PBLD
gene geneOn this page
Also known as MAWBPMAWDBPFLJ14767
Summary
PBLD (phenazine biosynthesis like protein domain containing, HGNC:23301) is a protein-coding gene on chromosome 10q21.3, encoding Phenazine biosynthesis-like domain-containing protein (P30039). Functions as a positive regulator of the antiviral immune response by modulating innate immunity and viral replication by enhancing type I interferon (IFN-I) response.
Enables identical protein binding activity. Involved in maintenance of gastrointestinal epithelium. Acts upstream of or within with a positive effect on negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm.
Source: NCBI Gene 64081 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 50 total
- MANE Select transcript:
NM_022129
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23301 |
| Approved symbol | PBLD |
| Name | phenazine biosynthesis like protein domain containing |
| Location | 10q21.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MAWBP, MAWDBP, FLJ14767 |
| Ensembl gene | ENSG00000108187 |
| Ensembl biotype | protein_coding |
| OMIM | 612189 |
| Entrez | 64081 |
Gene structure
Transcript identifiers
Ensembl transcripts: 21 — 19 protein_coding, 2 retained_intron
ENST00000277795, ENST00000309049, ENST00000336578, ENST00000358769, ENST00000468798, ENST00000478192, ENST00000495025, ENST00000880158, ENST00000880159, ENST00000880160, ENST00000880161, ENST00000880162, ENST00000880163, ENST00000880164, ENST00000880165, ENST00000880166, ENST00000880167, ENST00000880168, ENST00000880169, ENST00000940606, ENST00000966864
RefSeq mRNA: 2 — MANE Select: NM_022129
NM_001033083, NM_022129
CCDS: CCDS44413, CCDS7277
Canonical transcript exons
ENST00000358769 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001461198 | 68332784 | 68332928 |
| ENSE00003384900 | 68306761 | 68306903 |
| ENSE00003707573 | 68296886 | 68296985 |
| ENSE00003709756 | 68292129 | 68292238 |
| ENSE00003711230 | 68292010 | 68292039 |
| ENSE00003889779 | 68296266 | 68296364 |
| ENSE00003891858 | 68285348 | 68285410 |
| ENSE00003892115 | 68288483 | 68288661 |
| ENSE00003895778 | 68282660 | 68284289 |
| ENSE00003896100 | 68288931 | 68289019 |
Expression profiles
Bgee: expression breadth ubiquitous, 257 present calls, max score 99.73.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.3167 / max 472.1352, expressed in 1647 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 109749 | 3.6052 | 1560 |
| 109745 | 1.2518 | 43 |
| 109748 | 1.0298 | 621 |
| 109744 | 0.2801 | 24 |
| 109746 | 0.1185 | 28 |
| 109747 | 0.0313 | 15 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| nephron tubule | UBERON:0001231 | 99.73 | gold quality |
| jejunal mucosa | UBERON:0000399 | 99.61 | gold quality |
| kidney epithelium | UBERON:0004819 | 99.53 | gold quality |
| renal glomerulus | UBERON:0000074 | 99.39 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 99.31 | gold quality |
| duodenum | UBERON:0002114 | 98.67 | gold quality |
| renal medulla | UBERON:0000362 | 98.10 | gold quality |
| liver | UBERON:0002107 | 97.97 | gold quality |
| right lobe of liver | UBERON:0001114 | 97.72 | gold quality |
| adult organism | UBERON:0007023 | 97.02 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 96.48 | gold quality |
| ileal mucosa | UBERON:0000331 | 96.23 | gold quality |
| kidney | UBERON:0002113 | 96.09 | gold quality |
| colonic mucosa | UBERON:0000317 | 95.66 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 94.79 | gold quality |
| cortex of kidney | UBERON:0001225 | 94.64 | gold quality |
| endothelial cell | CL:0000115 | 94.33 | gold quality |
| metanephros | UBERON:0000081 | 93.81 | gold quality |
| body of pancreas | UBERON:0001150 | 93.71 | gold quality |
| caput epididymis | UBERON:0004358 | 93.28 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.89 | gold quality |
