CTNNAL1
gene geneOn this page
Also known as CLLPalpha-CATU
Summary
CTNNAL1 (catenin alpha like 1, HGNC:2512) is a protein-coding gene on chromosome 9q31.3, encoding Alpha-catulin (Q9UBT7). May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor (ARHGEF1).
Predicted to enable actin filament binding activity and cadherin binding activity. Acts upstream of or within Rho protein signal transduction. Located in cytosol.
Source: NCBI Gene 8727 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 84 total
- MANE Select transcript:
NM_003798
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2512 |
| Approved symbol | CTNNAL1 |
| Name | catenin alpha like 1 |
| Location | 9q31.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CLLP, alpha-CATU |
| Ensembl gene | ENSG00000119326 |
| Ensembl biotype | protein_coding |
| OMIM | 604785 |
| Entrez | 8727 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 12 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000325551, ENST00000374593, ENST00000374594, ENST00000374595, ENST00000488130, ENST00000863428, ENST00000916573, ENST00000964500, ENST00000964501, ENST00000964502, ENST00000964503, ENST00000964504, ENST00000964505
RefSeq mRNA: 2 — MANE Select: NM_003798
NM_001286974, NM_003798
CCDS: CCDS6775, CCDS69638
Canonical transcript exons
ENST00000325551 — 19 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000805982 | 108942961 | 108943044 |
| ENSE00000805985 | 108943703 | 108943816 |
| ENSE00000805986 | 108943962 | 108944018 |
| ENSE00000805989 | 108948186 | 108948234 |
| ENSE00000805997 | 108965378 | 108965528 |
| ENSE00000805998 | 108970402 | 108970494 |
| ENSE00000806001 | 108976962 | 108977048 |
| ENSE00000806004 | 108983145 | 108983315 |
| ENSE00000806005 | 108984347 | 108984436 |
| ENSE00000806006 | 108990726 | 108990845 |
| ENSE00000806008 | 108999067 | 108999256 |
| ENSE00001034206 | 108955790 | 108955827 |
| ENSE00001137056 | 108992632 | 108992819 |
| ENSE00001143716 | 108979281 | 108979481 |
| ENSE00001867748 | 109013302 | 109013499 |
| ENSE00001908714 | 108942577 | 108942834 |
| ENSE00003559836 | 108952444 | 108952494 |
| ENSE00003580907 | 108952209 | 108952363 |
| ENSE00003603073 | 108972675 | 108972833 |
Expression profiles
Bgee: expression breadth ubiquitous, 285 present calls, max score 99.16.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.3287 / max 468.0629, expressed in 1775 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 101871 | 35.1227 | 1768 |
| 101869 | 1.2204 | 759 |
| 101870 | 0.5626 | 330 |
| 101868 | 0.4230 | 200 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland cortex | UBERON:0035827 | 99.16 | gold quality |
| right adrenal gland | UBERON:0001233 | 99.09 | gold quality |
| left adrenal gland | UBERON:0001234 | 98.99 | gold quality |
| adrenal cortex | UBERON:0001235 | 98.98 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 98.96 | gold quality |
| adrenal tissue | UBERON:0018303 | 98.75 | gold quality |
| adrenal gland | UBERON:0002369 | 98.60 | gold quality |
| tibial nerve | UBERON:0001323 | 98.01 | gold quality |
| left ovary | UBERON:0002119 | 97.64 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.32 | gold quality |
| thyroid gland | UBERON:0002046 | 97.22 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 96.94 | gold quality |
| ovary | UBERON:0000992 | 96.89 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 96.86 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.69 | gold quality |
| cartilage tissue | UBERON:0002418 | 96.48 | gold quality |
| right ovary | UBERON:0002118 | 96.47 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 96.42 | gold quality |
| olfactory bulb | UBERON:0002264 | 96.14 | gold quality |
| cardiac atrium | UBERON:0002081 | 95.75 | gold quality |
| right atrium auricular region | UBERON:0006631 | 95.75 | gold quality |
| myocardium | UBERON:0002349 | 95.73 | gold quality |
| vena cava | UBERON:0004087 | 95.39 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 95.35 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 94.88 | gold quality |
| heart | UBERON:0000948 | 94.69 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.63 | gold quality |
| heart left ventricle | UBERON:0002084 | 94.58 | gold quality |
| cardiac ventricle | UBERON:0002082 | 94.50 | gold quality |
| right testis | UBERON:0004534 | 94.37 | gold quality |
Single-cell (SCXA)
Detected in 10 experiment(s), a significant marker in 8.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6308 | yes | 1161.49 |
| E-HCAD-11 | yes | 23.42 |
| E-HCAD-10 | yes | 16.94 |
| E-HCAD-9 | yes | 16.44 |
| E-MTAB-6678 | yes | 12.36 |
| E-MTAB-8271 | yes | 6.99 |
| E-GEOD-130148 | yes | 6.39 |
| E-MTAB-6524 | no | 212.02 |
