CNN1
gene geneOn this page
Also known as SMCCSm-Calp
Summary
CNN1 (calponin 1, HGNC:2155) is a protein-coding gene on chromosome 19p13.2, encoding Calponin-1 (P51911). Thin filament-associated protein that is implicated in the regulation and modulation of smooth muscle contraction.
Predicted to enable actin filament binding activity. Involved in negative regulation of vascular associated smooth muscle cell proliferation. Located in cytoskeleton.
Source: NCBI Gene 1264 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 63 total
- MANE Select transcript:
NM_001299
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:2155 |
| Approved symbol | CNN1 |
| Name | calponin 1 |
| Location | 19p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | SMCC, Sm-Calp |
| Ensembl gene | ENSG00000130176 |
| Ensembl biotype | protein_coding |
| OMIM | 600806 |
| Entrez | 1264 |
Gene structure
Transcript identifiers
Ensembl transcripts: 16 — 15 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000252456, ENST00000535659, ENST00000585869, ENST00000586059, ENST00000586577, ENST00000587087, ENST00000588468, ENST00000588935, ENST00000592338, ENST00000592923, ENST00000873889, ENST00000873890, ENST00000873891, ENST00000873892, ENST00000873893, ENST00000962387
RefSeq mRNA: 3 — MANE Select: NM_001299
NM_001299, NM_001308341, NM_001308342
CCDS: CCDS12263, CCDS77238
Canonical transcript exons
ENST00000252456 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000679861 | 11549323 | 11549469 |
| ENSE00000679862 | 11547797 | 11547907 |
| ENSE00000679863 | 11546832 | 11546969 |
| ENSE00000679864 | 11546675 | 11546741 |
| ENSE00000864719 | 11549550 | 11550323 |
| ENSE00002789578 | 11538851 | 11538990 |
| ENSE00003590752 | 11541076 | 11541197 |
Expression profiles
Bgee: expression breadth ubiquitous, 229 present calls, max score 99.92.
FANTOM5 (CAGE): breadth broad, TPM avg 36.6013 / max 4973.7087, expressed in 902 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 173931 | 33.7707 | 858 |
| 208692 | 2.0930 | 498 |
| 173934 | 0.3176 | 123 |
| 173933 | 0.2195 | 115 |
| 173935 | 0.0955 | 46 |
| 173932 | 0.0759 | 26 |
| 173936 | 0.0291 | 14 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| saphenous vein | UBERON:0007318 | 99.92 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 99.82 | gold quality |
| popliteal artery | UBERON:0002250 | 99.81 | gold quality |
| tibial artery | UBERON:0007610 | 99.81 | gold quality |
| lower esophagus | UBERON:0013473 | 99.81 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 99.74 | gold quality |
| right coronary artery | UBERON:0001625 | 99.73 | gold quality |
| cauda epididymis | UBERON:0004360 | 99.73 | gold quality |
| body of uterus | UBERON:0009853 | 99.73 | gold quality |
| aorta | UBERON:0000947 | 99.72 | gold quality |
| seminal vesicle | UBERON:0000998 | 99.72 | gold quality |
| mucosa of stomach | UBERON:0001199 | 99.68 | gold quality |
| urethra | UBERON:0000057 | 99.67 | gold quality |
| myometrium | UBERON:0001296 | 99.67 | gold quality |
| left uterine tube | UBERON:0001303 | 99.66 | gold quality |
| ascending aorta | UBERON:0001496 | 99.61 | gold quality |
| thoracic aorta | UBERON:0001515 | 99.61 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 99.60 | gold quality |
| blood vessel layer | UBERON:0004797 | 99.59 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 99.52 | gold quality |
| left coronary artery | UBERON:0001626 | 99.51 | gold quality |
| vena cava | UBERON:0004087 | 99.51 | gold quality |
| coronary artery | UBERON:0001621 | 99.50 | gold quality |
| gall bladder | UBERON:0002110 | 99.21 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 99.00 | gold quality |
| endocervix | UBERON:0000458 | 98.87 | gold quality |
| adult organism | UBERON:0007023 | 98.82 | gold quality |
| fundus of stomach | UBERON:0001160 | 98.78 | gold quality |
| superficial temporal artery | UBERON:0001614 | 98.73 | gold quality |
| nipple | UBERON:0002030 | 98.70 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-10287 | yes | 2686.67 |
| E-MTAB-10885 | yes | 1579.59 |
| E-MTAB-8205 | yes | 136.97 |
| E-HCAD-1 | yes | 37.29 |
| E-MTAB-8410 | yes | 29.34 |
| E-HCAD-11 | yes | 11.42 |
| E-GEOD-124858 | no | 41.78 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): EGR2, HMGXB4, MYOCD, SRF, TCF21, TCF3
miRNA regulators (miRDB)
