BCL2L14
gene geneOn this page
Also known as BCLGBCL-G
Summary
BCL2L14 (BCL2 like 14, HGNC:16657) is a protein-coding gene on chromosome 12p13.2, encoding Apoptosis facilitator Bcl-2-like protein 14 (Q9BZR8). Plays a role in apoptosis.
The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. Overexpression of this gene has been shown to induce apoptosis in cells. Three alternatively spliced transcript variants encoding two distinct isoforms have been reported for this gene.
Source: NCBI Gene 79370 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 52 total
- MANE Select transcript:
NM_138723
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16657 |
| Approved symbol | BCL2L14 |
| Name | BCL2 like 14 |
| Location | 12p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | BCLG, BCL-G |
| Ensembl gene | ENSG00000121380 |
| Ensembl biotype | protein_coding |
| OMIM | 606126 |
| Entrez | 79370 |
Gene structure
Transcript identifiers
Ensembl transcripts: 23 — 17 protein_coding, 5 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000266434, ENST00000298566, ENST00000308721, ENST00000396367, ENST00000461264, ENST00000464885, ENST00000466531, ENST00000479717, ENST00000484949, ENST00000545463, ENST00000586576, ENST00000588270, ENST00000589718, ENST00000591235, ENST00000864816, ENST00000864818, ENST00000864819, ENST00000864821, ENST00000864823, ENST00000864825, ENST00000864827, ENST00000955330, ENST00000955331
RefSeq mRNA: 5 — MANE Select: NM_138723
NM_001370268, NM_001370269, NM_030766, NM_138722, NM_138723
CCDS: CCDS8645, CCDS8646
Canonical transcript exons
ENST00000308721 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000822019 | 12087213 | 12087386 |
| ENSE00000822020 | 12090779 | 12090849 |
| ENSE00001346602 | 12094664 | 12094930 |
| ENSE00001812597 | 12070939 | 12071137 |
| ENSE00003475500 | 12098950 | 12099695 |
| ENSE00003557359 | 12079299 | 12079738 |
Expression profiles
Bgee: expression breadth ubiquitous, 128 present calls, max score 93.67.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5318 / max 60.5576, expressed in 145 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 124290 | 0.2604 | 81 |
| 124292 | 0.1261 | 65 |
| 124289 | 0.0573 | 21 |
| 124287 | 0.0416 | 3 |
| 124291 | 0.0317 | 13 |
| 124286 | 0.0065 | 3 |
| 124288 | 0.0045 | 3 |
| 206627 | 0.0036 | 2 |
Top tissues by expression
132 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| rectum | UBERON:0001052 | 93.67 | gold quality |
| duodenum | UBERON:0002114 | 91.45 | gold quality |
| left testis | UBERON:0004533 | 89.18 | gold quality |
| right testis | UBERON:0004534 | 89.13 | gold quality |
| testis | UBERON:0000473 | 88.69 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 87.70 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.74 | gold quality |
| colonic epithelium | UBERON:0000397 | 81.61 | gold quality |
| transverse colon | UBERON:0001157 | 79.20 | gold quality |
| small intestine | UBERON:0002108 | 78.54 | gold quality |
| body of pancreas | UBERON:0001150 | 78.05 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 77.71 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 77.46 | gold quality |
| vermiform appendix | UBERON:0001154 | 77.26 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 75.84 | gold quality |
| stomach | UBERON:0000945 | 74.57 | gold quality |
| body of stomach | UBERON:0001161 | 74.44 | gold quality |
| pancreas | UBERON:0001264 | 74.40 | gold quality |
| gall bladder | UBERON:0002110 | 73.73 | gold quality |
| intestine | UBERON:0000160 | 71.40 | gold quality |
| lymph node | UBERON:0000029 | 68.58 | gold quality |
| colon | UBERON:0001155 | 67.91 | gold quality |
| islet of Langerhans | UBERON:0000006 | 67.13 | gold quality |
| tonsil | UBERON:0002372 | 65.92 | gold quality |
| fundus of stomach | UBERON:0001160 | 65.78 | gold quality |
| sural nerve | UBERON:0015488 | 63.12 | silver quality |
| urinary bladder | UBERON:0001255 | 62.88 | gold quality |
| prostate gland | UBERON:0002367 | 61.19 | gold quality |
| liver | UBERON:0002107 | 60.83 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 60.69 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7381 | yes | 247.91 |
