VEGFA - Comprehensive Cross-Database Identifier and Functional Mapping Reference
Gene: Vascular Endothelial Growth Factor A
Date Generated: 2026-03-26
Section 1: Gene Identifiers
| Attribute | Value |
|---|
| HGNC ID | HGNC:12680 |
| Approved Symbol | VEGFA |
| Approved Name | vascular endothelial growth factor A |
| Previous Symbols | VEGF |
| Aliases | VEGF-A, VPF |
| Locus Type | gene with protein product |
| Gene Group | VEGF family |
| Ensembl Gene ID | ENSG00000112715 |
| NCBI Entrez Gene ID | 7422 |
| OMIM ID | 192240 |
| Chromosome | 6 |
| Cytogenetic Location | 6p21.1 |
| Genomic Start (GRCh38) | 43,770,184 |
| Genomic End (GRCh38) | 43,786,487 |
| Strand | + (forward) |
| Biotype | protein_coding |
Section 2: Transcript Identifiers
Ensembl Transcripts
Total transcript count: 26
| Transcript ID | Biotype | Start | End | Strand |
|---|
| ENST00000230480 | protein_coding | 43771992 | 43784935 | + |
| ENST00000324450 | protein_coding | 43770707 | 43784562 | + |
| ENST00000372055 | protein_coding | 43770707 | 43784609 | + |
| ENST00000372064 | protein_coding | 43770707 | 43786487 | + |
| ENST00000372067 | protein_coding | 43770213 | 43786487 | + |
| ENST00000372077 | protein_coding | 43770782 | 43786487 | + |
| ENST00000413642 | protein_coding | 43770707 | 43784589 | + |
| ENST00000417285 | protein_coding | 43770707 | 43784562 | + |
| ENST00000425836 | protein_coding | 43770211 | 43786487 | + |
| ENST00000457104 | protein_coding | 43771247 | 43784562 | + |
| ENST00000476772 | retained_intron | 43770184 | 43778764 | + |
| ENST00000480614 | retained_intron | 43773172 | 43786484 | + |
| ENST00000482630 | protein_coding | 43770707 | 43784658 | + |
| ENST00000493786 | retained_intron | 43778172 | 43784564 | + |
| ENST00000497139 | retained_intron | 43777720 | 43786439 | + |
| ENST00000512683 | retained_intron | 43771247 | 43777825 | + |
| ENST00000518538 | retained_intron | 43771153 | 43778937 | + |
| ENST00000518689 | protein_coding | 43771247 | 43784562 | + |
| ENST00000518824 | protein_coding | 43771247 | 43784658 | + |
| ENST00000519767 | protein_coding | 43770793 | 43784562 | + |
| ENST00000520265 | protein_coding | 43774353 | 43784562 | + |
| ENST00000520948 | protein_coding | 43771083 | 43784949 | + |
| ENST00000523125 | protein_coding | 43771247 | 43784562 | + |
| ENST00000523873 | protein_coding | 43771209 | 43784609 | + |
| ENST00000523950 | protein_coding | 43771209 | 43784902 | + |
| ENST00000672860 | protein_coding | 43770211 | 43786487 | + |
Summary: 20 protein_coding, 6 retained_intron
RefSeq Transcripts (Human, Chromosome 6)
MANE Select (Canonical): NM_003376
| RefSeq ID | Type | MANE Select |
|---|
| NM_003376 | mRNA | Yes |
| NM_001025366 | mRNA | No |
| NM_001025367 | mRNA | No |
| NM_001025368 | mRNA | No |
| NM_001025369 | mRNA | No |
