PARD6B
gene geneOn this page
Also known as PAR-6B
Summary
PARD6B (par-6 family cell polarity regulator beta, HGNC:16245) is a protein-coding gene on chromosome 20q13.13, encoding Partitioning defective 6 homolog beta (Q9BYG5). Adapter protein involved in asymmetrical cell division and cell polarization processes. It is a selective cancer dependency (DepMap: 12.9% of cell lines).
This gene is a member of the PAR6 family and encodes a protein with a PSD95/Discs-large/ZO1 (PDZ) domain, an OPR domain and a semi-Cdc42/Rac interactive binding (CRIB) domain. This cytoplasmic protein is involved in asymmetrical cell division and cell polarization processes as a member of a multi-protein complex.
Source: NCBI Gene 84612 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 50 total
- Cancer dependency (DepMap): dependent in 12.9% of screened cell lines
- MANE Select transcript:
NM_032521
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16245 |
| Approved symbol | PARD6B |
| Name | par-6 family cell polarity regulator beta |
| Location | 20q13.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PAR-6B |
| Ensembl gene | ENSG00000124171 |
| Ensembl biotype | protein_coding |
| OMIM | 608975 |
| Entrez | 84612 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 3 protein_coding
ENST00000371610, ENST00000396039, ENST00000948561
RefSeq mRNA: 1 — MANE Select: NM_032521
NM_032521
CCDS: CCDS33485
Canonical transcript exons
ENST00000371610 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000845624 | 50737857 | 50738079 |
| ENSE00001455648 | 50749659 | 50753741 |
| ENSE00001455652 | 50731580 | 50731852 |
Expression profiles
Bgee: expression breadth ubiquitous, 223 present calls, max score 98.38.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.4848 / max 901.1026, expressed in 1085 samples.
FANTOM5 promoters (13 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 185275 | 15.9549 | 701 |
| 185273 | 11.2858 | 876 |
| 185274 | 2.8986 | 408 |
| 185266 | 1.5428 | 452 |
| 185270 | 0.7196 | 198 |
| 185272 | 0.6200 | 248 |
| 185267 | 0.5318 | 151 |
| 185271 | 0.5290 | 202 |
| 185268 | 0.4407 | 143 |
| 185269 | 0.3020 | 121 |
Top tissues by expression
269 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| germinal epithelium of ovary | UBERON:0001304 | 98.38 | gold quality |
| renal medulla | UBERON:0000362 | 95.21 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 95.16 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 93.18 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 91.54 | gold quality |
| amniotic fluid | UBERON:0000173 | 91.15 | gold quality |
| jejunal mucosa | UBERON:0000399 | 90.27 | gold quality |
| lower lobe of lung | UBERON:0008949 | 90.10 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 89.94 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 89.80 | gold quality |
| bronchial epithelial cell | CL:0002328 | 87.30 | gold quality |
| corpus epididymis | UBERON:0004359 | 86.90 | gold quality |
| sperm | CL:0000019 | 86.71 | gold quality |
| parietal pleura | UBERON:0002400 | 85.65 | gold quality |
| caput epididymis | UBERON:0004358 | 84.70 | gold quality |
| male germ cell | CL:0000015 | 83.59 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.56 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 83.26 | gold quality |
| oral cavity | UBERON:0000167 | 82.88 | gold quality |
| pleura | UBERON:0000977 | 82.65 | gold quality |
| secondary oocyte | CL:0000655 | 82.46 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 82.42 | gold quality |
| colonic mucosa | UBERON:0000317 | 82.34 | gold quality |
| oocyte | CL:0000023 | 82.11 | gold quality |
