TINAGL1
gene geneOn this page
Also known as P3ECSLLIECG3ARG1TINAGRP
Summary
TINAGL1 (tubulointerstitial nephritis antigen like 1, HGNC:19168) is a protein-coding gene on chromosome 1p35.2, encoding Tubulointerstitial nephritis antigen-like (Q9GZM7). May be implicated in the adrenocortical zonation and in mechanisms for repressing the CYP11B1 gene expression in adrenocortical cells.
The protein encoded by this gene is similar in sequence to tubulointerstitial nephritis antigen, a secreted glycoprotein that is recognized by antibodies in some types of immune-related tubulointerstitial nephritis. Three transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 64129 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 56 total
- MANE Select transcript:
NM_022164
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19168 |
| Approved symbol | TINAGL1 |
| Name | tubulointerstitial nephritis antigen like 1 |
| Location | 1p35.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | P3ECSL, LIECG3, ARG1, TINAGRP |
| Ensembl gene | ENSG00000142910 |
| Ensembl biotype | protein_coding |
| OMIM | 616064 |
| Entrez | 64129 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 9 protein_coding, 8 protein_coding_CDS_not_defined
ENST00000271064, ENST00000457433, ENST00000461030, ENST00000463112, ENST00000466998, ENST00000468635, ENST00000478398, ENST00000480586, ENST00000481165, ENST00000498429, ENST00000537531, ENST00000861775, ENST00000861776, ENST00000861777, ENST00000861778, ENST00000861779, ENST00000964677
RefSeq mRNA: 3 — MANE Select: NM_022164
NM_001204414, NM_001204415, NM_022164
CCDS: CCDS343, CCDS55586, CCDS72745
Canonical transcript exons
ENST00000271064 — 12 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001303285 | 31577134 | 31577458 |
| ENSE00001930233 | 31576515 | 31576595 |
| ENSE00003462189 | 31586839 | 31587686 |
| ENSE00003488018 | 31583149 | 31583241 |
| ENSE00003500839 | 31585753 | 31585876 |
| ENSE00003500934 | 31586710 | 31586755 |
| ENSE00003602960 | 31584886 | 31585036 |
| ENSE00003624313 | 31584678 | 31584801 |
| ENSE00003626228 | 31585151 | 31585340 |
| ENSE00003653039 | 31585440 | 31585485 |
| ENSE00003690425 | 31579204 | 31579267 |
| ENSE00003694138 | 31583461 | 31583575 |
Expression profiles
Bgee: expression breadth ubiquitous, 201 present calls, max score 99.34.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 35.7644 / max 1040.1499, expressed in 944 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 1922 | 26.9413 | 899 |
| 1923 | 8.1694 | 731 |
| 1921 | 0.3224 | 142 |
| 1926 | 0.1067 | 51 |
| 1925 | 0.1048 | 50 |
| 1928 | 0.0645 | 21 |
| 1927 | 0.0434 | 15 |
| 1924 | 0.0119 | 4 |
Top tissues by expression
264 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| metanephros cortex | UBERON:0010533 | 99.34 | gold quality |
| right coronary artery | UBERON:0001625 | 99.30 | gold quality |
| ascending aorta | UBERON:0001496 | 99.17 | gold quality |
| thoracic aorta | UBERON:0001515 | 99.16 | gold quality |
| popliteal artery | UBERON:0002250 | 99.04 | gold quality |
| tibial artery | UBERON:0007610 | 99.04 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 99.01 | gold quality |
| apex of heart | UBERON:0002098 | 99.00 | gold quality |
| aorta | UBERON:0000947 | 98.99 | gold quality |
| left coronary artery | UBERON:0001626 | 98.84 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 98.67 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 98.32 | gold quality |
