MAGEA6
gene geneOn this page
Also known as CT1.6MAGE3BMAGE-3b
Summary
MAGEA6 (MAGE family member A6, HGNC:6804) is a protein-coding gene on chromosome Xq28, encoding Melanoma-associated antigen 6 (P43360). Activator of ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases that acts as a repressor of autophagy.
This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 4105 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 61 total
- MANE Select transcript:
NM_005363
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6804 |
| Approved symbol | MAGEA6 |
| Name | MAGE family member A6 |
| Location | Xq28 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CT1.6, MAGE3B, MAGE-3b |
| Ensembl gene | ENSG00000197172 |
| Ensembl biotype | protein_coding |
| OMIM | 300176 |
| Entrez | 4105 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000329342, ENST00000412733, ENST00000457643, ENST00000616035, ENST00000923265
RefSeq mRNA: 2 — MANE Select: NM_005363
NM_005363, NM_175868
CCDS: CCDS76050
Canonical transcript exons
ENST00000329342 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001691201 | 152769654 | 152769689 |
| ENSE00001753927 | 152767796 | 152767861 |
| ENSE00001853660 | 152766136 | 152767715 |
Expression profiles
Bgee: expression breadth broad, 31 present calls, max score 87.79.
Top tissues by expression
119 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 | 87.79 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.10 | gold quality |
| right testis | UBERON:0004534 | 72.99 | gold quality |
| testis | UBERON:0000473 | 71.76 | gold quality |
| left testis | UBERON:0004533 | 70.68 | gold quality |
| placenta | UBERON:0001987 | 43.25 | silver quality |
| bone marrow cell | CL:0002092 | 37.98 | gold quality |
| sural nerve | UBERON:0015488 | 37.24 | gold quality |
| colonic epithelium | UBERON:0000397 | 37.20 | gold quality |
| ventricular zone | UBERON:0003053 | 36.48 | gold quality |
| cortical plate | UBERON:0005343 | 36.47 | gold quality |
| ganglionic eminence | UBERON:0004023 | 35.49 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 34.00 | gold quality |
| muscle tissue | UBERON:0002385 | 33.54 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 33.38 | gold quality |
| bone marrow | UBERON:0002371 | 32.67 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 32.15 | gold quality |
| liver | UBERON:0002107 | 31.33 | gold quality |
| blood | UBERON:0000178 | 30.65 | gold quality |
| muscle of leg | UBERON:0001383 | 29.88 | gold quality |
| stromal cell of endometrium | CL:0002255 | 29.87 | gold quality |
| right coronary artery | UBERON:0001625 | 29.62 | silver quality |
| gastrocnemius | UBERON:0001388 | 29.31 | gold quality |
| urinary bladder | UBERON:0001255 | 29.08 | gold quality |
| prefrontal cortex | UBERON:0000451 | 29.04 | gold quality |
| right lobe of liver | UBERON:0001114 | 28.88 | gold quality |
| heart left ventricle | UBERON:0002084 | 28.78 | gold quality |
| cortex of kidney | UBERON:0001225 | 28.24 | gold quality |
| endocervix | UBERON:0000458 | 28.16 | gold quality |
| duodenum | UBERON:0002114 | 28.14 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-11 | yes | 89.79 |
| E-ANND-3 | no | 0.33 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
29 targeting MAGEA6, 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-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-4496 | 99.88 | 68.89 | 2236 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-4503 | 99.85 | 71.45 | 1869 |
| HSA-MIR-383-3P | 99.85 | 65.84 | 1359 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-567 | 99.63 | 68.57 | 1219 |
| HSA-MIR-4261 | 99.59 | 70.30 | 3415 |
| HSA-MIR-216A-5P | 99.50 | 68.02 | 1288 |
| HSA-MIR-513C-5P | 99.50 | 68.42 | 1730 |
| HSA-MIR-514B-5P | 99.50 | 68.19 | 1766 |
| HSA-MIR-147B-5P | 99.45 | 70.62 | 2432 |
| HSA-MIR-372-5P | 99.41 | 69.11 | 2299 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-4427 | 99.34 | 70.33 | 1854 |
| HSA-MIR-892C-5P | 99.16 | 70.56 | 2116 |