| NM_001025370 | mRNA | No |
| NM_001033756 | mRNA | No |
| NM_001171622 | mRNA | No |
| NM_001171623 | mRNA | No |
| NM_001171624 | mRNA | No |
| NM_001171625 | mRNA | No |
| NM_001171626 | mRNA | No |
| NM_001171627 | mRNA | No |
| NM_001171628 | mRNA | No |
| NM_001171629 | mRNA | No |
| NM_001171630 | mRNA | No |
| NM_001204384 | mRNA | No |
| NM_001204385 | mRNA | No |
| NM_001287044 | mRNA | No |
| NM_001317010 | mRNA | No |
CCDS IDs
Total: 17 CCDS entries
| CCDS ID |
|---|
| CCDS4907 |
| CCDS34457 |
| CCDS34458 |
| CCDS47432 |
| CCDS47433 |
| CCDS47434 |
| CCDS47435 |
| CCDS55007 |
| CCDS55008 |
| CCDS55009 |
| CCDS55010 |
| CCDS55011 |
| CCDS55012 |
| CCDS55013 |
| CCDS55014 |
| CCDS55015 |
| CCDS69125 |
Exons for Canonical Transcript (ENST00000372067)
Total exon count: 7
| Exon ID | Start | End | Strand |
|---|
| ENSE00003998309 | 43770213 | 43771312 | + |
| ENSE00003650678 | 43774341 | 43774392 | + |
| ENSE00003595535 | 43777469 | 43777665 | + |
| ENSE00003501088 | 43778460 | 43778536 | + |
| ENSE00003605110 | 43778889 | 43778918 | + |
| ENSE00003650262 | 43781956 | 43782087 | + |
| ENSE00001431654 | 43784541 | 43786487 | + |
Section 3: Protein Identifiers
UniProt Accessions
Total: 14 entries
| UniProt ID | Status | Name |
|---|
| P15692 | Reviewed (Canonical) | Vascular endothelial growth factor A, long form |
| A0A0A0MR43 | Unreviewed | VEGFA isoform |
| A0A0A0MRQ4 | Unreviewed | VEGFA isoform |
| A0A0A0MSH5 | Unreviewed | VEGFA isoform |
| A0A0A0MSH7 | Unreviewed | VEGFA isoform |
| A0A0A0MSI7 | Unreviewed | VEGFA isoform |
| A0A0A0MTB2 | Unreviewed | VEGFA isoform |
| A0A0Y0IMM4 | Unreviewed | VEGFA isoform |
| A0A5F9ZH41 | Unreviewed | VEGFA isoform |
| A2A2V4 | Unreviewed | VEGFA isoform |
| H0YBI8 | Unreviewed | VEGFA isoform |
| H0YBZ0 | Unreviewed | VEGFA isoform |
| H3BLW8 | Unreviewed | VEGFA isoform |
| J3KPA4 | Unreviewed | VEGFA isoform |
Canonical Protein (P15692):
- Mass: 43,597 Da
- Length: 395 amino acids
- Alternative name: Vascular permeability factor (VPF)
RefSeq Protein Accessions (Human)
MANE Select: NP_003367
| RefSeq Protein ID | Gene | MANE Select |
|---|
| NP_003367 | VEGFA | Yes |
| NP_001020537 | VEGFA | No |
| NP_001020538 | VEGFA | No |
| NP_001020539 | VEGFA | No |
| NP_001020540 | VEGFA | No |
| NP_001020541 | VEGFA | No |
| NP_001028928 | VEGFA | No |
| NP_001165093 | VEGFA | No |
| NP_001165094 | VEGFA | No |
| NP_001165095 | VEGFA | No |
| NP_001165096 | VEGFA | No |
| NP_001165097 | VEGFA | No |
| NP_001165098 | VEGFA | No |
| NP_001165099 | VEGFA | No |
| NP_001165100 | VEGFA | No |
| NP_001165101 | VEGFA | No |
| NP_001191313 | VEGFA | No |
| NP_001191314 | VEGFA | No |
| NP_001273973 | VEGFA | No |
| NP_001303939 | VEGFA | No |
Protein Domains and Families
Total: 6 InterPro entries
| InterPro ID | Name | Type |
|---|