| E-ANND-3 | no | 2.63 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTCF, STAT1, TP53
miRNA regulators (miRDB)
62 targeting BCL2L14, 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-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-221-3P | 99.86 | 71.56 | 1329 |
| HSA-MIR-222-3P | 99.86 | 71.35 | 1337 |
| HSA-MIR-629-3P | 99.85 | 67.99 | 1875 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-4679 | 99.76 | 69.19 | 1229 |
| HSA-MIR-4645-3P | 99.76 | 69.33 | 993 |
| HSA-MIR-3177-5P | 99.65 | 70.38 | 1174 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-6752-5P | 99.59 | 67.32 | 1243 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-7159-3P | 99.51 | 70.17 | 1920 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-519D-5P | 99.41 | 69.30 | 2057 |
| HSA-MIR-125A-5P | 99.36 | 70.59 | 1640 |
| HSA-MIR-125B-5P | 99.36 | 70.36 | 1662 |
| HSA-MIR-4312 | 99.34 | 67.30 | 511 |
Literature-anchored findings (GeneRIF, showing 14)
- There was no somatic mutation of BH3 domains of Bad, Bmf and Bcl-G genes in transitional cell carcinoma samples. The data presented here indicate that BH3 domain mutation of these genes is rare in TCCs and may not contribute to the pathogenesis of TCCs. (PMID:16484005)
- the kinase activity of MELK is likely to affect mammary carcinogenesis through inhibition of the pro-apoptotic function of Bcl-GL (PMID:17280616)
- data presented here indicate that BH3 domain mutation of the proapoptotic genes Bad, Bmf and Bcl-G is rare in laryngeal squamous cell carcinoma and may not contribute to the apoptosis-resistance mechanisms of laryngeal squamous cell carcinoma (PMID:17557568)
- JAB1 is involved in the regulation of mitochondrial apoptotic pathway through specific interaction with BclGs. (PMID:18006276)
- Increased BclG(L) expression may contribute to the aberrant CD4+ T cell apoptosis which causes an inappropriate immune response and impaired homeostasis in systemic lupus erythematosus. (PMID:19524489)
- siRNA downregulation of Bcl-G inhibited breast cancer cell apoptosis. Adding an siRNA against Fau revealed control of Bcl-G by Fau. The most important factors controlling Bcl-G are post-translational modification by Fau & MELK, not transcription rate. (PMID:19671159)
- prior knockdown of Bcl-G expression ablates the stimulation of basal apoptosis by FAU, consistent with an essential downstream role for Bcl-G, itself a candidate tumour suppressor, in mediating the apoptosis regulatory role of FAU. (PMID:21550398)
- Single nucleotide polymorphism in BCL2L14 is associated with lung cancer. (PMID:22573796)
- Data indicate that LRP6, BCL2L14, DUSP16, CREBL2, and CDKN1B were involed in centromeric (12p11.21-12p13.2) deletion in ETV6-RUNX1 B-cell precursor acute lymphoblastic leukemia (BCP-ALL). (PMID:23077088)
- The results show that BCLG is overexpressed more frequently in medullary breast carcinoma than other histological types of basal like carcinomas. (PMID:30075151)
- BCL2L14 knockdown exhibited similar effects similar to those of miR-496 overexpression, and the restored BCL2L14expression reversed the protective effects of miR-496 on SH-SY5Y cells (PMID:30597231)
- Loss of Bcl-G, a Bcl-2 family member, augments the development of inflammation-associated colorectal cancer. (PMID:31296963)
- Human BCL-G regulates secretion of inflammatory chemokines but is dispensable for induction of apoptosis by IFN-gamma and TNF-alpha in intestinal epithelial cells. (PMID:31988296)
- these data reveal adjacent gene rearrangements as a class of underexplored genetic aberrations that could be pathological in breast cancer, and identify BCL2L14-ETV6 as a recurrent gene fusion in more aggressive form of Triple-negative breast cancer tumor (PMID:32321829)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000090401 | |
| mus_musculus | Bcl2l14 | ENSMUSG00000030200 |
| rattus_norvegicus | Bcl2l14 | ENSRNOG00000028632 |
Paralogs (1): BCL2L12 (ENSG00000126453)
Protein
Protein identifiers
Apoptosis facilitator Bcl-2-like protein 14 — Q9BZR8 (reviewed: Q9BZR8)
Alternative names: Apoptosis regulator Bcl-G
All UniProt accessions (6): A0A140VJF2, C9J3S1, C9K0Q9, Q9BZR8, K7EKK7, K7EMX4
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in apoptosis.
