HMG20A
gene geneOn this page
Also known as HMGX1FLJ10739HMGXB1
Summary
HMG20A (high mobility group 20A, HGNC:5001) is a protein-coding gene on chromosome 15q24.3, encoding High mobility group protein 20A (Q9NP66). Plays a role in neuronal differentiation as chromatin-associated protein.
Enables identical protein binding activity. Predicted to be involved in regulation of gene expression. Predicted to act upstream of or within negative regulation of neuron differentiation; negative regulation of protein sumoylation; and negative regulation of transcription by RNA polymerase II. Predicted to be active in nucleus.
Source: NCBI Gene 10363 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 68 total
- MANE Select transcript:
NM_001304504
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:5001 |
| Approved symbol | HMG20A |
| Name | high mobility group 20A |
| Location | 15q24.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HMGX1, FLJ10739, HMGXB1 |
| Ensembl gene | ENSG00000140382 |
| Ensembl biotype | protein_coding |
| OMIM | 605534 |
| Entrez | 10363 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 24 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay
ENST00000336216, ENST00000381714, ENST00000558176, ENST00000558288, ENST00000558651, ENST00000558845, ENST00000559035, ENST00000559099, ENST00000559728, ENST00000560498, ENST00000560867, ENST00000560986, ENST00000859564, ENST00000859565, ENST00000859566, ENST00000859567, ENST00000859568, ENST00000859569, ENST00000859570, ENST00000859571, ENST00000859572, ENST00000938333, ENST00000938334, ENST00000938335, ENST00000938336, ENST00000938337, ENST00000938338, ENST00000951417
RefSeq mRNA: 3 — MANE Select: NM_001304504
NM_001304504, NM_001304505, NM_018200
CCDS: CCDS10295
Canonical transcript exons
ENST00000336216 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001207498 | 77482970 | 77485603 |
| ENSE00001519878 | 77420888 | 77421004 |
| ENSE00001677526 | 77467095 | 77467307 |
| ENSE00001683723 | 77478295 | 77478510 |
| ENSE00001715323 | 77477555 | 77477630 |
| ENSE00001734338 | 77471783 | 77471814 |
| ENSE00001759613 | 77470910 | 77471042 |
| ENSE00003462611 | 77458404 | 77458496 |
| ENSE00003529790 | 77479179 | 77479321 |
| ENSE00003645628 | 77464240 | 77464387 |
Expression profiles
Bgee: expression breadth ubiquitous, 280 present calls, max score 93.82.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.1997 / max 416.2548, expressed in 1803 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 147863 | 11.9471 | 1784 |
| 147861 | 4.1874 | 1591 |
| 147865 | 0.8140 | 490 |
| 207598 | 0.5079 | 262 |
| 147862 | 0.4474 | 160 |
| 147864 | 0.2959 | 113 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| colonic epithelium | UBERON:0000397 | 93.82 | gold quality |
| oocyte | CL:0000023 | 93.71 | gold quality |
| secondary oocyte | CL:0000655 | 93.34 | gold quality |
| cortical plate | UBERON:0005343 | 92.11 | gold quality |
| embryo | UBERON:0000922 | 92.05 | gold quality |
| ganglionic eminence | UBERON:0004023 | 92.03 | gold quality |
| adrenal tissue | UBERON:0018303 | 91.81 | gold quality |
| tibia | UBERON:0000979 | 90.41 | gold quality |
| prefrontal cortex | UBERON:0000451 | 89.89 | gold quality |
| vastus lateralis | UBERON:0001379 | 89.55 | gold quality |
| tonsil | UBERON:0002372 | 89.33 | gold quality |
| rectum | UBERON:0001052 | 89.32 | gold quality |
| lymph node | UBERON:0000029 | 89.29 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 89.23 | gold quality |
| ventricular zone | UBERON:0003053 | 89.17 | gold quality |
| quadriceps femoris | UBERON:0001377 | 89.14 | gold quality |
| muscle of leg | UBERON:0001383 | 89.12 | gold quality |
| gastrocnemius | UBERON:0001388 | 89.03 | gold quality |
| spleen | UBERON:0002106 | 88.99 | gold quality |
| muscle organ | UBERON:0001630 | 88.93 | gold quality |
| sural nerve | UBERON:0015488 | 88.90 | gold quality |
