SCML2
gene geneOn this page
Summary
SCML2 (Scm polycomb group protein like 2, HGNC:10581) is a protein-coding gene on chromosome Xp22.13, encoding Sex comb on midleg-like protein 2 (Q9UQR0). Putative Polycomb group (PcG) protein.
This gene encodes a member of the Polycomb group proteins. These proteins form the Polycomb repressive complexes which are involved in transcriptional repression. The encoded protein binds histone peptides that are monomethylated at lysine residues and may be involved in regulating homeotic gene expression during development.
Source: NCBI Gene 10389 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 180 total — 1 likely-pathogenic
- MANE Select transcript:
NM_006089
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10581 |
| Approved symbol | SCML2 |
| Name | Scm polycomb group protein like 2 |
| Location | Xp22.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000102098 |
| Ensembl biotype | protein_coding |
| OMIM | 300208 |
| Entrez | 10389 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000251900, ENST00000398048, ENST00000420857, ENST00000491988, ENST00000665583, ENST00000926833, ENST00000926834, ENST00000926835
RefSeq mRNA: 1 — MANE Select: NM_006089
NM_006089
CCDS: CCDS14185
Canonical transcript exons
ENST00000251900 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000666137 | 18242439 | 18242590 |
| ENSE00001341544 | 18354592 | 18354688 |
| ENSE00001632032 | 18246577 | 18246828 |
| ENSE00001692459 | 18260171 | 18260291 |
| ENSE00001720943 | 18256848 | 18257030 |
| ENSE00001722015 | 18324907 | 18324977 |
| ENSE00001740872 | 18330587 | 18330655 |
| ENSE00001761590 | 18323859 | 18324093 |
| ENSE00001776891 | 18247769 | 18247882 |
| ENSE00001780951 | 18304972 | 18305215 |
| ENSE00001801055 | 18258044 | 18258247 |
| ENSE00001802908 | 18320332 | 18320420 |
| ENSE00002285630 | 18334050 | 18334095 |
| ENSE00003545477 | 18239313 | 18241379 |
| ENSE00003664153 | 18265585 | 18265802 |
Expression profiles
Bgee: expression breadth ubiquitous, 228 present calls, max score 96.57.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.9471 / max 165.9154, expressed in 1093 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 198589 | 4.9471 | 1093 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| olfactory bulb | UBERON:0002264 | 96.57 | silver quality |
| diaphragm | UBERON:0001103 | 93.79 | silver quality |
| type B pancreatic cell | CL:0000169 | 93.77 | silver quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.43 | gold quality |
| parotid gland | UBERON:0001831 | 88.65 | gold quality |
| pancreatic ductal cell | CL:0002079 | 88.25 | silver quality |
| biceps brachii | UBERON:0001507 | 88.10 | silver quality |
| oocyte | CL:0000023 | 88.06 | gold quality |
| adrenal tissue | UBERON:0018303 | 87.29 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 87.24 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.18 | gold quality |
| heart right ventricle | UBERON:0002080 | 85.90 | silver quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 85.84 | silver quality |
| upper leg skin | UBERON:0004262 | 85.70 | gold quality |
| tibialis anterior | UBERON:0001385 | 85.44 | silver quality |
| male germ cell | CL:0000015 | 85.14 | silver quality |
| middle temporal gyrus | UBERON:0002771 | 84.84 | silver quality |
| nephron tubule | UBERON:0001231 | 84.69 | silver quality |
| endothelial cell | CL:0000115 | 84.58 | silver quality |
| adult organism | UBERON:0007023 | 84.01 | gold quality |
| sperm | CL:0000019 | 83.85 | silver quality |
| tendon of biceps brachii | UBERON:0008188 | 83.73 | silver quality |
| seminal vesicle | UBERON:0000998 | 83.63 | silver quality |