Subcellular location. Cytoplasm Cytoplasm. Cytosol Endomembrane system.
Tissue specificity. Isoform 1 is widely expressed. Isoform 2 is testis-specific.
Post-translational modifications. Phosphorylated by MELK, leading to inhibit its pro-apoptotic function.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the Bcl-2 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BZR8-1 | 1, Bcl-Gl, Long | yes |
| Q9BZR8-2 | 2, Bcl-Gs, Short | |
| Q9BZR8-3 | 3, Median |
RefSeq proteins (5): NP_001357197, NP_001357198, NP_110393, NP_620048, NP_620049* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002475 | Bcl2-like | Family |
| IPR036834 | Bcl-2-like_sf | Homologous_superfamily |
UniProt features (8 total): splice variant 4, short sequence motif 2, chain 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BZR8-F1 | 62.91 | 0.33 |
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): 44
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-6803205 | TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain |
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-3700989 | Transcriptional Regulation by TP53 |
| R-HSA-5633008 | TP53 Regulates Transcription of Cell Death Genes |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
MSigDB gene sets: 158 (showing top):
GSE45365_NK_CELL_VS_BCELL_DN, MODULE_255, MODULE_317, GOBP_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, WANG_RESPONSE_TO_BEXAROTENE_UP, GOBP_APOPTOTIC_SIGNALING_PATHWAY, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM2, GOBP_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, PID_P53_DOWNSTREAM_PATHWAY, GOBP_POSITIVE_REGULATION_OF_EXTRINSIC_APOPTOTIC_SIGNALING_PATHWAY, GOBP_POSITIVE_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY, TGGAAA_NFAT_Q4_01, GOBP_REGULATION_OF_APOPTOTIC_SIGNALING_PATHWAY, MODULE_69, COULOUARN_TEMPORAL_TGFB1_SIGNATURE_UP
GO Biological Process (3): apoptotic process (GO:0006915), regulation of apoptotic process (GO:0042981), positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)
GO Molecular Function (2): protein kinase binding (GO:0019901), protein binding (GO:0005515)
GO Cellular Component (5): cytosol (GO:0005829), endomembrane system (GO:0012505), intracellular organelle (GO:0043229), cytoplasm (GO:0005737), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| TP53 Regulates Transcription of Cell Death Genes | 1 |
| RNA Polymerase II Transcription | 1 |
| Generic Transcription Pathway | 1 |
| Transcriptional Regulation by TP53 | 1 |
| Gene expression (Transcription) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| intracellular anatomical structure | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| apoptotic process | 1 |
| regulation of programmed cell death | 1 |
| extrinsic apoptotic signaling pathway | 1 |
| positive regulation of apoptotic signaling pathway | 1 |
| regulation of extrinsic apoptotic signaling pathway | 1 |
| kinase binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| organelle | 1 |
Protein interactions and networks
STRING
938 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| BCL2L14 | FAU | P35544 | 880 |
| BCL2L14 | BCL2L1 | Q07817 | 695 |
| BCL2L14 | BCL2 | P10415 | 641 |
| BCL2L14 | BCL2L15 | Q5TBC7 | 625 |
| BCL2L14 | BCL2L13 | Q9BXK5 | 595 |
| BCL2L14 | BOK | Q9UMX3 | 587 |
| BCL2L14 | BCL2A1 | Q16548 | 579 |
| BCL2L14 | MANSC1 | Q9H8J5 | 535 |
| BCL2L14 | BCL2L10 | Q9HD36 | 527 |
| BCL2L14 | LRP6 | O75581 | 498 |
| BCL2L14 | HRK | O00198 | 480 |
| BCL2L14 | BCL2L2-PABPN1 | Q92843 | 476 |
| BCL2L14 | AGBL4 | Q5VU57 | 447 |
| BCL2L14 | CASP2 | P42575 | 437 |
| BCL2L14 | CHADL | Q6NUI6 | 427 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MELK | BCL2L14 | psi-mi:“MI:0915”(physical association) | 0.650 |
