CRB3
gene geneOn this page
Also known as MGC17303
Summary
CRB3 (crumbs cell polarity complex component 3, HGNC:20237) is a protein-coding gene on chromosome 19p13.3, encoding Protein crumbs homolog 3 (Q9BUF7). Involved in the establishment of cell polarity in mammalian epithelial cells.
This gene encodes a member of the Crumbs family of proteins. This gene is widely expressed in epithelial tissues where the encoded protein isoforms play various roles such as the control of cytokinesis and ciliogenesis or the formation of tight junctions. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 92359 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 29 total
- MANE Select transcript:
NM_139161
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20237 |
| Approved symbol | CRB3 |
| Name | crumbs cell polarity complex component 3 |
| Location | 19p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC17303 |
| Ensembl gene | ENSG00000130545 |
| Ensembl biotype | protein_coding |
| OMIM | 609737 |
| Entrez | 92359 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000308243, ENST00000356762, ENST00000598494, ENST00000600229
RefSeq mRNA: 3 — MANE Select: NM_139161
NM_139161, NM_174881, NM_174882
CCDS: CCDS12166, CCDS12167
Canonical transcript exons
ENST00000600229 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000895400 | 6465545 | 6465618 |
| ENSE00001160058 | 6464608 | 6464783 |
| ENSE00001518461 | 6464271 | 6464350 |
| ENSE00003053551 | 6466466 | 6467221 |
Expression profiles
Bgee: expression breadth ubiquitous, 191 present calls, max score 96.46.
FANTOM5 (CAGE): breadth broad, TPM avg 2.9679 / max 73.8577, expressed in 497 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 173479 | 2.6192 | 483 |
| 173480 | 0.3487 | 101 |
Top tissues by expression
235 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| lower esophagus mucosa | UBERON:0035834 | 96.46 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 94.84 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 94.60 | gold quality |
| vena cava | UBERON:0004087 | 92.94 | silver quality |
| kidney epithelium | UBERON:0004819 | 92.13 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 91.87 | silver quality |
| esophagus mucosa | UBERON:0002469 | 91.46 | gold quality |
| upper arm skin | UBERON:0004263 | 90.90 | silver quality |
| body of pancreas | UBERON:0001150 | 90.78 | gold quality |
| parotid gland | UBERON:0001831 | 90.57 | silver quality |
| body of tongue | UBERON:0011876 | 90.52 | silver quality |
| tongue | UBERON:0001723 | 89.53 | silver quality |
| pylorus | UBERON:0001166 | 89.50 | silver quality |
| skin of leg | UBERON:0001511 | 89.46 | gold quality |
| skin of abdomen | UBERON:0001416 | 89.20 | gold quality |
| duodenum | UBERON:0002114 | 89.11 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 89.10 | gold quality |
| amniotic fluid | UBERON:0000173 | 88.71 | gold quality |
| trachea | UBERON:0003126 | 88.42 | gold quality |
| nipple | UBERON:0002030 | 87.99 | gold quality |
| pancreatic ductal cell | CL:0002079 | 87.85 | silver quality |
| superior surface of tongue | UBERON:0007371 | 87.84 | gold quality |
| zone of skin | UBERON:0000014 | 87.59 | gold quality |
| gingival epithelium | UBERON:0001949 | 87.36 | silver quality |
| metanephros cortex | UBERON:0010533 | 87.12 | gold quality |
| right lobe of liver | UBERON:0001114 | 86.97 | gold quality |
| pancreas | UBERON:0001264 | 86.96 | gold quality |
| pericardium | UBERON:0002407 | 86.81 | silver quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 86.74 | silver quality |
| substantia nigra pars reticulata | UBERON:0001966 | 86.54 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8142 | yes | 124.34 |
| E-ANND-3 | yes | 14.78 |
| E-MTAB-9388 | yes | 12.97 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HNF4A
miRNA regulators (miRDB)
35 targeting CRB3, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-548AZ-5P | 99.83 | 69.94 | 3230 |
| HSA-MIR-548T-5P | 99.83 | 69.91 | 3220 |
| HSA-MIR-4766-5P | 99.75 | 69.23 | 2662 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-410-3P | 99.27 | 69.98 | 2457 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-4999-3P | 99.11 | 65.55 | 424 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-1227-5P | 98.65 | 65.32 | 1549 |
| HSA-MIR-218-1-3P | 98.63 | 67.97 | 832 |
| HSA-MIR-4722-5P | 98.46 | 66.34 | 1611 |
| HSA-MIR-6838-3P | 98.40 | 65.88 | 559 |
| HSA-MIR-6864-5P | 98.38 | 66.59 | 1079 |
| HSA-MIR-6742-3P | 97.95 | 64.50 | 1490 |
| HSA-MIR-30C-1-3P | 97.80 | 66.36 | 1499 |
| HSA-MIR-30C-2-3P | 97.80 | 66.45 | 1499 |
| HSA-MIR-6788-5P | 97.80 | 66.41 | 1532 |