| vermiform appendix | UBERON:0001154 | 88.55 | gold quality |
| ovary | UBERON:0000992 | 88.36 | gold quality |
| cardiac atrium | UBERON:0002081 | 88.29 | gold quality |
| right atrium auricular region | UBERON:0006631 | 88.29 | gold quality |
| monocyte | CL:0000576 | 88.28 | gold quality |
| gall bladder | UBERON:0002110 | 88.26 | gold quality |
| corpus callosum | UBERON:0002336 | 88.26 | gold quality |
| caecum | UBERON:0001153 | 88.21 | gold quality |
| leukocyte | CL:0000738 | 88.15 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.47 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
151 targeting HMG20A, 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-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-545-3P | 99.95 | 70.74 | 2783 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
Literature-anchored findings (GeneRIF, showing 11)
- beta-dystrobrevin interacts with the HMG20 proteins iBRAF and BRAF35 (PMID:20530487)
- HMG20A/iBRAF forms heterodimers with HMG20B/BRAF35. Heterodimerization impairs HMG20B/BRAF35 sumoylation and interaction with the LSD1-CoREST complex. (PMID:22570500)
- we report associations with the LAMA1 and HMG20A (not previously associated at genome-wide significance in Europeans) gene regions with type 2 diabetes risk (PMID:22693455)
- ectopic expression of BRAP2 inhibits nuclear localization of HMG20A and NuMA1, and prevents nuclear envelope accumulation of SYNE2. (PMID:23707952)
- HMG20A together with LSD1 are required for SNAI1-dependent repression of epithelial genes. (PMID:25639869)
- HMG20A is a key regulator of mature beta cell function in type 2 diabetes mellitus. (PMID:29449530)
- rs7178572 at HMG 20A , previously associated with GDM in South Indian and European women, was replicated in North Indian women. (PMID:30919529)
- Influence of IGF2BP2, HMG20A, and HNF1B genetic polymorphisms on the susceptibility to Type 2 diabetes mellitus in Chinese Han population. (PMID:32329795)
- Identification and Biochemical Characterization of High Mobility Group Protein 20A as a Novel Ca(2+)/S100A6 Target. (PMID:33808200)
- The high mobility group protein HMG20A cooperates with the histone reader PHF14 to modulate TGFbeta and Hippo pathways. (PMID:36124662)
- HMG20A was identified as a key enhancer driver associated with DNA damage repair in oral squamous cell carcinomas. (PMID:36335317)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | hmg20a | ENSDARG00000031198 |
| mus_musculus | Hmg20a | ENSMUSG00000032329 |
| rattus_norvegicus | Hmg20a | ENSRNOG00000016905 |
| caenorhabditis_elegans | hmg-3 | WBGENE00001973 |
| caenorhabditis_elegans | WBGENE00001974 |
Paralogs (20): HMGB3 (ENSG00000029993), HMG20B (ENSG00000064961), SP100 (ENSG00000067066), SMARCE1 (ENSG00000073584), SP140 (ENSG00000079263), TOX4 (ENSG00000092203), HMGXB4 (ENSG00000100281), TOX3 (ENSG00000103460), TFAM (ENSG00000108064), UBTF (ENSG00000108312), HMGB1P1 (ENSG00000124097), TOX2 (ENSG00000124191), SP110 (ENSG00000135899), SSRP1 (ENSG00000149136), HMGB2 (ENSG00000164104), HMGB4 (ENSG00000176256), SP140L (ENSG00000185404), HMGB1 (ENSG00000189403), TOX (ENSG00000198846), UBTFL1 (ENSG00000255009)
Protein
Protein identifiers
High mobility group protein 20A — Q9NP66 (reviewed: Q9NP66)
Alternative names: HMG box-containing protein 20A, HMG domain-containing protein 1, HMG domain-containing protein HMGX1
All UniProt accessions (8): Q9NP66, H0YK55, H0YKL0, H0YKM5, H0YM80, H0YMG2, H0YMS9, H0YNS8
UniProt curated annotations — full annotation on UniProt →
Function. Plays a role in neuronal differentiation as chromatin-associated protein. Acts as inhibitor of HMG20B. Overcomes the repressive effects of the neuronal silencer REST and induces the activation of neuronal-specific genes. Involved in the recruitment of the histone methyltransferase KMT2A/MLL1 and consequent increased methylation of histone H3 lysine 4.
Subunit / interactions. Interacts with DTNB.
Subcellular location. Nucleus.