| E-MTAB-10137 | no | 6.70 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FOXC1, LEF1, TFAP2A
miRNA regulators (miRDB)
18 targeting CTNNAL1, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-4328 | 99.57 | 71.06 | 4094 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-520A-5P | 99.35 | 66.72 | 1632 |
| HSA-MIR-525-5P | 99.35 | 66.85 | 1615 |
| HSA-MIR-2115-3P | 99.31 | 69.68 | 2026 |
| HSA-MIR-16-2-3P | 99.29 | 70.60 | 1954 |
| HSA-MIR-195-3P | 99.29 | 70.61 | 1954 |
| HSA-MIR-3606-3P | 99.11 | 69.84 | 3254 |
| HSA-MIR-6755-3P | 98.61 | 66.90 | 834 |
| HSA-MIR-4275 | 97.96 | 68.42 | 1549 |
| HSA-MIR-383-5P | 96.86 | 67.55 | 820 |
| HSA-MIR-4750-3P | 96.65 | 64.38 | 512 |
| HSA-MIR-4772-5P | 95.60 | 68.04 | 617 |
Literature-anchored findings (GeneRIF, showing 20)
- alpha-catulin maps precisely to the familial dysautonomia candidate region on 9q31. (PMID:11768226)
- Results show that alpha-catulin co-expression leads to increased Lbc-induced serum response factor activation and may modulate Rho pathway signaling in vivo by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor. (PMID:12270917)
- Abnormal expression of alpha-catenin was seen in mucoepidermoid carcinoma. (PMID:12694354)
- alpha-catenin and alpha-catulin have distinct activities that downregulate, respectively, beta-catenin and Ras signals converging on the cyclin D1 promoter (PMID:14993280)
- CTNNAL1 mRNA expression is highly correlated to airway resistance; CTNNAL1 may contribute to the wound repair and proliferation of HBEC. Furthermore, it may serve to Fn mediated cell-extracellular adhesion and its signal transduction. (PMID:17647259)
- Alpha-catulin has tumorigenic potential. (PMID:17952117)
- Seven placental transcripts characterize HELLP-syndrome. (PMID:18374411)
- the Lbc/alpha-catulin axis participates in 5-HT-induced PASMC mitogenesis and RhoA/ROCK signaling, and may be an interventional target in diseases involving vascular smooth muscle remodeling. (PMID:20696764)
- Data show that alpha-dystrobrevin-1 recruits alpha-catulin, which supersensitizes alpha(1D)-AR functional responses by recruiting effector molecules to the signalosome. (PMID:21115837)
- Study provides evidence that alpha-catulin promotes tumor growth by preventing cellular senescence and suggests that downregulating alpha-catulin may be a promising therapeutic approach for cancer treatment. (PMID:21278790)
- a robust transcriptional CTNNAL1 up-regulation occurs during acute ozone-induced stress and is mediated at least in part by ozone-induced recruitments of LEF-1 and AP-2alpha to the human CTNNAL1 promoter (PMID:22359570)
- these results strongly indicate that alpha-catulin contributes to the invasive behavior of metastatic cells and may be used as a prognostic marker and future therapeutic target for patients with cancer. (PMID:22648798)
- findings show that alpha-catulin is highly expressed in melanoma cells; expression of alpha-catulin promoted melanoma progression and occurred concomitantly with the downregulation of E-cadherin and the upregulation of expression of mesenchymal genes (PMID:22733455)
- our study shows that alpha-catulin plays a critical role in cancer metastasis (PMID:23047866)
- Alpha-catulin contributes to drug-resistance of melanoma by activating NF-kappaB and AP-1 (PMID:25793618)
- These data indicated that upregulated expression of alpha-catulin protein might have impact on the tumorigenesis of head and neck squamous cell carcinoma (PMID:26311049)
- CTNNAL1 may play a role in airway EMT by repressing the expression of Twist1 mRNA and reducing the level of TGF-beta1. (PMID:29791759)
- Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of Hirschsprung disease. (PMID:32139661)
- alpha-Catulin promotes cancer stemness by antagonizing WWP1-mediated KLF5 degradation in lung cancer. (PMID:35154481)
- CTNNAL1 deficiency suppresses CFTR expression in HDM-induced asthma mouse model through ROCK1-CAL signaling pathway. (PMID:37715489)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ctnnal1 | ENSDARG00000018162 |
| mus_musculus | Ctnnal1 | ENSMUSG00000038816 |
| rattus_norvegicus | Ctnnal1 | ENSRNOG00000010593 |
| drosophila_melanogaster | alpha-Catr | FBGN0029105 |
| caenorhabditis_elegans | ctn-1 | WBGENE00000832 |
Paralogs (4): VCL (ENSG00000035403), CTNNA1 (ENSG00000044115), CTNNA2 (ENSG00000066032), CTNNA3 (ENSG00000183230)
Protein
Protein identifiers
Alpha-catulin — Q9UBT7 (reviewed: Q9UBT7)
Alternative names: Alpha-catenin-related protein, Catenin alpha-like protein 1
All UniProt accessions (3): Q9UBT7, Q5JTQ6, Q5JTQ9
UniProt curated annotations — full annotation on UniProt →
Function. May modulate the Rho pathway signaling by providing a scaffold for the Lbc Rho guanine nucleotide exchange factor (ARHGEF1).