| IPR000072 | PDGF/VEGF_dom | Domain |
| IPR023581 | PD_growth_factor_CS | Conserved_site |
| IPR027928 | VEGF_C | Domain |
| IPR029034 | Cystine-knot_cytokine | Homologous_superfamily |
| IPR036841 | VEGF_C_sf | Homologous_superfamily |
| IPR050507 | PDGF/VEGF_growth_factor | Family |
Section 4: Structure Identifiers
Experimental Structures (PDB)
Total PDB structure count: 56
| PDB ID | Method | Resolution | Title |
|---|
| 1BJ1 | X-RAY | 2.4 Å | VEGF in complex with neutralizing antibody |
| 1CZ8 | X-RAY | 2.4 Å | VEGF in complex with affinity matured antibody |
| 1FLT | X-RAY | 1.7 Å | VEGF with FLT-1 receptor domain 2 |
| 1KAT | NMR | - | VEGF with phage-derived peptide antagonist |
| 1KMX | NMR | - | Heparin-binding domain from VEGF |
| 1MJV | X-RAY | 2.1 Å | Disulfide mutant (C51A, C60A) |
| 1MKG | X-RAY | 2.5 Å | Disulfide mutant (C57A, C102A) |
| 1MKK | X-RAY | 1.32 Å | Disulfide mutant (C61A, C104A) |
| 1QTY | X-RAY | 2.7 Å | VEGF with FLT-1 receptor domain 2 |
| 1TZH | X-RAY | 2.6 Å | Fab YADS1 complexed with VEGF |
| 1TZI | X-RAY | 2.8 Å | Fab YADS2 complexed with VEGF |
| 1VGH | NMR | - | Heparin-binding domain |
| 1VPF | X-RAY | 2.5 Å | Human VEGF structure |
| 1VPP | X-RAY | 1.9 Å | VEGF with receptor blocking peptide |
| 2FJG | X-RAY | 2.8 Å | G6 Fab with VEGF |
| 2FJH | X-RAY | 3.1 Å | B20-4 Fab with VEGF |
| 2QR0 | X-RAY | 3.5 Å | VEGF with Fab containing TYR/SER in CDRs |
| 2VGH | NMR | - | Heparin-binding domain (minimized) |
| 2VPF | X-RAY | 1.93 Å | VEGF refined structure |
| 3BDY | X-RAY | 2.6 Å | Dual specific bH1 Fab with VEGF |
| 3P9W | X-RAY | 2.41 Å | Engineered VH domain with VEGF |
| 3QTK | X-RAY | 1.85 Å | Chemically synthesized VEGF-A |
| 3S1B | X-RAY | 2.9 Å | Peptide-based angiogenesis tools |
| 3S1K | X-RAY | 2.55 Å | Peptide-based angiogenesis tools |
| 3V2A | X-RAY | 3.2 Å | VEGFR-2/VEGF-A complex |
| 4DEQ | X-RAY | 2.65 Å | Neuropilin-1/VEGF-A complex |
| 4GLN | X-RAY | 1.6 Å | D-protein antagonist + VEGF-A |
| 4GLS | X-RAY | 1.6 Å | D-protein antagonist + VEGF-A |
| 4KZN | X-RAY | 1.71 Å | VEGF-A receptor binding domain |
| 4QAF | X-RAY | 1.8 Å | Anticalin with VEGF |
| 4WPB | X-RAY | 3.11 Å | VEGF with alpha/beta-VEGF-1 |
| 4ZFF | X-RAY | 2.75 Å | Dual-acting Fab 5A12 with VEGF |
| 5DN2 | X-RAY | 1.95 Å | NRP2 b1 domain with VEGF-A C-terminus |
| 5FV1 | X-RAY | 2.7 Å | VEGF with VK domain antibody |
| 5FV2 | X-RAY | 3.45 Å | VEGF with VH domain antibody |
| 5HHC | X-RAY | 2.1 Å | RFX037 + VEGF-A |
| 5HHD | X-RAY | 2.1 Å | RFX037 + VEGF-A |
| 5O4E | X-RAY | 2.15 Å | VEGF with heterodimeric Fcab |
| 5T89 | X-RAY | 4.0 Å | VEGF-A with VEGFR-1 domains D1-6 |
| 6BFT | X-RAY | 2.55 Å | Bevacizumab Fab mutant with VEGF |
| 6D3O | X-RAY | 3.1 Å | VEGF with alpha/beta-peptide HH4 |
| 6T9D | X-RAY | 2.9 Å | Bispecific DutaFab with VEGF121 |
