CNN2
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Summary
CNN2 (calponin 2, HGNC:2156) is a protein-coding gene on chromosome 19p13.3, encoding Calponin-2 (Q99439). Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction.
The protein encoded by this gene, which can bind actin, calmodulin, troponin C, and tropomyosin, may function in the structural organization of actin filaments. The encoded protein could play a role in smooth muscle contraction and cell adhesion. Several pseudogenes of this gene have been identified, and are present on chromosomes 1, 2, 3, 6, 9, 11, 13, 15, 16, 21 and 22. Alternative splicing results in multiple transcript variants encoding different isoforms.
Source: NCBI Gene 1265 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 67 total — 2 pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_004368
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2156 |
| Approved symbol | CNN2 |
| Name | calponin 2 |
| Location | 19p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000064666 |
| Ensembl biotype | protein_coding |
| OMIM | 602373 |
| Entrez | 1265 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 19 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay
ENST00000263097, ENST00000348419, ENST00000562015, ENST00000562075, ENST00000562958, ENST00000564572, ENST00000565096, ENST00000566695, ENST00000568865, ENST00000569352, ENST00000606983, ENST00000607102, ENST00000865315, ENST00000865316, ENST00000926772, ENST00000926773, ENST00000926774, ENST00000926775, ENST00000926776, ENST00000926777, ENST00000926778, ENST00000926779
RefSeq mRNA: 4 — MANE Select: NM_004368
NM_001303499, NM_001303501, NM_004368, NM_201277
CCDS: CCDS12053, CCDS12054, CCDS77204, CCDS77205
Canonical transcript exons
ENST00000263097 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003695062 | 1031071 | 1031192 |
| ENSE00003695886 | 1036416 | 1036562 |
| ENSE00003696727 | 1032559 | 1032696 |
| ENSE00003698662 | 1026608 | 1026724 |
| ENSE00003736499 | 1032392 | 1032458 |
| ENSE00003739803 | 1036130 | 1036246 |
| ENSE00003850190 | 1037625 | 1039065 |
Expression profiles
Bgee: expression breadth ubiquitous, 246 present calls, max score 98.61.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 188.3678 / max 1613.7939, expressed in 1819 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 172832 | 183.4851 | 1819 |
| 172837 | 3.4100 | 1146 |
| 208626 | 0.5740 | 367 |
| 172830 | 0.4114 | 246 |
| 172831 | 0.2706 | 128 |
| 172835 | 0.2168 | 61 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 98.61 | gold quality |
| stromal cell of endometrium | CL:0002255 | 98.43 | gold quality |
| right ovary | UBERON:0002118 | 98.27 | gold quality |
| right lung | UBERON:0002167 | 98.17 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 98.11 | gold quality |
| left ovary | UBERON:0002119 | 98.10 | gold quality |
| left uterine tube | UBERON:0001303 | 98.09 | gold quality |
| blood | UBERON:0000178 | 97.91 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 97.88 | gold quality |
| right coronary artery | UBERON:0001625 | 97.85 | gold quality |
| ascending aorta | UBERON:0001496 | 97.67 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.67 | gold quality |
| upper lobe of lung | UBERON:0008948 | 97.49 | gold quality |
| aorta | UBERON:0000947 | 97.32 | gold quality |
| gall bladder | UBERON:0002110 | 97.29 | gold quality |
| body of uterus | UBERON:0009853 | 97.22 | gold quality |
| popliteal artery | UBERON:0002250 | 97.18 | gold quality |
| tibial artery | UBERON:0007610 | 97.18 | gold quality |
| ectocervix | UBERON:0012249 | 97.06 | gold quality |
| spleen | UBERON:0002106 | 97.02 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.02 | gold quality |
| buccal mucosa cell | CL:0002336 | 97.01 | gold quality |
| left coronary artery | UBERON:0001626 | 96.92 | gold quality |
| esophagus mucosa | UBERON:0002469 | 96.81 | gold quality |
| mucosa of stomach | UBERON:0001199 | 96.76 | gold quality |
