HLA-DMA
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Also known as D6S222ERING6
Summary
HLA-DMA (major histocompatibility complex, class II, DM alpha, HGNC:4934) is a protein-coding gene on chromosome 6p21.32, encoding HLA class II histocompatibility antigen, DM alpha chain (P28067). Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides.
HLA-DMA belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DMA) and a beta chain (DMB), both anchored in the membrane. It is located in intracellular vesicles. DM plays a central role in the peptide loading of MHC class II molecules by helping to release the CLIP molecule from the peptide binding site. Class II molecules are expressed in antigen presenting cells (APC: B lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa and its gene contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, exon 4 encodes the transmembrane domain and the cytoplasmic tail.
Source: NCBI Gene 3108 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 14 total
- MANE Select transcript:
NM_006120
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4934 |
| Approved symbol | HLA-DMA |
| Name | major histocompatibility complex, class II, DM alpha |
| Location | 6p21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | D6S222E, RING6 |
| Ensembl gene | ENSG00000204257 |
| Ensembl biotype | protein_coding |
| OMIM | 142855 |
| Entrez | 3108 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 18 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000374843, ENST00000395303, ENST00000395305, ENST00000422832, ENST00000456800, ENST00000464392, ENST00000475627, ENST00000477541, ENST00000480785, ENST00000869592, ENST00000869593, ENST00000869594, ENST00000869595, ENST00000869596, ENST00000869597, ENST00000869598, ENST00000869599, ENST00000869600, ENST00000915602, ENST00000915603, ENST00000915604, ENST00000970369
RefSeq mRNA: 1 — MANE Select: NM_006120
NM_006120
CCDS: CCDS4761
Canonical transcript exons
ENST00000374843 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003543419 | 32950519 | 32950803 |
| ENSE00003563247 | 32949611 | 32949889 |
| ENSE00003669949 | 32952949 | 32953097 |
| ENSE00003785137 | 32949271 | 32949399 |
| ENSE00003849242 | 32948618 | 32948868 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 99.22.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.3393 / max 1013.7619, expressed in 1319 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 73047 | 36.7251 | 1280 |
| 73046 | 0.4366 | 152 |
| 73048 | 0.1775 | 65 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 99.22 | gold quality |
| monocyte | CL:0000576 | 99.13 | gold quality |
| leukocyte | CL:0000738 | 99.11 | gold quality |
| lymph node | UBERON:0000029 | 99.07 | gold quality |
| spleen | UBERON:0002106 | 98.88 | gold quality |
| vermiform appendix | UBERON:0001154 | 98.73 | gold quality |
| gall bladder | UBERON:0002110 | 98.60 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 98.04 | gold quality |
| right lung | UBERON:0002167 | 97.90 | gold quality |
| duodenum | UBERON:0002114 | 97.88 | gold quality |
| rectum | UBERON:0001052 | 97.38 | gold quality |
| subcutaneous adipose tissue | UBERON:0002190 | 97.30 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 96.89 | gold quality |
| adipose tissue | UBERON:0001013 | 96.86 | gold quality |
| tonsil | UBERON:0002372 | 96.81 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.79 | gold quality |
| right coronary artery | UBERON:0001625 | 96.75 | gold quality |
| tibial nerve | UBERON:0001323 | 96.58 | gold quality |
| small intestine | UBERON:0002108 | 96.53 | gold quality |
| fallopian tube | UBERON:0003889 | 96.34 | gold quality |
| omental fat pad | UBERON:0010414 | 96.32 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 96.23 | gold quality |
| thoracic mammary gland | UBERON:0005200 | 96.14 | gold quality |
| endocervix | UBERON:0000458 | 96.11 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.10 | gold quality |
| right uterine tube | UBERON:0001302 | 96.04 | gold quality |
| blood | UBERON:0000178 | 96.00 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 95.85 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 95.57 | gold quality |
| left adrenal gland | UBERON:0001234 | 95.56 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-89232 | yes | 455.09 |
| E-CURD-122 | yes | 92.50 |
| E-MTAB-10287 | yes | 30.82 |