Subunit / interactions. Interacts with ARHGEF1. Interacts with DTNA. The interaction is required for correct localization of both CTNL1 and DTNA.
Subcellular location. Cytoplasm. Cytoskeleton. Cell membrane.
Tissue specificity. Widely expressed. Expressed at lower level in neural tissues and at the highest level in the adrenal gland.
Induction. Down-regulated in cancer pancreatic cells undergoing differentiation and apoptosis.
Similarity. Belongs to the vinculin/alpha-catenin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UBT7-1 | 1 | yes |
| Q9UBT7-2 | 2, Alpha2-catulin | |
| Q9UBT7-3 | 3 |
RefSeq proteins (2): NP_001273903, NP_003789* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001033 | Alpha_catenin | Family |
| IPR006077 | Vinculin/catenin | Family |
| IPR030045 | CTNNAL1 | Family |
| IPR036723 | Alpha-catenin/vinculin-like_sf | Homologous_superfamily |
Pfam: PF01044
UniProt features (13 total): sequence variant 7, modified residue 2, splice variant 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UBT7-F1 | 84.60 | 0.66 |
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 (2): 374, 538
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 229 (showing top):
CHIANG_LIVER_CANCER_SUBCLASS_UNANNOTATED_DN, MODULE_503, CEBPB_01, LINDGREN_BLADDER_CANCER_CLUSTER_2A_DN, MAHAJAN_RESPONSE_TO_IL1A_DN, MODULE_195, FOSTER_TOLERANT_MACROPHAGE_UP, MARTINEZ_RB1_TARGETS_DN, BACH2_01, WTGAAAT_UNKNOWN, FOXJ2_01, TGANTCA_AP1_C, WANG_CISPLATIN_RESPONSE_AND_XPC_DN, MODULE_147, OUYANG_PROSTATE_CANCER_PROGRESSION_DN
GO Biological Process (2): cell adhesion (GO:0007155), Rho protein signal transduction (GO:0007266)
GO Molecular Function (3): cadherin binding (GO:0045296), actin filament binding (GO:0051015), protein binding (GO:0005515)
GO Cellular Component (5): cytosol (GO:0005829), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| cellular process | 1 |
| small GTPase-mediated signal transduction | 1 |
| cell adhesion molecule binding | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| binding | 1 |
| cytoplasm | 1 |
| intracellular membraneless organelle | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1160 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CTNNAL1 | ACTL7A | Q9Y615 | 950 |
| CTNNAL1 | ACTL7B | Q9Y614 | 935 |
| CTNNAL1 | AKAP13 | Q12802 | 817 |
| CTNNAL1 | DTNA | Q9Y4J8 | 727 |
| CTNNAL1 | RHOA | P06749 | 589 |
| CTNNAL1 | ARHGEF28 | Q8N1W1 | 559 |
| CTNNAL1 | DMD | P11532 | 548 |
| CTNNAL1 | FGD5 | Q6ZNL6 | 531 |
| CTNNAL1 | CTNNB1 | P35222 | 526 |
| CTNNAL1 | ILK | P57043 | 471 |
| CTNNAL1 | IKBKB | O14920 | 469 |
| CTNNAL1 | HOXB5 | P09067 | 461 |
| CTNNAL1 | GRPEL2 | Q8TAA5 | 453 |
| CTNNAL1 | ABITRAM | Q9NX38 | 453 |
| CTNNAL1 | VCL | P18206 | 444 |
IntAct
100 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DMD | DTNB | psi-mi:“MI:0914”(association) | 0.890 |
| CTNNAL1 | DMD | psi-mi:“MI:0915”(physical association) | 0.880 |
| DMD | CTNNAL1 | psi-mi:“MI:0915”(physical association) | 0.880 |
| CTNNAL1 | DMD | psi-mi:“MI:0914”(association) | 0.880 |
| CTNNAL1 | RNF135 | psi-mi:“MI:0915”(physical association) | 0.780 |
| RNF135 | CTNNAL1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| ADRA1D | UTRN | psi-mi:“MI:0915”(physical association) | 0.770 |
| LRFN4 | NCK2 | psi-mi:“MI:0914”(association) | 0.730 |