Tissue specificity. Ubiquitous.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NP66-1 | 1 | yes |
| Q9NP66-2 | 2 |
RefSeq proteins (3): NP_001291433, NP_001291434, NP_060670 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009071 | HMG_box_dom | Domain |
| IPR036910 | HMG_box_dom_sf | Homologous_superfamily |
| IPR051965 | ChromReg_NeuronalGeneExpr | Family |
Pfam: PF00505
UniProt features (15 total): compositionally biased region 6, splice variant 2, region of interest 2, chain 1, DNA-binding region 1, modified residue 1, sequence conflict 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NP66-F1 | 74.87 | 0.40 |
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 (1): 105
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 263 (showing top):
GOBP_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_REGULATION_OF_PROTEIN_SUMOYLATION, GCM_ZNF198, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_NEUROGENESIS, GOBP_PEPTIDYL_LYSINE_MODIFICATION, GOBP_REGULATION_OF_NEURON_DIFFERENTIATION, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM6, GOBP_PROTEIN_SUMOYLATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, DODD_NASOPHARYNGEAL_CARCINOMA_UP, BENPORATH_NOS_TARGETS, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, NRF2_01
GO Biological Process (6): negative regulation of transcription by RNA polymerase II (GO:0000122), chromatin organization (GO:0006325), regulation of DNA-templated transcription (GO:0006355), regulation of gene expression (GO:0010468), negative regulation of protein sumoylation (GO:0033234), negative regulation of neuron differentiation (GO:0045665)
GO Molecular Function (3): DNA binding (GO:0003677), identical protein binding (GO:0042802), 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 |
| cellular component organization | 1 |
| DNA-templated transcription | 1 |
| regulation of gene expression | 1 |
| regulation of RNA biosynthetic process | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| protein sumoylation | 1 |
| regulation of protein sumoylation | 1 |
| negative regulation of protein modification by small protein conjugation or removal | 1 |
| neuron differentiation | 1 |
| negative regulation of cell differentiation | 1 |
| regulation of neuron differentiation | 1 |
| nucleic acid binding | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1988 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HMG20A | GSE1 | Q14687 | 734 |
| HMG20A | PHF21B | Q96EK2 | 700 |
| HMG20A | CTBP1 | Q13363 | 695 |
| HMG20A | RCOR3 | Q9P2K3 | 634 |
| HMG20A | AP3S2 | P59780 | 624 |
| HMG20A | RCOR1 | Q9UKL0 | 617 |
| HMG20A | PHF21A | Q96BD5 | 598 |
| HMG20A | HSPA1A | P08107 | 596 |
| HMG20A | GRB14 | Q14449 | 590 |
| HMG20A | HDAC1 | Q13547 | 545 |
| HMG20A | HDAC2 | Q92769 | 532 |
| HMG20A | RREB1 | Q92766 | 503 |
| HMG20A | ST6GAL1 | P15907 | 481 |
| HMG20A | CDKAL1 | Q5VV42 | 480 |
| HMG20A | HMG20B | Q9P0W2 | 480 |
IntAct
364 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HMG20A | HMG20A | psi-mi:“MI:0915”(physical association) | 0.800 |
| HMG20A | RPP30 | psi-mi:“MI:0915”(physical association) | 0.780 |
| SYTL4 | HMG20A | psi-mi:“MI:0915”(physical association) | 0.780 |
| HMG20A | SCNM1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| RPP30 | HMG20A | psi-mi:“MI:0915”(physical association) | 0.780 |
| HMG20A | SYTL4 | psi-mi:“MI:0915”(physical association) | 0.780 |
| HMG20A | KDM1A | psi-mi:“MI:0914”(association) | 0.730 |
| HMG20A | DTNB | psi-mi:“MI:0915”(physical association) | 0.670 |
| HMG20A | HPCAL1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| DTNB | HMG20A | psi-mi:“MI:0915”(physical association) | 0.670 |
| HPCAL1 | HMG20A | psi-mi:“MI:0915”(physical association) | 0.670 |