59 targeting CNN1, 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-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-218-5P | 99.93 | 72.22 | 2103 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-6751-5P | 99.56 | 64.99 | 1145 |
| HSA-MIR-199A-5P | 99.51 | 69.71 | 1107 |
| HSA-MIR-199B-5P | 99.51 | 69.74 | 1098 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
Literature-anchored findings (GeneRIF, showing 20)
- expression in tumor vessels is a new and useful means to predict prognosis of hepatocellular carcinoma after hepatic resection (PMID:11920541)
- results suggest that regulation of h1-calponin is involved in the regulation of differentiation of AR42J cells into insulin-producing cells (PMID:12606518)
- the calponin homology domain of Vav1 associates with calmodulin and is prerequisite to T cell antigen receptor-induced calcium release in Jurkat T lymphocytes (PMID:17550897)
- analysis of distinct sites of interaction that form the calponin: gelsolin complex and two calcium switches that control its activity (PMID:17556051)
- expression of vascular CNN1 in the peripheral region of colon cancer tissues was significantly reduced in association with tumor progression, lymphatic invasion, vascular invasion and recurrence. (PMID:17707120)
- Calponin and alpha-inhibin are the most useful positive markers for serous microcystic adenoma, and are negative in most entities in the differential diagnosis. (PMID:19391217)
- The point mutation S175T exhibited more resistance to actin rearrangement by cytochalasin D and PDBu than intact CNh1, suppressing cell motility induced by PDBu. (PMID:20530411)
- Inhibition of calponin-1 expression can inhibit uterine smooth muscle cell migration and cause the morphological change and rearrangement of F-actin without affecting its proliferation and apoptosis in vitro. (PMID:20584679)
- Calponin-1 expression in the uterine smooth muscle tissue of the body and the lower uterine segment of smooth muscle tissues was significantly different. (PMID:21051832)
- D2-40 immunohistochemistry reliably identifies the myoepithelial cells of breast in a variety of lesions in a pattern similar to that of calponin and p63. (PMID:21326813)
- A single intronic CArG element is necessary but insufficient for proper CNN1 expression in vivo. CNN1 overexpression antagonizes arterial injury-induced neointimal formation. (PMID:21817093)
- Expression of transforming growth factor-beta (4.3 +/- 1.4 vs 2.6 +/- 2.3, p = 0.01) and calponin (3.7 +/- 0.7 vs 0.6 +/- 1.1, p = 0.05) was lower from infants with vs without a PDA. (PMID:23731614)
- CNN1 immunohistochemical staining allows ready recognition of intracytoplasmic inclusions, aiding diagnosis of infantile digital fibromatosis. (PMID:24117680)
- Calponin knockdown inhibits autophosphorylation. (PMID:24350264)
- epsilonPKC/ERK/mTOR pathway activation induced by the rescued expression of CNN1 contributed to the improvement of cardiac dysfunction and pathological changes observed in transgenic mice. (PMID:24631115)
- Loss of myoepithelial calponin was specifically associated with gain of the basal marker p63 in adjacent tumor cells. (PMID:26343330)
- Loss of CNN1 expression is associated with Ovarian Cancer. (PMID:26504022)
- Studied maternal serum calponin 1 levels in the prediction of delivery within 7 days among pregnancies complicated with threatened preterm labor. Of 73 women included in the study, found the maternal serum calponin 1 level was significantly high in women who delivered within 7 days vs. those who delivered after 7 days. (PMID:28068849)
- Calponin and MUC6 complement inhibin as diagnostic immunomarkers of serous cystadenoma in endoscopic ultrasound-guided aspiration/biopsy specimens. (PMID:33657658)
- Long non-coding RNA MEG3 acts as a suppressor in breast cancer by regulating miR-330/CNN1. (PMID:38240701)
Cross-species orthologs
10 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | cnn1a | ENSDARG00000017193 |
| danio_rerio | cnn1b | ENSDARG00000102398 |
| mus_musculus | Cnn1 | ENSMUSG00000001349 |
| rattus_norvegicus | Cnn1 | ENSRNOG00000027736 |
| 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): CNN2 (ENSG00000064666), CNN3 (ENSG00000117519), TAGLN3 (ENSG00000144834), TAGLN (ENSG00000149591), TAGLN2 (ENSG00000158710)
Protein
Protein identifiers
Calponin-1 — P51911 (reviewed: P51911)
Alternative names: Basic calponin, Calponin H1, smooth muscle
All UniProt accessions (9): P51911, B7Z7E1, K7ENC5, K7EQ72, K7ER02, K7ERK4, K7ERM8, K7ESJ2, V9HWA5
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.
