TRA2A
gene geneOn this page
Also known as htra-2-alphaAWMS1
Summary
TRA2A (transformer 2 alpha homolog, HGNC:16645) is a protein-coding gene on chromosome 7p15.3, encoding Transformer-2 protein homolog alpha (Q13595). Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing.
This gene is a member of the transformer 2 homolog family and encodes a protein with several RRM (RNA recognition motif) domains. This phosphorylated nuclear protein binds to specific RNA sequences and plays a role in the regulation of pre-mRNA splicing. Alternatively spliced transcript variants have been found for this gene.
Source: NCBI Gene 29896 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 50 total
- MANE Select transcript:
NM_013293
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16645 |
| Approved symbol | TRA2A |
| Name | transformer 2 alpha homolog |
| Location | 7p15.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | htra-2-alpha, AWMS1 |
| Ensembl gene | ENSG00000164548 |
| Ensembl biotype | protein_coding |
| OMIM | 602718 |
| Entrez | 29896 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 9 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000297071, ENST00000392502, ENST00000448549, ENST00000474586, ENST00000475970, ENST00000482395, ENST00000486934, ENST00000490942, ENST00000494255, ENST00000497730, ENST00000538367, ENST00000621813, ENST00000870822, ENST00000870823, ENST00000870824, ENST00000923620, ENST00000923621, ENST00000923622
RefSeq mRNA: 7 — MANE Select: NM_013293
NM_001282757, NM_001282758, NM_001282759, NM_001362759, NM_001362760, NM_001362761, NM_013293
CCDS: CCDS5383, CCDS64609, CCDS75569
Canonical transcript exons
ENST00000297071 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001085421 | 23531789 | 23531981 |
| ENSE00001085423 | 23504780 | 23505569 |
| ENSE00001159675 | 23506138 | 23506266 |
| ENSE00001159681 | 23507420 | 23507535 |
| ENSE00003538377 | 23521707 | 23521840 |
| ENSE00003555723 | 23516363 | 23516528 |
| ENSE00003603856 | 23512894 | 23513082 |
| ENSE00003677104 | 23505746 | 23505813 |
Expression profiles
Bgee: expression breadth ubiquitous, 294 present calls, max score 98.53.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 61.9894 / max 862.1093, expressed in 1820 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 83127 | 48.0654 | 1817 |
| 83122 | 7.4557 | 1657 |
| 83128 | 5.7102 | 1711 |
| 83123 | 0.7582 | 373 |
Top tissues by expression
300 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right uterine tube | UBERON:0001302 | 98.53 | gold quality |
| buccal mucosa cell | CL:0002336 | 98.22 | gold quality |
| right ovary | UBERON:0002118 | 98.18 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.13 | gold quality |
| left ovary | UBERON:0002119 | 98.12 | gold quality |
| ventricular zone | UBERON:0003053 | 98.01 | gold quality |
| endocervix | UBERON:0000458 | 97.93 | gold quality |
| sural nerve | UBERON:0015488 | 97.81 | gold quality |
| body of uterus | UBERON:0009853 | 97.76 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.62 | gold quality |
| vagina | UBERON:0000996 | 97.56 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 97.56 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.52 | gold quality |
| cortical plate | UBERON:0005343 | 97.52 | gold quality |
| left uterine tube | UBERON:0001303 | 97.39 | gold quality |
| ectocervix | UBERON:0012249 | 97.38 | gold quality |
| granulocyte | CL:0000094 | 97.32 | gold quality |
| tibial nerve | UBERON:0001323 | 97.27 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 97.25 | gold quality |
| minor salivary gland | UBERON:0001830 | 97.25 | gold quality |
| monocyte | CL:0000576 | 97.18 | gold quality |
| adenohypophysis | UBERON:0002196 | 97.16 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 97.15 | gold quality |
