS1001480413 (15:59687715 C>G,T), RS1001620568 (15:59675437 T>C), RS1001719413 (15:59665165 G>C)
Disease associations
OMIM: gene MIM:603292 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003875_16 | Gut microbiota (bacterial taxa) | 4.000000e-11 |
| GCST003875_17 | Gut microbiota (bacterial taxa) | 4.000000e-11 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007874 | gut microbiome measurement |
| EFO:0007883 | taxonomic microbiome measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Resveratrol | affects cotreatment, increases expression | 2 |
| Estradiol | affects expression, decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| VX-agent | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| casticin | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | decreases expression | 1 |
| brevetoxin 2 | decreases expression | 1 |
| PCI 5002 | increases expression, affects cotreatment | 1 |
| Sunitinib | increases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Leflunomide | increases expression | 1 |
| Bexarotene | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arbutin | increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Caffeine | increases phosphorylation | 1 |
| Capsaicin | increases expression | 1 |
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.