| 6V7K | X-RAY | 2.5 Å | VEGF with HH4 peptide |
| 6Z13 | X-RAY | 1.8 Å | VEGF with 3C bicyclic peptide |
| 6Z3F | X-RAY | 2.1 Å | VEGF with 2C bicyclic peptide |
| 6ZBR | X-RAY | 1.6 Å | VEGF with 4C bicyclic peptide |
| 6ZCD | X-RAY | 1.8 Å | VEGF with 1C bicyclic peptide |
| 6ZFL | X-RAY | 1.6 Å | High resolution VEGF-A structure |
| 7KEZ | X-RAY | 2.31 Å | bH1 Fab variant with VEGF |
| 7KF0 | X-RAY | 2.32 Å | bH1 Fab variant with VEGF |
| 7KF1 | X-RAY | 2.45 Å | bH1 Fab variant with VEGF |
| 7LL8 | X-RAY | 2.31 Å | D-protein RFX-V1 with VEGF-A |
| 7LL9 | X-RAY | 2.9 Å | D-protein RFX-V2 with VEGF-A |
| 8UWZ | X-RAY | 3.5 Å | Raamsizumab with VEGF121 |
| 9JU1 | X-RAY | 1.45 Å | Helix-loop-helix peptide with VEGF-A |
| 9KKU | X-RAY | 1.46 Å | M49 peptide with VEGF-A |
Method breakdown: 50 X-ray diffraction, 4 NMR, 2 other
Best resolution: 1.32 Å (1MKK)
Predicted Structure (AlphaFold)
| AlphaFold ID | Global pLDDT | Sequence Length | Fraction Very High Confidence |
|---|
| P15692 | 65.32 | 3049 | 0.29 (29%) |
Section 5: Cross-Species Orthologs
| Organism | Gene ID | Symbol | Biotype |
|---|
| Mouse (Mus musculus) | ENSMUSG00000023951 | Vegfa | protein_coding |
| Rat (Rattus norvegicus) | ENSRNOG00000019598 | Vegfa | protein_coding |
| Zebrafish (Danio rerio) | ENSDARG00000034700 | vegfab | protein_coding |
| Zebrafish (Danio rerio) | ENSDARG00000103542 | vegfaa | protein_coding |
| Fruit fly (D. melanogaster) | No direct ortholog | - | - |
| Worm (C. elegans) | No direct ortholog | - | - |
| Yeast (S. cerevisiae) | No ortholog | - | - |
Section 6: Clinical Variants & AI Predictions
ClinVar Variants
Total variant count: 108
Classification breakdown:
| Classification | Count |
|---|
| Pathogenic | 0 |
| Likely Pathogenic | 1 |
| Uncertain Significance (VUS) | ~60 |
| Likely Benign | ~15 |
| Benign | ~10 |
| Other/No classification | ~22 |
Likely Pathogenic Variant:
| Variant ID | HGVS | Classification | Condition |
|---|
| 2632972 | NM_003376.6(VEGFA):c.576_589del (p.Ala193fs) | Likely pathogenic | - |
TOP 30 Variants of Uncertain Significance:
| Variant ID | HGVS Notation | Type |
|---|
| 1007657 | c.7_8dup (p.Asp3fs) | Duplication |
| 1206397 | c.64C>T (p.Arg22Trp) | SNV |
| 2227959 | c.599A>T (p.His200Leu) | SNV |
| 2261356 | c.341G>C (p.Arg114Pro) | SNV |
| 2328107 | c.985A>G (p.Lys329Glu) | SNV |
| 2346464 | c.89G>A (p.Arg30His) | SNV |
| 2355928 | c.214G>T (p.Gly72Trp) | SNV |
| 2478012 | c.469A>C (p.Ser157Arg) | SNV |
| 2533592 | c.1034+42C>T | SNV |
| 2534725 | c.398C>A (p.Ala133Glu) | SNV |
| 2534729 | c.511C>G (p.Arg171Gly) | SNV |
| 2551246 | c.335G>T (p.Gly112Val) | SNV |
| 2552874 | c.692A>C (p.Tyr231Ser) | SNV |
| 290393 | c.973C>T (p.Arg325Ter) | SNV |
| 3061283 | c.1154A>G (p.Glu385Gly) | SNV |
| 3188428 | c.1003C>A (p.Arg335Ser) | SNV |