| pylorus | UBERON:0001166 | 91.83 | gold quality |
| rectum | UBERON:0001052 | 91.51 | gold quality |
| small intestine | UBERON:0002108 | 91.11 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.20 | gold quality |
| pancreas | UBERON:0001264 | 89.49 | gold quality |
| cardia of stomach | UBERON:0001162 | 89.36 | gold quality |
| bronchial epithelial cell | CL:0002328 | 89.07 | gold quality |
| pancreatic ductal cell | CL:0002079 | 89.02 | gold quality |
| body of stomach | UBERON:0001161 | 88.98 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-10 | yes | 30.32 |
| E-CURD-135 | no | 848.93 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
80 targeting PBLD, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-302A-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302B-3P | 99.89 | 71.23 | 1777 |
| HSA-MIR-302C-3P | 99.89 | 71.20 | 1778 |
| HSA-MIR-302D-3P | 99.89 | 71.25 | 1777 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
Literature-anchored findings (GeneRIF, showing 6)
- Coexpression of MAWBP and MAWD inhibited epithelial mesenchymal transformation, and EMT-aided malignant cell progression was suppressed in gastric cancer. (PMID:23687415)
- MAWD and MAWBP were downregulated and associated with the differentiation grade in GC tissues. (PMID:26373288)
- Data show that phenazine biosynthesis-like domain-containing protein (PBLD) is aberrantly downregulated in hepatocellular carcinoma (HCC). (PMID:26594798)
- data indicate that circKDM4C might have considerable potential as a prognostic biomarker in breast cancer, and support the notion that therapeutic targeting of circKDM4C/miR-548p/PBLD axis may be a promising treatment approach for breast cancer patients (PMID:31406252)
- Long noncoding RNA MEG3 suppresses cell proliferation, migration and invasion, induces apoptosis and paclitaxel-resistance via miR-4513/PBLD axis in breast cancer cells. (PMID:33121324)
- PBLD inhibits angiogenesis via impeding VEGF/VEGFR2-mediated microenvironmental cross-talk between HCC cells and endothelial cells. (PMID:35140333)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pbld | ENSDARG00000016704 |
| danio_rerio | pbld2 | ENSDARG00000026359 |
| mus_musculus | Pbld2 | ENSMUSG00000020072 |
| mus_musculus | Pbld1 | ENSMUSG00000112129 |
| rattus_norvegicus | Pbld1 | ENSRNOG00000000386 |
| rattus_norvegicus | Pbld2 | ENSRNOG00000069854 |
| caenorhabditis_elegans | WBGENE00011416 | |
| caenorhabditis_elegans | WBGENE00011417 | |
| caenorhabditis_elegans | WBGENE00011419 | |
| caenorhabditis_elegans | WBGENE00011420 | |
| caenorhabditis_elegans | WBGENE00235310 |
Protein
Protein identifiers
Phenazine biosynthesis-like domain-containing protein — P30039 (reviewed: P30039)
Alternative names: MAWD-binding protein, Unknown protein 32 from 2D-page of liver tissue
All UniProt accessions (4): P30039, A0A024QZK5, A0A0C4DFS0, V9GY00
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a positive regulator of the antiviral immune response by modulating innate immunity and viral replication by enhancing type I interferon (IFN-I) response. PBLD enhances IFN-I signaling via multiple pathways. Promotes IRF3-mediated IFN-I production and apoptosis, thereby inhibiting viral replication. Upregulates IFN-I response by activating the NF-kappaB signaling pathway, potentially through inhibition of TRIM21-mediated degradation of phosphorylated IKKbeta, thereby sustaining NF-kappaB activation to counteract viral infection. Additionally, promotes the p53-USP4-MAVS signaling axis by stabilizing MAVS through USP4-mediated deubiquitination, thereby enhancing the IFN-I response against RNA virus infection. Acts as a tumor suppressor, regulating development of various cancers.
Subunit / interactions. Interacts with STRAP.