| HSA-MIR-371A-5P | 99.08 | 66.51 | 1914 |
| HSA-MIR-31-5P | 98.58 | 68.35 | 1239 |
| HSA-MIR-12120 | 98.05 | 68.44 | 1768 |
| HSA-MIR-526B-5P | 97.41 | 67.99 | 1074 |
| HSA-MIR-5586-3P | 95.51 | 67.00 | 805 |
| HSA-MIR-550B-3P | 95.43 | 67.73 | 599 |
| HSA-MIR-4301 | 95.00 | 65.22 | 554 |
Literature-anchored findings (GeneRIF, showing 17)
- Disease-associated bias in T helper type 1 (Th1)/Th2 CD4(+) T cell responses against MAGE-6 in HLA-DRB10401(+) patients with renal cell carcinoma or melanoma. (PMID:12208877)
- MAGE-6 encodes HLA-DRbeta1*0401-presented epitopes recognized by CD4+ T cells from patients with melanoma or renal cell carcinoma (PMID:12631591)
- Multiple simultaneous detection of MAGE-A [subtypes] more specific and sensitive than detection of single MAGE-A antigen for the diagnostic and prognostic evaluation of oral squamous cell carcinoma (PMID:18197853)
- Report MAGEA1-A6 expression in sputum suggests presence of lung cancer cells or precancerous cells. (PMID:22134685)
- To identify novel CTL epitopes from MAGE-A6 and MAGE-A12 antigens. (PMID:22707303)
- MAGEA3/6 positivity was associated with significantly better disease-free survival. (PMID:25564441)
- Study describes a widespread mechanism to suppress AMPK through its ubiquitination and degradation by the cancer-specific MAGE-A3/6-TRIM28 ubiquitin ligase. MAGE-A3 and MAGE-A6 are highly similar proteins normally expressed only in the male germline but frequently re-activated in human cancers. (PMID:25679763)
- MageA6 and MageA11 form a protein complex resulting in the stabilization of MageA11 and consequently the enhancement of androgen receptor activity. (PMID:28542476)
- MAGEA6 promotes glioma cell survival possibly via targeting AMPKalpha1. (PMID:29024810)
- MAGEA6 knockdown by targeted-shRNA induced AMPK stabilization and activation, which led to mTOR complex 1 (mTORC1) in-activation and RCC cell death/apoptosis. (PMID:29448247)
- Data indicate that miR-1273g represses melanoma antigen family A 3/melanoma antigen family A 6 (MAGEA3/6 )expression in colorectal cancer (CRC) cells and tissues, which may suggest a cancer-specific therapeutic. (PMID:30056111)
- data indicate that the activation of CT-GABRA3 is correlated with that of MAGEA6. Therefore, MAGEA6 is linked with CT-GABRA3 through a bidirectional promoter. (PMID:31593956)
- High MAGEA6 expression is associated with recurrence in Gastric Cancer. (PMID:31704814)
- Lnc-THOR silencing inhibits human glioma cell survival by activating MAGEA6-AMPK signaling. (PMID:31727877)
- Differential expression of MAGEA6 toggles autophagy to promote pancreatic cancer progression. (PMID:32270762)
- Co-expression of cancer-testis antigens of MAGE-A6 and MAGE-A11 is associated with tumor aggressiveness in patients with bladder cancer. (PMID:35022469)
- Knockdown of MAGE-A6 enhanced the irradiation sensitivity of non-small cell lung cancer cells by activating the AMPK pathway. (PMID:35285568)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ndnl2 | ENSDARG00000058212 |
| drosophila_melanogaster | MAGE | FBGN0037481 |
Paralogs (37): MAGEC2 (ENSG00000046774), TRO (ENSG00000067445), MAGEB2 (ENSG00000099399), MAGED2 (ENSG00000102316), MAGEB4 (ENSG00000120289), MAGEA9 (ENSG00000123584), MAGEA10 (ENSG00000124260), MAGEA4 (ENSG00000147381), MAGED4 (ENSG00000154545), MAGEC1 (ENSG00000155495), 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), 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 6 — P43360 (reviewed: P43360)
Alternative names: Cancer/testis antigen 1.6, MAGE-6 antigen, MAGE3B antigen
All UniProt accessions (3): E7ETG4, E7EUF2, P43360
UniProt curated annotations — full annotation on UniProt →
Function. Activator of ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases that acts as a repressor of autophagy. May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in tumor transformation or aspects of tumor progression. In vitro promotes cell viability in melanoma cell lines.