| 3188429 | c.1058G>A (p.Arg353Gln) | SNV |
| 3188430 | c.1153G>A (p.Glu385Lys) | SNV |
| 3188431 | c.188G>T (p.Arg63Leu) | SNV |
| 3188432 | c.595C>T (p.His199Tyr) | SNV |
| 3188434 | c.703A>G (p.Ile235Val) | SNV |
| 3188435 | c.954A>T (p.Arg318Ser) | SNV |
| 3188436 | c.986A>G (p.Lys329Arg) | SNV |
| 3331993 | c.946A>G (p.Arg316Gly) | SNV |
| 3331995 | c.355T>C (p.Trp119Arg) | SNV |
| 3331996 | c.350G>C (p.Gly117Ala) | SNV |
| 3331997 | c.1099T>A (p.Cys367Ser) | SNV |
| 3467939 | c.1109A>G (p.Lys370Arg) | SNV |
| 3467940 | c.368C>A (p.Ala123Glu) | SNV |
| 3467941 | c.1036C>T (p.Pro346Ser) | SNV |
SpliceAI Predictions
Total predicted splice-altering variants: 1,191
TOP 50 Predicted Splice-Altering Variants (by score):
| Variant | Effect | Delta Score |
|---|
| 6:43771310:AAGGT:A | donor_loss | 0.99 |
| 6:43771313:G:GA | donor_loss | 0.99 |
| 6:43771314:T:G | donor_loss | 0.99 |
| 6:43771673:G:GT | donor_gain | 0.99 |
| 6:43771313:G:GG | donor_gain | 0.95 |
| 6:43771673:G:T | donor_gain | 0.94 |
| 6:43771311:AG:A | donor_gain | 0.93 |
| 6:43771312:GG:G | donor_gain | 0.93 |
| 6:43771010:G:GT | donor_gain | 0.88 |
| 6:43771716:G:GT | donor_gain | 0.88 |
| 6:43770948:G:GT | donor_gain | 0.78 |
| 6:43771664:G:GT | donor_gain | 0.78 |
| 6:43771707:A:AG | donor_gain | 0.77 |
| 6:43771708:G:GG | donor_gain | 0.78 |
| 6:43771598:G:GT | donor_gain | 0.76 |
| 6:43771048:G:GT | donor_gain | 0.76 |
| 6:43771675:A:AG | donor_gain | 0.75 |
| 6:43771676:GTC:G | donor_gain | 0.72 |
| 6:43771703:GACCA:G | donor_gain | 0.70 |
| 6:43771310:AAG:A | donor_gain | 0.70 |
| 6:43771637:G:GT | donor_gain | 0.69 |
| 6:43771595:G:GT | donor_gain | 0.68 |
| 6:43771678:C:G | donor_gain | 0.67 |
| 6:43771309:CAAG:C | donor_gain | 0.64 |
| 6:43771555:C:G | donor_gain | 0.64 |
| 6:43771694:G:GT | donor_gain | 0.63 |
| 6:43771072:G:GT | donor_gain | 0.63 |
| 6:43771711:G:A | donor_gain | 0.60 |
| 6:43771556:G:GG | donor_gain | 0.60 |
| 6:43770998:G:GT | donor_gain | 0.59 |
| 6:43771560:G:GT | donor_gain | 0.59 |
| 6:43771741:G:GT | donor_gain | 0.59 |
| 6:43771690:G:T | donor_gain | 0.58 |
| 6:43771066:G:A | donor_gain | 0.55 |
| 6:43771678:C:CG | donor_gain | 0.55 |
| 6:43771674:A:T | donor_gain | 0.54 |
| 6:43771073:G:T | donor_gain | 0.52 |
| 6:43771553:C:T | donor_gain | 0.51 |
| 6:43771741:G:T | donor_gain | 0.51 |
| 6:43770789:C:T | donor_gain | 0.48 |
| 6:43771678:C:A | donor_gain | 0.47 |
| 6:43771017:A:T | donor_gain | 0.47 |
| 6:43771308:CCAAG:C | donor_gain | 0.46 |
| 6:43771552:GCAC:G | donor_gain | 0.45 |
| 6:43771462:GC:G | donor_gain | 0.45 |
| 6:43771321:T:TA | donor_gain | 0.44 |
| 6:43770800:C:T | donor_gain | 0.43 |
| 6:43771070:G:A | donor_gain | 0.43 |
| 6:43771607:GGGGC:G | donor_gain | 0.42 |
| 6:43771461:TGC:T | donor_gain | 0.41 |
AlphaMissense Predictions
Total predicted missense variants: 1,535