| BCL2L14 | MELK | psi-mi:“MI:0915”(physical association) | 0.650 |
| MELK | BCL2L14 | psi-mi:“MI:0407”(direct interaction) | 0.650 |
| BCL2L14 | MELK | psi-mi:“MI:0217”(phosphorylation reaction) | 0.650 |
| BCL2L14 | TEPSIN | psi-mi:“MI:0915”(physical association) | 0.560 |
| DDIT4L | BCL2L14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TEPSIN | BCL2L14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BCL2L14 | PICK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BCL2L14 | CHEK1 | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS3BP | BCL2L14 | psi-mi:“MI:0915”(physical association) | 0.500 |
| BCL2L14 | psi-mi:“MI:0915”(physical association) | 0.370 | |
| BCL2L14 | psi-mi:“MI:0914”(association) | 0.350 | |
| BCL2L14 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| BCL2L14 | PICK1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| BCL2L14 | DDIT4L | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (164): TRAPPC10 (Affinity Capture-MS), TRAPPC4 (Affinity Capture-MS), MTA2 (Affinity Capture-MS), C7orf43 (Affinity Capture-MS), PPP2R2D (Affinity Capture-MS), TRAPPC9 (Affinity Capture-MS), TRAPPC6B (Affinity Capture-MS), TRAPPC1 (Affinity Capture-MS), TRAPPC3 (Affinity Capture-MS), TRAPPC5 (Affinity Capture-MS), TRAPPC2L (Affinity Capture-MS), TRAPPC2 (Affinity Capture-MS), CHEK1 (Affinity Capture-MS), VHL (Affinity Capture-MS), C7orf43 (Affinity Capture-MS)
ESM2 similar proteins: A0A1L8GUX5, A0A571BF63, A0A8M9QN10, A1L1K1, A2ARM1, A2AVJ5, A7YDW0, O08576, O60268, P0C6P5, P97433, Q08E29, Q0V9V7, Q0VDN7, Q17QK1, Q2NKQ1, Q2NL11, Q3B7K9, Q3SYZ9, Q4R7B9, Q561Q8, Q59EK9, Q5E9L4, Q5E9R0, Q5EB20, Q5NVC2, Q5PQS0, Q5R565, Q5U3W3, Q5XHG1, Q61194, Q6AYK4, Q6MZQ0, Q6NXJ0, Q6P7D5, Q6PDC0, Q6ZUJ8, Q80ZQ3, Q8BPQ7, Q8N1W1
Diamond homologs: Q5E9L4, Q6AYK4, Q9BZR8, Q9CPT0
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
52 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 44 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5131 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:12124658:AAAAT:A | acceptor_gain | 1.0000 |
| 12:12124659:AAAT:A | acceptor_gain | 1.0000 |
| 12:12124660:AAT:A | acceptor_gain | 1.0000 |
| 12:12124660:AATC:A | acceptor_loss | 1.0000 |
| 12:12124661:AT:A | acceptor_gain | 1.0000 |
| 12:12124661:ATCT:A | acceptor_loss | 1.0000 |
| 12:12124662:TCTAA:T | acceptor_loss | 1.0000 |
| 12:12124663:C:CA | acceptor_loss | 1.0000 |
| 12:12124663:C:CC | acceptor_gain | 1.0000 |
| 12:12125291:CTTA:C | donor_gain | 1.0000 |
| 12:12125292:TTA:T | donor_loss | 1.0000 |
| 12:12125294:A:AC | donor_gain | 1.0000 |
| 12:12125294:ACTG:A | donor_gain | 1.0000 |
| 12:12125295:C:CG | donor_gain | 1.0000 |
| 12:12125295:CT:C | donor_gain | 1.0000 |
| 12:12125295:CTG:C | donor_gain | 1.0000 |
| 12:12125295:CTGC:C | donor_gain | 1.0000 |
| 12:12125295:CTGCA:C | donor_gain | 1.0000 |
| 12:12125428:CATTC:C | acceptor_gain | 1.0000 |
| 12:12125429:ATTC:A | acceptor_gain | 1.0000 |
| 12:12125430:TTC:T | acceptor_gain | 1.0000 |
| 12:12125430:TTCC:T | acceptor_gain | 1.0000 |
| 12:12125431:TC:T | acceptor_gain | 1.0000 |
| 12:12125431:TCCT:T | acceptor_gain | 1.0000 |
| 12:12125432:CC:C | acceptor_gain | 1.0000 |
| 12:12125433:C:CC | acceptor_gain | 1.0000 |
| 12:12125438:A:AC | acceptor_gain | 1.0000 |
| 12:12130777:A:AC | donor_gain | 1.0000 |
| 12:12130778:C:CC | donor_gain | 1.0000 |
| 12:12130778:CTT:C | donor_loss | 1.0000 |
AlphaMissense
2147 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:12094928:T:A | W315R | 0.990 |
| 12:12094928:T:C | W315R | 0.990 |
| 12:12087246:G:C | R156P | 0.989 |
| 12:12094883:T:G | Y300D | 0.988 |
| 12:12094803:C:A | A273D | 0.986 |
| 12:12094887:T:C | L301P | 0.985 |