| H2BC1 | PPM1G | psi-mi:“MI:0914”(association) | 0.640 |
| HMG20A | FMNL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ADD1 | HMG20A | psi-mi:“MI:0915”(physical association) | 0.560 |
| HMG20A | PTH2R | psi-mi:“MI:0915”(physical association) | 0.560 |
| KPNA2 | HMG20A | psi-mi:“MI:0915”(physical association) | 0.560 |
| CFAP53 | HMG20A | psi-mi:“MI:0915”(physical association) | 0.560 |
| HMG20A | RSPH9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC136 | HMG20A | psi-mi:“MI:0915”(physical association) | 0.560 |
| HMG20A | ADD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (350): HMG20A (Two-hybrid), HMG20A (Two-hybrid), HMG20A (Two-hybrid), HMG20A (Two-hybrid), HMG20A (Two-hybrid), HMG20A (Two-hybrid), HMG20A (Two-hybrid), RPP30 (Two-hybrid), CCDC136 (Two-hybrid), SCNM1 (Two-hybrid), SYTL4 (Two-hybrid), CFAP53 (Two-hybrid), RSPH9 (Two-hybrid), HMG20A (Affinity Capture-RNA), HMG20A (Affinity Capture-RNA)
ESM2 similar proteins: A0PJP4, A2VDP1, A4FV29, A4II71, E9PSK7, F1RCP1, O00472, O60271, Q0IHE5, Q15545, Q1LZE0, Q28DG8, Q2HJG8, Q2TBQ7, Q3U1T3, Q498D5, Q4R5A5, Q4V8V1, Q58A65, Q5DTM8, Q5EA95, Q5M7T3, Q5PSV4, Q5R6Y9, Q5R7L9, Q5RHQ8, Q5VTR2, Q5ZKF4, Q5ZLL9, Q5ZLS3, Q62739, Q68CZ1, Q6AZT4, Q6DC03, Q6R1L1, Q7ZXA8, Q8BXG3, Q8CG73, Q8IZC4, Q8K0Q5
Diamond homologs: A9RA84, B0CM99, B1MTB0, B2RPK0, O04235, O15347, O49596, O54879, O94529, O94842, P07156, P07746, P09429, P0CO24, P0CO25, P0CR74, P0CR75, P10103, P11632, P11633, P11873, P12682, P17741, P23497, P26583, P26584, P26586, P30681, P40618, P40619, P40621, P40632, P40644, P40673, P52925, P63158, P63159, P87057, P93047, Q04636
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 119 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 |
|---|---|---|---|
| Regulation of PTEN gene transcription | 5 | 12.9× | 7e-03 |
| HDACs deacetylate histones | 7 | 12.2× | 9e-04 |
| Potential therapeutics for SARS | 6 | 9.9× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
68 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 44 |
| Likely benign | 5 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1762 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 15:77420000:TGTTA:T | donor_loss | 1.0000 |
| 15:77420001:GTTAC:G | donor_loss | 1.0000 |
| 15:77420002:TTACC:T | donor_loss | 1.0000 |
| 15:77420003:TACCT:T | donor_loss | 1.0000 |
| 15:77420005:C:CG | donor_loss | 1.0000 |
| 15:77458398:TTTCA:T | acceptor_loss | 1.0000 |
| 15:77458399:TTCA:T | acceptor_loss | 1.0000 |
| 15:77458400:TCA:T | acceptor_loss | 1.0000 |
| 15:77458401:CA:C | acceptor_loss | 1.0000 |
| 15:77458402:A:AG | acceptor_gain | 1.0000 |
| 15:77458402:A:G | acceptor_loss | 1.0000 |
| 15:77458403:G:GA | acceptor_gain | 1.0000 |
| 15:77458403:G:GT | acceptor_loss | 1.0000 |
| 15:77458403:GA:G | acceptor_gain | 1.0000 |
| 15:77458403:GAGA:G | acceptor_gain | 1.0000 |
| 15:77458472:A:T | donor_gain | 1.0000 |
| 15:77458745:T:G | donor_gain | 1.0000 |
| 15:77467093:A:AG | acceptor_gain | 1.0000 |
| 15:77467093:AG:A | acceptor_loss | 1.0000 |
| 15:77467094:G:GA | acceptor_gain | 1.0000 |
| 15:77467094:GC:G | acceptor_gain | 1.0000 |
| 15:77467094:GCA:G | acceptor_gain | 1.0000 |
| 15:77467094:GCAA:G | acceptor_gain | 1.0000 |
| 15:77467094:GCAAC:G | acceptor_gain | 1.0000 |
| 15:77467305:CAG:C | donor_gain | 1.0000 |
| 15:77467308:G:GG | donor_gain | 1.0000 |
| 15:77467308:GTA:G | donor_loss | 1.0000 |
| 15:77467309:T:A | donor_loss | 1.0000 |
| 15:77470906:CTAG:C | acceptor_loss | 1.0000 |
| 15:77470907:TA:T | acceptor_loss | 1.0000 |
AlphaMissense
2306 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 15:77467164:C:A | P103T | 1.000 |
| 15:77467164:C:T | P103S | 1.000 |
| 15:77467165:C:A | P103H | 1.000 |