Similarity. Belongs to the PhzF family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P30039-1 | 1 | yes |
| P30039-2 | 2 |
RefSeq proteins (2): NP_001028255, NP_071412* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003719 | Phenazine_PhzF-like | Family |
Pfam: PF02567
UniProt features (6 total): sequence variant 3, chain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P30039-F1 | 95.61 | 0.93 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 138 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, MODULE_93, GOBP_DIGESTION, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, GOBP_POSITIVE_REGULATION_OF_TYPE_I_INTERFERON_PRODUCTION, GOBP_CANONICAL_NF_KAPPAB_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, chr10q21, MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, GOBP_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA, GOBP_CYTOKINE_PRODUCTION, GOBP_MAINTENANCE_OF_GASTROINTESTINAL_EPITHELIUM
GO Biological Process (8): apoptotic process (GO:0006915), maintenance of gastrointestinal epithelium (GO:0030277), negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512), regulation of type I interferon production (GO:0032479), positive regulation of type I interferon production (GO:0032481), positive regulation of canonical NF-kappaB signal transduction (GO:0043123), antiviral innate immune response (GO:0140374), biosynthetic process (GO:0009058)
GO Molecular Function (5): isomerase activity (GO:0016853), identical protein binding (GO:0042802), molecular_function (GO:0003674), catalytic activity (GO:0003824), protein binding (GO:0005515)
GO Cellular Component (2): cytoplasm (GO:0005737), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| type I interferon production | 2 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| epithelial structure maintenance | 1 |
| digestive system process | 1 |
| transforming growth factor beta receptor signaling pathway | 1 |
| regulation of transforming growth factor beta receptor signaling pathway | 1 |
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| regulation of cytokine production | 1 |
| positive regulation of cytokine production | 1 |
| regulation of type I interferon production | 1 |
| canonical NF-kappaB signal transduction | 1 |
| regulation of canonical NF-kappaB signal transduction | 1 |
| positive regulation of intracellular signal transduction | 1 |
| innate immune response | 1 |
| defense response to virus | 1 |
| metabolic process | 1 |
| catalytic activity | 1 |
| protein binding | 1 |
| molecular_function | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
552 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PBLD | STRAP | Q9Y3F4 | 981 |
| PBLD | RUFY2 | Q8WXA3 | 538 |
| PBLD | ATOH7 | Q8N100 | 454 |
| PBLD | ZNRD2 | O60232 | 436 |
| PBLD | TMEM50A | O95807 | 425 |
| PBLD | TMTC2 | Q8N394 | 415 |
| PBLD | MYPN | Q86TC9 | 391 |
| PBLD | FRMPD2 | Q68DX3 | 386 |
| PBLD | FAM131C | Q96AQ9 | 384 |
| PBLD | VRK1 | Q99986 | 366 |
| PBLD | ASB7 | Q9H672 | 365 |
| PBLD | RPAP3 | Q9H6T3 | 358 |
| PBLD | RFLNA | Q6ZTI6 | 356 |
| PBLD | FRMD8 | Q9BZ67 | 353 |
| PBLD | LARP4 | Q71RC2 | 346 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PBLD | EFHC2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| EFHC2 | PBLD | psi-mi:“MI:0915”(physical association) | 0.780 |
| PBLD | ZRANB1 | psi-mi:“MI:0915”(physical association) | 0.760 |