| HSA-MIR-4723-3P | 97.67 | 65.91 | 1017 |
Literature-anchored findings (GeneRIF, showing 19)
- the Crumbs3-Pals1 complex has a role in development of polarity in mammalian epithelial cells (PMID:12771187)
- CRB3, through its cytoplasmic domain and its interactors, plays a role in apical membrane morphogenesis and tight junction regulation. (PMID:14718572)
- The crumbs3 protein plays an important role in epithelial tight junction formation, and also provide the first known functional role for the mammalian Crumbs FERM binding domain. (PMID:15976445)
- Data show that a novel Crumbs3 isoform regulates cell division and ciliogenesis via importin beta1 interactions. (PMID:17646395)
- overexpression of human CRB1 and related isoforms, CRB2 and CRB3, had no effect on the levels of presenilin complex components, on NCT maturation or on PS endoproteolysis (PMID:17988153)
- Morg1 facilitates Par6-aPKC binding to Crb3 for definition of apical identity of epithelial cells. (PMID:23439680)
- our data demonstrated that CRB3 may be used as a new independent favorable prognostic factor for human ccRCC (PMID:25406012)
- CRB3A recruits p114RhoGEF and its activator Ehm2 to the cell periphery using both functional motifs of its cytoplasmic tail and increases RhoA activation levels. (PMID:26217016)
- Data show different intracellular mobility patterns for crumbs 3 proteins Crb3A and Crb3B. (PMID:26975581)
- we report for the first time that CRB3 acts as an upstream regulator of the Hippo pathway to regulate contact inhibition by recruiting other Hippo molecules, such as Kibra and/or FRMD6, in mammary epithelial cells. (PMID:28079891)
- CRB3 is an important regulator for breast cancer stemness, which is associated with tamoxifen resistance.Association between CRB3 and beta-catenin expression levels correlates with tamoxifen resistance of breast cancer. (PMID:29602199)
- We found that CRB3-induced proliferation is epidermal growth factor (EGF)-independent and occurs through a mechanism that involves secretion of the EGF-family ligand, amphiregulin (AREG)..We identified the FBD-containing protein, EPB41L4B, as an essential mediator of CRB3-driven proliferation and observed that the CRB3-dependent changes in endocytic trafficking were also dependent on EPB41L4B (PMID:30440051)
- CRB3 strongly promotes tumor invasion and metastasis of human colon adenocarcinoma cells. Correlative expression between CRB3 and FGFR1 was consistently detected in primary and metastatic colorectal cancer patient tissues. Taking these together, CRB3 critically accelerates cell migration, namely invasion and metastasis of human colon cancers, through specific interaction to FGFR1 on colon cancer cells. (PMID:30980524)
- Crumbs protein homolog 3 (CRB3) expression is associated with oestrogen and progesterone receptor positivity in breast cancer. (PMID:31087799)
- CRB3 DNA methylation negatively correlated with CRB3 mRNA expression. CRB3 DNA methylation was also related to pathologic stage, T stage, N stage, and M stage of ccRCC. (PMID:31147860)
- Knockout (KO) of apical polarity determinant Crumbs 3 (Crb3) enhances Adeno-associated viruses (AAV) transduction, while overexpression exerts the opposite effect. Crb3 restricts AAV transduction in a serotype- and cell type-specific manner. Increased availability of galactosylated glycans on the surfaces of Crb3 KO cells, but not the universal AAV receptor, leads to increased capsid attachment and enhanced transduction. (PMID:31391273)
- The Crb3 may promote colon cancer cell migration by regulating the expression of GSLs on the cell surface. (PMID:31500807)
- Aberrant epithelial polarity cues drive the development of precancerous airway lesions. (PMID:33903236)
- Fructose-bisphosphatase1 (FBP1) alleviates experimental osteoarthritis by regulating Protein crumbs homolog 3 (CRB3). (PMID:38049890)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Crb3 | ENSMUSG00000044279 |
| rattus_norvegicus | Crb3 | ENSRNOG00000070099 |
Paralogs (3): SCARF1 (ENSG00000074660), CRB2 (ENSG00000148204), SCARF2 (ENSG00000244486)
Protein
Protein identifiers
Protein crumbs homolog 3 — Q9BUF7 (reviewed: Q9BUF7)
All UniProt accessions (1): Q9BUF7
UniProt curated annotations — full annotation on UniProt →
Function. Involved in the establishment of cell polarity in mammalian epithelial cells. Regulates the morphogenesis of tight junctions. Involved in promoting phosphorylation and cytoplasmic retention of transcriptional coactivators YAP1 and WWTR1/TAZ which leads to suppression of TGFB1-dependent transcription of target genes such as CCN2/CTGF, SERPINE1/PAI1, SNAI1/SNAIL1 and SMAD7.