Subunit / interactions. Interacts with TRIM28.
Tissue specificity. Expressed in many tumors of several types, such as melanoma, head and neck squamous cell carcinoma, lung carcinoma and breast carcinoma, but not in normal tissues except for testes.
Post-translational modifications. Ubiquitinated by the DCX(DCAF12) complex specifically recognizes the diglutamate (Glu-Glu) at the C-terminus, leading to its degradation.
RefSeq proteins (2): NP_005354, NP_787064 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002190 | MHD_dom | Domain |
| IPR021072 | MAGE_N | Domain |
| IPR037445 | MAGE | Family |
| IPR041898 | MAGE_WH1 | Homologous_superfamily |
| IPR041899 | MAGE_WH2 | Homologous_superfamily |
Pfam: PF01454, PF12440
UniProt features (7 total): compositionally biased region 3, chain 1, domain 1, region of interest 1, sequence variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P43360-F1 | 72.60 | 0.46 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 50 (showing top):
GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_REGULATION_OF_AUTOPHAGY, HERNANDEZ_ABERRANT_MITOSIS_BY_DOCETACEL_4NM_UP, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_1_UP, GOBP_NEGATIVE_REGULATION_OF_AUTOPHAGY, GOBP_REGULATION_OF_CATABOLIC_PROCESS, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, HOFMANN_MYELODYSPLASTIC_SYNDROM_RISK_UP, HAMAI_APOPTOSIS_VIA_TRAIL_DN, GOBP_NEGATIVE_REGULATION_OF_CATABOLIC_PROCESS, GOMF_HISTONE_DEACETYLASE_BINDING, ALONSO_METASTASIS_NEURAL_UP, HOFMANN_MYELODYSPLASTIC_SYNDROM_LOW_RISK_DN, chrXq28
GO Biological Process (2): negative regulation of transcription by RNA polymerase II (GO:0000122), negative regulation of autophagy (GO:0010507)
GO Molecular Function (2): histone deacetylase binding (GO:0042826), protein binding (GO:0005515)
GO Cellular Component (1): nucleus (GO:0005634)
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 |
| autophagy | 1 |
| negative regulation of catabolic process | 1 |
| regulation of autophagy | 1 |
| enzyme binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
398 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| MAGEA6 | CTAG2 | O75638 | 825 |
| MAGEA6 | CTAG1A | P78358 | 786 |
| MAGEA6 | CSAG1 | Q6PB30 | 636 |
| MAGEA6 | TRIM28 | Q13263 | 622 |
| MAGEA6 | ARHGAP44 | Q17R89 | 472 |
| MAGEA6 | NPAS4 | Q8IUM7 | 470 |
| MAGEA6 | A0A1W2PQG5 | A0A1W2PQG5 | 445 |
| MAGEA6 | ANAPC4 | Q9UJX5 | 438 |
| MAGEA6 | CDC26 | Q8NHZ8 | 437 |
| MAGEA6 | ANAPC7 | Q9UJX3 | 437 |
| MAGEA6 | OR52E6 | Q96RD3 | 431 |
| MAGEA6 | ANAPC1 | Q9H1A4 | 422 |
| MAGEA6 | ANAPC11 | Q9NYG5 | 419 |
| MAGEA6 | ZIM2 | Q9NZV7 | 417 |
| MAGEA6 | GAGE4 | P0DSO3 | 377 |
IntAct
376 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAGEA6 | ATPAF2 | psi-mi:“MI:0915”(physical association) | 0.810 |
| ATPAF2 | MAGEA6 | psi-mi:“MI:0915”(physical association) | 0.810 |
| TULP3 | MAGEA6 | psi-mi:“MI:0915”(physical association) | 0.780 |
| STAMBPL1 | MAGEA6 | psi-mi:“MI:0915”(physical association) | 0.780 |
| MAGEA6 | GFOD1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| MAGEA6 | TULP3 | psi-mi:“MI:0915”(physical association) | 0.780 |