| E-MTAB-9801 | yes | 7.77 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CIITA, RFX5, RFXANK, RFXAP, STAT1
miRNA regulators (miRDB)
24 targeting HLA-DMA, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-3202 | 99.66 | 67.70 | 2737 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-4472 | 99.56 | 66.08 | 1478 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
| HSA-MIR-4292 | 99.16 | 65.57 | 1767 |
| HSA-MIR-6791-5P | 99.16 | 65.92 | 1844 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-4764-5P | 98.88 | 65.53 | 894 |
| HSA-MIR-330-5P | 98.73 | 67.63 | 1788 |
| HSA-MIR-6887-5P | 98.56 | 68.49 | 1295 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
| HSA-MIR-6780A-3P | 98.42 | 67.49 | 1518 |
| HSA-MIR-326 | 98.25 | 66.44 | 1565 |
| HSA-MIR-6757-5P | 98.08 | 65.50 | 724 |
| HSA-MIR-514A-5P | 96.94 | 65.49 | 801 |
| HSA-MIR-6888-5P | 95.89 | 63.78 | 831 |
| HSA-MIR-5186 | 94.63 | 66.76 | 627 |
Literature-anchored findings (GeneRIF, showing 14)
- HLA DMA and DMB show no association with rheumatoid arthritis in US Caucasians. (PMID:11881821)
- The results suggest that HLA-DMA*0104 may represent a novel allele of susceptibility to systemic lupus erythematosus. (PMID:12858445)
- HLA-DMA may play an important role in pathogenesis of type 1 diabetes, and clinical status heterogeneity of type 1 diabetes may be related to genetic mechanism. (PMID:14754527)
- The absence of HLA-DR/DM interactions at the limiting membrane prevents local loading of MHC class II molecules in phagosomes (PMID:15723810)
- glycosylation promotes, but is not essential for, DMalphabeta ER exit; single DMalpha chains cannot fully oxidize without DMbeta, while DMbeta forms disulfide-linked homodimers without DMalpha (PMID:17015729)
- Multiple mechanisms, operating along the biosynthetic pathway of class II molecules, contribute to DM-mediated increases in the abundance of low-CLIP-affinity alleles. (PMID:20408893)
- DMA*01:01 (69.35%) and DMB*01:01 (52.5%) alleles were more frequent in Chinese Hans (PMID:22309257)
- The structure of the HLA-DM-HLA-DR complex shows major rearrangements of the HLA-DR peptide-binding groove. (PMID:23260142)
- study therefore reveals that HLA-DM polymorphic residues have a considerable impact on HLA-DM catalytic activity. (PMID:25505276)
- pH-susceptibility of HLA-DO tunes DO/DM ratios to regulate HLA-DM catalytic activity. (PMID:26610428)
- The ARL15 and HLA-DMA gene polymorphisms are associated with RA risk in Northwestern Han Chinese population. (PMID:29382430)
- Permissive HLA-DPB1 mismatches in HCT depend on immunopeptidome divergence and editing by HLA-DM. (PMID:33025005)
- Expression of NOTCH1, NOTCH4, HLA-DMA and HLA-DRA is synergistically associated with T cell exclusion, immune checkpoint blockade efficacy and recurrence risk in ER-negative breast cancer. (PMID:35543859)
- Prognostic gene HLA-DMA associated with cell cycle and immune infiltrates in LUAD. (PMID:37972401)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | H2-DMa | ENSMUSG00000037649 |
| rattus_norvegicus | RT1-DMa | ENSRNOG00000066773 |
Paralogs (13): B2M (ENSG00000166710), HLA-DQB1 (ENSG00000179344), HLA-DRB1 (ENSG00000196126), HLA-DQA1 (ENSG00000196735), HLA-DRB5 (ENSG00000198502), HLA-DOA (ENSG00000204252), HLA-DRA (ENSG00000204287), HLA-DPB1 (ENSG00000223865), HLA-DPA1 (ENSG00000231389), HLA-DQB2 (ENSG00000232629), HLA-DQA2 (ENSG00000237541), HLA-DOB (ENSG00000241106), HLA-DMB (ENSG00000242574)
Protein
Protein identifiers
HLA class II histocompatibility antigen, DM alpha chain — P28067 (reviewed: P28067)
Alternative names: MHC class II antigen DMA, Really interesting new gene 6 protein
All UniProt accessions (7): A2AAT8, P28067, F6S093, H0Y732, Q31604, Q5SP00, Q6ICR9
UniProt curated annotations — full annotation on UniProt →
Function. Plays a critical role in catalyzing the release of class II-associated invariant chain peptide (CLIP) from newly synthesized MHC class II molecules and freeing the peptide binding site for acquisition of antigenic peptides. In B-cells, the interaction between HLA-DM and MHC class II molecules is regulated by HLA-DO.
Subunit / interactions. Heterodimer of an alpha chain (DMA) and a beta chain (DMB). Interacts with MHCII; this interaction mediates rapid selection of high-affinity peptides in a pH-dependent manner, with an optimum at pH 5.5.
Subcellular location. Late endosome membrane. Lysosome membrane.