Subunit / interactions. Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1.
Tissue specificity. Smooth muscle, and tissues containing significant amounts of smooth muscle.
Similarity. Belongs to the calponin family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P51911-1 | 1 | yes |
| P51911-2 | 2 |
RefSeq proteins (3): NP_001290, NP_001295270, NP_001295271 (=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 (23 total): helix 7, modified residue 5, sequence conflict 4, repeat 3, chain 1, domain 1, splice variant 1, strand 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1WYP | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P51911-F1 | 72.06 | 0.33 |
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 (5): 170, 175, 180, 184, 259
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9927432 | Developmental Lineage of Mammary Gland Myoepithelial Cells |
MSigDB gene sets: 188 (showing top):
WALLACE_PROSTATE_CANCER_RACE_UP, WWTAAGGC_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GOBP_REGULATION_OF_SMOOTH_MUSCLE_CONTRACTION, MCBRYAN_PUBERTAL_TGFB1_TARGETS_UP, MCBRYAN_TERMINAL_END_BUD_UP, KYNG_DNA_DAMAGE_DN, TGACCTY_ERR1_Q2, TOMLINS_PROSTATE_CANCER_DN, GOBP_MUSCLE_CELL_PROLIFERATION, LA_MEN1_TARGETS, SRF_Q5_01, CHEN_LVAD_SUPPORT_OF_FAILING_HEART_UP
GO Biological Process (4): regulation of smooth muscle contraction (GO:0006940), actin filament organization (GO:0007015), actomyosin structure organization (GO:0031032), negative regulation of vascular associated smooth muscle cell proliferation (GO:1904706)
GO Molecular Function (4): calmodulin binding (GO:0005516), actin filament binding (GO:0051015), actin binding (GO:0003779), protein binding (GO:0005515)
GO Cellular Component (3): cytoskeleton (GO:0005856), focal adhesion (GO:0005925), actin cytoskeleton (GO:0015629)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Developmental Lineages of the Mammary Gland | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| actin cytoskeleton organization | 2 |
| regulation of muscle contraction | 1 |
| smooth muscle contraction | 1 |
| supramolecular fiber organization | 1 |
| negative regulation of smooth muscle cell proliferation | 1 |
| regulation of vascular associated smooth muscle cell proliferation | 1 |
| vascular associated smooth muscle cell proliferation | 1 |
| protein binding | 1 |
| actin binding | 1 |
| protein-containing complex binding | 1 |
| cytoskeletal protein binding | 1 |
| binding | 1 |
| intracellular membraneless organelle | 1 |
| cell-substrate junction | 1 |
| cytoskeleton | 1 |
Protein interactions and networks
STRING
3542 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CNN1 | CALM1 | P02593 | 942 |
| CNN1 | CALML3 | P27482 | 941 |
| CNN1 | CALML5 | Q9NZT1 | 941 |
| CNN1 | CALML6 | Q8TD86 | 936 |
| CNN1 | CALML4 | Q96GE6 | 935 |
| CNN1 | MYH11 | P35749 | 860 |
| CNN1 | ACTA2 | P03996 | 842 |
| CNN1 | CALD1 | Q05682 | 826 |
| CNN1 | MYOCD | Q8IZQ8 | 794 |
| CNN1 | SPEF1 | Q9Y4P9 | 764 |
| CNN1 | SMTN | P53814 | 759 |
| CNN1 | NAV3 | Q8IVL0 | 698 |
| CNN1 | NAV2 | Q8IVL1 | 692 |
| CNN1 | SRF | P11831 | 675 |
| CNN1 | RGCC | Q9H4X1 | 656 |
IntAct
32 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CIAPIN1 | GLRX3 | psi-mi:“MI:0914”(association) | 0.960 |
| MYEOV | CNN1 | psi-mi:“MI:0914”(association) | 0.560 |
| MYEOV | CNN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLRG1 | CNN1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| CNN1 | TFPT | psi-mi:“MI:0915”(physical association) | 0.490 |