| CCDC184 | PBLD | psi-mi:“MI:0915”(physical association) | 0.720 |
| PBLD | CCDC184 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRIP13 | PBLD | psi-mi:“MI:0915”(physical association) | 0.670 |
| PBLD | TRIP13 | psi-mi:“MI:0915”(physical association) | 0.670 |
| PBLD | PBLD | psi-mi:“MI:0915”(physical association) | 0.670 |
| PLEKHS1 | PBLD | psi-mi:“MI:0915”(physical association) | 0.590 |
| TCF4 | PBLD | psi-mi:“MI:0915”(physical association) | 0.560 |
| LNX1 | PBLD | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBLD | TCF4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBLD | LNX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBLD | VAC14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| AMOT | PBLD | psi-mi:“MI:0915”(physical association) | 0.560 |
| PBLD | BEND7 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (38): PBLD (Two-hybrid), PBLD (Two-hybrid), PBLD (Two-hybrid), EFHC2 (Two-hybrid), LNX1 (Two-hybrid), CCDC184 (Two-hybrid), ZRANB1 (Affinity Capture-MS), PBLD (Affinity Capture-MS), PBLD (Affinity Capture-MS), PBLD (Two-hybrid), ZRANB1 (Affinity Capture-MS), PBLD (Affinity Capture-MS), PBLD (Affinity Capture-MS), PBLD (Affinity Capture-MS), PBLD (Two-hybrid)
ESM2 similar proteins: A1CP85, A3QFI1, A6R8Q8, A8X493, B0WSW8, B3MZN7, B3NY19, B4PYH5, B6JVD0, C0NL63, C4JYG6, C5G8R4, C5JKE6, C6HCG7, D0A8W2, D5SQS4, P05165, P07547, P0DTA4, P14882, P30039, P37757, P38765, P58292, P73125, P87241, Q08DA5, Q0D0F3, Q16P87, Q21657, Q2HJF4, Q32LQ3, Q383H9, Q3SX04, Q42777, Q4V7F3, Q5I0C3, Q5RDZ1, Q68EH8, Q68G31
Diamond homologs: O31570, P30039, P37757, P40788, P58292, P58293, Q5RDZ1, Q9A3I3, Q9HY42, Q9KBH7, Q9RUQ2, Q2HJF4, Q68G31, Q8NIL3, Q98KN6, Q9CKV2, Q9CXN7, Q9DCG6, Q9I073, Q9KG32, O69754, Q51520, Q51792, P0A5G8, P38765, P73125, P9WL42, P9WL43, Q9P7P9, Q9KMG3
SIGNOR signaling
0 interactions.
Disease & clinical
Cancer significance
Clinical variants and AI predictions
ClinVar
50 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 42 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2214 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:68288925:TCTTA:T | donor_loss | 1.0000 |
| 10:68288926:CTTA:C | donor_loss | 1.0000 |
| 10:68288927:TTAC:T | donor_loss | 1.0000 |
| 10:68288928:TACCT:T | donor_loss | 1.0000 |
| 10:68288929:A:AC | donor_gain | 1.0000 |
| 10:68288930:C:CC | donor_gain | 1.0000 |
| 10:68288930:C:CG | donor_loss | 1.0000 |
| 10:68289020:C:CC | acceptor_gain | 1.0000 |
| 10:68296264:A:AC | donor_gain | 1.0000 |
| 10:68296265:C:CC | donor_gain | 1.0000 |
| 10:68296268:A:AC | donor_gain | 1.0000 |
| 10:68296884:A:AC | donor_gain | 1.0000 |
| 10:68296885:C:CC | donor_gain | 1.0000 |
| 10:68306759:A:AC | donor_gain | 1.0000 |
| 10:68306760:C:CC | donor_gain | 1.0000 |
| 10:68306760:CA:C | donor_gain | 1.0000 |
| 10:68306904:CTT:C | acceptor_gain | 1.0000 |
| 10:68306907:C:CC | acceptor_gain | 1.0000 |
| 10:68306908:T:C | acceptor_gain | 1.0000 |
| 10:68306908:T:TC | acceptor_gain | 1.0000 |
| 10:68332215:GG:G | donor_gain | 1.0000 |
| 10:68332216:GG:G | donor_gain | 1.0000 |
| 10:68332223:G:GT | donor_gain | 1.0000 |
| 10:68332226:G:GG | donor_gain | 1.0000 |
| 10:68332232:GGGG:G | donor_gain | 1.0000 |
| 10:68332233:GGGG:G | donor_gain | 1.0000 |
| 10:68288601:C:A | donor_gain | 0.9900 |
| 10:68288663:T:C | acceptor_gain | 0.9900 |
| 10:68289016:CAGT:C | acceptor_gain | 0.9900 |