| ADRA1D | CTNNAL1 | psi-mi:“MI:0914”(association) | 0.710 |
| RHPN1 | PODXL | psi-mi:“MI:0914”(association) | 0.690 |
| CTNNAL1 | CBY2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| CBY2 | CTNNAL1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SNTB2 | CASK | psi-mi:“MI:0914”(association) | 0.670 |
| CTNNAL1 | DTNA | psi-mi:“MI:0915”(physical association) | 0.620 |
| DTNA | CTNNAL1 | psi-mi:“MI:0403”(colocalization) | 0.620 |
| ADRA1D | LIN7A | psi-mi:“MI:0914”(association) | 0.590 |
| SLC16A3 | CASK | psi-mi:“MI:0914”(association) | 0.590 |
| CTNNAL1 | PLCB2 | psi-mi:“MI:0915”(physical association) | 0.580 |
| CTNNAL1 | BRME1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| USH1C | CTNNAL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BRME1 | CTNNAL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (85): CTNNAL1 (Two-hybrid), USH1C (Two-hybrid), C19orf57 (Two-hybrid), RNF135 (Two-hybrid), SPERT (Two-hybrid), CTNNAL1 (Synthetic Lethality), CTNNAL1 (Proximity Label-MS), CTNNAL1 (Affinity Capture-MS), CTNNAL1 (Affinity Capture-MS), CTNNAL1 (Affinity Capture-MS), CTNNAL1 (Affinity Capture-MS), CTNNAL1 (Affinity Capture-MS), CTNNAL1 (Affinity Capture-MS), CTNNAL1 (Affinity Capture-MS), CTNNAL1 (Affinity Capture-MS)
ESM2 similar proteins: A2CEI4, A3KNI7, B7ZC77, E7FBU4, G8JYB2, O35095, O43156, O46037, O75800, O88327, O95273, P0DX19, P26231, P35220, P35221, Q08CY4, Q0V9L1, Q14746, Q2KIZ9, Q2KJ97, Q3MHM6, Q3TVC7, Q4R809, Q59I72, Q5BK06, Q5RC06, Q5RFN4, Q5U4I3, Q65CL1, Q69ZR2, Q6GPP1, Q6NVK9, Q6NY52, Q7T006, Q803M5, Q8BTG3, Q8C3S2, Q8JGR7, Q8K2Z4, Q91V83
Diamond homologs: G8JYB2, O88327, Q5RC06, Q9UBT7, P26232, P30997, Q5R416, Q61301, A4IGI7, B7ZC77, P26231, P35220, P35221, P90947, Q04615, Q3MHM6, Q59I72, Q65CL1, Q6GLP0, Q9PVF8, Q9UI47
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 76 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 |
|---|---|---|---|
| Formation of the dystrophin-glycoprotein complex (DGC) | 6 | 34.9× | 5e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
84 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 67 |
| Likely benign | 3 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3507 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:108942956:CTCA:C | donor_loss | 1.0000 |
| 9:108942957:TCA:T | donor_loss | 1.0000 |
| 9:108942958:CACCT:C | donor_loss | 1.0000 |
| 9:108942959:A:C | donor_loss | 1.0000 |
| 9:108942960:C:CG | donor_loss | 1.0000 |
| 9:108942960:CCTT:C | donor_gain | 1.0000 |
| 9:108943041:CAAC:C | acceptor_gain | 1.0000 |
| 9:108943042:AACC:A | acceptor_loss | 1.0000 |
| 9:108943045:CTA:C | acceptor_loss | 1.0000 |
| 9:108943046:T:A | acceptor_loss | 1.0000 |
| 9:108943698:TTTA:T | donor_loss | 1.0000 |
| 9:108943700:TACCT:T | donor_loss | 1.0000 |
| 9:108943702:C:G | donor_loss | 1.0000 |
| 9:108943740:A:AC | donor_gain | 1.0000 |
| 9:108943741:C:CC | donor_gain | 1.0000 |
| 9:108943741:CTGT:C | donor_gain | 1.0000 |
| 9:108943813:TCAG:T | acceptor_gain | 1.0000 |
| 9:108943814:CAG:C | acceptor_gain | 1.0000 |
| 9:108943814:CAGC:C | acceptor_gain | 1.0000 |
| 9:108943816:GCTG:G | acceptor_loss | 1.0000 |
| 9:108943817:C:CC | acceptor_gain | 1.0000 |
| 9:108943817:C:T | acceptor_loss | 1.0000 |
| 9:108952238:A:AC | donor_gain | 1.0000 |
| 9:108952239:C:CC | donor_gain | 1.0000 |