| esophagus squamous epithelium | UBERON:0006920 | 83.62 | silver quality |
| jejunal mucosa | UBERON:0000399 | 83.45 | silver quality |
| epithelium of esophagus | UBERON:0001976 | 83.19 | silver quality |
| secondary oocyte | CL:0000655 | 83.00 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 82.92 | silver quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 82.83 | silver quality |
| colonic mucosa | UBERON:0000317 | 82.82 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 5.25 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
161 targeting SCML2, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-34A-5P | 99.99 | 71.21 | 1784 |
| HSA-MIR-449A | 99.99 | 71.05 | 1776 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-485-3P | 99.98 | 70.68 | 1585 |
| HSA-MIR-539-3P | 99.98 | 70.74 | 1616 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-34C-5P | 99.97 | 70.45 | 1577 |
| HSA-MIR-449B-5P | 99.97 | 70.26 | 1580 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
Literature-anchored findings (GeneRIF, showing 6)
- 1.78-A crystal structure of the two MBT repeats of SCML2 show significant structural similarities to the Tudor, PWWP, and chromo domains, suggesting probable evolutionary relationships and functional similarities between the MBT repeats and these domains. (PMID:12952983)
- The malignant brain tumor repeats of SCML2 preferentially bind histone peptides monomethylated at lysine residues. The crystal structure of the complex reveals that the modified amino acid binds to an aromatic rich pocket. (PMID:18706910)
- Because PRC1 complexes localize to the promoters of a specific subset of developmental genes in vivo, the SLED domain of Scml2 may provide an important link connecting the PRC1 complexes to their target genes. (PMID:24727478)
- SCML2A, an SCML2 isoform tightly associated to chromatin, contributes to PRC1 localization and also directly enforces repression of certain Polycomb target genes. (PMID:24986859)
- SCML2 directly interacts with USP7 and drives its localization. SCML2 connects USP7 to PRC1.4, allowing for the stabilization of BMI1, and USP7 is found on SCML2 and BMI1 target genes. (PMID:25605328)
- Sex Comb on Midleg Like-2 Accelerates Hepatocellular Carcinoma Cell Proliferation and Metastasis by Activating Wnt/beta-Catenin/EMT Signaling. (PMID:34816637)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | scml2 | ENSDARG00000012949 |
| mus_musculus | Scml2 | ENSMUSG00000000037 |
| rattus_norvegicus | Scml2 | ENSRNOG00000003726 |
| drosophila_melanogaster | l(3)mbt | FBGN0002441 |
| drosophila_melanogaster | Sfmbt | FBGN0032475 |
| caenorhabditis_elegans | lin-61 | WBGENE00003041 |
| caenorhabditis_elegans | mbtr-1 | WBGENE00021661 |
Paralogs (18): SCMH1 (ENSG00000010803), MBTD1 (ENSG00000011258), SCML1 (ENSG00000047634), L3MBTL2 (ENSG00000100395), PHC1 (ENSG00000111752), THAP10 (ENSG00000129028), PHC2 (ENSG00000134686), SAMD1 (ENSG00000141858), SCML4 (ENSG00000146285), L3MBTL4 (ENSG00000154655), SFMBT1 (ENSG00000163935), PHC3 (ENSG00000173889), L3MBTL1 (ENSG00000185513), SAMD7 (ENSG00000187033), SAMD11 (ENSG00000187634), SFMBT2 (ENSG00000198879), L3MBTL3 (ENSG00000198945), SAMD13 (ENSG00000203943)
Protein
Protein identifiers
Sex comb on midleg-like protein 2 — Q9UQR0 (reviewed: Q9UQR0)
All UniProt accessions (3): Q9UQR0, B4DRC2, H0Y6S1
UniProt curated annotations — full annotation on UniProt →
Function. Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development.
Subcellular location. Nucleus.
Tissue specificity. Highly expressed in placenta, thymus and testis. Detected at lower levels in brain, liver, skeletal muscle, pancreas and ovary.
