MYCBP
gene geneOn this page
Also known as AMY-1
Summary
MYCBP (MYC binding protein, HGNC:7554) is a protein-coding gene on chromosome 1p34.3, encoding c-Myc-binding protein (Q99417). May control the transcriptional activity of MYC.
The protein encoded by this gene binds to the N-terminus of the oncogenic protein C-MYC, enhancing the ability of C-MYC to activate E box-dependent transcription. The encoded protein is normally found in the cytoplasm, but it translocates to the nucleus during S phase of the cell cycle and associates with C-MYC. This protein may be involved in spermatogenesis. This gene can be silenced by microRNA-22. Two transcript variants, one protein-coding and the other probably not protein-coding, have been found for this gene.
Source: NCBI Gene 26292 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Druggable target: yes
- MANE Select transcript:
NM_012333
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:7554 |
| Approved symbol | MYCBP |
| Name | MYC binding protein |
| Location | 1p34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | AMY-1 |
| Ensembl gene | ENSG00000214114 |
| Ensembl biotype | protein_coding |
| OMIM | 606535 |
| Entrez | 26292 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000397572, ENST00000465771, ENST00000494695, ENST00000495043, ENST00000922069, ENST00000922070, ENST00000922071
RefSeq mRNA: 1 — MANE Select: NM_012333
NM_012333
CCDS: CCDS431
Canonical transcript exons
ENST00000397572 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001459249 | 38862493 | 38864714 |
| ENSE00001926647 | 38873291 | 38873348 |
| ENSE00003502757 | 38867562 | 38867610 |
| ENSE00003529436 | 38873018 | 38873090 |
| ENSE00003611018 | 38866880 | 38867009 |
Expression profiles
Bgee: expression breadth ubiquitous, 224 present calls, max score 94.71.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.5526 / max 642.6341, expressed in 1809 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 11844 | 25.5526 | 1809 |
Top tissues by expression
273 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.71 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 94.68 | gold quality |
| monocyte | CL:0000576 | 91.98 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 91.88 | gold quality |
| mononuclear cell | CL:0000842 | 91.85 | gold quality |
| right testis | UBERON:0004534 | 91.83 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.83 | gold quality |
| leukocyte | CL:0000738 | 91.75 | gold quality |
| left testis | UBERON:0004533 | 91.48 | gold quality |
| rectum | UBERON:0001052 | 90.78 | gold quality |
| testis | UBERON:0000473 | 90.09 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 89.48 | gold quality |
| esophagus mucosa | UBERON:0002469 | 89.47 | gold quality |
| right uterine tube | UBERON:0001302 | 88.92 | gold quality |
| adrenal tissue | UBERON:0018303 | 88.66 | gold quality |
| granulocyte | CL:0000094 | 88.20 | gold quality |
| body of pancreas | UBERON:0001150 | 88.17 | gold quality |
| islet of Langerhans | UBERON:0000006 | 88.04 | gold quality |
| esophagus | UBERON:0001043 | 87.70 | gold quality |
| pancreas | UBERON:0001264 | 87.10 | gold quality |
| transverse colon | UBERON:0001157 | 86.57 | gold quality |
| right adrenal gland | UBERON:0001233 | 86.36 | gold quality |
| lower esophagus | UBERON:0013473 | 85.91 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 85.89 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 85.75 | gold quality |
| left adrenal gland | UBERON:0001234 | 85.69 | gold quality |
| body of stomach | UBERON:0001161 | 85.68 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 85.38 | gold quality |
| minor salivary gland | UBERON:0001830 | 85.20 | gold quality |
| oocyte | CL:0000023 | 85.19 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 28.06 |
| E-ANND-3 | yes | 9.13 |
| E-GEOD-100618 | no | 357.24 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTNNB1, LEF1, MYC
miRNA regulators (miRDB)
124 targeting MYCBP, 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-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
Literature-anchored findings (GeneRIF, showing 16)
- AMY-1 was localized in the mitochondria of HeLa and sperm in association with AKAP149 and S-AKAP84, respectively. These results suggest that AMY-1 plays a role in spermatogenesis (PMID:11483602)