| visceral pleura | UBERON:0002401 | 81.57 | gold quality |
| metanephros cortex | UBERON:0010533 | 81.44 | gold quality |
| kidney | UBERON:0002113 | 81.39 | gold quality |
| cortex of kidney | UBERON:0001225 | 80.86 | gold quality |
| squamous epithelium | UBERON:0006914 | 80.26 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.14 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6678 | yes | 8.23 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
184 targeting PARD6B, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-223-3P | 99.99 | 70.14 | 1140 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 12.9% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 7)
- The ability of SRC family coactivators to regulate the expression of one of these genes, PARD6B/Par6, was confirmed by using cells individually depleted of SRC-1. (PMID:15677324)
- Interaction between PAR-3 and the aPKC-PAR-6 complex is indispensable for apical domain development of epithelial cells. (PMID:19401335)
- This study demonstrates that controlled regulation of PAK4 is required for apical junction formation in lung epithelial cells and highlights potential cross-talk between two Cdc42 targets, PAK4 and Par6B. (PMID:20631255)
- Data conclude that Par6B and aPKC control mitotic spindle orientation in polarized epithelia and, furthermore, that aPKC coordinately regulates multiple processes to promote morphogenesis. (PMID:21300793)
- PAK4 phosphorylates Par6B at Ser143 blocking its interaction with Cdc42. (PMID:25662318)
- found that the polarity determinants Cdc42, Par6B, PKCzeta/iota and the structural proteins ezrin and phospho-ezrin were lost from the apical membrane and accumulated either in the cytoplasm or on the basal side of enterocytes in patients (PMID:26526116)
- reduced expression of PKCzeta/Pard3/Pard6 contributes to non-small-cell lung cancer epithelial-mesenchymal transition, invasion, and chemoresistance. (PMID:28652146)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pard6b | ENSDARG00000003865 |
| mus_musculus | Pard6b | ENSMUSG00000044641 |
| rattus_norvegicus | Pard6b | ENSRNOG00000010883 |
| drosophila_melanogaster | par-6 | FBGN0026192 |
| caenorhabditis_elegans | par-6 | WBGENE00003921 |
Paralogs (2): PARD6A (ENSG00000102981), PARD6G (ENSG00000178184)
Protein
Protein identifiers
Partitioning defective 6 homolog beta — Q9BYG5 (reviewed: Q9BYG5)
All UniProt accessions (1): Q9BYG5
UniProt curated annotations — full annotation on UniProt →
Function. Adapter protein involved in asymmetrical cell division and cell polarization processes. Probably involved in formation of epithelial tight junctions. Association with PARD3 may prevent the interaction of PARD3 with F11R/JAM1, thereby preventing tight junction assembly. The PARD6-PARD3 complex links GTP-bound Rho small GTPases to atypical protein kinase C proteins.
Subunit / interactions. Interacts with PARD3. Interacts with GTP-bound forms of CDC42 and RAC1. Interacts with GTP-bound RHOQ/TC10. Interacts with PALS1. Interacts with the N-terminal part of PRKCI and PRKCZ. Part of a complex with PARD3, CDC42 or RAC1 and PRKCI or PRKCZ. Part of a complex with LLGL1 and PRKCI. Interacts with PARD3B. Interacts with ECT2.
Subcellular location. Cytoplasm. Cell membrane. Cell junction. Tight junction.
Tissue specificity. Expressed in pancreas and in both adult and fetal kidney. Weakly expressed in placenta and lung. Not expressed in other tissues.
Domain organisation. The pseudo-CRIB domain together with the PDZ domain is required for the interaction with Rho small GTPases. The PDZ domain mediates interaction with PALS1.