Similarity. Belongs to the SCM family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UQR0-1 | 1 | yes |
| Q9UQR0-2 | 2 |
RefSeq proteins (1): NP_006080* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001660 | SAM | Domain |
| IPR004092 | Mbt | Domain |
| IPR013761 | SAM/pointed_sf | Homologous_superfamily |
| IPR021987 | SLED | Domain |
| IPR033763 | SCML2_RBR | Domain |
| IPR038348 | SLED_sf | Homologous_superfamily |
| IPR047531 | SAM_Scm-like | Domain |
| IPR050548 | PcG_chromatin_remod_factors | Family |
Pfam: PF00536, PF02820, PF12140, PF17208
UniProt features (60 total): strand 16, modified residue 14, helix 12, compositionally biased region 5, cross-link 4, region of interest 4, repeat 2, chain 1, domain 1, splice variant 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2BIV | X-RAY DIFFRACTION | 1.7 |
| 1OI1 | X-RAY DIFFRACTION | 1.78 |
| 2VYT | X-RAY DIFFRACTION | 1.9 |
| 4EDU | X-RAY DIFFRACTION | 2.58 |
| 2MEM | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UQR0-F1 | 69.43 | 0.44 |
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 (18): 256, 261, 267, 299, 300, 305, 499, 503, 511, 522, 570, 583, 590, 594, 518, 536, 599, 605
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 145 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, CMYB_01, CTATGCA_MIR153, DODD_NASOPHARYNGEAL_CARCINOMA_UP, DANG_BOUND_BY_MYC, AP2GAMMA_01, MODULE_204, GOMF_CHROMATIN_BINDING, GOCC_PCG_PROTEIN_COMPLEX, CTGAGCC_MIR24, BENPORATH_MYC_MAX_TARGETS, GOMF_HISTONE_BINDING, GCACTTT_MIR175P_MIR20A_MIR106A_MIR106B_MIR20B_MIR519D, ATAAGCT_MIR21, MIKKELSEN_ES_ICP_WITH_H3K4ME3
GO Biological Process (3): anatomical structure morphogenesis (GO:0009653), negative regulation of DNA-templated transcription (GO:0045892), regulation of DNA-templated transcription (GO:0006355)
GO Molecular Function (3): chromatin binding (GO:0003682), histone binding (GO:0042393), protein binding (GO:0005515)
GO Cellular Component (2): nucleus (GO:0005634), PcG protein complex (GO:0031519)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 2 |
| binding | 2 |
| developmental process | 1 |
| anatomical structure development | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| protein binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
995 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SCML2 | PPEF1 | O14829 | 845 |
| SCML2 | MRPL3 | P09001 | 769 |
| SCML2 | BMI1 | P35226 | 765 |
| SCML2 | R4GMX3 | R4GMX3 | 765 |
| SCML2 | PRTN3 | P15637 | 743 |
| SCML2 | CBX4 | O00257 | 740 |
| SCML2 | ARSF | P54793 | 719 |
| SCML2 | PCGF2 | P35227 | 689 |
| SCML2 | CDKL5 | O76039 | 679 |
| SCML2 | PCGF1 | Q9BSM1 | 651 |
| SCML2 | RING1 | Q06587 | 640 |
| SCML2 | HORMAD2 | Q8N7B1 | 627 |
| SCML2 | HORMAD1 | Q86X24 | 616 |
| SCML2 | PCGF6 | Q9BYE7 | 604 |
| SCML2 | RYBP | Q8N488 | 597 |
IntAct
57 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDK2 | CDKN1A | psi-mi:“MI:0914”(association) | 0.980 |
| CCNE2 | CDK2 | psi-mi:“MI:0915”(physical association) | 0.940 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| USP7 | BCOR | psi-mi:“MI:0914”(association) | 0.660 |
| NCK2 | SCML2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LNX1 | SCML2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAB39L | SCML2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SFMBT2 | SCML2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SRGAP2B | SCML2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RNF4 | SCML2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| USP7 | MCM4 | psi-mi:“MI:0914”(association) | 0.530 |
| POTEB3 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| CBX6 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| SCML2 | CDK2 | psi-mi:“MI:0915”(physical association) | 0.500 |