- identified a novel AMY-1-binding protein, AAT-1, and determied its expression profiles, genes, and cellular localization; results showed that AAT-1 was specifically expressed in the testis throughout spermatogenesis and was also present in mature sperm (PMID:12223483)
- interacts with S-AKAP84 and AKAP95 in the cytoplasm and the nucleus, respectively, and inhibits enzyme acdtivity by preventing binding of its catalytic subunit to A-kinase-anchoring protein (AKAP) complex (PMID:12414807)
- AMY-1 coordinates ADP-Ribosylation Factors-mediated membrane trafficking and signaling pathways. (PMID:16866877)
- An important role for MBP-1 in the altered cell proliferation and energy utilization that occur in response to an altered glucose concentration. (PMID:17595061)
- Suppression of telomerase activity mediated by PinX1 is involved in the Mad1/c-Myc pathway. (PMID:20544396)
- miR-22 acts as a tumor suppressor through direct repression of MYCBP expression and subsequent reduction of oncogenic c-Myc activities. (PMID:20562918)
- c-Myc expression is reduced in pterygium compared with normal conjunctiva. (PMID:22050566)
- Weighted gene co-expression network analysis identifies specific modules and hub genes related to subsyndromal symptomatic depression. (PMID:30489189)
- lnc-XLEC1 had inhibitive effects that may result from its collaboration with MBP-1 (MYCBP). (PMID:30698832)
- Through activating MYCBP and by sponging miR-574-5p. (PMID:31094023)
- Data found that MYCBP was highly expressed in hepatocellular carcinoma (HCC) tissues. Its overexpression is correlated with poor prognosis which indicates that MYCBP might play a cancer-promoting role in HCC. Further results found that EYA4 suppressed HCC tumor cell growth by repressing MYCBP by dephosphorylating beta-catenin S552. (PMID:31385398)
- lncRNA LUNAR1 accelerates colorectal cancer progression by targeting the miR4953p/MYCBP axis. (PMID:33300052)
- TAZ is indispensable for c-MYC-induced hepatocarcinogenesis. (PMID:34464659)
- MiR-26b-5p inhibits cell proliferation and EMT by targeting MYCBP in triple-negative breast cancer. (PMID:34895159)
- Circ_0002669 promotes osteosarcoma tumorigenesis through directly binding to MYCBP and sponging miR-889-3p. (PMID:38570856)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mycbp | ENSDARG00000091001 |
| mus_musculus | Mycbp | ENSMUSG00000028647 |
| rattus_norvegicus | Mycbp | ENSRNOG00000065724 |
Protein
Protein identifiers
c-Myc-binding protein — Q99417 (reviewed: Q99417)
Alternative names: Associate of Myc 1
All UniProt accessions (2): A0A0D9SEI7, Q99417
UniProt curated annotations — full annotation on UniProt →
Function. May control the transcriptional activity of MYC. Stimulates the activation of E box-dependent transcription by MYC.
Subunit / interactions. Binds via its C-terminal region to the N-terminal region of MYC. Associates with AKAP1/S-AKAP84. Interacts with MYCBPAP. Interacts with CFAP91. Interacts with CFAP65 in a MYCBPAP-dependent manner. Interacts with OTUD4.
Subcellular location. Cytoplasm. Nucleus. Mitochondrion.
Tissue specificity. Highly expressed in heart, placenta, pancreas, skeletal muscle and kidney. Also present at low levels in lung.
Similarity. Belongs to the AMY1 family.
RefSeq proteins (1): NP_036465* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026060 | AMY1 | Family |
UniProt features (7 total): helix 2, initiator methionine 1, chain 1, sequence conflict 1, strand 1, turn 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2YY0 | X-RAY DIFFRACTION | 2.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99417-F1 | 86.24 | 0.66 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 174 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, TGCGCANK_UNKNOWN, GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, GOBP_MALE_GAMETE_GENERATION, MODULE_16, CTATGCA_MIR153, CAGCTG_AP4_Q5, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, CCTGTGA_MIR513, chr1p34, AAAGACA_MIR511
GO Biological Process (3): regulation of DNA-templated transcription (GO:0006355), spermatogenesis (GO:0007283), positive regulation of DNA-templated transcription (GO:0045893)
GO Molecular Function (2): transcription coactivator activity (GO:0003713), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 2 |