| lymph node | UBERON:0000029 | 96.75 | gold quality |
| minor salivary gland | UBERON:0001830 | 96.70 | gold quality |
| leukocyte | CL:0000738 | 96.69 | gold quality |
| monocyte | CL:0000576 | 96.67 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 96.64 | gold quality |
Single-cell (SCXA)
Detected in 7 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6819 | yes | 441.49 |
| E-HCAD-10 | yes | 61.81 |
| E-CURD-122 | yes | 16.15 |
| E-MTAB-7606 | no | 1099.59 |
| E-CURD-97 | no | 1016.32 |
| E-CURD-120 | no | 10.31 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTNNB1
miRNA regulators (miRDB)
46 targeting CNN2, 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-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4725-3P | 99.96 | 69.53 | 2520 |
| HSA-MIR-6780B-5P | 99.96 | 69.60 | 2562 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-23A-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23B-3P | 99.95 | 74.24 | 3163 |
| HSA-MIR-23C | 99.95 | 73.92 | 3192 |
| HSA-MIR-8082 | 99.95 | 67.27 | 1170 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-4271 | 99.88 | 68.32 | 2244 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-3150A-3P | 99.76 | 64.44 | 1640 |
| HSA-MIR-6763-5P | 99.76 | 64.68 | 1767 |
| HSA-MIR-3175 | 99.65 | 66.30 | 2031 |
| HSA-MIR-497-3P | 99.61 | 69.71 | 1990 |
| HSA-MIR-4649-3P | 99.56 | 66.90 | 1783 |
| HSA-MIR-6081 | 99.48 | 66.07 | 1446 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-133A-3P | 99.27 | 71.53 | 1270 |
| HSA-MIR-133B | 99.27 | 71.53 | 1270 |
| HSA-MIR-329-5P | 99.27 | 68.11 | 1597 |
| HSA-MIR-548AS-3P | 99.12 | 69.12 | 2294 |
| HSA-MIR-625-5P | 99.02 | 68.64 | 2031 |
| HSA-MIR-1228-3P | 99.00 | 66.53 | 857 |
| HSA-MIR-143-5P | 98.98 | 68.87 | 946 |
| HSA-MIR-3196 | 98.96 | 63.91 | 326 |
| HSA-MIR-331-3P | 98.76 | 64.91 | 793 |
Literature-anchored findings (GeneRIF, showing 7)
- h2-Calponin gene expression is further affected by the treatment of cells with Notch inhibitor and activator, suggesting an upstream signaling mechanism. (PMID:24285540)
- High Calponin-h2 serum levels are associated with breast cancer. (PMID:25099617)
- our results demonstrated that knockdown of endogenous CNN2 in AGS cells could significantly activate cell apoptosis pathway and therefore suppress cell growth in vitro. The deletion of CNN2 might be a potential therapeutic approach to inhibit aggressive growth of gastric cancer. (PMID:28714360)
- Study in human hepatocellular carcinoma cell line and xenograft mouse model shows that CNN2 plays an important role in tumor growth and metastasis, possibly through MEK1/2-ERK1/2 signaling pathway. (PMID:29333089)
- A rapid degradation of calponin 2 is required for cytokinesis. (PMID:34133238)
- Serum calponin 2 is a novel biomarker of tubal ectopic pregnancy. (PMID:34217487)
- Calponin 2 regulates ketogenesis to mitigate acute kidney injury. (PMID:37751293)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cnn2 | ENSDARG00000035858 |
| mus_musculus | Cnn2 | ENSMUSG00000004665 |
| rattus_norvegicus | Cnn2 | ENSRNOG00000043044 |
| drosophila_melanogaster | Mp20 | FBGN0002789 |
| drosophila_melanogaster | Chd64 | FBGN0035499 |
| caenorhabditis_elegans | cpn-1 | WBGENE00000777 |
| caenorhabditis_elegans | WBGENE00000778 | |
| caenorhabditis_elegans | cpn-3 | WBGENE00000779 |
| caenorhabditis_elegans | cpn-4 | WBGENE00000780 |
Paralogs (5): CNN3 (ENSG00000117519), CNN1 (ENSG00000130176), TAGLN3 (ENSG00000144834), TAGLN (ENSG00000149591), TAGLN2 (ENSG00000158710)
Protein
Protein identifiers
Calponin-2 — Q99439 (reviewed: Q99439)
Alternative names: Calponin H2, smooth muscle, Neutral calponin
All UniProt accessions (9): Q99439, A0A087WV51, A0A087X1X5, A0A087X271, B4DDF4, B4DUT8, H3BVI6, K7ES69, U3KPS3
UniProt curated annotations — full annotation on UniProt →
Function. Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction. It is capable of binding to actin, calmodulin and tropomyosin. The interaction of calponin with actin inhibits the actomyosin Mg-ATPase activity.
