MAGEC1
geneOn this page
Also known as MAGE-C1CT7MGC39366CT7.1
Summary
MAGEC1 (MAGE family member C1, HGNC:6812) is a protein-coding gene on chromosome Xq27.2, encoding Melanoma-associated antigen C1 (O60732).
This gene is a member of the melanoma antigen gene (MAGE) family. The proteins of this family are tumor-specific antigens that can be recognized by autologous cytolytic T lymphocytes. This protein contains a large number of unique short repetitive sequences in front of the MAGE-homologous sequence, and therefore is about 800 aa longer than the other MAGE proteins.
Source: NCBI Gene 9947 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 261 total
- Phenotypes (HPO): 1
- MANE Select transcript:
NM_005462
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6812 |
| Approved symbol | MAGEC1 |
| Name | MAGE family member C1 |
| Location | Xq27.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MAGE-C1, CT7, MGC39366, CT7.1 |
| Ensembl gene | ENSG00000155495 |
| Ensembl biotype | protein_coding |
| OMIM | 300223 |
| Entrez | 9947 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000285879, ENST00000406005
RefSeq mRNA: 1 — MANE Select: NM_005462
NM_005462
CCDS: CCDS35417
Canonical transcript exons
ENST00000285879 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001021124 | 141905409 | 141909374 |
| ENSE00001452910 | 141904717 | 141904814 |
| ENSE00001452911 | 141903894 | 141903978 |
| ENSE00003459900 | 141904970 | 141905076 |
Expression profiles
Bgee: expression breadth broad, 22 present calls, max score 84.82.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.5325 / max 89.5641, expressed in 117 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 197888 | 1.2073 | 108 |
| 197889 | 0.3251 | 68 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.82 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.40 | gold quality |
| right testis | UBERON:0004534 | 74.00 | gold quality |
| testis | UBERON:0000473 | 72.52 | gold quality |
| left testis | UBERON:0004533 | 71.65 | gold quality |
| endometrium epithelium | UBERON:0004811 | 56.73 | gold quality |
| decidua | UBERON:0002450 | 56.55 | gold quality |
| hair follicle | UBERON:0002073 | 52.43 | gold quality |
| sural nerve | UBERON:0015488 | 51.12 | gold quality |
| frontal pole | UBERON:0002795 | 50.41 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 50.30 | gold quality |
| tibialis anterior | UBERON:0001385 | 50.28 | silver quality |
| paraflocculus | UBERON:0005351 | 50.18 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 50.18 | gold quality |
| quadriceps femoris | UBERON:0001377 | 50.17 | gold quality |
| cranial nerve II | UBERON:0000941 | 49.71 | silver quality |
| deltoid | UBERON:0001476 | 49.64 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 49.30 | gold quality |
| blood vessel layer | UBERON:0004797 | 49.29 | gold quality |
| cerebellar vermis | UBERON:0004720 | 49.25 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 49.20 | gold quality |
| vastus lateralis | UBERON:0001379 | 49.11 | gold quality |
| oviduct epithelium | UBERON:0004804 | 48.97 | gold quality |
| ileal mucosa | UBERON:0000331 | 48.95 | silver quality |
| olfactory bulb | UBERON:0002264 | 48.92 | gold quality |
| upper leg skin | UBERON:0004262 | 48.90 | silver quality |
| choroid plexus epithelium | UBERON:0003911 | 48.89 | gold quality |
| myocardium | UBERON:0002349 | 48.87 | gold quality |
| type B pancreatic cell | CL:0000169 | 48.83 | gold quality |