Similarity. Belongs to the PAR6 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BYG5-1 | 1 | yes |
| Q9BYG5-2 | 2 |
RefSeq proteins (1): NP_115910* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000270 | PB1_dom | Domain |
| IPR001478 | PDZ | Domain |
| IPR034868 | PB1_Par6 | Domain |
| IPR036034 | PDZ_sf | Homologous_superfamily |
| IPR051741 | PAR6_homolog | Family |
| IPR053793 | PB1-like | Domain |
Pfam: PF00564, PF00595
UniProt features (10 total): domain 3, region of interest 2, splice variant 2, chain 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BYG5-F1 | 70.97 | 0.40 |
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): 11
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-420029 | Tight junction interactions |
| R-HSA-9013424 | RHOV GTPase cycle |
MSigDB gene sets: 198 (showing top):
GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, TGCACTT_MIR519C_MIR519B_MIR519A, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, TATTATA_MIR374, GOBP_NEUROGENESIS, KEGG_TIGHT_JUNCTION, GOBP_CELL_JUNCTION_ORGANIZATION, MODULE_205, GOBP_REGULATION_OF_CELLULAR_LOCALIZATION, PYEON_CANCER_HEAD_AND_NECK_VS_CERVICAL_UP, GOCC_APICAL_PLASMA_MEMBRANE, GOBP_CELL_JUNCTION_ASSEMBLY, SENESE_HDAC1_TARGETS_UP, KEGG_ENDOCYTOSIS
GO Biological Process (9): cell-cell junction assembly (GO:0007043), centrosome cycle (GO:0007098), establishment or maintenance of cell polarity (GO:0007163), axonogenesis (GO:0007409), regulation of cell migration (GO:0030334), establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197), cell division (GO:0051301), regulation of cellular localization (GO:0060341), protein-containing complex assembly (GO:0065003)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (15): nucleus (GO:0005634), cytosol (GO:0005829), plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), cell cortex (GO:0005938), apical plasma membrane (GO:0016324), cell junction (GO:0030054), extracellular exosome (GO:0070062), tight junction (GO:0070160), PAR polarity complex (GO:0120157), cytoplasm (GO:0005737), membrane (GO:0016020), protein-containing complex (GO:0032991), apical part of cell (GO:0045177), anchoring junction (GO:0070161)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Cell-cell junction organization | 1 |
| RHO GTPase cycle | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| cellular process | 2 |
| cytoplasm | 2 |
| cell periphery | 2 |
| cell junction assembly | 1 |
| cell-cell junction organization | 1 |
| cell cycle process | 1 |
| microtubule organizing center organization | 1 |
| cell morphogenesis involved in neuron differentiation | 1 |
| neuron projection morphogenesis | 1 |
| axon development | 1 |
| cell migration | 1 |
| regulation of cell motility | 1 |
| establishment or maintenance of apical/basal cell polarity | 1 |
| regulation of localization | 1 |
| regulation of cellular process | 1 |
| cellular localization | 1 |
| cellular component assembly | 1 |
| protein-containing complex organization | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| membrane | 1 |
| apical junction complex | 1 |
| tight junction | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
| extracellular vesicle | 1 |
| cell-cell junction | 1 |
| serine/threonine protein kinase complex | 1 |
| intracellular anatomical structure | 1 |
| cellular_component | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1032 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PARD6B | CDC42 | P21181 | 991 |
| PARD6B | PRKCZ | Q05513 | 917 |
| PARD6B | PARD3 | Q8TEW0 | 896 |
| PARD6B | TJP1 | Q07157 | 671 |
| PARD6B | LLGL2 | Q6P1M3 | 590 |
| PARD6B | PRKCI | P41743 | 583 |
| PARD6B | SMURF1 | Q9HCE7 | 583 |
| PARD6B | JAM2 | P57087 | 564 |