Tissue specificity. Heart and smooth muscle.
Similarity. Belongs to the calponin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q99439-1 | 1 | yes |
| Q99439-2 | 2 |
RefSeq proteins (4): NP_001290428, NP_001290430, NP_004359, NP_958434 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000557 | Calponin_repeat | Repeat |
| IPR001715 | CH_dom | Domain |
| IPR001997 | Calponin/LIMCH1 | Family |
| IPR003096 | SM22_calponin | Family |
| IPR036872 | CH_dom_sf | Homologous_superfamily |
| IPR050606 | Calponin-like | Family |
Pfam: PF00307, PF00402
UniProt features (25 total): helix 7, sequence conflict 5, modified residue 4, repeat 3, initiator methionine 1, chain 1, splice variant 1, domain 1, strand 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1WYN | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q99439-F1 | 68.62 | 0.18 |
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 (4): 138, 2, 8, 25
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-6798695 | Neutrophil degranulation |
| R-HSA-8950505 | Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation |
MSigDB gene sets: 268 (showing top):
HORIUCHI_WTAP_TARGETS_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, REACTOME_INNATE_IMMUNE_SYSTEM, WWTAAGGC_UNKNOWN, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, GOCC_SECRETORY_GRANULE, GOBP_CELLULAR_RESPONSE_TO_EXTERNAL_STIMULUS, LFA1_Q6, GOBP_NEGATIVE_REGULATION_OF_ENDOCYTOSIS, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_REGULATION_OF_VESICLE_MEDIATED_TRANSPORT, SRF_Q5_01, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION
GO Biological Process (15): phagocytosis (GO:0006909), cytoskeleton organization (GO:0007010), actin filament organization (GO:0007015), positive regulation of gene expression (GO:0010628), hemopoiesis (GO:0030097), actomyosin structure organization (GO:0031032), regulation of mononuclear cell proliferation (GO:0032944), regulation of actin filament-based process (GO:0032970), wound healing (GO:0042060), negative regulation of phagocytosis (GO:0050765), establishment of localization in cell (GO:0051649), cellular response to mechanical stimulus (GO:0071260), macrophage migration (GO:1905517), negative regulation of macrophage migration (GO:1905522), regulation of leukocyte proliferation (GO:0070663)
GO Molecular Function (5): actin binding (GO:0003779), calmodulin binding (GO:0005516), cadherin binding (GO:0045296), actin filament binding (GO:0051015), protein binding (GO:0005515)
GO Cellular Component (9): stress fiber (GO:0001725), extracellular region (GO:0005576), cytoskeleton (GO:0005856), cell-cell junction (GO:0005911), focal adhesion (GO:0005925), actin cytoskeleton (GO:0015629), membrane (GO:0016020), specific granule lumen (GO:0035580), tertiary granule lumen (GO:1904724)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Innate Immune System | 1 |
| Interleukin-12 signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| actin cytoskeleton organization | 2 |
| cellular anatomical structure | 2 |
| endocytosis | 1 |
| organelle organization | 1 |
| supramolecular fiber organization | 1 |
| gene expression | 1 |
| regulation of gene expression | 1 |
| positive regulation of macromolecule biosynthetic process | 1 |
| cell development | 1 |
| mononuclear cell proliferation | 1 |
| regulation of leukocyte proliferation | 1 |
| actin filament-based process | 1 |
| regulation of cellular process | 1 |
| response to wounding | 1 |
| tissue regeneration | 1 |