| MAGEA6 | STAMBPL1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| NCK2 | MAGEA6 | psi-mi:“MI:0915”(physical association) | 0.720 |
| RPL37A | MAGEA6 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAGEA6 | KLHL38 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MORN3 | MAGEA6 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAGEA6 | EXOC5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MIPOL1 | MAGEA6 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LIN37 | MAGEA6 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAGEA6 | BCL7B | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAGEA6 | RASSF4 | psi-mi:“MI:0915”(physical association) | 0.720 |
| SH2D4A | MAGEA6 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LSM2 | MAGEA6 | psi-mi:“MI:0915”(physical association) | 0.720 |
| MAGEA6 | NCK2 | psi-mi:“MI:0915”(physical association) | 0.720 |
BioGRID (120): MAGEA6 (Two-hybrid), PDE4D (Two-hybrid), RPL37A (Two-hybrid), STX5 (Two-hybrid), TULP3 (Two-hybrid), NCK2 (Two-hybrid), SNX4 (Two-hybrid), BCL7B (Two-hybrid), ATP6V1G1 (Two-hybrid), AKAP9 (Two-hybrid), TXNDC9 (Two-hybrid), BET1 (Two-hybrid), EXOC5 (Two-hybrid), ACOT7 (Two-hybrid), FRMPD1 (Two-hybrid)
ESM2 similar proteins: A0A0J9YX57, A1A5P9, A2A368, A2A9R3, A8MXT2, B2KFW1, O15479, O15480, O15481, O15553, P0C6Y7, P10073, P17040, P25233, P43355, P43356, P43357, P43358, P43360, P43362, P43363, P43364, P43366, Q13342, Q16666, Q4R998, Q5PPP4, Q5RD14, Q6AY37, Q6PCZ4, Q8BQR7, Q8IWY8, Q8IX06, Q8N660, Q8N7X4, Q8TD90, Q96DU7, Q96LZ2, Q96M61, Q99608
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
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DCAF12 | “down-regulates quantity by destabilization” | MAGEA6 | binding |
| Cullin4-RBX1-DDB1 | “down-regulates quantity by destabilization” | MAGEA6 | polyubiquitination |
Disease & clinical
Clinical variants and AI predictions
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 52 |
| Likely benign | 4 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
555 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| X:152767790:A:AC | donor_gain | 1.0000 |
| X:152767791:C:CC | donor_gain | 1.0000 |
| X:152767794:A:AC | donor_gain | 1.0000 |
| X:152767795:C:CC | donor_gain | 1.0000 |
| X:152767795:CAG:C | donor_gain | 1.0000 |
| X:152767795:CAGAT:C | donor_gain | 1.0000 |
| X:152769651:TA:T | donor_loss | 1.0000 |
| X:152769653:C:CT | donor_loss | 1.0000 |
| X:152767711:CTGGC:C | acceptor_gain | 0.9900 |
| X:152767713:GGCCT:G | acceptor_loss | 0.9900 |
| X:152767714:GCCTG:G | acceptor_loss | 0.9900 |
| X:152767716:C:CC | acceptor_gain | 0.9900 |
| X:152767717:T:A | acceptor_loss | 0.9900 |
| X:152767788:TTAC:T | donor_loss | 0.9900 |
| X:152767789:TACT:T | donor_loss | 0.9900 |
| X:152767790:ACTT:A | donor_loss | 0.9900 |
| X:152767791:CTTA:C | donor_gain | 0.9900 |
| X:152767792:TTA:T | donor_loss | 0.9900 |
| X:152767793:T:TC | donor_loss | 0.9900 |
| X:152767794:A:T | donor_loss | 0.9900 |
| X:152767795:CA:C | donor_gain | 0.9900 |