| omental fat pad | UBERON:0010414 | 98.27 | gold quality |
| left uterine tube | UBERON:0001303 | 98.21 | gold quality |
| body of uterus | UBERON:0009853 | 98.20 | gold quality |
| peritoneum | UBERON:0002358 | 98.19 | gold quality |
| endocervix | UBERON:0000458 | 97.81 | gold quality |
| coronary artery | UBERON:0001621 | 97.63 | gold quality |
| heart left ventricle | UBERON:0002084 | 97.61 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 97.58 | gold quality |
| right lung | UBERON:0002167 | 97.56 | gold quality |
| lower esophagus | UBERON:0013473 | 97.54 | gold quality |
| right atrium auricular region | UBERON:0006631 | 97.51 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 97.50 | gold quality |
| mucosa of stomach | UBERON:0001199 | 97.43 | gold quality |
| ectocervix | UBERON:0012249 | 97.37 | gold quality |
| gall bladder | UBERON:0002110 | 97.32 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 97.23 | gold quality |
| transverse colon | UBERON:0001157 | 97.22 | gold quality |
| thyroid gland | UBERON:0002046 | 97.21 | gold quality |
Single-cell (SCXA)
Detected in 23 experiment(s), a significant marker in 22.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 1303.46 |
| E-MTAB-5061 | yes | 1251.73 |
| E-GEOD-134144 | yes | 921.49 |
| E-CURD-126 | yes | 773.46 |
| E-HCAD-36 | yes | 662.22 |
| E-MTAB-6108 | yes | 617.04 |
| E-HCAD-10 | yes | 567.41 |
| E-MTAB-7249 | yes | 211.77 |
| E-GEOD-83139 | yes | 207.80 |
| E-ENAD-27 | yes | 165.30 |
| E-MTAB-10287 | yes | 66.86 |
| E-MTAB-10553 | yes | 49.78 |
| E-HCAD-11 | yes | 43.24 |
| E-GEOD-135922 | yes | 38.30 |
| E-HCAD-1 | yes | 36.22 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
28 targeting TINAGL1, 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-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-6780A-5P | 99.88 | 66.69 | 2776 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-1296-3P | 99.72 | 64.04 | 636 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-6507-5P | 99.36 | 70.46 | 2524 |
| HSA-MIR-10522-5P | 99.26 | 68.50 | 2087 |
| HSA-MIR-6799-5P | 99.14 | 65.72 | 2093 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-7977 | 98.65 | 66.18 | 2590 |
| HSA-MIR-4664-5P | 98.17 | 65.07 | 1020 |
| HSA-MIR-4421 | 97.99 | 64.89 | 701 |
| HSA-MIR-5699-3P | 97.81 | 65.00 | 861 |
| HSA-MIR-1285-3P | 97.72 | 67.02 | 1932 |
| HSA-MIR-1233-3P | 96.81 | 65.44 | 573 |
Literature-anchored findings (GeneRIF, showing 6)
- Double immunofluorescence analysis showed that CTLA-2alpha was co-localized with cathepsin L, cathepsin C, and TINAGL1 in placenta. (PMID:25514977)
- TINAGL1 and B3GALNT1 are possible candidates for drug compounds that inhibit their gene expression (PMID:25521548)
- Results show that lower TINAGL1 expression correlates with advanced triple-negative breast cancer (TNBC) tumor stages, reduced disease-free survival (DFS) and distant metastasis-free survival. Consistent with higher risk of metastatic relapse in breast tumors with lower expression of TINAGL1, highly metastatic human breast cancer cell lines express lower TINAGL1 levels than weakly metastatic cells. (PMID:30612941)
- Tubulointerstitial nephritis antigen-like 1 is a novel matricellular protein that promotes gastric bacterial colonization and gastritis in the setting of Helicobacter pylori infection. (PMID:37336990)