| phagocytosis | 1 |
| negative regulation of endocytosis | 1 |
| regulation of phagocytosis | 1 |
| establishment of localization | 1 |
| cellular localization | 1 |
| response to mechanical stimulus | 1 |
| cellular response to abiotic stimulus | 1 |
| cellular response to external stimulus | 1 |
| mononuclear cell migration | 1 |
| myeloid leukocyte migration | 1 |
| negative regulation of mononuclear cell migration | 1 |
| macrophage migration | 1 |
| regulation of macrophage migration | 1 |
| regulation of cell population proliferation | 1 |
| leukocyte proliferation | 1 |
| cytoskeletal protein binding | 1 |
| protein binding | 1 |
| cell adhesion molecule binding | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| binding | 1 |
| actomyosin | 1 |
| contractile actin filament bundle | 1 |
| intracellular membraneless organelle | 1 |
| anchoring junction | 1 |
Protein interactions and networks
STRING
3320 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CNN2 | VCL | P18206 | 662 |
| CNN2 | CALML4 | Q96GE6 | 647 |
| CNN2 | CALM1 | P02593 | 546 |
| CNN2 | CALML3 | P27482 | 541 |
| CNN2 | CALML5 | Q9NZT1 | 541 |
| CNN2 | CALML6 | Q8TD86 | 521 |
| CNN2 | MYH11 | P35749 | 480 |
| CNN2 | SRF | P11831 | 472 |
| CNN2 | CALD1 | Q05682 | 469 |
| CNN2 | FLNA | P21333 | 458 |
| CNN2 | MYOCD | Q8IZQ8 | 453 |
| CNN2 | SMTN | P53814 | 435 |
| CNN2 | VAV1 | P15498 | 429 |
| CNN2 | FLNC | Q14315 | 421 |
| CNN2 | TPM4 | P07226 | 400 |
IntAct
54 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| CDA | LIN7A | psi-mi:“MI:0914”(association) | 0.640 |
| CFTR | HAX1 | psi-mi:“MI:0914”(association) | 0.610 |
| NAGK | ZBTB43 | psi-mi:“MI:0914”(association) | 0.530 |
| CNN2 | ATE1 | psi-mi:“MI:0914”(association) | 0.530 |
| RAB4A | CHML | psi-mi:“MI:0914”(association) | 0.530 |
| HSPA2 | DNAJC13 | psi-mi:“MI:0914”(association) | 0.530 |
| AP3D1 | psi-mi:“MI:0914”(association) | 0.460 | |
| IPO5 | psi-mi:“MI:0914”(association) | 0.350 | |
| PGRMC1 | psi-mi:“MI:0914”(association) | 0.350 | |
| HIF1AN | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| EGLN3 | FAM168B | psi-mi:“MI:0914”(association) | 0.350 |
| PLEKHA7 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| ZDHHC5 | HACD3 | psi-mi:“MI:0914”(association) | 0.350 |
| ZDHHC5 | IGKV2D-24 | psi-mi:“MI:0914”(association) | 0.350 |
| PIK3C2A | psi-mi:“MI:0914”(association) | 0.350 | |
| AGPS | psi-mi:“MI:0914”(association) | 0.350 | |
| PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 | |
| ATG16L1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ST6GALNAC6 | A2ML1 | psi-mi:“MI:0914”(association) | 0.350 |
| MTSS2 | CHEK1 | psi-mi:“MI:0914”(association) | 0.350 |
| DDX28 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| DND1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| GAB2 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| HSPA8 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (103): CNN3 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), TRAPPC9 (Affinity Capture-MS), ALAD (Affinity Capture-MS), ALDH8A1 (Co-fractionation), MTAP (Co-fractionation), SF1 (Co-fractionation), CNN2 (Affinity Capture-MS), CNN2 (Proximity Label-MS), CNN3 (Affinity Capture-MS), CNN2 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), ALAD (Affinity Capture-MS), TRAPPC4 (Affinity Capture-MS)