| thymus | UBERON:0002370 | 48.68 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.46 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
41 targeting MAGEC1, 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-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-4659A-3P | 99.80 | 72.62 | 4248 |
| HSA-MIR-4659B-3P | 99.80 | 72.62 | 4248 |
Literature-anchored findings (GeneRIF, showing 23)
- MAGE-C1 is cancer-testis antigen suitable for immune targeting in multiple myeloma. (PMID:11872084)
- Overexpression of MAGE-C1 is associated with mammary gland and ovary, non small cell lung carcinoma and metastatic melanoma (PMID:12115486)
- Estimation of CT7, also referred to as MAGE-C1, immunoreactivity is of limited prognostic usefulness in breast cancer. (PMID:17607369)
- MAGEC1/CT7, MAGEA3/6 and LAGE-1 are good candidates for immunotherapy, since together they cover 85% of our MM cases. (PMID:18237105)
- MAGE-C1/CT7 plays an important role in promoting survival in multiple myeloma cells. (PMID:20015885)
- cancer-testis antigens particularly CT7, are immunogenic in multiple myeloma patients (PMID:20108890)
- a content of >/=50% MAGE-C1/CT7 expressing myeloma cells in a sample was associated with reduced overall survival (p=0.013). (PMID:20621094)
- Peripheral blood mononuclear cells from 26 metastatic melanoma patients expressing CT7 in their tumor lesions were analyzed for CT7-specific T-cell responses using overlapping peptides. (PMID:20696919)
- Results suggest that the expression of MAGE-C1/CT7 and MAGE-C2/CT10 in primary melanoma is a potent predictor of sentinel lymph node metastasis. (PMID:21738656)
- Data with miRNA target analysis showed that 12 of them had possible target sites in the MAGEC1 gene. (PMID:21810217)
- the role of MAGE-C1/CT7 in the control of cellular proliferation and cell cycle in myeloma (PMID:22110734)
- the present study confirmed MAGE-C1/CT7 and MAGE-C2/CT7 expression in monoclonal gammopathies (PMID:23180015)
- Expression of the novel CT antigen MAGE-C1/CT7 was most commonly seen with positivity in 24.5 % of primary and 35.1 % of recurrent ovarian carcinomas (PMID:23529156)
- Positive results of immunohistostaining were obtained in 16 (35.6%), 7 (15.6%) and 36 (80.0%) samples using MAGE-C1, NY-ESO-1 and Sp17 antibodies, respectively (PMID:23923079)
- MAGE-C1 and MAGE-C2 are expressed in myeloma, but the chromosome aberrations do not always correlate with expression (PMID:24820892)
- Study identified the YKL40 and MAGEC1 genes as temozolomide (TMZ) resistanceassociated biomarkers in the TMZR U87 cell line, which showed an obvious resistance in vivo. (PMID:24842123)
- MAGEC1/CT7 was expressed in 66% of MM samples. (PMID:24896625)
- MAGE C1 expression was observed consistently in the early stem cells (CD34+) and early pro-B to pre-B cells (CD34+/-/CD19+), as well as the proliferating plasma cells. (PMID:25793710)
- expression of CT7 and CT10 throughout the different subtypes of mucosal melanoma and tumor development. (PMID:26161400)
- MAGE-C1 and MAGE-C2 expressions were positively associated with high tumor grade and reduced recurrence-free survival in breast cancer. (PMID:26321295)
- Results suggest that melanoma antigen, family C, 1 protein (MAGE-C1/CT7) expression is associated with inferior outcome of patients with multiple myeloma (MM) from a Chinese population. (PMID:27248683)
- In patients with Colon cancer, the expression of MAGE-C1 gene was related to a favorable prognosis. (PMID:28631709)