- Tubulointerstitial nephritis antigen-like 1 from cancer-associated fibroblasts contribute to the progression of diffuse-type gastric cancers through the interaction with integrin beta1. (PMID:38355577)
- YTHDF1 facilitates esophageal cancer progression via augmenting m6A-dependent TINAGL1 translation. (PMID:39098703)
Cross-species orthologs
16 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Tinagl1 | ENSMUSG00000028776 |
| rattus_norvegicus | Tinagl1 | ENSRNOG00000013179 |
| caenorhabditis_elegans | WBGENE00000781 | |
| caenorhabditis_elegans | WBGENE00000782 | |
| caenorhabditis_elegans | WBGENE00000784 | |
| caenorhabditis_elegans | WBGENE00000785 | |
| caenorhabditis_elegans | cpz-1 | WBGENE00000788 |
| caenorhabditis_elegans | WBGENE00013072 | |
| caenorhabditis_elegans | WBGENE00013076 | |
| caenorhabditis_elegans | WBGENE00013764 | |
| caenorhabditis_elegans | WBGENE00016300 | |
| caenorhabditis_elegans | WBGENE00016306 | |
| caenorhabditis_elegans | WBGENE00019314 | |
| caenorhabditis_elegans | WBGENE00019986 | |
| caenorhabditis_elegans | WBGENE00022189 | |
| caenorhabditis_elegans | WBGENE00044760 |
Paralogs (12): CTSZ (ENSG00000101160), CTSH (ENSG00000103811), CTSC (ENSG00000109861), CTSL (ENSG00000135047), CTSV (ENSG00000136943), TINAG (ENSG00000137251), CTSK (ENSG00000143387), CTSS (ENSG00000163131), CTSB (ENSG00000164733), CTSW (ENSG00000172543), CTSF (ENSG00000174080), CTSO (ENSG00000256043)
Protein
Protein identifiers
Tubulointerstitial nephritis antigen-like — Q9GZM7 (reviewed: Q9GZM7)
Alternative names: Glucocorticoid-inducible protein 5, Oxidized LDL-responsive gene 2 protein, Tubulointerstitial nephritis antigen-related protein
All UniProt accessions (2): Q9GZM7, F6SDV2
UniProt curated annotations — full annotation on UniProt →
Function. May be implicated in the adrenocortical zonation and in mechanisms for repressing the CYP11B1 gene expression in adrenocortical cells. This is a non catalytic peptidase C1 family protein.
Subcellular location. Secreted.
Tissue specificity. Highly expressed in aorta, heart, placenta, kidney and a colorectal adenocarcinoma cell line. Moderately expressed in skeletal muscle, pancreas, lung, lymph nodes, adrenal gland, bone marrow and thyroid. Weakly expressed in colon, small intestine, ovary, spleen, testis and prostate. Predominantly found in vascular smooth muscle cells, but also in cardiac and skeletal muscle cells as well as kidney.
Post-translational modifications. Glycosylated.
Similarity. Belongs to the peptidase C1 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9GZM7-1 | 1 | yes |
| Q9GZM7-2 | 2 | |
| Q9GZM7-3 | 3 |
RefSeq proteins (3): NP_001191343, NP_001191344, NP_071447* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000668 | Peptidase_C1A_C | Domain |
| IPR001212 | Somatomedin_B_dom | Domain |
| IPR013128 | Peptidase_C1A | Family |
| IPR025660 | Pept_his_AS | Active_site |
| IPR038765 | Papain-like_cys_pep_sf | Homologous_superfamily |
Pfam: PF00112
UniProt features (19 total): splice variant 6, disulfide bond 5, sequence conflict 2, glycosylation site 2, signal peptide 1, chain 1, sequence variant 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9GZM7-F1 | 86.54 | 0.69 |
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 (5): 54–73, 71–85, 71–73, 77–84, 85–92
Glycosylation sites (2): 78, 161