Subunit / interactions. Component of a complex composed of CRB3, PALS1 and PATJ. Interacts (via C-terminus) with PALS1 (via PDZ domain). Interacts with PARD6A. Interacts (via intracellular domain) with EPB41L5. Interacts with WDR83.
Subcellular location. Apical cell membrane. Cell junction. Tight junction.
Tissue specificity. Preferentially expressed in epithelial tissues. Expressed at high levels in lung, kidney, and colon. Expressed at high levels in retina, colon and mammary glands. Moderately expressed in liver, spleen, pancreas and prostate. Moderately to weakly expressed in the placenta. Weakly expressed in skeletal muscle and small intestine.
Domain organisation. The PDZ-binding motif is involved in the interactions with PARD6A and PALS1.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BUF7-1 | 1, A | yes |
| Q9BUF7-2 | 2, B |
RefSeq proteins (3): NP_631900, NP_777377, NP_777378 (=MANE)
Domains & families (InterPro)
UniProt features (14 total): mutagenesis site 2, topological domain 2, region of interest 2, signal peptide 1, chain 1, splice variant 1, strand 1, transmembrane region 1, short sequence motif 1, compositionally biased region 1, glycosylation site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5I7Z | X-RAY DIFFRACTION | 1.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BUF7-F1 | 69.83 | 0.14 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (1): 36
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 36 | abolishes n-glycosylation. no effect on localization to the apical cell membrane. |
| 117–120 | loss of interaction with pard6a and pals1. no effect on interaction with epb41l5. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-420029 | Tight junction interactions |
| R-HSA-9705677 | SARS-CoV-2 targets PDZ proteins in cell-cell junction |
MSigDB gene sets: 120 (showing top):
GOBP_ESTABLISHMENT_OR_MAINTENANCE_OF_CELL_POLARITY, AREB6_03, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, AREB6_01, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, KEGG_TIGHT_JUNCTION, HNF1_Q6, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CELL_JUNCTION_ORGANIZATION, WANG_LMO4_TARGETS_DN, GOBP_POSITIVE_REGULATION_OF_CELL_JUNCTION_ASSEMBLY
GO Biological Process (4): establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197), protein localization to plasma membrane (GO:0072659), tight junction organization (GO:0120193), positive regulation of cell junction assembly (GO:1901890)
GO Molecular Function (3): SH3 domain binding (GO:0017124), protein domain specific binding (GO:0019904), protein binding (GO:0005515)
GO Cellular Component (12): plasma membrane (GO:0005886), bicellular tight junction (GO:0005923), apical plasma membrane (GO:0016324), cell junction (GO:0030054), subapical complex (GO:0035003), apical junction complex (GO:0043296), extracellular exosome (GO:0070062), tight junction (GO:0070160), 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 |
| SARS-CoV-2-host interactions | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| apical junction complex | 2 |
| cell-cell junction | 2 |
| establishment or maintenance of apical/basal cell polarity | 1 |
| protein localization to membrane | 1 |
| protein localization to cell periphery | 1 |
| cell-cell junction organization | 1 |
| cell junction assembly | 1 |