| cerebellar cortex | UBERON:0002129 | 97.13 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 97.00 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.99 | gold quality |
| mononuclear cell | CL:0000842 | 96.97 | gold quality |
| spleen | UBERON:0002106 | 96.94 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 96.91 | gold quality |
| body of pancreas | UBERON:0001150 | 96.90 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7051 | yes | 1262.94 |
| E-GEOD-76312 | no | 3804.33 |
| E-GEOD-93593 | no | 6.84 |
| E-MTAB-9801 | no | 5.19 |
| E-MTAB-9543 | no | 2.41 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
66 targeting TRA2A, 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-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-374A-5P | 99.90 | 71.34 | 2923 |
| HSA-MIR-374B-5P | 99.90 | 69.98 | 2734 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
Literature-anchored findings (GeneRIF, showing 8)
- Expression of tumor-promoting Cyr61 is regulated by hTRA2-beta1 and acidosis. (PMID:21447598)
- findings show the inclusion of both HIV-1 exon 3 and vpr mRNA processing is promoted by an exonic splicing enhancer (ESEvpr) localized between exonic splicing silencer ESSV and 5’ss D3; the ESEvpr sequence was found to be bound by members of the Tra2 protein family (PMID:23255807)
- Overexpression of either Tra2alpha or Tra2beta results in a marked reduction in HIV-1 Gag/ Env expression. (PMID:25970345)
- our findings suggest that paclitaxel targets the TRA2A-RSRC2 splicing pathway, and deregulated TRA2A and RSRC2 expression may confer paclitaxel resistance. In addition, our study demonstrates that expression of TRA2A in conjunction with RSRC2 may provide valuable molecular biomarker evidence for triple-negative breast cancer (TNBC)clinical treatment decisions and patient outcome (PMID:28416606)
- Overexpression of TRA2A in glioma SHG44 cell lines promoted the tumor cells proliferation, migration, invasion and epithelial mesenchymal transition (EMT), while, knockdown of TRA2A showed the opposite effect. (PMID:30367895)
- we knocked down three regulators respectively and found two of them (TRA2A and CAPRIN1) selectively promoted the methylations of the m6A sites co-localized with their binding targets on RNAs through physical interactions with the m6A writers. Knockdown of TRA2A increased the stabilities of the RNAs with TRA2A bound near the m6A sites and decreased the viability of cells (PMID:31912146)
- TRA2A-induced upregulation of LINC00662 regulates blood-brain barrier permeability by affecting ELK4 mRNA stability in Alzheimer’s microenvironment. (PMID:32372707)
- Transformer 2 alpha homolog is a downstream gene of hypoxia-inducible factor 1 subunit alpha and is involved in the progression of pancreatic cancer. (PMID:35635094)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tra2a | ENSDARG00000007863 |
| mus_musculus | Tra2a | ENSMUSG00000029817 |
| rattus_norvegicus | Tra2a | ENSRNOG00000009156 |
| drosophila_melanogaster | tra2 | FBGN0003742 |
| caenorhabditis_elegans | WBGENE00004705 |
Paralogs (1): TRA2B (ENSG00000136527)
Protein
Protein identifiers
Transformer-2 protein homolog alpha — Q13595 (reviewed: Q13595)
Alternative names: Transformer-2 protein homolog A
All UniProt accessions (4): A0A8J9ASM4, Q13595, F8WEH2, Q549U1
UniProt curated annotations — full annotation on UniProt →
Function. Sequence-specific RNA-binding protein which participates in the control of pre-mRNA splicing.
Subunit / interactions. Binds to A3 enhancer proteins SRp75, SRp55, SRp40 and SRp30. Interacts with ILDR1 (via C-terminus) and ILDR2.
Subcellular location. Nucleus.
Post-translational modifications. Phosphorylated in the RS domains.