- The Association of Melanoma-Associated Antigen-C Gene With Clinicopathological Characteristics and Prognosis in Breast Cancer: A Systematic Review and Meta-Analysis. (PMID:37872029)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ndnl2 | ENSDARG00000058212 |
| mus_musculus | Magea13 | ENSMUSG00000046180 |
| rattus_norvegicus | Magea13 | ENSRNOG00000003532 |
| drosophila_melanogaster | MAGE | FBGN0037481 |
Paralogs (37): MAGEC2 (ENSG00000046774), TRO (ENSG00000067445), MAGEB2 (ENSG00000099399), MAGED2 (ENSG00000102316), MAGEB4 (ENSG00000120289), MAGEA9 (ENSG00000123584), MAGEA10 (ENSG00000124260), MAGEA4 (ENSG00000147381), MAGED4 (ENSG00000154545), MAGEA8 (ENSG00000156009), MAGEC3 (ENSG00000165509), MAGEB6 (ENSG00000176746), MAGEB18 (ENSG00000176774), MAGEF1 (ENSG00000177383), MAGEB10 (ENSG00000177689), MAGED1 (ENSG00000179222), NDN (ENSG00000182636), MAGEB17 (ENSG00000182798), MAGEA2B (ENSG00000183305), NSMCE3 (ENSG00000185115), MAGEA11 (ENSG00000185247), MAGEE2 (ENSG00000186675), MAGED4B (ENSG00000187243), MAGEH1 (ENSG00000187601), MAGEB5 (ENSG00000188408), MAGEB16 (ENSG00000189023), MAGEA6 (ENSG00000197172), MAGEA1 (ENSG00000198681), MAGEB3 (ENSG00000198798), MAGEE1 (ENSG00000198934), MAGEA12 (ENSG00000213401), MAGEB1 (ENSG00000214107), MAGEA3 (ENSG00000221867), MAGEB6B (ENSG00000232030), MAGEL2 (ENSG00000254585), MAGEA9B (ENSG00000267978), MAGEA2 (ENSG00000268606)
Protein
Protein identifiers
Melanoma-associated antigen C1 — O60732 (reviewed: O60732)
Alternative names: Cancer/testis antigen 7.1, MAGE-C1 antigen
All UniProt accessions (1): O60732
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cytoplasm.
Tissue specificity. Expressed in testis and in tumors of a wide variety of histologic types.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O60732-1 | 1 | yes |
| O60732-2 | 2 |
RefSeq proteins (1): NP_005453* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002190 | MHD_dom | Domain |
| IPR037445 | MAGE | Family |
| IPR041898 | MAGE_WH1 | Homologous_superfamily |
| IPR041899 | MAGE_WH2 | Homologous_superfamily |
Pfam: PF01454
UniProt features (41 total): sequence conflict 15, compositionally biased region 9, sequence variant 6, modified residue 4, region of interest 4, chain 1, domain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O60732-F1 | 49.28 | 0.03 |
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): 63, 207, 382, 1063
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 41 (showing top):
MISSIAGLIA_REGULATED_BY_METHYLATION_UP, MODULE_379, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, MODULE_242, HAMAI_APOPTOSIS_VIA_TRAIL_DN, PARENT_MTOR_SIGNALING_UP, MODULE_104, ZHAN_MULTIPLE_MYELOMA_MS_DN, MODULE_7, MORF_MYL3, MODULE_181, MORF_ERCC4, chrXq27, GOBP_NEGATIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, MODULE_41
GO Biological Process (1): negative regulation of transcription by RNA polymerase II (GO:0000122)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of transcription by RNA polymerase II | 1 |
| transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
716 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MAGEC1 | DSE | Q9UL01 | 828 |
| MAGEC1 | SART1 | O43290 | 810 |
| MAGEC1 | CTAG1A | P78358 | 767 |
| MAGEC1 | XAGE1B | Q9HD64 | 726 |
| MAGEC1 | CTAG2 | O75638 | 696 |
| MAGEC1 | SSX4 | O60224 | 654 |
| MAGEC1 | CT45A1 | Q5HYN5 | 649 |
| MAGEC1 | SAGE1 | Q9NXZ1 | 625 |
| MAGEC1 | SSX1 | Q16384 | 610 |
| MAGEC1 | CAGE1 | Q8TC20 | 609 |
| MAGEC1 | LIPI | Q6XZB0 | 571 |
| MAGEC1 | SLC39A7 | Q92504 | 547 |
| MAGEC1 | LUZP4 | Q9P127 | 541 |