| PARD6B | TIAM1 | Q13009 | 540 |
| PARD6B | RAC1 | P15154 | 527 |
| PARD6B | PARD3B | Q8TEW8 | 516 |
| PARD6B | PATJ | Q8NI35 | 510 |
| PARD6B | ANXA2 | P07355 | 503 |
| PARD6B | CRB3 | Q9BUF7 | 494 |
| PARD6B | RHOA | P06749 | 482 |
IntAct
176 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PARD6B | PRKCI | psi-mi:“MI:0915”(physical association) | 0.960 |
| PRKCI | PARD6B | psi-mi:“MI:0915”(physical association) | 0.960 |
| PARD6B | PRKCI | psi-mi:“MI:0914”(association) | 0.960 |
| PRKCZ | PARD6B | psi-mi:“MI:0915”(physical association) | 0.950 |
| PARD6A | PRKCI | psi-mi:“MI:0914”(association) | 0.950 |
| PARD6B | CDC42 | psi-mi:“MI:0915”(physical association) | 0.900 |
| CDC42 | PARD6B | psi-mi:“MI:0915”(physical association) | 0.900 |
| PRKCZ | PRKCI | psi-mi:“MI:0914”(association) | 0.890 |
| LLGL2 | PRKCI | psi-mi:“MI:0915”(physical association) | 0.890 |
BioGRID (245): PARD6B (Two-hybrid), PARD6B (Two-hybrid), PARD6B (Two-hybrid), PARD6B (Two-hybrid), PARD6B (Two-hybrid), PARD6B (Two-hybrid), PARD6B (Affinity Capture-MS), PARD6B (Affinity Capture-MS), PARD3 (Affinity Capture-MS), LLGL2 (Affinity Capture-MS), PTPN14 (Affinity Capture-MS), LLGL1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), WWC1 (Affinity Capture-MS), PRKCZ (Affinity Capture-MS)
ESM2 similar proteins: A1A5R8, A1L1R5, A2A3K4, A2VDZ4, A5PKL1, A7E379, A8KBE0, B2GUY1, B2RC85, E1B9D8, E9PYQ0, O00444, O00522, O01326, O54852, P0C881, P59111, Q04688, Q08CH7, Q14693, Q1JPG1, Q5R9Z7, Q5RFV8, Q61XX9, Q64702, Q66HB5, Q68FF0, Q6DTM3, Q6EEF3, Q6EMB2, Q6NSI8, Q6S5J6, Q6TNJ1, Q6ZT98, Q8BRB7, Q8CDA1, Q8CDM1, Q8CDP0, Q8K3E5, Q8N157
Diamond homologs: A0A8C0TYJ0, A0A8P0N4K0, A5PKA5, F1MCA7, G5ECY0, O14907, O14910, O35274, O35867, O55164, O61967, O62674, O62675, O62676, O88951, O88952, P31016, P57105, P70175, P70587, P78352, P97879, Q0P5E6, Q0P5F3, Q12959, Q13424, Q13425, Q13884, Q14160, Q15599, Q22638, Q28626, Q28C55, Q2KIB6, Q32LE7, Q32LM6, Q3T0C9, Q3UHD6, Q4H4B6, Q5EBL8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 82 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 |
|---|---|---|---|
| Translocation of SLC2A4 (GLUT4) to the plasma membrane | 5 | 13.5× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 7 | 54.2× | 3e-08 |
| establishment or maintenance of cell polarity | 6 | 32.1× | 9e-06 |
| establishment of cell polarity | 6 | 30.6× | 9e-06 |
| small GTPase-mediated signal transduction | 6 | 14.7× | 6e-04 |
| transmembrane transport | 5 | 11.2× | 6e-03 |
| regulation of actin cytoskeleton organization | 5 | 10.5× | 7e-03 |
| actin filament organization | 6 | 9.5× | 4e-03 |
| intracellular protein localization | 6 | 8.4× | 6e-03 |
Disease & clinical
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 | 37 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
541 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:50737854:TAGT:T | acceptor_loss | 1.0000 |
| 20:50737855:A:AG | acceptor_gain | 1.0000 |
| 20:50737855:AGTTT:A | acceptor_gain | 1.0000 |
| 20:50737856:G:GA | acceptor_gain | 1.0000 |
| 20:50737856:GT:G | acceptor_gain | 1.0000 |
| 20:50737856:GTTT:G | acceptor_gain | 1.0000 |
| 20:50737856:GTTTG:G | acceptor_gain | 1.0000 |
| 20:50738075:GAAGG:G | donor_gain | 1.0000 |
| 20:50738079:GGT:G | donor_loss | 1.0000 |
| 20:50738080:G:GG | donor_gain | 1.0000 |
| 20:50738080:GT:G | donor_loss | 1.0000 |
| 20:50738081:T:A | donor_loss | 1.0000 |
| 20:50731838:G:GT | donor_gain | 0.9900 |
| 20:50731850:AAGGT:A | donor_loss | 0.9900 |
| 20:50731851:AGG:A | donor_loss | 0.9900 |
| 20:50731853:G:GA | donor_loss | 0.9900 |
| 20:50738076:AAGG:A | donor_gain | 0.9900 |
| 20:50738078:GG:G | donor_gain | 0.9900 |
| 20:50738079:GG:G | donor_gain | 0.9900 |