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| developmental process involved in reproduction | 1 |
| male gamete generation | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| transcription coregulator activity | 1 |
| positive regulation of DNA-templated transcription | 1 |
| binding | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1289 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MYCBP | MYCBPAP | Q8TBZ2 | 942 |
| MYCBP | MYC | P01106 | 918 |
| MYCBP | CFAP91 | Q7Z4T9 | 915 |
| MYCBP | AKAP1 | Q92667 | 891 |
| MYCBP | ENO1 | P06733 | 506 |
| MYCBP | CRELD1 | Q96HD1 | 442 |
| MYCBP | PLA2G4A | P47712 | 439 |
| MYCBP | GIPC2 | Q8TF65 | 436 |
| MYCBP | PRKAR2B | P31323 | 424 |
| MYCBP | MYCBP2 | O75592 | 410 |
| MYCBP | ESR1 | P03372 | 406 |
| MYCBP | GADD45G | O95257 | 404 |
| MYCBP | PTN | P21246 | 401 |
| MYCBP | POLR3E | Q9NVU0 | 396 |
| MYCBP | MXI1 | P50539 | 392 |
IntAct
103 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YWHAB | PIK3C2A | psi-mi:“MI:0914”(association) | 0.800 |
| ARFGEF2 | MYCBP | psi-mi:“MI:0915”(physical association) | 0.790 |
| MYCBP | ARFGEF1 | psi-mi:“MI:0915”(physical association) | 0.790 |
| MYCBP | ARFGEF2 | psi-mi:“MI:0915”(physical association) | 0.790 |
| ARFGEF1 | MYCBP | psi-mi:“MI:0915”(physical association) | 0.790 |
| MYCBP | ARFGEF2 | psi-mi:“MI:0403”(colocalization) | 0.790 |
| ARFGEF1 | MYCBP | psi-mi:“MI:0403”(colocalization) | 0.790 |
| HEXIM2 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.740 |
| DYNLL1 | BLTP3B | psi-mi:“MI:0914”(association) | 0.730 |
| KDM5A | SIN3B | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAG | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| DYNLL2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.640 |
| MYCBP | MYCBPAP | psi-mi:“MI:0915”(physical association) | 0.620 |
| MYCBPAP | MYCBP | psi-mi:“MI:0915”(physical association) | 0.620 |
| CFAP91 | MYCBP | psi-mi:“MI:0915”(physical association) | 0.610 |
| MYCBP | CFAP91 | psi-mi:“MI:0407”(direct interaction) | 0.610 |
| CFAP91 | MYCBP | psi-mi:“MI:0403”(colocalization) | 0.610 |
| MYCBP | CFAP91 | psi-mi:“MI:0403”(colocalization) | 0.610 |
| YWHAE | PIK3C2A | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAH | BLTP3B | psi-mi:“MI:0914”(association) | 0.570 |
| YWHAZ | PIK3C2A | psi-mi:“MI:0914”(association) | 0.570 |
| AKAP8 | MYCBP | psi-mi:“MI:0915”(physical association) | 0.550 |
| MYCBP | AKAP8 | psi-mi:“MI:0914”(association) | 0.550 |
BioGRID (138): MYCBP (Affinity Capture-MS), EIF5AL1 (Co-fractionation), MYCBP (Co-fractionation), MYCBP (Co-fractionation), MYCBP (Co-fractionation), MYCBP (Co-fractionation), TPT1 (Co-fractionation), MYCBP (Affinity Capture-MS), MYCBP (Affinity Capture-MS), MYCBP (Affinity Capture-MS), MYCBP (Reconstituted Complex), MYCBP (Affinity Capture-MS), MYCBP (Affinity Capture-MS), MYCBP (Affinity Capture-MS), MYCBP (Affinity Capture-MS)
ESM2 similar proteins: A2XK00, B2RXB2, B5X3I1, C0HMA2, D4A9E1, G0RY74, G0RYE9, O14348, O17453, O75506, O95295, P60192, Q0V9C8, Q0VCF3, Q13503, Q16RX1, Q178E6, Q17NH9, Q2TBP7, Q2TBU8, Q3ZC22, Q4R6N3, Q5R561, Q5R7A8, Q5R8J5, Q5RDI2, Q5RE46, Q5RGJ6, Q5XJ97, Q5ZKJ4, Q68EW7, Q6ASS9, Q6DDT0, Q6DF11, Q6P255, Q7QB45, Q7T338, Q7ZTI5, Q8GW48, Q8K3X8
Diamond homologs: Q2TBP7, Q54I57, Q5R7A8, Q99417, Q9EQS3, Q9VG76
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 111 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 |
|---|---|---|---|
| Activation of BAD and translocation to mitochondria | 5 | 52.1× | 5e-06 |
| Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex | 5 | 46.0× | 6e-06 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 5 | 46.0× | 6e-06 |
| Activation of BH3-only proteins | 5 | 34.0× | 2e-05 |
| RHO GTPases activate PKNs | 5 | 21.7× | 1e-04 |
| Intrinsic Pathway for Apoptosis | 5 | 20.1× | 1e-04 |
| Apoptosis | 6 | 13.8× | 1e-04 |
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 6 | 12.7× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
0 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
919 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:38867534:AAAG:A | donor_gain | 1.0000 |
| 1:38873016:AC:A | donor_gain | 1.0000 |
| 1:38873017:CC:C | donor_gain | 1.0000 |
| 1:38873289:A:AC | donor_gain | 1.0000 |
| 1:38873290:C:CC | donor_gain | 1.0000 |
| 1:38864711:CAAG:C | acceptor_gain | 0.9900 |