| MAGEC1 | ACRBP | Q8NEB7 | 540 |
| MAGEC1 | MAGEB6 | Q8N7X4 | 525 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAGEC1 | CTAG1A | psi-mi:“MI:0915”(physical association) | 0.540 |
| CTAG1A | MAGEC1 | psi-mi:“MI:0915”(physical association) | 0.540 |
| MAGEC1 | CTAG1A | psi-mi:“MI:0403”(colocalization) | 0.540 |
| SUV39H1 | MAGEC1 | psi-mi:“MI:0914”(association) | 0.530 |
| RUSC2 | MAGEC1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAGEC1 | GTF2F1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ECHDC2 | MAGEC1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAGEC1 | ATP5MG | psi-mi:“MI:0915”(physical association) | 0.370 |
| MRPL19 | MAGEC1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MAGEC1 | H2AZ1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SOX2 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
| AGGF1 | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (21): MAGEC1 (Affinity Capture-MS), MAGEC1 (Affinity Capture-MS), MAGEC1 (Affinity Capture-MS), MAGEC1 (Affinity Capture-MS), MAGEC1 (Affinity Capture-MS), MAGEC1 (Proximity Label-MS), MAGEC1 (Affinity Capture-MS), MAGEC1 (Affinity Capture-MS), MAGEC1 (Affinity Capture-MS), MAGEC1 (Affinity Capture-MS), CTAG1B (Two-hybrid), GTF2F1 (Two-hybrid), H2AFZ (Two-hybrid), ROCK2 (Two-hybrid), ATP5L (Two-hybrid)
ESM2 similar proteins: A0A087WUL8, A0A0J9YWL9, A0A0U1RQI7, A6NJU9, A6NNC1, A6QL64, A7XUY5, A8MRT5, B2SU53, C9JG80, E5RHQ5, E9Q6E9, F8W0I5, O43345, O59779, O60732, P02895, P06916, P09815, P0DPF3, P13208, P13813, P14417, P20465, P20469, P21733, P32072, Q00130, Q13117, Q3BBV0, Q4ZJY7, Q4ZJZ0, Q4ZJZ1, Q4ZJZ3, Q5HY64, Q5JPF3, Q5SSG8, Q5TAG4, Q5TI25, Q63661
Diamond homologs: A0A0J9YX57, A1A5P9, A2A368, A2A9R3, A6NCF6, A6QLI5, A8MXT2, O15479, O15480, O15481, O60732, P25233, P43355, P43356, P43357, P43358, P43360, P43361, P43362, P43363, P43364, P43365, P43366, Q12816, Q4R998, Q5PPP4, Q5RFC2, Q6AY37, Q6ITT4, Q6PCZ4, Q8BQR7, Q8N7X4, Q8TD90, Q8TD91, Q96JG8, Q96LZ2, Q96M61, Q96MG7, Q99608, Q9BE18
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
261 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 194 |
| Likely benign | 41 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
611 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:141904812:AAGGT:A | donor_loss | 1.0000 |
| X:141904815:GTGA:G | donor_loss | 1.0000 |
| X:141904816:T:A | donor_loss | 1.0000 |
| X:141905303:G:GT | donor_gain | 1.0000 |
| X:141903975:CAAGG:C | donor_loss | 0.9900 |
| X:141903978:GGT:G | donor_loss | 0.9900 |
| X:141903979:G:C | donor_loss | 0.9900 |
| X:141904713:GCAG:G | acceptor_loss | 0.9900 |
| X:141904714:CAGGT:C | acceptor_loss | 0.9900 |
| X:141904715:A:AG | acceptor_gain | 0.9900 |
| X:141904715:AG:A | acceptor_gain | 0.9900 |
| X:141904716:G:GA | acceptor_gain | 0.9900 |
| X:141904716:GG:G | acceptor_gain | 0.9900 |
| X:141904716:GGT:G | acceptor_gain | 0.9900 |
| X:141904815:G:GG | donor_gain | 0.9900 |
| X:141905044:GCT:G | donor_gain | 0.9900 |
| X:141905294:G:GT | donor_gain | 0.9900 |
| X:141905300:G:GT | donor_gain | 0.9900 |
| X:141904715:AGGT:A | acceptor_gain | 0.9800 |
| X:141904716:GGTG:G | acceptor_gain | 0.9800 |
| X:141905042:GAGCT:G | donor_gain | 0.9800 |
| X:141905075:GG:G | donor_gain | 0.9800 |
| X:141905076:GG:G | donor_gain | 0.9800 |
| X:141905077:G:GG | donor_gain | 0.9800 |
| X:141905077:GT:G | donor_loss | 0.9800 |
| X:141905078:TGAGT:T | donor_loss | 0.9800 |
| X:141905079:G:GG | donor_loss | 0.9800 |
| X:141905719:G:T | donor_gain | 0.9800 |