| 12:12094930:G:C | W315C | 0.985 |
| 12:12094930:G:T | W315C | 0.985 |
| 12:12087240:C:A | A154D | 0.983 |
| 12:12094875:G:A | G297D | 0.983 |
| 12:12094830:T:C | L282P | 0.981 |
| 12:12094871:T:C | F296L | 0.981 |
| 12:12094873:T:A | F296L | 0.981 |
| 12:12094873:T:G | F296L | 0.981 |
| 12:12087261:T:A | V161D | 0.976 |
| 12:12079375:T:C | F24L | 0.975 |
| 12:12079377:C:A | F24L | 0.975 |
| 12:12079377:C:G | F24L | 0.975 |
| 12:12094721:T:C | F246L | 0.975 |
| 12:12094723:C:A | F246L | 0.975 |
| 12:12094723:C:G | F246L | 0.975 |
| 12:12094898:T:C | F305L | 0.975 |
| 12:12094900:C:A | F305L | 0.975 |
| 12:12094900:C:G | F305L | 0.975 |
| 12:12079393:T:G | Y30D | 0.974 |
| 12:12094883:T:C | Y300H | 0.973 |
| 12:12094884:A:C | Y300S | 0.973 |
| 12:12094802:G:C | A273P | 0.972 |
| 12:12094806:T:C | L274P | 0.972 |
| 12:12094812:T:A | I276K | 0.972 |
dbSNP variants (sampled 300 via entrez): RS1000004613 (12:12073953 G>A,C), RS1000030616 (12:12082674 T>G), RS1000042838 (12:12088702 C>T), RS1000054810 (12:12050240 C>A,T), RS1000121685 (12:12085194 G>C), RS1000131958 (12:12048298 T>C), RS1000230812 (12:12085507 G>A), RS1000397858 (12:12074294 C>T), RS1000431634 (12:12088464 G>A), RS1000453340 (12:12066803 C>T), RS1000504196 (12:12048602 A>G), RS1000567405 (12:12065366 T>C), RS1000635071 (12:12081102 G>A,C), RS1000730265 (12:12075626 T>C), RS1000749285 (12:12078912 G>A)
Disease associations
OMIM: gene MIM:606126 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005981_4 | Phosphorus levels | 2.000000e-08 |
| GCST007002_5 | Cerebrospinal fluid t-tau levels in normal cognition | 6.000000e-07 |
| GCST008058_237 | Estimated glomerular filtration rate | 5.000000e-14 |
| GCST008059_36 | Estimated glomerular filtration rate | 2.000000e-14 |
| GCST008062_94 | Blood urea nitrogen levels | 3.000000e-07 |
| GCST008491_11 | Voxel-wise structural brain imaging measurements in Alzheimer’s disease | 2.000000e-06 |
| GCST012490_260 | Femur bone mineral density x serum urate levels interaction | 1.000000e-08 |
| GCST012490_322 | Femur bone mineral density x serum urate levels interaction | 2.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004861 | phosphorus measurement |
| EFO:0004760 | t-tau measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Arsenic Trioxide | affects cotreatment, increases expression, decreases response to substance | 3 |
| Tetrachlorodibenzodioxin | affects expression, affects cotreatment, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| sotorasib | affects cotreatment, increases expression | 1 |
| sanguinarine | affects cotreatment, increases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| testosterone undecanoate | increases expression, affects cotreatment | 1 |
| mono-(2-ethylhexyl)phthalate | decreases methylation, increases abundance | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| manganese chloride | decreases expression, increases abundance, affects cotreatment | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| entinostat | decreases expression | 1 |
| gardiquimod | increases expression, decreases reaction | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Ascorbic Acid | decreases expression, affects cotreatment | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Clozapine | decreases expression | 1 |
| Cycloheximide | affects cotreatment, increases expression | 1 |
| Diethylhexyl Phthalate | increases abundance, decreases methylation | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Manganese | decreases expression, increases abundance, affects cotreatment | 1 |
| Menthol | increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Nickel | 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.