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 510 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, GOBP_REGULATION_OF_CELL_ACTIVATION, SHEPARD_BMYB_MORPHOLINO_UP, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, AP1_01, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_NEGATIVE_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, MODULE_255, GOBP_RESPONSE_TO_PEPTIDE, GOCC_SECRETORY_GRANULE, GOBP_NEGATIVE_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_NEGATIVE_REGULATION_OF_PRODUCTION_OF_MOLECULAR_MEDIATOR_OF_IMMUNE_RESPONSE
GO Biological Process (2): endosomal transport (GO:0016197), proteolysis (GO:0006508)
GO Molecular Function (4): extracellular matrix structural constituent (GO:0005201), laminin binding (GO:0043236), protein binding (GO:0005515), cysteine-type peptidase activity (GO:0008234)
GO Cellular Component (6): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), lysosome (GO:0005764), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| vesicle-mediated transport | 1 |
| intracellular transport | 1 |
| protein metabolic process | 1 |
| structural molecule activity | 1 |
| extracellular matrix | 1 |
| protein binding | 1 |
| extracellular matrix binding | 1 |
| binding | 1 |
| peptidase activity | 1 |
| lytic vacuole | 1 |
| external encapsulating structure | 1 |
| extracellular vesicle | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
658 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TINAGL1 | SEC23A | Q15436 | 595 |
| TINAGL1 | GADD45GIP1 | Q8TAE8 | 500 |
| TINAGL1 | TMEM184A | Q6ZMB5 | 467 |
| TINAGL1 | EGFR | P00533 | 461 |
| TINAGL1 | KAT5 | Q92993 | 449 |
| TINAGL1 | PGLYRP1 | O75594 | 439 |
| TINAGL1 | ZEB2 | O60315 | 412 |
| TINAGL1 | SACK1B | Q5T0W9 | 406 |
| TINAGL1 | CFH | P08603 | 404 |
| TINAGL1 | TINAG | Q9UJW2 | 399 |
| TINAGL1 | PEF1 | Q9UBV8 | 385 |
| TINAGL1 | C3 | P01024 | 374 |
| TINAGL1 | IGFBP4 | P22692 | 372 |
| TINAGL1 | TMEM61 | Q8N0U2 | 367 |
| TINAGL1 | ZEB1 | P37275 | 358 |
IntAct
86 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TINAGL1 | TRIP13 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRIP13 | TINAGL1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| TULP3 | GGPS1 | psi-mi:“MI:0914”(association) | 0.640 |
| KRTAP12-2 | TINAGL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TINAGL1 | KRTAP12-2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PITX2 | TINAGL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PROP1 | TINAGL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAG4 | TINAGL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| TULP3 | HSPG2 | psi-mi:“MI:0914”(association) | 0.530 |
| TINAGL1 | L2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TINAGL1 | EP300 | psi-mi:“MI:0915”(physical association) | 0.370 |
| LMO4 | TINAGL1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SMAD9 | TINAGL1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MDFI | TINAGL1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TINAGL1 | PRMT5 | psi-mi:“MI:0914”(association) | 0.350 |
| CTSK | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| PI15 | psi-mi:“MI:0914”(association) | 0.350 | |
| PRG2 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| FIGLA | TCF3 | psi-mi:“MI:0914”(association) | 0.350 |
| AKIRIN2 | HSPG2 | psi-mi:“MI:0914”(association) | 0.350 |
| SULF2 | IGKV2-29 | psi-mi:“MI:0914”(association) | 0.350 |