| CNN1 | CCHCR1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| CNN1 | COG6 | psi-mi:“MI:0915”(physical association) | 0.490 |
| CNN1 | SYCE1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| CNN1 | NCAPD2 | psi-mi:“MI:0915”(physical association) | 0.490 |
| CNN1 | PLRG1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| RNF150 | CNN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| DOK6 | CNN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SSUH2 | CNN1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CNN1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| CNN1 | MYBPC3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TK | AP3B1 | psi-mi:“MI:0914”(association) | 0.350 |
| BVLF1 | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR2 | psi-mi:“MI:0914”(association) | 0.350 | |
| FAM3D | CNN1 | psi-mi:“MI:0914”(association) | 0.350 |
| AK4 | CNN1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (36): MTHFD1 (Co-fractionation), MTHFD1L (Co-fractionation), CNN1 (Affinity Capture-MS), CNN1 (Affinity Capture-MS), TFPT (Two-hybrid), SYCE1 (Two-hybrid), CCHCR1 (Two-hybrid), COG6 (Two-hybrid), CNN1 (Two-hybrid), NCAPD2 (Two-hybrid), TPM1 (Reconstituted Complex), ACTA1 (Reconstituted Complex), CALM1 (Reconstituted Complex), MYO1A (Reconstituted Complex), CNN1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0G2UGT2, A0A0P0E482, A0A2Z6UD27, A0A646QV53, A7EWX9, A7XUK7, B3EWR1, B8WI85, C0HK25, C0HL90, H2FH31, O18423, O18424, O61064, O74703, O77009, P08696, P09334, P09335, P09336, P09338, P19616, P26932, P40483, P49714, P51911, P55296, P80708, P84331, Q00801, Q00802, Q05097, Q08091, Q08092, Q08290, Q15417, Q27084, Q2HJ38, Q32L92, Q3LX99
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
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| SRF | “up-regulates quantity by expression” | CNN1 | “transcriptional regulation” |
| FYN | “down-regulates activity” | CNN1 | phosphorylation |
Disease & clinical
Clinical variants and AI predictions
ClinVar
63 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 54 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
962 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:11541068:C:A | acceptor_gain | 1.0000 |
| 19:11541074:A:AG | acceptor_gain | 1.0000 |
| 19:11541074:AGCT:A | acceptor_gain | 1.0000 |
| 19:11541075:G:GA | acceptor_gain | 1.0000 |
| 19:11541075:GC:G | acceptor_gain | 1.0000 |
| 19:11541075:GCT:G | acceptor_gain | 1.0000 |
| 19:11541075:GCTG:G | acceptor_gain | 1.0000 |
| 19:11541194:GCGA:G | donor_gain | 1.0000 |
| 19:11541196:GA:G | donor_gain | 1.0000 |
| 19:11541198:G:GG | donor_gain | 1.0000 |
| 19:11546739:CAGGT:C | donor_loss | 1.0000 |
| 19:11546740:AGGTG:A | donor_loss | 1.0000 |
| 19:11546742:G:A | donor_loss | 1.0000 |
| 19:11546743:T:G | donor_loss | 1.0000 |
| 19:11546827:TCTAG:T | acceptor_loss | 1.0000 |
| 19:11546828:CTAGC:C | acceptor_loss | 1.0000 |
| 19:11546829:TA:T | acceptor_loss | 1.0000 |
| 19:11546830:A:AG | acceptor_gain | 1.0000 |
| 19:11546830:AGCT:A | acceptor_gain | 1.0000 |
| 19:11546830:AGCTG:A | acceptor_gain | 1.0000 |
| 19:11546831:G:GT | acceptor_gain | 1.0000 |
| 19:11546831:GC:G | acceptor_gain | 1.0000 |
| 19:11546831:GCT:G | acceptor_gain | 1.0000 |
| 19:11546831:GCTG:G | acceptor_gain | 1.0000 |
| 19:11546831:GCTGG:G | acceptor_gain | 1.0000 |
| 19:11546965:GCATG:G | donor_gain | 1.0000 |
| 19:11547795:A:AG | acceptor_gain | 1.0000 |
| 19:11547796:G:GT | acceptor_gain | 1.0000 |
| 19:11547871:G:T | donor_gain | 1.0000 |
| 19:11547875:C:G | donor_gain | 1.0000 |
AlphaMissense