ESM2 similar proteins: E2RU10, O14185, O88818, P19966, P26932, P31232, P34512, P37397, P37802, P37803, P37804, P37805, P48608, P51911, P91529, Q01995, Q02328, Q08091, Q08092, Q08093, Q08094, Q08290, Q08873, Q15417, Q2HJ38, Q32L92, Q3SYU6, Q3ZBY2, Q4R5J4, Q550R2, Q5E9F5, Q5R6R2, Q5RFN6, Q5XFX0, Q63598, Q7XJ60, Q7XVN7, Q7YRL2, Q8WTJ4, Q99439
Diamond homologs: B9EUM5, O14185, O14188, P14318, P19966, P26932, P31232, P37397, P37802, P37803, P37804, P37805, P46940, P51911, Q01995, Q08091, Q08092, Q08093, Q08094, Q08290, Q08873, Q12280, Q15052, Q15417, Q24799, Q2HJ38, Q32L92, Q3SYU6, Q3ZBY2, Q4R5J4, Q54TK8, Q55E26, Q55GV9, Q5AH02, Q5E9F5, Q5R6R2, Q5RFN6, Q5XFX0, Q5XXR3, Q5ZLR6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
67 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1696851 | NM_004368.4(CNN2):c.797G>A (p.Arg266Gln) | Pathogenic |
| 1696852 | NM_004368.4(CNN2):c.787G>A (p.Gly263Ser) | Pathogenic |
SpliceAI
1214 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:1026723:GG:G | donor_gain | 1.0000 |
| 19:1026724:GG:G | donor_gain | 1.0000 |
| 19:1026724:GGTG:G | donor_loss | 1.0000 |
| 19:1026725:G:GG | donor_gain | 1.0000 |
| 19:1026726:T:A | donor_loss | 1.0000 |
| 19:1031067:CCA:C | acceptor_loss | 1.0000 |
| 19:1031069:A:AC | acceptor_loss | 1.0000 |
| 19:1031069:A:AG | acceptor_gain | 1.0000 |
| 19:1031070:G:GT | acceptor_gain | 1.0000 |
| 19:1031070:GC:G | acceptor_gain | 1.0000 |
| 19:1031070:GCT:G | acceptor_gain | 1.0000 |
| 19:1031070:GCTC:G | acceptor_gain | 1.0000 |
| 19:1031070:GCTCC:G | acceptor_gain | 1.0000 |
| 19:1031188:TGCAC:T | donor_gain | 1.0000 |
| 19:1031189:GCAC:G | donor_gain | 1.0000 |
| 19:1031189:GCACG:G | donor_gain | 1.0000 |
| 19:1031190:CAC:C | donor_gain | 1.0000 |
| 19:1031190:CACGT:C | donor_loss | 1.0000 |
| 19:1031191:AC:A | donor_gain | 1.0000 |
| 19:1031191:ACGT:A | donor_loss | 1.0000 |
| 19:1031192:CGTG:C | donor_loss | 1.0000 |
| 19:1031193:G:GG | donor_gain | 1.0000 |
| 19:1031193:GTG:G | donor_loss | 1.0000 |
| 19:1032370:C:CA | acceptor_gain | 1.0000 |
| 19:1032376:A:AG | acceptor_gain | 1.0000 |
| 19:1032376:AT:A | acceptor_gain | 1.0000 |
| 19:1032376:ATGTT:A | acceptor_gain | 1.0000 |
| 19:1032377:T:G | acceptor_gain | 1.0000 |
| 19:1032377:T:TA | acceptor_gain | 1.0000 |
| 19:1032380:T:A | acceptor_gain | 1.0000 |
AlphaMissense
2040 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:1026699:G:A | G13E | 1.000 |
| 19:1031177:G:A | G57E | 1.000 |
| 19:1032450:T:A | W82R | 1.000 |
| 19:1032450:T:C | W82R | 1.000 |
| 19:1032452:G:C | W82C | 1.000 |
| 19:1032452:G:T | W82C | 1.000 |
| 19:1032638:T:C | L111P | 1.000 |
| 19:1036419:G:C | G171R | 1.000 |
| 19:1036442:G:C | Q178H | 1.000 |
| 19:1036442:G:T | Q178H | 1.000 |
| 19:1036462:G:A | G185D | 1.000 |
| 19:1036471:G:C | R188T | 1.000 |
| 19:1036471:G:T | R188M | 1.000 |
| 19:1036472:G:C | R188S | 1.000 |
| 19:1036472:G:T | R188S | 1.000 |
| 19:1036539:G:C | G211R | 1.000 |
| 19:1026698:G:A | G13R | 0.999 |
| 19:1026698:G:C | G13R | 0.999 |
| 19:1031108:T:A | L34H | 0.999 |
| 19:1031108:T:C | L34P | 0.999 |
| 19:1031116:T:A | W37R | 0.999 |
| 19:1031116:T:C | W37R | 0.999 |
| 19:1031168:T:C | L54P | 0.999 |
| 19:1031177:G:T | G57V | 0.999 |
| 19:1031186:T:C | L60S | 0.999 |
| 19:1032394:T:C | L63P | 0.999 |
| 19:1032451:G:C | W82S | 0.999 |
| 19:1032560:T:C | L85P | 0.999 |
| 19:1032569:T:C | L88P | 0.999 |