Similarity. Belongs to the splicing factor SR family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q13595-1 | Long | yes |
| Q13595-2 | Short | |
| Q13595-3 | 3 | |
| Q13595-4 | 4 |
RefSeq proteins (7): NP_001269686, NP_001269687, NP_001269688, NP_001349688, NP_001349689, NP_001349690, NP_037425* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000504 | RRM_dom | Domain |
| IPR012677 | Nucleotide-bd_a/b_plait_sf | Homologous_superfamily |
| IPR035979 | RBD_domain_sf | Homologous_superfamily |
| IPR050441 | RBM | Family |
Pfam: PF00076
UniProt features (31 total): modified residue 14, compositionally biased region 5, splice variant 4, region of interest 4, initiator methionine 1, chain 1, domain 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13595-F1 | 58.36 | 0.21 |
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 (15): 2, 2, 14, 24, 82, 84, 86, 88, 96, 98, 202, 204, 232, 236, 198
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 189 (showing top):
FLECHNER_PBL_KIDNEY_TRANSPLANT_REJECTED_VS_OK_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, YY1_Q6, ONKEN_UVEAL_MELANOMA_UP, FOSTER_TOLERANT_MACROPHAGE_UP, DOANE_RESPONSE_TO_ANDROGEN_DN, GOBP_RNA_SPLICING, SCHLOSSER_SERUM_RESPONSE_DN, NKX22_01, GATA2_01, MORF_PML, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_UP, MORF_PDPK1, MORF_IKBKG, KAYO_AGING_MUSCLE_UP
GO Biological Process (4): mRNA splicing, via spliceosome (GO:0000398), positive regulation of mRNA splicing, via spliceosome (GO:0048026), mRNA processing (GO:0006397), RNA splicing (GO:0008380)
GO Molecular Function (3): RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), spliceosomal complex (GO:0005681), nucleolus (GO:0005730)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| binding | 2 |
| nuclear lumen | 2 |
| RNA splicing, via transesterification reactions with bulged adenosine as nucleophile | 1 |
| mRNA processing | 1 |
| mRNA splicing, via spliceosome | 1 |
| positive regulation of RNA splicing | 1 |
| regulation of mRNA splicing, via spliceosome | 1 |
| positive regulation of mRNA processing | 1 |
| mRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| ribonucleoprotein complex | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
2964 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TRA2A | SRSF1 | Q07955 | 850 |
| TRA2A | SRSF7 | Q16629 | 701 |
| TRA2A | SRSF10 | O75494 | 699 |
| TRA2A | SRSF3 | P23152 | 646 |
| TRA2A | HNRNPK | P61978 | 641 |
| TRA2A | HNRNPM | P52272 | 637 |
| TRA2A | SRSF9 | Q13242 | 613 |
| TRA2A | SRSF4 | Q08170 | 610 |
| TRA2A | ILDR2 | Q71H61 | 581 |
| TRA2A | SRSF6 | Q13247 | 572 |
| TRA2A | ILDR1 | Q86SU0 | 571 |
| TRA2A | SRSF11 | Q05519 | 565 |
| TRA2A | RBM15 | Q96T37 | 543 |
| TRA2A | RSRC2 | Q7L4I2 | 541 |
| TRA2A | PUM2 | Q8TB72 | 522 |
IntAct
130 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CDK8 | MED19 | psi-mi:“MI:0914”(association) | 0.850 |
| TRA2A | RNPS1 | psi-mi:“MI:0915”(physical association) | 0.740 |
| SRPK2 | TRA2A | psi-mi:“MI:0217”(phosphorylation reaction) | 0.690 |
| TRA2A | YWHAG | psi-mi:“MI:0915”(physical association) | 0.670 |
| SNRNP70 | GEMIN2 | psi-mi:“MI:0914”(association) | 0.640 |
| XPOT | TRA2A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRA2A | MAGOHB | psi-mi:“MI:0915”(physical association) | 0.560 |
| YTHDC1 | TRA2A | psi-mi:“MI:0915”(physical association) | 0.550 |
| SNIP1 | CASC3 | psi-mi:“MI:0914”(association) | 0.530 |
| GSPT2 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRNP70 | GTPBP1 | psi-mi:“MI:0914”(association) | 0.530 |
| TRA2A | U2SURP | psi-mi:“MI:0915”(physical association) | 0.520 |
| CPSF6 | DDX39A | psi-mi:“MI:0914”(association) | 0.480 |
| U2AF2 | U2SURP | psi-mi:“MI:0914”(association) | 0.480 |
| TRA2A | CDK6 | psi-mi:“MI:0217”(phosphorylation reaction) | 0.440 |
| FUS | DDX3X | psi-mi:“MI:0914”(association) | 0.430 |