| 15:77467180:C:T | T108I | 1.000 |
| 15:77467182:G:A | G109R | 1.000 |
| 15:77467182:G:C | G109R | 1.000 |
| 15:77467183:G:A | G109E | 1.000 |
| 15:77467185:T:A | Y110N | 1.000 |
| 15:77467185:T:C | Y110H | 1.000 |
| 15:77467185:T:G | Y110D | 1.000 |
| 15:77467186:A:C | Y110S | 1.000 |
| 15:77467186:A:G | Y110C | 1.000 |
| 15:77467189:T:A | V111D | 1.000 |
| 15:77467192:G:C | R112P | 1.000 |
| 15:77467194:T:A | F113I | 1.000 |
| 15:77467194:T:C | F113L | 1.000 |
| 15:77467194:T:G | F113V | 1.000 |
| 15:77467195:T:C | F113S | 1.000 |
| 15:77467195:T:G | F113C | 1.000 |
| 15:77467196:C:A | F113L | 1.000 |
| 15:77467196:C:G | F113L | 1.000 |
| 15:77467207:G:C | R117P | 1.000 |
| 15:77467210:G:C | R118P | 1.000 |
| 15:77467246:T:G | F130C | 1.000 |
| 15:77467269:G:C | G138R | 1.000 |
| 15:77467270:G:A | G138D | 1.000 |
| 15:77467270:G:T | G138V | 1.000 |
| 15:77467278:T:A | W141R | 1.000 |
| 15:77467278:T:C | W141R | 1.000 |
| 15:77467279:G:C | W141S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000005727 (15:77519033 T>A), RS1000026812 (15:77506543 C>T), RS1000055606 (15:77460788 C>A,G), RS1000063169 (15:77467566 A>C,G), RS1000122216 (15:77513123 C>A), RS1000171534 (15:77501410 C>G), RS1000202956 (15:77495556 TAAAG>T), RS1000246848 (15:77500077 C>A,T), RS1000254414 (15:77435466 T>G), RS1000259073 (15:77479966 A>T), RS1000326204 (15:77493453 C>T), RS1000426801 (15:77460540 G>A), RS1000447225 (15:77441431 T>G), RS1000479911 (15:77441735 G>A), RS1000514711 (15:77507886 G>A)
Disease associations
OMIM: gene MIM:605534 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001033_6 | Type 2 diabetes | 5.000000e-07 |
| GCST001213_4 | Type 2 diabetes | 7.000000e-11 |
| GCST001550_3 | Type 2 diabetes | 1.000000e-08 |
| GCST002352_58 | Type 2 diabetes | 2.000000e-11 |
| GCST004894_123 | Type 2 diabetes | 1.000000e-17 |
| GCST004894_18 | Type 2 diabetes | 2.000000e-08 |
| GCST004894_32 | Type 2 diabetes | 6.000000e-07 |
| GCST005047_51 | Type 2 diabetes | 5.000000e-09 |
| GCST005047_68 | Type 2 diabetes | 2.000000e-06 |
| GCST005830_33 | Hand grip strength | 3.000000e-08 |
| GCST006001_3 | Hemoglobin A1c levels | 1.000000e-08 |
| GCST006867_128 | Type 2 diabetes | 3.000000e-16 |
| GCST007847_56 | Type 2 diabetes | 1.000000e-07 |
| GCST007847_78 | Type 2 diabetes | 1.000000e-11 |
| GCST007923_6 | Medication use (drugs used in diabetes) | 7.000000e-11 |
| GCST009379_208 | Type 2 diabetes | 3.000000e-29 |
| GCST010118_108 | Type 2 diabetes | 2.000000e-26 |
| GCST012490_53 | Femur bone mineral density x serum urate levels interaction | 2.000000e-11 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0006941 | grip strength measurement |
| EFO:0004541 | HbA1c measurement |
| EFO:0009924 | Drugs used in diabetes use measurement |
| EFO:0004531 | urate measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 4 |
| Air Pollutants | decreases expression, increases expression, affects expression, increases abundance | 3 |
| Particulate Matter | decreases expression, increases abundance, increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| sodium arsenite | decreases expression, increases abundance | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Fulvestrant | decreases methylation, affects cotreatment | 1 |
| Acetaminophen | decreases expression | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Atrazine | increases expression | 1 |
| Vehicle Emissions | increases abundance, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Thiram | decreases expression | 1 |
| Zinc | affects cotreatment, increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Lactic Acid | decreases expression | 1 |
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.