| AURKA | CCNB2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CCNB2 | CCNE2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RNF2 | AKIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| CBX8 | CMSS1 | psi-mi:“MI:0914”(association) | 0.350 |
| Cbx7 | E2F6 | psi-mi:“MI:0914”(association) | 0.350 |
| USP7 | STIL | psi-mi:“MI:0914”(association) | 0.350 |
| Ring1 | CENPX | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| USP7 | psi-mi:“MI:0914”(association) | 0.350 | |
| SCMH1 | CBX4 | psi-mi:“MI:0914”(association) | 0.350 |
| SCML2 | CSTA | psi-mi:“MI:0914”(association) | 0.350 |
| H2BC21 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| POTEB3 | POTEB | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (104): SCML2 (Affinity Capture-MS), BAG1 (Co-fractionation), USP7 (Affinity Capture-Western), SCML2 (Affinity Capture-Western), SCML2 (Reconstituted Complex), USP7 (Reconstituted Complex), SCML2 (Affinity Capture-Western), SCML2 (Affinity Capture-Western), SCML2 (Affinity Capture-MS), SCML2 (Affinity Capture-MS), SCML2 (Affinity Capture-MS), SCML2 (Affinity Capture-MS), SCML2 (Affinity Capture-MS), SCML2 (Affinity Capture-MS), SCML2 (Affinity Capture-MS)
ESM2 similar proteins: A8MYV0, D3Z8X7, D3ZR10, D3ZUI5, F8VPQ2, M0R2J8, O35867, O54916, O75128, O94988, O95810, Q08D35, Q13625, Q149C2, Q3U1C4, Q3UH68, Q3UHI4, Q3UMF0, Q53SF7, Q5DU00, Q5JSH3, Q5JV73, Q5NBX1, Q5R9S0, Q5XIN3, Q63679, Q6AY22, Q6IRU7, Q6NVE8, Q6P1H6, Q6PGZ3, Q6PL24, Q7TP65, Q7TQ95, Q80U16, Q8BGI4, Q8CG79, Q8HYW0, Q8TDR0, Q92833
Diamond homologs: A2A5N8, B1B1A0, D3YUG0, D3YXK1, D3ZWK4, E1C2V1, O02274, O60284, O95251, P39769, P59178, P70047, P70475, P78364, P97500, Q01538, Q05BQ5, Q1JQD9, Q1RNF8, Q29L50, Q32N90, Q3MIF2, Q4V7W5, Q5DTW2, Q5R737, Q5SVQ0, Q5VUG0, Q5VXD3, Q64028, Q6DIN3, Q6P5G3, Q6SPE9, Q6SPF0, Q7Z3H4, Q80TY4, Q810T5, Q8BLB7, Q8C8Y5, Q8CFC2, Q8CHP6
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 58 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 |
|---|---|---|---|
| RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known | 5 | 41.7× | 2e-05 |
| Regulation of PTEN gene transcription | 6 | 29.7× | 2e-05 |
| Cellular Senescence | 6 | 22.9× | 2e-05 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 5 | 20.3× | 2e-04 |
| Intracellular signaling by second messengers | 6 | 15.2× | 1e-04 |
| Oxidative Stress Induced Senescence | 6 | 15.1× | 1e-04 |
| PIP3 activates AKT signaling | 7 | 13.0× | 6e-05 |
| Cell Cycle Checkpoints | 5 | 12.3× | 7e-04 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| G1/S transition of mitotic cell cycle | 5 | 21.3× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
180 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 39 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 564795 | GRCh37/hg19 Xp22.13(chrX:18275593-18653790)x1 | Likely pathogenic |
SpliceAI
3406 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:18241376:TTTC:T | acceptor_gain | 1.0000 |
| X:18241379:CCTA:C | acceptor_loss | 1.0000 |
| X:18241381:T:A | acceptor_loss | 1.0000 |
| X:18242437:A:AC | donor_gain | 1.0000 |
| X:18242438:C:CC | donor_gain | 1.0000 |
| X:18246743:T:TA | donor_gain | 1.0000 |
| X:18247880:TTG:T | acceptor_gain | 1.0000 |
| X:18247881:TG:T | acceptor_gain | 1.0000 |
| X:18247883:C:CC | acceptor_gain | 1.0000 |
| X:18247890:C:CT | acceptor_gain | 1.0000 |
| X:18247891:A:T | acceptor_gain | 1.0000 |
| X:18256842:TCTCA:T | donor_loss | 1.0000 |
| X:18256843:CTCA:C | donor_loss | 1.0000 |
| X:18256845:CA:C | donor_loss | 1.0000 |
| X:18256846:A:AT | donor_loss | 1.0000 |
| X:18256847:C:T | donor_loss | 1.0000 |
| X:18256847:CCTGA:C | donor_gain | 1.0000 |
| X:18257026:GGAGG:G | acceptor_gain | 1.0000 |