| LBP | TRA2A | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRA2A | NXF1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRA2A | PPP1CC | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRA2A | SMAP | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRA2A | CDK2AP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRA2A | CRABP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NUDT21 | TRA2A | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRA2A | SELENBP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TRA2A | TNNT1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DHX15 | TRA2A | psi-mi:“MI:0915”(physical association) | 0.370 |
| FEN1 | CHPF2 | psi-mi:“MI:0914”(association) | 0.350 |
| CDK2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.350 |
| DDX41 | DDX39A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (539): TRA2A (Affinity Capture-MS), TRA2A (Affinity Capture-MS), TRA2A (Affinity Capture-MS), TRA2A (Affinity Capture-MS), TRA2A (Affinity Capture-MS), TRA2A (Affinity Capture-MS), TRA2A (Affinity Capture-MS), LARP7 (Affinity Capture-MS), SRRM1 (Affinity Capture-MS), MRPS9 (Affinity Capture-MS), MRPS26 (Affinity Capture-MS), THRAP3 (Affinity Capture-MS), LUC7L2 (Affinity Capture-MS), LUC7L (Affinity Capture-MS), ZNF768 (Affinity Capture-MS)
ESM2 similar proteins: A2RVS6, F4JHI7, O22315, O75494, O81126, O81127, P30352, P84103, P84104, P92964, P92965, P92966, Q01130, Q06A98, Q07955, Q09511, Q0VCY7, Q10021, Q13242, Q13595, Q16629, Q18409, Q23120, Q23121, Q3MHR5, Q3SZR8, Q3T106, Q3YLA6, Q5PPI1, Q5R1W5, Q5R7H2, Q62093, Q69KL9, Q6DII2, Q6K4N0, Q6K9C3, Q6NYA0, Q6PDM2, Q6PDU1, Q6PFR5
Diamond homologs: A1C646, A1DGS2, A2A5N3, A2Q848, A2R7Z2, A3GGU2, A4QUF0, A4RHN3, A5DNX9, A5E1Z4, A6SGN8, A6ZZ25, A7EWN6, A7SKE9, A7TFW4, A8NS61, A8WLV5, B0VZS1, B0XS28, B3MSP2, B3MYX2, B3NYY7, B3P935, B4G3E2, B4GUY6, B4I9X1, B4IIC7, B4J4G8, B4JXU2, B4K7S5, B4L710, B4LVR8, B4MA85, B4N1L0, B4NFY1, B4NTY9, B4PP90, B4Q0Y7, B4QS37, C8V330
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 156 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 |
|---|---|---|---|
| Transport of Mature Transcript to Cytoplasm | 7 | 24.0× | 7e-07 |
| mRNA 3’-end processing | 12 | 21.3× | 2e-11 |
| RNA Polymerase II Transcription Termination | 10 | 19.8× | 4e-09 |
| mRNA Splicing | 19 | 18.8× | 3e-17 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | 12 | 16.5× | 5e-10 |
| mRNA Polyadenylation | 20 | 15.8× | 1e-16 |
| Processing of Capped Intron-Containing Pre-mRNA | 21 | 15.5× | 3e-17 |
| mRNA Splicing - Major Pathway | 27 | 13.3× | 2e-20 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of mRNA splicing, via spliceosome | 7 | 40.0× | 9e-08 |
| mRNA splice site recognition | 5 | 29.9× | 6e-05 |
| spliceosomal complex assembly | 5 | 22.5× | 2e-04 |
| nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 6 | 21.0× | 4e-05 |
| regulation of alternative mRNA splicing, via spliceosome | 11 | 20.1× | 3e-09 |
| mRNA export from nucleus | 8 | 17.6× | 3e-06 |
| mRNA splicing, via spliceosome | 21 | 14.3× | 1e-15 |
| mitophagy | 6 | 14.2× | 3e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
50 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1091 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:23505742:ATAC:A | donor_loss | 1.0000 |
| 7:23505743:TACT:T | donor_loss | 1.0000 |
| 7:23505744:A:AC | donor_gain | 1.0000 |
| 7:23505744:ACT:A | donor_loss | 1.0000 |
| 7:23505745:C:CC | donor_gain | 1.0000 |
| 7:23505811:CTT:C | acceptor_gain | 1.0000 |
| 7:23505814:C:CC | acceptor_gain | 1.0000 |
| 7:23506134:TTA:T | donor_loss | 1.0000 |
| 7:23506135:TAC:T | donor_loss | 1.0000 |
| 7:23506136:A:AT | donor_loss | 1.0000 |
| 7:23506137:C:CA | donor_loss | 1.0000 |
| 7:23506262:CACTA:C | acceptor_gain | 1.0000 |
| 7:23506264:CTA:C | acceptor_gain | 1.0000 |
| 7:23506265:TA:T | acceptor_gain | 1.0000 |
| 7:23506267:C:CC | acceptor_gain | 1.0000 |