1967 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:11549326:G:C | G169R | 1.000 |
| 19:11549369:G:A | G183D | 1.000 |
| 19:11549377:C:A | R186S | 1.000 |
| 19:11538965:G:A | G13E | 0.999 |
| 19:11541113:T:C | L34P | 0.999 |
| 19:11541182:G:A | G57D | 0.999 |
| 19:11541182:G:T | G57V | 0.999 |
| 19:11546733:T:A | W82R | 0.999 |
| 19:11546733:T:C | W82R | 0.999 |
| 19:11546735:G:C | W82C | 0.999 |
| 19:11546735:G:T | W82C | 0.999 |
| 19:11546833:T:C | L85P | 0.999 |
| 19:11546911:T:A | L111Q | 0.999 |
| 19:11546911:T:C | L111P | 0.999 |
| 19:11549327:G:A | G169D | 0.999 |
| 19:11549349:G:C | Q176H | 0.999 |
| 19:11549349:G:T | Q176H | 0.999 |
| 19:11549368:G:C | G183R | 0.999 |
| 19:11549442:G:C | Q207H | 0.999 |
| 19:11549442:G:T | Q207H | 0.999 |
| 19:11549446:G:C | G209R | 0.999 |
| 19:11549447:G:A | G209D | 0.999 |
| 19:11549569:G:A | G223E | 0.999 |
| 19:11549686:G:A | G262E | 0.999 |
| 19:11549694:C:A | R265S | 0.999 |
| 19:11541121:T:A | W37R | 0.998 |
| 19:11541121:T:C | W37R | 0.998 |
| 19:11541173:T:C | L54P | 0.998 |
| 19:11541181:G:C | G57R | 0.998 |
| 19:11546895:T:C | F106L | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000149822 (19:11538234 G>C), RS1000222449 (19:11545972 A>G,T), RS1000334866 (19:11548498 C>T), RS1000417104 (19:11538454 G>T), RS1000422435 (19:11546320 G>A,C), RS1000561823 (19:11544535 A>G), RS1000742494 (19:11538868 C>A,G,T), RS1000760828 (19:11544668 T>C,G), RS1001065808 (19:11547342 A>G), RS1001116147 (19:11548142 C>T), RS1001253894 (19:11547898 T>C), RS1001427621 (19:11547604 T>C), RS1001461369 (19:11550765 C>T), RS1001634838 (19:11547257 C>T), RS1001746078 (19:11543131 C>T)
Disease associations
OMIM: gene MIM:600806 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003563_11 | Presence of antiphospholipid antibodies | 3.000000e-06 |
| GCST003563_12 | Presence of antiphospholipid antibodies | 4.000000e-06 |
| GCST003563_6 | Presence of antiphospholipid antibodies | 5.000000e-08 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
79 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, increases expression | 3 |
| Benzo(a)pyrene | increases methylation, affects methylation, increases expression | 2 |
| Cadmium | increases expression, decreases expression, increases abundance | 2 |
| Doxorubicin | affects expression, increases expression | 2 |
| Silicon Dioxide | affects expression, increases expression | 2 |
| Valproic Acid | affects expression, increases methylation | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Cadmium Chloride | decreases expression, increases abundance | 2 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| trichostatin A | affects expression | 1 |
| trimellitic anhydride | decreases expression | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| butyraldehyde | increases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| nickel sulfate | decreases expression | 1 |
| triadimefon | decreases expression | 1 |
| pentanal | increases expression | 1 |
| brequinar | decreases expression | 1 |
| bisindolylmaleimide I | decreases expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| SB 203580 | decreases reaction, increases expression | 1 |
| entinostat | increases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| Roflumilast | increases expression, decreases reaction | 1 |
| 2-(1-(3-dimethylaminopropyl)-5-methoxyindol-3-yl)-3-(1H-indol-3-yl)maleimide | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1NP | Abcam HeLa CNN1 KO | Cancer cell line | Female |
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.