| X:18257027:GAGG:G | acceptor_gain | 1.0000 |
| X:18257028:AGG:A | acceptor_gain | 1.0000 |
| X:18257029:GG:G | acceptor_gain | 1.0000 |
| X:18257029:GGCTA:G | acceptor_loss | 1.0000 |
| X:18257030:GC:G | acceptor_loss | 1.0000 |
| X:18257031:C:CA | acceptor_loss | 1.0000 |
| X:18257031:C:CC | acceptor_gain | 1.0000 |
| X:18257034:T:TC | acceptor_gain | 1.0000 |
| X:18258055:T:TA | donor_gain | 1.0000 |
| X:18258204:C:CT | acceptor_gain | 1.0000 |
| X:18258224:CA:C | acceptor_gain | 1.0000 |
| X:18258225:A:C | acceptor_gain | 1.0000 |
AlphaMissense
4602 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:18256997:A:G | L436P | 0.999 |
| X:18305127:G:T | A192E | 0.999 |
| X:18305164:C:G | A180P | 0.999 |
| X:18305169:A:G | L178P | 0.999 |
| X:18242522:A:G | W631R | 0.998 |
| X:18242522:A:T | W631R | 0.998 |
| X:18256997:A:T | L436H | 0.998 |
| X:18258049:A:T | I423K | 0.998 |
| X:18258142:A:G | L392P | 0.998 |
| X:18258205:A:G | L371P | 0.998 |
| X:18258241:A:T | V359D | 0.998 |
| X:18305017:A:G | W229R | 0.998 |
| X:18305017:A:T | W229R | 0.998 |
| X:18305128:C:G | A192P | 0.998 |
| X:18320395:C:A | W141C | 0.998 |
| X:18320395:C:G | W141C | 0.998 |
| X:18320397:A:G | W141R | 0.998 |
| X:18320397:A:T | W141R | 0.998 |
| X:18323969:C:G | R96P | 0.998 |
| X:18324002:A:T | V85D | 0.998 |
| X:18324008:G:T | A83D | 0.998 |
| X:18242449:A:G | F655S | 0.997 |
| X:18256997:A:C | L436R | 0.997 |
| X:18258091:A:T | V409D | 0.997 |
| X:18258166:C:T | G384D | 0.997 |
| X:18258167:C:G | G384R | 0.997 |
| X:18258181:A:G | L379P | 0.997 |
| X:18305012:A:C | C230W | 0.997 |
| X:18305097:A:T | V202D | 0.997 |
| X:18305163:G:T | A180D | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000013675 (X:18247530 A>G), RS1000075187 (X:18298441 C>G), RS1000083478 (X:18247138 G>A), RS1000144884 (X:18310326 C>T), RS1000170210 (X:18282291 C>T), RS1000187737 (X:18288480 G>C), RS1000211313 (X:18301688 A>G), RS1000221114 (X:18281145 C>G,T), RS1000295223 (X:18283427 T>C), RS1000305660 (X:18256471 C>A,T), RS1000307596 (X:18301370 G>C), RS1000377213 (X:18292930 A>T), RS1000439925 (X:18310558 G>A), RS1000558558 (X:18283993 A>G), RS1000568408 (X:18335347 T>C)
Disease associations
OMIM: gene MIM:300208 | disease phenotypes: MIM:300672
GenCC curated gene-disease
Mondo (1): developmental and epileptic encephalopathy, 2 (MONDO:0010396)
Orphanet (3): Early infantile developmental and epileptic encephalopathy (Orphanet:1934), West syndrome (Orphanet:3451), CDKL5-deficiency disorder (Orphanet:505652)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C564064 | CDKL5 deficiency disorder (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| Air Pollutants | increases abundance, increases expression | 2 |
| Benzo(a)pyrene | affects methylation | 2 |
| Tetrachlorodibenzodioxin | affects expression, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| beauvericin | affects cotreatment, decreases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| enniatins | affects cotreatment, decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Coal | increases expression, increases abundance | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Quercetin | decreases expression | 1 |
| Selenium | decreases expression | 1 |
| Smoke | increases abundance, increases expression | 1 |
| Testosterone | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Vanadates | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Gold Compounds | decreases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TK14 | HAP1 SCML2 (-) 1 | Cancer cell line | Male |
| CVCL_XS50 | HAP1 SCML2 (-) 2 | Cancer cell line | Male |
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): developmental and epileptic encephalopathy, 2