| 7:23506270:C:CT | acceptor_gain | 1.0000 |
| 7:23506277:A:AC | acceptor_gain | 1.0000 |
| 7:23507409:TGA:T | donor_gain | 1.0000 |
| 7:23507418:A:AC | donor_gain | 1.0000 |
| 7:23507419:C:CG | donor_gain | 1.0000 |
| 7:23507419:CT:C | donor_gain | 1.0000 |
| 7:23507419:CTGA:C | donor_gain | 1.0000 |
| 7:23507419:CTGAG:C | donor_gain | 1.0000 |
| 7:23507443:G:A | donor_gain | 1.0000 |
| 7:23512895:T:TA | donor_gain | 1.0000 |
| 7:23513079:TTGC:T | acceptor_gain | 1.0000 |
| 7:23513081:GC:G | acceptor_gain | 1.0000 |
| 7:23513082:CC:C | acceptor_gain | 1.0000 |
| 7:23513082:CCTAT:C | acceptor_loss | 1.0000 |
| 7:23513083:C:CC | acceptor_gain | 1.0000 |
AlphaMissense
1765 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:23507432:C:T | G210D | 1.000 |
| 7:23507433:C:A | G210C | 1.000 |
| 7:23507433:C:G | G210R | 1.000 |
| 7:23507435:A:G | M209T | 1.000 |
| 7:23507438:T:C | Y208C | 1.000 |
| 7:23507439:A:C | Y208D | 1.000 |
| 7:23507439:A:G | Y208H | 1.000 |
| 7:23507439:A:T | Y208N | 1.000 |
| 7:23507444:C:A | G206V | 1.000 |
| 7:23507444:C:T | G206D | 1.000 |
| 7:23507445:C:A | G206C | 1.000 |
| 7:23507445:C:G | G206R | 1.000 |
| 7:23507447:G:T | P205Q | 1.000 |
| 7:23507448:G:A | P205S | 1.000 |
| 7:23507458:G:C | H201Q | 1.000 |
| 7:23507458:G:T | H201Q | 1.000 |
| 7:23507459:T:C | H201R | 1.000 |
| 7:23507460:G:C | H201D | 1.000 |
| 7:23507460:G:T | H201N | 1.000 |
| 7:23507471:G:A | T197I | 1.000 |
| 7:23507474:A:T | I196K | 1.000 |
| 7:23507477:G:A | S195F | 1.000 |
| 7:23507477:G:T | S195Y | 1.000 |
| 7:23507483:T:A | D193V | 1.000 |
| 7:23507484:C:G | D193H | 1.000 |
| 7:23507486:A:T | V192E | 1.000 |
| 7:23507489:C:G | R191P | 1.000 |
| 7:23507490:G:C | R191G | 1.000 |
| 7:23507492:A:C | I190S | 1.000 |
| 7:23507492:A:G | I190T | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000039298 (7:23519949 T>C), RS1000208761 (7:23531812 C>T), RS1000308887 (7:23504299 GTC>G), RS1000326273 (7:23526332 G>A), RS1000495848 (7:23520096 A>G), RS1000509386 (7:23506492 C>G), RS1000693804 (7:23511111 C>T), RS1000826022 (7:23524881 AG>A), RS1000882055 (7:23514037 G>A), RS1001144175 (7:23510307 A>T), RS1001147068 (7:23511264 G>A), RS1001196329 (7:23510519 G>A), RS1001259861 (7:23505064 C>A,G), RS1001555418 (7:23526498 T>C), RS1001610065 (7:23532217 C>T)
Disease associations
OMIM: gene MIM:602718 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST012227_110 | Hip circumference adjusted for BMI | 2.000000e-09 |
| GCST012227_111 | Hip circumference adjusted for BMI | 2.000000e-09 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008039 | BMI-adjusted hip circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
64 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 5 |
| bisphenol A | decreases expression | 2 |
| Arsenic | decreases expression, affects cotreatment, affects splicing, increases abundance | 2 |
| Cisplatin | affects cotreatment, decreases expression, increases expression | 2 |
| Selenium | decreases expression, increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | affects splicing | 1 |
| FR900359 | affects phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| graphene oxide | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| testosterone enanthate | affects expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| testosterone undecanoate | affects cotreatment, decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| zinc chloride | decreases expression | 1 |
| sodium arsenite | increases abundance, decreases expression, affects cotreatment, affects splicing | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| 4-phenylbutyric acid | decreases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TT52 | HAP1 TRA2A (-) 1 | Cancer cell line | Male |
| CVCL_XU67 | HAP1 TRA2A (-) 2 | Cancer cell line | Male |
| CVCL_XU68 | HAP1 TRA2A (-) 3 | Cancer cell line | Male |
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.