| positive regulation of cellular component biogenesis | 1 |
| positive regulation of cellular component organization | 1 |
| regulation of cell junction assembly | 1 |
| protein domain specific binding | 1 |
| protein binding | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| tight junction | 1 |
| apical part of cell | 1 |
| plasma membrane region | 1 |
| plasma membrane protein complex | 1 |
| extracellular vesicle | 1 |
| cellular_component | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
506 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CRB3 | PALS1 | Q8N3R9 | 999 |
| CRB3 | PATJ | Q8NI35 | 998 |
| CRB3 | CRB2 | Q5IJ48 | 904 |
| CRB3 | EPB41L5 | Q9HCM4 | 825 |
| CRB3 | LIN7C | Q9NUP9 | 797 |
| CRB3 | NXN | Q6DKJ4 | 760 |
| CRB3 | EZR | P15311 | 735 |
| CRB3 | LLGL2 | Q6P1M3 | 724 |
| CRB3 | TJP1 | Q07157 | 723 |
| CRB3 | CNTNAP1 | P78357 | 682 |
| CRB3 | PARD3 | Q8TEW0 | 682 |
| CRB3 | AMOT | Q4VCS5 | 658 |
| CRB3 | SCRIB | Q14160 | 656 |
| CRB3 | EPB41 | P11171 | 642 |
| CRB3 | ZEB1 | P37275 | 638 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PALS1 | E | psi-mi:“MI:0915”(physical association) | 0.600 |
| PSMA3 | CRB3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PALS1 | AMOTL1 | psi-mi:“MI:0914”(association) | 0.530 |
| CRB3 | EPB41L5 | psi-mi:“MI:0915”(physical association) | 0.520 |
| EPB41L5 | CRB3 | psi-mi:“MI:0915”(physical association) | 0.520 |
| PALS1 | CRB3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RAB11FIP5 | CRB3 | psi-mi:“MI:0403”(colocalization) | 0.270 |
BioGRID (32): CRB3 (Two-hybrid), CRB3 (Reconstituted Complex), CRB3 (Two-hybrid), CRB3 (Two-hybrid), CRB3 (Two-hybrid), CRB3 (Two-hybrid), CRB3 (Two-hybrid), CRB3 (Two-hybrid), CRB3 (Two-hybrid), CRB3 (Two-hybrid), CRB3 (Two-hybrid), CRB3 (Two-hybrid), CRB3 (Two-hybrid), CRB3 (Two-hybrid), VAMP1 (Two-hybrid)
ESM2 similar proteins: A0A1B0GW64, A0A5F4BST2, A0PJX4, A8MVS5, A8MWV9, B0FP48, E5RIL1, E9PGG2, O14836, O60320, O95998, P09564, Q01113, Q01114, Q13477, Q2KI80, Q2T9R2, Q3TS39, Q3UPR0, Q3URD2, Q4V9L6, Q5FVJ4, Q5M869, Q6A044, Q6UWJ8, Q75VT8, Q864V4, Q8BRJ3, Q8BX43, Q8C503, Q8IVY1, Q8K5A9, Q8N112, Q8NC24, Q8NDY8, Q8QZT4, Q8R138, Q969Z4, Q9BUF7, Q9CQM1
Diamond homologs: A0A5F4BST2, Q8QZT4, Q9BUF7, A0A1F4, A4FV93, D3ZHH1, F1RWC3, O60494, P00744, P07225, P10040, P49013, P53813, Q08761, Q0V8T4, Q28520, Q3KN41, Q5IJ48, Q6DCQ6, Q80YA8, Q8VHS2, Q9NYJ7, Q9NYQ8, Q9TU53, O14594, O35474, O75095, O88516, O88671, P16296, P18168, P55066, P55067, Q05793, Q0V8T7, Q5IS41, Q5ZQU0, Q70E20, Q8TER0, Q90953
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CRB3 | up-regulates | AMOT/MPP5/INADL/LIN7C | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
29 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 23 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
407 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:6464779:GCAAA:G | donor_gain | 1.0000 |
| 19:6464782:AA:A | donor_gain | 1.0000 |
| 19:6464784:G:GG | donor_gain | 1.0000 |
| 19:6465541:A:AG | acceptor_gain | 1.0000 |
| 19:6465543:A:AG | acceptor_gain | 1.0000 |
| 19:6465544:G:GT | acceptor_gain | 1.0000 |
| 19:6465544:GT:G | acceptor_gain | 1.0000 |
| 19:6465544:GTAC:G | acceptor_gain | 1.0000 |
| 19:6465544:GTACA:G | acceptor_gain | 1.0000 |
| 19:6465617:TGG:T | donor_loss | 1.0000 |
| 19:6465618:GGTG:G | donor_loss | 1.0000 |