Polymorphism. The following alleles of DMA are known: DMA01:01, DMA01:02, DMA01:03 (DMA3.2) and DMA01:04 (DMA3.4). The sequence shown is that of DMA*01:01.
Similarity. Belongs to the MHC class II family.
RefSeq proteins (1): NP_006111* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001003 | MHC_II_a_N | Domain |
| IPR003006 | Ig/MHC_CS | Conserved_site |
| IPR003597 | Ig_C1-set | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR011162 | MHC_I/II-like_Ag-recog | Homologous_superfamily |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR014745 | MHC_II_a/b_N | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050160 | MHC/Immunoglobulin | Family |
Pfam: PF00993, PF07654
UniProt features (44 total): strand 12, sequence variant 7, mutagenesis site 5, turn 5, helix 3, region of interest 3, disulfide bond 2, topological domain 2, signal peptide 1, chain 1, transmembrane region 1, domain 1, glycosylation site 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2BC4 | X-RAY DIFFRACTION | 2.27 |
| 1HDM | X-RAY DIFFRACTION | 2.5 |
| 4FQX | X-RAY DIFFRACTION | 2.6 |
| 4GBX | X-RAY DIFFRACTION | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P28067-F1 | 88.44 | 0.76 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (2): 50–105, 147–202
Glycosylation sites (1): 41
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 124 | decreases the interaction with mhcii and peptide exchange; when associated with a-220. |
| 126 | decreases the interaction with mhcii and peptide exchange. |
| 151 | abrogates the interaction with mhcii and peptide exchange. |
| 199 | decreases the interaction with mhcii and peptide exchange. |
| 220 | decreases the interaction with mhcii and peptide exchange; when associated with a-124. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2132295 | MHC class II antigen presentation |
MSigDB gene sets: 401 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_OR_POLYSACCHARIDE_ANTIGEN_VIA_MHC_CLASS_II, KOBAYASHI_EGFR_SIGNALING_24HR_UP, MCLACHLAN_DENTAL_CARIES_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, GOCC_VACUOLAR_MEMBRANE, MODULE_45, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_DN, GOCC_CELL_SURFACE, MORI_IMMATURE_B_LYMPHOCYTE_UP, GAURNIER_PSMD4_TARGETS, GOBP_ANTIGEN_PROCESSING_AND_PRESENTATION_OF_PEPTIDE_ANTIGEN, GNF2_LYN, WIELAND_UP_BY_HBV_INFECTION, GRAHAM_CML_QUIESCENT_VS_NORMAL_QUIESCENT_DN
GO Biological Process (9): adaptive immune response (GO:0002250), peptide antigen assembly with MHC class II protein complex (GO:0002503), antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886), positive regulation of immune response (GO:0050778), positive regulation of T cell activation (GO:0050870), immune system process (GO:0002376), antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504), immune response (GO:0006955), antigen processing and presentation (GO:0019882)
GO Molecular Function (3): MHC class II protein complex binding (GO:0023026), peptide antigen binding (GO:0042605), protein binding (GO:0005515)
GO Cellular Component (8): lysosomal membrane (GO:0005765), cell surface (GO:0009986), membrane (GO:0016020), late endosome membrane (GO:0031902), MHC class II protein complex (GO:0042613), lysosome (GO:0005764), endosome (GO:0005768), endosome membrane (GO:0010008)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| immune response | 2 |
| antigen processing and presentation of peptide antigen via MHC class II | 2 |
| immune system process | 2 |
| cellular anatomical structure | 2 |
| MHC class II protein complex assembly | 1 |
| peptide antigen assembly with MHC protein complex | 1 |
| antigen processing and presentation of exogenous peptide antigen | 1 |
| positive regulation of immune system process | 1 |
| positive regulation of response to stimulus | 1 |
| regulation of immune response | 1 |
| T cell activation | 1 |
| regulation of T cell activation | 1 |
| positive regulation of lymphocyte activation | 1 |
| positive regulation of leukocyte cell-cell adhesion | 1 |