| 20:50738082:AAGTA:A | donor_loss | 0.9900 |
| 20:50738083:AGTAT:A | donor_loss | 0.9900 |
| 20:50749657:A:AG | acceptor_gain | 0.9900 |
| 20:50749658:G:GG | acceptor_gain | 0.9900 |
| 20:50749658:GAA:G | acceptor_gain | 0.9900 |
| 20:50731848:GCAAG:G | donor_gain | 0.9800 |
| 20:50737832:A:G | acceptor_gain | 0.9800 |
| 20:50737854:T:G | acceptor_gain | 0.9800 |
| 20:50737856:GTT:G | acceptor_gain | 0.9800 |
| 20:50738077:AGG:A | donor_gain | 0.9800 |
| 20:50738078:GGG:G | donor_gain | 0.9800 |
AlphaMissense
2469 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:50731846:G:C | K20N | 1.000 |
| 20:50731846:G:T | K20N | 1.000 |
| 20:50731847:A:C | S21R | 1.000 |
| 20:50731849:C:A | S21R | 1.000 |
| 20:50731849:C:G | S21R | 1.000 |
| 20:50737869:T:C | F27L | 1.000 |
| 20:50737870:T:C | F27S | 1.000 |
| 20:50737871:T:A | F27L | 1.000 |
| 20:50737871:T:G | F27L | 1.000 |
| 20:50737872:C:A | R28S | 1.000 |
| 20:50737873:G:C | R28P | 1.000 |
| 20:50737875:C:G | R29G | 1.000 |
| 20:50737878:T:C | F30L | 1.000 |
| 20:50737879:T:C | F30S | 1.000 |
| 20:50737880:T:A | F30L | 1.000 |
| 20:50737880:T:G | F30L | 1.000 |
| 20:50737918:T:C | F43S | 1.000 |
| 20:50737930:T:C | L47P | 1.000 |
| 20:50737941:C:G | H51D | 1.000 |
| 20:50737999:T:C | L70P | 1.000 |
| 20:50738005:T:A | I72K | 1.000 |
| 20:50738005:T:C | I72T | 1.000 |
| 20:50738005:T:G | I72R | 1.000 |
| 20:50738022:T:G | Y78D | 1.000 |
| 20:50738031:G:C | A81P | 1.000 |
| 20:50738032:C:A | A81D | 1.000 |
| 20:50738056:T:A | L89H | 1.000 |
| 20:50738056:T:C | L89P | 1.000 |
| 20:50749784:T:C | F139L | 1.000 |
| 20:50749786:T:A | F139L | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000236645 (20:50752891 G>A,T), RS1000319496 (20:50731572 G>A), RS1000518289 (20:50731523 C>G), RS1000557746 (20:50737373 A>G,T), RS1000939239 (20:50737120 CTTCCTCCCCA>C), RS1000964714 (20:50754172 C>T), RS1000991593 (20:50736817 C>T), RS1001202877 (20:50745746 G>A), RS1001279534 (20:50743434 A>C), RS1001311750 (20:50730944 G>A,C), RS1001471238 (20:50749472 C>G), RS1001642921 (20:50751740 T>G), RS1001653247 (20:50734126 A>C), RS1001763295 (20:50740520 G>A), RS1001884416 (20:50742055 GTGTTT>G,GTGTTTTGTTT)
Disease associations
OMIM: gene MIM:608975 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001164_2 | Bipolar disorder | 3.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
50 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression | 4 |
| trichostatin A | affects cotreatment, decreases expression | 3 |
| ochratoxin A | increases expression, decreases expression | 2 |
| Air Pollutants | increases abundance, affects expression, affects cotreatment, decreases expression | 2 |
| Ozone | increases abundance, affects expression, affects cotreatment, decreases expression | 2 |
| Valproic Acid | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| alpha-pinene | decreases expression, increases abundance, affects cotreatment | 1 |
| bis(tri-n-butyltin)oxide | increases expression | 1 |
| bisphenol A | increases expression | 1 |
| testosterone undecanoate | affects cotreatment, decreases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| tributyltin | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| methylmercury II | increases expression | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| 1-(4-(6-bromobenzo(1,3)dioxol-5-yl)-3a,4,5,9b-tetrahydro-3H-cyclopenta(c)quinolin-8-yl)ethanone | increases phosphorylation | 1 |
| asparanin A | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| NSC 689534 | affects binding, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acrolein | affects cotreatment, decreases expression, increases abundance | 1 |
| Amphotericin B | 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.