| 9:108952239:CTGGA:C | donor_gain | 1.0000 |
| 9:108952271:ATTCT:A | donor_gain | 1.0000 |
| 9:108952438:TCTTA:T | donor_loss | 1.0000 |
| 9:108952439:CTTA:C | donor_loss | 1.0000 |
| 9:108952440:TTACC:T | donor_loss | 1.0000 |
| 9:108952441:TAC:T | donor_loss | 1.0000 |
AlphaMissense
4824 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:108984360:A:G | L239P | 1.000 |
| 9:108990772:C:T | G198E | 1.000 |
| 9:108990783:G:C | F194L | 1.000 |
| 9:108990783:G:T | F194L | 1.000 |
| 9:108990785:A:G | F194L | 1.000 |
| 9:108984347:C:A | K243N | 0.999 |
| 9:108984347:C:G | K243N | 0.999 |
| 9:108984355:C:G | A241P | 0.999 |
| 9:108984360:A:T | L239H | 0.999 |
| 9:108984363:A:G | L238P | 0.999 |
| 9:108984384:A:G | L231P | 0.999 |
| 9:108990732:T:A | R211S | 0.999 |
| 9:108990732:T:G | R211S | 0.999 |
| 9:108990772:C:A | G198V | 0.999 |
| 9:108990773:C:G | G198R | 0.999 |
| 9:108990773:C:T | G198R | 0.999 |
| 9:108990793:A:T | V191D | 0.999 |
| 9:108992672:T:A | D160V | 0.999 |
| 9:108992672:T:G | D160A | 0.999 |
| 9:108992684:A:C | L156W | 0.999 |
| 9:108992684:A:G | L156S | 0.999 |
| 9:108992708:A:G | L148P | 0.999 |
| 9:108992718:C:G | A145P | 0.999 |
| 9:108999070:C:G | A110P | 0.999 |
| 9:108999078:G:T | A107D | 0.999 |
| 9:108999079:C:G | A107P | 0.999 |
| 9:108999141:C:T | G86E | 0.999 |
| 9:108999142:C:G | G86R | 0.999 |
| 9:108999142:C:T | G86R | 0.999 |
| 9:108999152:A:C | F82L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000006986 (9:108985084 T>C), RS1000012990 (9:108975330 C>T), RS1000154177 (9:108946347 T>A), RS1000204190 (9:108944264 A>G), RS1000208301 (9:108985386 T>C), RS1000258177 (9:108946008 A>C,G,T), RS1000284551 (9:108991029 T>C), RS1000288916 (9:108989086 G>A), RS1000456073 (9:109009214 G>A,C), RS1000483964 (9:108957852 T>C), RS1000581879 (9:109008961 CA>C), RS1000590947 (9:108981782 G>A), RS1000639371 (9:108988747 C>G), RS1000698872 (9:108951451 T>C,G), RS1000702481 (9:108996394 G>A)
Disease associations
OMIM: gene MIM:604785 | 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
65 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | decreases reaction, increases expression, affects cotreatment, increases abundance, increases oxidation (+1 more) | 4 |
| Ozone | affects cotreatment, increases oxidation, increases abundance, decreases expression, decreases reaction (+1 more) | 4 |
| Cisplatin | affects cotreatment, decreases expression, increases expression, affects response to substance | 3 |
| Cyclosporine | increases expression | 3 |
| Particulate Matter | increases abundance, decreases expression | 3 |
| Coumestrol | affects reaction, affects cotreatment, increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases oxidation, increases abundance | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| kojic acid | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | increases expression, affects cotreatment | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| nickel sulfate | decreases expression | 1 |
| methacrylaldehyde | affects cotreatment, increases oxidation, increases abundance | 1 |
| tamibarotene | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| deguelin | increases expression | 1 |
| fenpyroximate | increases expression | 1 |
| ICG 001 | affects 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.