| biological_process | 1 |
| antigen processing and presentation | 1 |
| response to stimulus | 1 |
| MHC protein complex binding | 1 |
| antigen binding | 1 |
| peptide binding | 1 |
| binding | 1 |
| lysosome | 1 |
| lytic vacuole membrane | 1 |
| late endosome | 1 |
| endosome membrane | 1 |
| MHC protein complex | 1 |
| lytic vacuole | 1 |
| endomembrane system | 1 |
| cytoplasmic vesicle | 1 |
| endosome | 1 |
| cytoplasmic vesicle membrane | 1 |
| bounding membrane of organelle | 1 |
Protein interactions and networks
STRING
1606 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HLA-DMA | HLA-DMB | P28068 | 995 |
| HLA-DMA | BRD2 | P25440 | 860 |
| HLA-DMA | BRD3 | Q15059 | 845 |
| HLA-DMA | HLA-DOB | P13765 | 835 |
| HLA-DMA | HLA-DRB1 | P01911 | 761 |
| HLA-DMA | HLA-B | P01889 | 755 |
| HLA-DMA | TOR1A | O14656 | 733 |
| HLA-DMA | HLA-C | P04222 | 732 |
| HLA-DMA | CD74 | P04233 | 720 |
| HLA-DMA | CTSS | P25774 | 719 |
| HLA-DMA | HLA-DQB2 | P05538 | 700 |
| HLA-DMA | HLA-DPB1 | P01916 | 677 |
| HLA-DMA | HLA-DQB1 | P01917 | 675 |
| HLA-DMA | HLA-F | P30511 | 607 |
| HLA-DMA | HFE | Q30201 | 607 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HLA-DMB | HLA-DMA | psi-mi:“MI:0407”(direct interaction) | 0.820 |
| HLA-DMB | HLA-DMA | psi-mi:“MI:0915”(physical association) | 0.820 |
| HLA-DMA | HLA-DRA | psi-mi:“MI:0914”(association) | 0.620 |
| HLA-DMA | HLA-DOA | psi-mi:“MI:0915”(physical association) | 0.590 |
| HLA-DMA | HLA-DOA | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| HLA-DMA | HLA-DOA | psi-mi:“MI:0914”(association) | 0.590 |
| HLA-DMA | HLA-DRB1 | psi-mi:“MI:0915”(physical association) | 0.590 |
| HLA-DRB1 | HLA-DRA | psi-mi:“MI:0915”(physical association) | 0.520 |
| HLA-DRB1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| MEP1B | HLA-DMA | psi-mi:“MI:0915”(physical association) | 0.370 |
| HLA-DMA | HLA-DRB1 | psi-mi:“MI:0914”(association) | 0.350 |
ESM2 similar proteins: P01864, P01865, P01867, P01869, P01893, P01895, P01896, P01897, P01898, P01899, P01903, P01904, P01906, P01909, P01910, P03987, P04223, P04224, P04227, P04228, P04439, P06339, P06340, P13753, P14426, P14428, P14434, P14435, P14436, P14437, P14438, P14439, P15980, P15981, P16209, P16211, P20036, P20037, P20755, P23150
Diamond homologs: O42197, O77517, O77518, O77519, O77520, O77521, O77523, O77524, O77525, O77526, O77528, O77529, O77530, O77531, O77532, O77533, O77534, O77535, O77536, O77537, P01844, P01885, P01886, P01887, P01888, P01906, P01910, P04227, P04228, P04440, P07151, P14434, P14435, P14436, P14437, P14438, P15981, P16213, P19341, P20036
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| “RFX complex” | “up-regulates quantity by expression” | HLA-DMA | “transcriptional regulation” |
| CIITA | “up-regulates quantity by expression” | HLA-DMA | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
14 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1104 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:32948865:CAGT:C | acceptor_gain | 1.0000 |
| 6:32948869:C:CC | acceptor_gain | 1.0000 |
| 6:32949270:CCA:C | donor_gain | 1.0000 |
| 6:32949286:T:TA | donor_gain | 1.0000 |
| 6:32949400:C:CC | acceptor_gain | 1.0000 |
| 6:32950502:C:A | donor_gain | 1.0000 |
| 6:32950614:C:CA | donor_gain | 1.0000 |
| 6:32968785:A:T | donor_gain | 1.0000 |
| 6:32948783:T:TA | donor_gain | 0.9900 |
| 6:32948812:T:TA | donor_gain | 0.9900 |
| 6:32948864:TCAGT:T | acceptor_gain | 0.9900 |
| 6:32948865:CAGTC:C | acceptor_gain | 0.9900 |
| 6:32948866:AGT:A | acceptor_gain | 0.9900 |
| 6:32948867:GT:G | acceptor_gain | 0.9900 |
| 6:32949269:ACCAC:A | donor_gain | 0.9900 |
| 6:32949270:CCACC:C | donor_gain | 0.9900 |
| 6:32949398:TA:T | acceptor_gain | 0.9900 |
| 6:32949399:AC:A | acceptor_loss | 0.9900 |
| 6:32949400:CT:C | acceptor_loss | 0.9900 |
| 6:32949401:T:C | acceptor_loss | 0.9900 |
| 6:32950501:C:CA | donor_gain | 0.9900 |
| 6:32950518:CCT:C | donor_gain | 0.9900 |
| 6:32950804:C:CC | acceptor_gain | 0.9900 |
| 6:32952945:TTA:T | donor_loss | 0.9900 |