| X:152767795:CAGA:C | donor_gain | 0.9900 |
| X:152769652:A:AC | donor_gain | 0.9900 |
| X:152769653:C:CC | donor_gain | 0.9900 |
| X:152769653:CCTTG:C | donor_gain | 0.9900 |
| X:152769657:G:A | donor_gain | 0.9900 |
| X:152767860:ACCT:A | acceptor_loss | 0.9800 |
| X:152767862:C:CC | acceptor_gain | 0.9800 |
| X:152767863:T:C | acceptor_loss | 0.9800 |
| X:152767713:GGC:G | acceptor_gain | 0.9700 |
AlphaMissense
2052 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| X:152767165:A:C | F162L | 0.948 |
| X:152767165:A:T | F162L | 0.948 |
| X:152767167:A:G | F162L | 0.948 |
| X:152766839:A:G | F271S | 0.942 |
| X:152766838:G:C | F271L | 0.928 |
| X:152766838:G:T | F271L | 0.928 |
| X:152766840:A:G | F271L | 0.928 |
| X:152766834:A:G | W273R | 0.927 |
| X:152766834:A:T | W273R | 0.927 |
| X:152766832:C:A | W273C | 0.914 |
| X:152766832:C:G | W273C | 0.914 |
| X:152766831:C:G | G274R | 0.894 |
| X:152766875:C:G | R259P | 0.891 |
| X:152767282:C:A | K123N | 0.873 |
| X:152767282:C:G | K123N | 0.873 |
| X:152767247:A:G | M135T | 0.869 |
| X:152766884:A:G | L256P | 0.864 |
| X:152767163:C:A | G163V | 0.864 |
| X:152766830:C:T | G274D | 0.851 |
| X:152767210:A:C | F147L | 0.850 |
| X:152767210:A:T | F147L | 0.850 |
| X:152767212:A:G | F147L | 0.850 |
| X:152766823:C:A | R276S | 0.845 |
| X:152766823:C:G | R276S | 0.845 |
| X:152766839:A:C | F271C | 0.845 |
| X:152767178:A:G | L158S | 0.838 |
| X:152766884:A:T | L256Q | 0.837 |
| X:152766811:T:A | E280D | 0.829 |
| X:152766811:T:G | E280D | 0.829 |
| X:152766833:C:G | W273S | 0.828 |
dbSNP variants (sampled 300 via entrez): RS1047232 (X:152766387 A>C,G), RS1047234 (X:152766383 C>A,T), RS1157341385 (X:152771059 A>G), RS1157579855 (X:152769961 C>T), RS1157617735 (X:152767683 T>C), RS1157749045 (X:152766180 C>T), RS1159499064 (X:152770479 G>A), RS1159734005 (X:152768379 C>G), RS1160675613 (X:152770143 C>T), RS1161428356 (X:152770380 T>C), RS1161533488 (X:152771152 C>T), RS1161698114 (X:152769976 G>A), RS1161774599 (X:152768032 G>A), RS1161791731 (X:152766519 CAA>C,CAAA), RS1161914393 (X:152767808 T>C)
Disease associations
OMIM: gene MIM:300176 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST011353_5 | Serum alkaline phosphatase levels | 4.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004533 | alkaline phosphatase measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Decitabine | affects expression | 2 |
| Mitomycin | affects response to substance, affects binding, decreases expression, increases response to substance | 2 |
| butyraldehyde | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| Cisplatin | affects binding, decreases expression, increases response to substance | 1 |
| Etoposide | affects response to substance | 1 |
| Fluorouracil | decreases expression, affects response to substance | 1 |
| Gallic Acid | increases expression | 1 |
| Methotrexate | affects response to substance | 1 |
| Mitoxantrone | affects response to substance | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B1WC | Abcam HeLa MAGEA6 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.