| 1:38866875:TTTA:T | donor_loss | 0.9900 |
| 1:38866876:TTA:T | donor_loss | 0.9900 |
| 1:38866877:TA:T | donor_loss | 0.9900 |
| 1:38866878:AC:A | donor_loss | 0.9900 |
| 1:38866879:CCTT:C | donor_loss | 0.9900 |
| 1:38873327:G:C | donor_gain | 0.9900 |
| 1:38864715:C:CC | acceptor_gain | 0.9800 |
| 1:38867547:G:T | donor_gain | 0.9800 |
| 1:38873013:CTCA:C | donor_loss | 0.9800 |
| 1:38873014:TCA:T | donor_loss | 0.9800 |
| 1:38873015:CA:C | donor_loss | 0.9800 |
| 1:38873016:A:AC | donor_gain | 0.9800 |
| 1:38873016:A:AG | donor_loss | 0.9800 |
| 1:38873017:C:CC | donor_gain | 0.9800 |
| 1:38873285:CCTCA:C | donor_loss | 0.9800 |
| 1:38873286:CTCA:C | donor_loss | 0.9800 |
| 1:38873287:TCA:T | donor_loss | 0.9800 |
| 1:38873288:CACTT:C | donor_loss | 0.9800 |
| 1:38873289:ACTTT:A | donor_loss | 0.9800 |
| 1:38864714:GC:G | acceptor_loss | 0.9700 |
| 1:38864715:C:CA | acceptor_loss | 0.9700 |
| 1:38866877:TAC:T | donor_loss | 0.9700 |
| 1:38866879:CCTTT:C | donor_loss | 0.9700 |
| 1:38873012:GCTCA:G | donor_loss | 0.9700 |
AlphaMissense
663 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:38867006:A:C | F47L | 1.000 |
| 1:38867006:A:T | F47L | 1.000 |
| 1:38867008:A:G | F47L | 1.000 |
| 1:38873053:A:G | L18S | 1.000 |
| 1:38873064:G:C | F14L | 1.000 |
| 1:38873064:G:T | F14L | 1.000 |
| 1:38873065:A:G | F14S | 1.000 |
| 1:38873066:A:G | F14L | 1.000 |
| 1:38867577:G:T | P41H | 0.999 |
| 1:38867578:G:A | P41S | 0.999 |
| 1:38867598:A:G | L34S | 0.999 |
| 1:38867607:A:G | L31S | 0.999 |
| 1:38873042:C:A | G22W | 0.999 |
| 1:38873053:A:C | L18W | 0.999 |
| 1:38873062:C:G | R15P | 0.999 |
| 1:38873065:A:C | F14C | 0.999 |
| 1:38873075:G:A | R11C | 0.999 |
| 1:38873075:G:T | R11S | 0.999 |
| 1:38867568:G:T | A44D | 0.998 |
| 1:38867577:G:A | P41L | 0.998 |
| 1:38867579:T:A | K40N | 0.998 |
| 1:38867579:T:G | K40N | 0.998 |
| 1:38867596:A:G | Y35H | 0.998 |
| 1:38873023:G:A | T28I | 0.998 |
| 1:38873026:A:G | L27P | 0.998 |
| 1:38873041:C:A | G22V | 0.998 |
| 1:38873041:C:T | G22E | 0.998 |
| 1:38873051:C:T | E19K | 0.998 |
| 1:38873052:C:A | L18F | 0.998 |
| 1:38873052:C:G | L18F | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000003932 (1:38867170 G>A), RS1000060196 (1:38864286 G>C), RS1000657994 (1:38862595 A>G), RS1001491394 (1:38863936 G>C,T), RS1001546920 (1:38866694 C>T), RS1001744444 (1:38871428 T>C), RS1002084368 (1:38874208 A>G), RS1002429876 (1:38868533 A>G), RS1002481204 (1:38862112 T>G), RS1002491833 (1:38872852 G>A), RS1002649774 (1:38865083 G>T), RS1003087400 (1:38873166 C>A,G,T), RS1003403133 (1:38867339 G>C), RS1003488645 (1:38871076 C>T), RS1003684903 (1:38870078 G>A)
Disease associations
OMIM: gene MIM:606535 | 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 |
|---|---|---|
| GCST003475_2 | Beard thickness | 8.000000e-06 |
| GCST005312_27 | Menopause (age at onset) | 5.000000e-21 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004704 | age at menopause |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067196 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| methylmercuric chloride | decreases expression | 3 |
| bisphenol A | decreases expression, increases expression | 3 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression, affects expression | 3 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Cisplatin | decreases expression, decreases reaction, increases expression | 2 |
| Ozone | affects cotreatment, increases expression, increases abundance, affects expression | 2 |
| Cyclosporine | decreases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| methylparaben | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| methacrylaldehyde | increases expression, increases abundance, affects cotreatment | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Copper | affects binding, decreases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Doxorubicin | affects response to substance | 1 |
| Estradiol | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Phenobarbital | affects expression | 1 |
| Piroxicam | decreases expression, decreases reaction | 1 |
| Silicon Dioxide | decreases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652935 | Binding | Binding affinity to human MYCBP incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
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.