| 6:32952946:TACC:T | donor_loss | 0.9900 |
| 6:32952947:A:AC | donor_gain | 0.9900 |
| 6:32952947:A:C | donor_loss | 0.9900 |
| 6:32952948:C:A | donor_loss | 0.9900 |
| 6:32952948:C:CC | donor_gain | 0.9900 |
| 6:32968775:G:GT | donor_gain | 0.9900 |
AlphaMissense
1710 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:32949780:C:A | W161C | 0.992 |
| 6:32949780:C:G | W161C | 0.992 |
| 6:32949612:C:A | W217C | 0.991 |
| 6:32949612:C:G | W217C | 0.991 |
| 6:32949822:A:C | C147W | 0.991 |
| 6:32949658:C:G | C202S | 0.989 |
| 6:32949659:A:T | C202S | 0.989 |
| 6:32949823:C:G | C147S | 0.989 |
| 6:32949824:A:G | C147R | 0.989 |
| 6:32949824:A:T | C147S | 0.989 |
| 6:32949657:G:C | C202W | 0.987 |
| 6:32949829:A:G | L145S | 0.986 |
| 6:32950578:C:T | C105Y | 0.985 |
| 6:32949711:G:C | F184L | 0.984 |
| 6:32949711:G:T | F184L | 0.984 |
| 6:32949713:A:G | F184L | 0.984 |
| 6:32949823:C:T | C147Y | 0.984 |
| 6:32949658:C:T | C202Y | 0.983 |
| 6:32949659:A:G | C202R | 0.983 |
| 6:32949712:A:C | F184C | 0.981 |
| 6:32949826:A:T | V146D | 0.981 |
| 6:32949834:G:C | N143K | 0.981 |
| 6:32949834:G:T | N143K | 0.981 |
| 6:32950743:C:G | C50S | 0.981 |
| 6:32950744:A:T | C50S | 0.981 |
| 6:32950577:G:C | C105W | 0.980 |
| 6:32950578:C:G | C105S | 0.979 |
| 6:32950579:A:T | C105S | 0.979 |
| 6:32949782:A:G | W161R | 0.975 |
| 6:32949782:A:T | W161R | 0.975 |
dbSNP variants (sampled 300 via entrez): RS1000984337 (6:32954725 C>A), RS1001306239 (6:32948507 C>G,T), RS1001472439 (6:32948504 T>G), RS1001503678 (6:32948921 T>G), RS1001864641 (6:32954053 C>T), RS1002787034 (6:32954620 T>G), RS1003147733 (6:32950332 C>T), RS1003903910 (6:32949888 C>A,T), RS1004337869 (6:32950247 G>C,T), RS1004563565 (6:32948450 A>T), RS1004936707 (6:32948438 T>C), RS1005018342 (6:32948174 T>C), RS1005669902 (6:32952058 A>G), RS1006950433 (6:32953201 A>G), RS1007338351 (6:32953438 TA>T)
Disease associations
OMIM: gene MIM:142855 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004521_170 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_255 | Autism spectrum disorder or schizophrenia | 6.000000e-11 |
| GCST005541_25 | Sarcoidosis (Lofgren’s syndrome vs non-Lofgren’s syndrome) | 6.000000e-23 |
| GCST008916_27 | Asthma | 5.000000e-31 |
| GCST008916_90 | Asthma | 4.000000e-15 |
| GCST90000025_485 | Appendicular lean mass | 5.000000e-23 |
| GCST90002389_318 | Lymphocyte percentage of white cells | 6.000000e-15 |
| GCST90002399_293 | Neutrophil percentage of white cells | 1.000000e-12 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004980 | appendicular lean mass |
| EFO:0007993 | lymphocyte percentage of leukocytes |
| EFO:0007990 | neutrophil percentage of leukocytes |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
56 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 5 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Panobinostat | affects cotreatment, affects expression, increases expression | 3 |
| Tobacco Smoke Pollution | decreases expression | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Arsenic | decreases response to substance, decreases expression | 2 |
| Cisplatin | affects expression, affects cotreatment, increases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases methylation, decreases methylation | 1 |
| terbufos | increases methylation | 1 |
| sodium bichromate | decreases expression | 1 |
| sulforaphane | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | affects splicing, decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| mercuric bromide | decreases expression, affects cotreatment | 1 |
| tamibarotene | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| valdecoxib | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression, decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 hybrid cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_9W16 | T2.DR4/DM | Hybrid cell line | |
| CVCL_9W18 | T2.DR3/DM | Hybrid cell line |
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): sarcoidosis