| 10:68289019:TCT:T | acceptor_loss | 0.9900 |
AlphaMissense
1883 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:68306812:G:C | F11L | 0.996 |
| 10:68306812:G:T | F11L | 0.996 |
| 10:68306814:A:G | F11L | 0.996 |
| 10:68296344:A:G | W69R | 0.995 |
| 10:68296344:A:T | W69R | 0.995 |
| 10:68288493:G:C | D227E | 0.993 |
| 10:68288493:G:T | D227E | 0.993 |
| 10:68288495:C:G | D227H | 0.993 |
| 10:68296339:A:C | F70L | 0.993 |
| 10:68296339:A:T | F70L | 0.993 |
| 10:68296341:A:G | F70L | 0.993 |
| 10:68288494:T:C | D227G | 0.992 |
| 10:68296923:A:C | F49L | 0.991 |
| 10:68296923:A:T | F49L | 0.991 |
| 10:68296925:A:G | F49L | 0.991 |
| 10:68288494:T:G | D227A | 0.989 |
| 10:68288527:C:G | R216T | 0.989 |
| 10:68288955:A:T | V163D | 0.989 |
| 10:68288494:T:A | D227V | 0.988 |
| 10:68306788:A:C | N19K | 0.988 |
| 10:68306788:A:T | N19K | 0.988 |
| 10:68285381:A:G | W241R | 0.987 |
| 10:68285381:A:T | W241R | 0.987 |
| 10:68288526:T:A | R216S | 0.987 |
| 10:68288526:T:G | R216S | 0.987 |
| 10:68296306:A:C | H81Q | 0.987 |
| 10:68296306:A:T | H81Q | 0.987 |
| 10:68306793:C:A | G18W | 0.987 |
| 10:68296290:C:G | A87P | 0.986 |
| 10:68296295:G:T | A85D | 0.985 |
dbSNP variants (sampled 300 via entrez): RS1000152563 (10:68316791 T>C), RS1000228517 (10:68297256 G>A), RS1000237599 (10:68285868 A>G,T), RS1000292075 (10:68332632 A>T), RS1000294505 (10:68289632 G>A,C), RS1000327056 (10:68310149 A>G), RS1000377888 (10:68303693 C>G,T), RS1000405323 (10:68322596 C>T), RS1000420993 (10:68326667 T>G), RS1000455859 (10:68296585 C>A,G,T), RS1000515525 (10:68282562 C>A,T), RS1000573550 (10:68287747 TTTG>T), RS1000598362 (10:68296833 C>T), RS1000666591 (10:68289875 C>T), RS1000725840 (10:68332461 A>G)
Disease associations
OMIM: gene MIM:612189 | 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 |
|---|---|---|
| GCST000657_5 | Optic nerve measurement (disc area) | 2.000000e-10 |
| GCST000699_2 | Optic disc parameters | 3.000000e-35 |
| GCST000700_8 | Vertical cup-disc ratio | 2.000000e-08 |
| GCST004047_2 | Optic nerve measurement (cup-to-disc ratio) | 1.000000e-13 |
| GCST009427_2 | Optic disc radius | 4.000000e-11 |
| GCST009462_11 | Optic disc size | 3.000000e-209 |
| GCST009462_12 | Optic disc size | 1.000000e-56 |
| GCST90020028_49 | Hip circumference adjusted for BMI | 1.000000e-08 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006939 | cup-to-disc ratio measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
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 |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 8 |
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 3 |
| Hydrogen Peroxide | affects expression, decreases expression | 2 |
| Tetrachlorodibenzodioxin | affects expression, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| sotorasib | affects cotreatment, increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| perfluorohexanesulfonic acid | increases expression | 1 |
| clothianidin | decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases expression, increases response to substance | 1 |
| trametinib | affects cotreatment, increases expression | 1 |
| NVP-BKM120 | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Air Pollutants | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7WM | Ubigene A-549 PBLD KO | Cancer cell line | Male |
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.