| X:141904716:GGTGC:G | acceptor_gain | 0.9700 |
| X:141904967:CAGGT:C | acceptor_loss | 0.9700 |
AlphaMissense
7579 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:141908610:T:C | F1069S | 0.996 |
| X:141908615:T:A | W1071R | 0.994 |
| X:141908615:T:C | W1071R | 0.994 |
| X:141908160:T:C | L919P | 0.993 |
| X:141908148:T:C | L915S | 0.992 |
| X:141908205:T:G | M934R | 0.991 |
| X:141908417:A:C | S1005R | 0.991 |
| X:141908419:T:A | S1005R | 0.991 |
| X:141908419:T:G | S1005R | 0.991 |
| X:141908261:G:C | A953P | 0.990 |
| X:141908609:T:C | F1069L | 0.990 |
| X:141908611:C:A | F1069L | 0.990 |
| X:141908611:C:G | F1069L | 0.990 |
| X:141908574:G:C | R1057P | 0.988 |
| X:141908205:T:C | M934T | 0.987 |
| X:141908205:T:A | M934K | 0.986 |
| X:141908565:T:C | L1054P | 0.986 |
| X:141908617:G:C | W1071C | 0.986 |
| X:141908617:G:T | W1071C | 0.986 |
| X:141908647:G:C | K1081N | 0.986 |
| X:141908647:G:T | K1081N | 0.986 |
| X:141908663:T:C | F1087L | 0.985 |
| X:141908665:T:A | F1087L | 0.985 |
| X:141908665:T:G | F1087L | 0.985 |
| X:141908217:T:A | V938D | 0.984 |
| X:141908240:T:C | F946L | 0.982 |
| X:141908242:T:A | F946L | 0.982 |
| X:141908242:T:G | F946L | 0.982 |
| X:141908262:C:A | A953D | 0.982 |
| X:141908241:T:C | F946S | 0.981 |
dbSNP variants (sampled 300 via entrez): RS1000480354 (X:141908113 G>A), RS1001973129 (X:141905592 C>G,T), RS1003682 (X:141903065 T>C), RS1003696313 (X:141904296 G>A), RS1004194234 (X:141903497 T>A), RS1004236684 (X:141904507 C>T), RS1004602779 (X:141905325 C>T), RS1005066801 (X:141904182 G>C,T), RS1005711597 (X:141903921 C>G,T), RS1006612561 (X:141902627 G>C), RS1006743301 (X:141904941 C>A), RS1007746116 (X:141908053 C>T), RS1008746953 (X:141909381 G>C), RS1009895931 (X:141905042 G>T), RS1010287713 (X:141909604 G>A)
Disease associations
OMIM: gene MIM:300223 | disease phenotypes: MIM:209850
GenCC curated gene-disease
Mondo (1): autism (MONDO:0005260)
Orphanet (0):
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000717 | Autism |
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST009007_2 | High-grade serous ovarian cancer | 2.000000e-07 |
| GCST012335_30 | Hodgkin’s lymphoma | 7.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:1001516 | ovarian serous carcinoma |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D001321 | Autistic Disorder | F03.625.164.113.500 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
8 total (human), top 8 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| TAK-243 | increases sumoylation | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| Acetaminophen | decreases expression | 1 |
| Gemcitabine | increases expression | 1 |
| Etoposide | affects response to substance | 1 |
| Valproic Acid | decreases methylation | 1 |
| Sodium Selenite | decreases expression | 1 |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00211796 | PHASE4 | COMPLETED | Divalproex Sodium ER in Adult Autism |
| NCT00391261 | PHASE4 | COMPLETED | An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications. |
| NCT00409747 | PHASE4 | COMPLETED | Minocycline to Treat Childhood Regressive Autism |
| NCT00576732 | PHASE4 | COMPLETED | A Study of the Effectiveness and Safety of Two Doses of Risperidone in the Treatment of Children and Adolescents With Autistic Disorder |
| NCT00844753 | PHASE4 | COMPLETED | Atomoxetine, Placebo and Parent Management Training in Autism |
| NCT01028820 | PHASE4 | COMPLETED | FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders |
| NCT01098383 | PHASE4 | UNKNOWN | Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Spectrum Disorders |
| NCT01333865 | PHASE4 | COMPLETED | A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders |
| NCT01337700 | PHASE4 | COMPLETED | Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism |
| NCT01695200 | PHASE4 | COMPLETED | Omega-3 Fatty Acids in Autism Spectrum Disorders |
| NCT02069977 | PHASE4 | UNKNOWN | Study to Evaluate the Efficacy and Safety of Aripiprazole |
| NCT02096952 | PHASE4 | COMPLETED | Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD |
| NCT02199925 | PHASE4 | UNKNOWN | An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum |
| NCT02235467 | PHASE4 | COMPLETED | Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism |
| NCT02255565 | PHASE4 | COMPLETED | Dose Response Effects of Quillivant XR in Children With ADHD and Autism: A Pilot Study |
| NCT02940574 | PHASE4 | COMPLETED | Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders |
| NCT03333629 | PHASE4 | COMPLETED | Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes |
| NCT03337646 | PHASE4 | COMPLETED | Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism |
| NCT03538431 | PHASE4 | COMPLETED | Improving Driving in Young People With Autism Spectrum Disorders |
| NCT03757585 | PHASE4 | COMPLETED | Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD) |
| NCT04903353 | PHASE4 | COMPLETED | Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole |
| NCT05063656 | PHASE4 | COMPLETED | Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin |
| NCT05146245 | PHASE4 | UNKNOWN | Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT |
| NCT05916339 | PHASE4 | RECRUITING | AWARE: Management of ADHD in Autism Spectrum Disorder |
| NCT05954052 | PHASE4 | TERMINATED | A Study of Glutathione in Children With Autism Spectrum Disorder |
| NCT06853665 | PHASE4 | RECRUITING | The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine |
| NCT07054697 | PHASE4 | COMPLETED | Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder |
| NCT07161804 | PHASE4 | COMPLETED | Pilot RCT Using Homeopathic Medicines in ASD |
| NCT07439042 | PHASE4 | NOT_YET_RECRUITING | Buspirone for Anxiety in Autistic Youth |
| NCT00036231 | PHASE3 | TERMINATED | Synthetic Human Secretin in Children With Autism and Gastrointestinal Dysfunction |
| NCT00036244 | PHASE3 | COMPLETED | Synthetic Human Secretin in Children With Autism |
| NCT00065884 | PHASE3 | UNKNOWN | Valproate Response in Aggressive Autistic Adolescents |
| NCT00065962 | PHASE3 | COMPLETED | Secretin for the Treatment of Autism |
| NCT00252603 | PHASE3 | COMPLETED | Galantamine Versus Placebo in Childhood Autism |
| NCT00346736 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00352248 | PHASE3 | COMPLETED | Randomized Controlled Trial of Acupuncture Versus Sham Acupuncture in Autistic Spectrum Disorder |
| NCT00352352 | PHASE3 | COMPLETED | Use of Acupuncture In Children With Autistic Spectrum Disorder |
| NCT00355329 | PHASE3 | COMPLETED | Randomized Control Trial of Using Tongue Acupuncture in Autistic Spectrum Disorder Using PET Scan for Clinical Correlation |
| NCT00498173 | PHASE3 | COMPLETED | Effectiveness of Atomoxetine in Treating ADHD Symptoms in Children and Adolescents With Autism |
| NCT00541346 | PHASE3 | COMPLETED | A Pilot Study of Daytrana TM in Children With Autism Co-Morbid for Attention Deficit Hyperactivity Disorder (ADHD) Symptoms |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Hodgkins lymphoma