| 19:6466461:T:TA | acceptor_gain | 1.0000 |
| 19:6466461:TGCA:T | acceptor_loss | 1.0000 |
| 19:6466462:GCAGC:G | acceptor_loss | 1.0000 |
| 19:6466464:A:AG | acceptor_gain | 1.0000 |
| 19:6466464:AGC:A | acceptor_gain | 1.0000 |
| 19:6466465:G:GC | acceptor_gain | 1.0000 |
| 19:6466465:GC:G | acceptor_gain | 1.0000 |
| 19:6466465:GCG:G | acceptor_gain | 1.0000 |
| 19:6466465:GCGT:G | acceptor_gain | 1.0000 |
| 19:6466465:GCGTC:G | acceptor_gain | 1.0000 |
| 19:6466509:T:A | acceptor_gain | 1.0000 |
| 19:6464327:C:G | donor_gain | 0.9900 |
| 19:6464603:CCCA:C | acceptor_loss | 0.9900 |
| 19:6464604:CCA:C | acceptor_loss | 0.9900 |
| 19:6464605:CA:C | acceptor_loss | 0.9900 |
| 19:6464606:A:C | acceptor_loss | 0.9900 |
| 19:6464607:G:GA | acceptor_loss | 0.9900 |
| 19:6465534:A:AG | acceptor_gain | 0.9900 |
| 19:6465535:C:G | acceptor_gain | 0.9900 |
AlphaMissense
742 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:6466665:T:A | L119H | 0.994 |
| 19:6466668:T:A | I120N | 0.991 |
| 19:6466668:T:C | I120T | 0.990 |
| 19:6466665:T:C | L119P | 0.988 |
| 19:6466659:A:T | E117V | 0.986 |
| 19:6466668:T:G | I120S | 0.985 |
| 19:6466580:G:T | G91C | 0.984 |
| 19:6466586:T:C | Y93H | 0.983 |
| 19:6466580:G:C | G91R | 0.982 |
| 19:6466658:G:A | E117K | 0.974 |
| 19:6466660:G:C | E117D | 0.974 |
| 19:6466660:G:T | E117D | 0.974 |
| 19:6466586:T:G | Y93D | 0.972 |
| 19:6466587:A:G | Y93C | 0.970 |
| 19:6466592:C:T | P95S | 0.969 |
| 19:6466659:A:C | E117A | 0.969 |
| 19:6466569:G:C | R87P | 0.968 |
| 19:6466662:G:C | R118P | 0.968 |
| 19:6466661:C:G | R118G | 0.967 |
| 19:6466586:T:A | Y93N | 0.966 |
| 19:6466593:C:A | P95H | 0.966 |
| 19:6466647:T:C | L113S | 0.963 |
| 19:6466581:G:T | G91V | 0.960 |
| 19:6466532:G:A | G75R | 0.957 |
| 19:6466532:G:C | G75R | 0.957 |
| 19:6466581:G:A | G91D | 0.956 |
| 19:6466659:A:G | E117G | 0.955 |
| 19:6466595:A:C | S96R | 0.954 |
| 19:6466597:T:A | S96R | 0.954 |
| 19:6466597:T:G | S96R | 0.954 |
dbSNP variants (sampled 300 via entrez): RS1000198635 (19:6463272 G>A), RS1000646940 (19:6462581 G>A), RS1001386900 (19:6464650 G>A), RS1001412854 (19:6461876 G>A), RS1001421289 (19:6467408 T>C,G), RS1002317630 (19:6463742 GC>G), RS1002473038 (19:6466266 G>C), RS1003474893 (19:6465066 G>T), RS1004427090 (19:6463633 G>A), RS1004479449 (19:6463899 T>A), RS1004568393 (19:6463373 A>G), RS1004668734 (19:6467441 C>A), RS1004698440 (19:6467101 C>A,T), RS1005156152 (19:6462172 A>G), RS1005433925 (19:6462218 T>C)
Disease associations
OMIM: gene MIM:609737 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
18 total (human), top 18 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | affects expression, increases expression | 4 |
| Air Pollutants | decreases expression, increases abundance, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| Particulate Matter | increases abundance, increases expression, decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| sulforaphane | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| abrine | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Amiodarone | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Lead | increases expression | 1 |
| Mustard Gas | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Lactic Acid | decreases 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.