| CDH5 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| CDH5 | MYO1C | psi-mi:“MI:2364”(proximity) | 0.270 |
| TINAGL1 | TRIP13 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (50): TINAGL1 (Two-hybrid), TINAGL1 (Two-hybrid), KRTAP4-2 (Two-hybrid), KRTAP12-2 (Two-hybrid), KRTAP10-3 (Two-hybrid), NOTCH2NL (Two-hybrid), PRMT5 (Affinity Capture-MS), GNB2 (Affinity Capture-MS), CD59 (Affinity Capture-MS), RIOK1 (Affinity Capture-MS), HSPG2 (Affinity Capture-MS), LOXL2 (Affinity Capture-MS), TINAGL1 (Two-hybrid), HSPG2 (Affinity Capture-MS), RIOK1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0D3QS98, A0A0D3QS99, A2A5I3, O19010, O19011, O42596, P01137, P04202, P04629, P07200, P09533, P16562, P17246, P18341, P35739, P50414, P54108, P54831, P57110, Q01974, Q38HS2, Q3KPV7, Q3UFB7, Q505J3, Q5R7Y0, Q5T4F7, Q60477, Q658N2, Q6UWX4, Q7T141, Q7TSQ1, Q80XH4, Q8BG58, Q91009, Q99JR5, Q9CXM0, Q9D2G9, Q9EQT5, Q9GZM7, Q9H3Y0
Diamond homologs: A0A0F7G352, A0E358, A1E295, F4HVZ1, G5EGP8, O46427, O60911, O97578, P00787, P05167, P05993, P07688, P07711, P07858, P09668, P0DO76, P10605, P19092, P25774, P25778, P25792, P25793, P25802, P25807, P32954, P36400, P43157, P43233, P43507, P43508, P43509, P43510, P49935, P53634, P81494, P83205, P90850, P92131, P92132, P92133
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 42 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2651 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:31583148:GC:G | acceptor_gain | 1.0000 |
| 1:31583240:GG:G | donor_gain | 1.0000 |
| 1:31583241:GG:G | donor_gain | 1.0000 |
| 1:31583576:G:GG | donor_gain | 1.0000 |
| 1:31584676:A:AG | acceptor_gain | 1.0000 |
| 1:31584677:G:GA | acceptor_gain | 1.0000 |
| 1:31584677:GAC:G | acceptor_gain | 1.0000 |
| 1:31584677:GACA:G | acceptor_gain | 1.0000 |
| 1:31584798:GCAG:G | donor_gain | 1.0000 |
| 1:31584799:CAGGT:C | donor_loss | 1.0000 |
| 1:31584800:AGGTA:A | donor_loss | 1.0000 |
| 1:31584801:GGT:G | donor_loss | 1.0000 |
| 1:31584802:G:GG | donor_gain | 1.0000 |
| 1:31584803:T:A | donor_loss | 1.0000 |
| 1:31584880:CACCA:C | acceptor_loss | 1.0000 |
| 1:31584881:ACCAG:A | acceptor_loss | 1.0000 |
| 1:31584882:CCAGC:C | acceptor_loss | 1.0000 |
| 1:31584883:CAGC:C | acceptor_loss | 1.0000 |
| 1:31584884:A:AG | acceptor_gain | 1.0000 |
| 1:31584885:G:GG | acceptor_gain | 1.0000 |
| 1:31584885:G:GT | acceptor_loss | 1.0000 |
| 1:31584885:GCT:G | acceptor_gain | 1.0000 |
| 1:31584885:GCTGT:G | acceptor_gain | 1.0000 |
| 1:31585033:GAGG:G | donor_gain | 1.0000 |
| 1:31585035:GG:G | donor_gain | 1.0000 |
| 1:31585036:GG:G | donor_gain | 1.0000 |
| 1:31585137:T:A | acceptor_gain | 1.0000 |
| 1:31585140:T:A | acceptor_gain | 1.0000 |
| 1:31585149:A:AG | acceptor_gain | 1.0000 |
| 1:31585149:AG:A | acceptor_gain | 1.0000 |
AlphaMissense
3058 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:31584901:G:C | R241P | 0.999 |
| 1:31584785:G:C | W230C | 0.998 |
| 1:31584785:G:T | W230C | 0.998 |
| 1:31584963:T:A | C262S | 0.998 |
| 1:31584964:G:A | C262Y | 0.998 |
| 1:31584964:G:C | C262S | 0.998 |
| 1:31586856:G:C | W427C | 0.998 |
| 1:31586856:G:T | W427C | 0.998 |
| 1:31583464:G:C | W157C | 0.997 |
| 1:31583464:G:T | W157C | 0.997 |
| 1:31584783:T:A | W230R | 0.997 |
| 1:31584783:T:C | W230R | 0.997 |
| 1:31584964:G:T | C262F | 0.997 |
| 1:31585272:T:A | C327S | 0.997 |
| 1:31585273:G:C | C327S | 0.997 |
| 1:31585864:T:A | V402D | 0.997 |