| 19:1032622:T:C | F106L | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000049566 (19:1028702 G>C,T), RS1000162724 (19:1028096 G>A), RS1000207698 (19:1037211 C>T), RS1000277113 (19:1035236 C>G,T), RS1000407997 (19:1039274 C>G,T), RS1000715141 (19:1038378 A>G), RS1000886683 (19:1039380 C>T), RS1001456279 (19:1027438 G>A), RS1001663681 (19:1028491 C>A,T), RS1001772661 (19:1035655 G>A,T), RS1001789756 (19:1026486 A>G), RS1001882641 (19:1031408 G>A), RS1002009702 (19:1028716 G>A), RS1002048994 (19:1032034 C>A), RS1002673768 (19:1038839 G>T)
Disease associations
OMIM: gene MIM:602373 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003219_41 | Advanced age-related macular degeneration | 3.000000e-08 |
| GCST004599_138 | Mean platelet volume | 1.000000e-11 |
| GCST004610_87 | White blood cell count | 3.000000e-10 |
| GCST004614_71 | Granulocyte count | 3.000000e-10 |
| GCST004617_129 | Eosinophil percentage of granulocytes | 5.000000e-09 |
| GCST004625_204 | Monocyte count | 3.000000e-11 |
| GCST90002381_560 | Eosinophil count | 2.000000e-09 |
| GCST90002382_495 | Eosinophil percentage of white cells | 1.000000e-24 |
| GCST90002388_521 | Lymphocyte count | 2.000000e-09 |
| GCST90002393_627 | Monocyte count | 8.000000e-28 |
| GCST90002395_295 | Mean platelet volume | 5.000000e-10 |
| GCST90002398_97 | Neutrophil count | 5.000000e-24 |
| GCST90002399_211 | Neutrophil percentage of white cells | 5.000000e-11 |
| GCST90002400_256 | Plateletcrit | 7.000000e-12 |
| GCST90002404_199 | Red cell distribution width | 5.000000e-22 |
| GCST90002407_171 | White blood cell count | 2.000000e-29 |
EFO canonical traits (11, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:1001492 | atrophic macular degeneration |
| EFO:0007987 | granulocyte count |
| EFO:0007996 | eosinophil percentage of granulocytes |
| EFO:0005091 | monocyte count |
| EFO:0004842 | eosinophil count |
| EFO:0007991 | eosinophil percentage of leukocytes |
| EFO:0004587 | lymphocyte count |
| EFO:0004833 | neutrophil count |
| EFO:0007990 | neutrophil percentage of leukocytes |
| EFO:0007985 | platelet crit |
| EFO:0009188 | Red cell distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL4295930 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
53 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, increases methylation, decreases expression | 3 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance, increases expression | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Rotenone | increases expression | 2 |
| Tretinoin | increases expression | 2 |
| 1-Methyl-4-phenylpyridinium | increases expression | 2 |
| Genistein | decreases expression, increases reaction | 2 |
| Particulate Matter | increases abundance, affects cotreatment, decreases expression | 2 |
| bisphenol F | increases expression | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| isobutyl alcohol | increases abundance, affects cotreatment, decreases expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| entinostat | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| nutlin 3 | affects cotreatment, increases secretion | 1 |
| abrine | decreases expression | 1 |
| eprenetapopt | affects expression, affects reaction | 1 |
| LDN 193189 | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
ChEMBL screening assays
9 unique, capped per target: 9 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL4118779 | Binding | Binding affinity to CNN2 in human NCI-H23 cells at 1 uM by mass spectrometry based pull down assay | Studies of TAK1-centered polypharmacology with novel covalent TAK1 inhibitors. — Bioorg Med Chem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): age-related macular degeneration, wet macular degeneration