| 1:31586850:C:A | N425K | 0.997 |
| 1:31586850:C:G | N425K | 0.997 |
| 1:31586854:T:A | W427R | 0.997 |
| 1:31586854:T:C | W427R | 0.997 |
| 1:31577377:T:A | C77S | 0.996 |
| 1:31577378:G:C | C77S | 0.996 |
| 1:31579257:T:A | C122S | 0.996 |
| 1:31579258:G:C | C122S | 0.996 |
| 1:31583192:T:A | C140S | 0.996 |
| 1:31583193:G:C | C140S | 0.996 |
| 1:31583194:C:G | C140W | 0.996 |
| 1:31583462:T:A | W157R | 0.996 |
| 1:31583462:T:C | W157R | 0.996 |
| 1:31584771:T:A | C226S | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000060719 (1:31580423 G>A), RS1000906918 (1:31586206 G>A), RS1001187412 (1:31587085 G>A,T), RS1001241447 (1:31587310 C>A,G,T), RS1001454617 (1:31575652 C>G), RS1001555494 (1:31574860 T>C), RS1001570509 (1:31575377 C>T), RS1002067119 (1:31579762 G>A,T), RS1002072675 (1:31583197 G>A,C), RS1002506012 (1:31576013 C>T), RS1002968619 (1:31576368 T>A,C,G), RS1003064583 (1:31580247 C>G,T), RS1003460879 (1:31578018 C>T), RS1003577284 (1:31577722 C>T), RS1003684988 (1:31584260 C>T)
Disease associations
OMIM: gene MIM:616064 | 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 |
|---|---|---|
| GCST005316_437 | Intelligence (MTAG) | 2.000000e-09 |
| GCST005316_440 | Intelligence (MTAG) | 9.000000e-09 |
| GCST005951_36 | Body mass index | 9.000000e-10 |
| GCST006186_9 | Systolic blood pressure x smoking status (current vs non-current) interaction (1df test) | 2.000000e-07 |
| GCST006193_8 | Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 8.000000e-06 |
| GCST006195_95 | Systolic blood pressure x smoking status (current vs non-current) interaction (2df test) | 8.000000e-10 |
| GCST006269_693 | General cognitive ability | 1.000000e-09 |
| GCST006585_2686 | Blood protein levels | 2.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004337 | intelligence |
| EFO:0004340 | body mass index |
| EFO:0006335 | systolic blood pressure |
| EFO:0006527 | smoking status measurement |
| EFO:0006336 | diastolic blood pressure |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation | 3 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| Particulate Matter | increases abundance, increases expression, affects cotreatment, decreases expression | 3 |
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 2 |
| Tobacco Smoke Pollution | affects expression, increases expression | 2 |
| Valproic Acid | increases expression, increases methylation | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| methyleugenol | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| beta-lapachone | decreases expression, increases expression | 1 |
| mono-(2-ethylhexyl)phthalate | decreases expression | 1 |
| cupric chloride | decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| corosolic acid | increases expression | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| MT19c compound | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Calcitriol | increases expression | 1 |
| Estradiol | decreases expression | 1 |
| Gasoline | affects cotreatment, increases abundance, increases expression | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Nicotine | increases expression | 1 |
| Polycyclic Aromatic Hydrocarbons | increases abundance, increases expression, affects cotreatment | 1 |
| Smoke | increases expression | 1 |
| Toluene | decreases expression | 1 |
| Tretinoin | increases 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.