TOP 50 Predicted Pathogenic Missense Variants:
| Variant | Protein Change | AM Pathogenicity | AM Class |
|---|
| 6:43771277:A:C | S11R | 0.979 | likely_pathogenic |
| 6:43771279:C:A | S11R | 0.979 | likely_pathogenic |
| 6:43771279:C:G | S11R | 0.979 | likely_pathogenic |
| 6:43771284:C:A | A13D | 0.979 | likely_pathogenic |
| 6:43771265:T:A | W7R | 0.973 | likely_pathogenic |
| 6:43771265:T:C | W7R | 0.973 | likely_pathogenic |
| 6:43771274:T:A | W10R | 0.971 | likely_pathogenic |
| 6:43771274:T:C | W10R | 0.971 | likely_pathogenic |
| 6:43771293:T:C | L16P | 0.873 | likely_pathogenic |
| 6:43771293:T:G | L16R | 0.871 | likely_pathogenic |
| 6:43771293:T:A | L16H | 0.866 | likely_pathogenic |
| 6:43771295:T:G | Y17D | 0.854 | likely_pathogenic |
| 6:43771281:T:C | L12P | 0.927 | likely_pathogenic |
| 6:43771281:T:A | L12H | 0.925 | likely_pathogenic |
| 6:43771281:T:G | L12R | 0.923 | likely_pathogenic |
| 6:43771253:T:C | F3L | 0.912 | likely_pathogenic |
| 6:43771255:T:A | F3L | 0.912 | likely_pathogenic |
| 6:43771255:T:G | F3L | 0.912 | likely_pathogenic |
| 6:43771290:T:G | L15R | 0.892 | likely_pathogenic |
| 6:43771290:T:C | L15P | 0.875 | likely_pathogenic |
| 6:43771252:C:A | N2K | 0.820 | likely_pathogenic |
| 6:43771252:C:G | N2K | 0.820 | likely_pathogenic |
| 6:43771269:T:A | V8E | 0.820 | likely_pathogenic |
| 6:43771283:G:C | A13P | 0.805 | likely_pathogenic |
| 6:43771251:A:T | N2I | 0.754 | likely_pathogenic |
| 6:43771290:T:A | L15Q | 0.747 | likely_pathogenic |
| 6:43771254:T:C | F3S | 0.728 | likely_pathogenic |
| 6:43771287:T:G | L14W | 0.700 | likely_pathogenic |
| 6:43771271:C:G | H9D | 0.701 | likely_pathogenic |
| 6:43771287:T:C | L14S | 0.688 | likely_pathogenic |
| 6:43771250:A:G | N2D | 0.647 | likely_pathogenic |
| 6:43771257:T:G | L4R | 0.649 | likely_pathogenic |
| 6:43771250:A:T | N2Y | 0.632 | likely_pathogenic |
| 6:43771283:G:A | A13T | 0.610 | likely_pathogenic |
| 6:43771257:T:C | L4P | 0.602 | likely_pathogenic |
| 6:43771295:T:A | Y17N | 0.585 | likely_pathogenic |
| 6:43771254:T:G | F3C | 0.572 | likely_pathogenic |
| 6:43771284:C:T | A13V | 0.564 | ambiguous |
| 6:43771278:G:A | S11N | 0.556 | ambiguous |
| 6:43771295:T:C | Y17H | 0.541 | ambiguous |
| 6:43771266:G:C | W7S | 0.528 | ambiguous |
| 6:43771260:T:C | L5P | 0.517 | ambiguous |
| 6:43771257:T:A | L4Q | 0.512 | ambiguous |
| 6:43771250:A:C | N2H | 0.513 | ambiguous |
| 6:43771251:A:C | N2T | 0.500 | ambiguous |
| 6:43771276:G:C | W10C | 0.451 | ambiguous |
| 6:43771276:G:T | W10C | 0.451 | ambiguous |
| 6:43771263:C:A | S6Y | 0.411 | ambiguous |
| 6:43771269:T:C | V8A | 0.409 | ambiguous |
| 6:43771253:T:A | F3I | 0.403 | ambiguous |
Section 7: Biological Pathways & Gene Ontology
Reactome Pathways
Total pathway count: 10
| Pathway ID | Pathway Name | Disease Pathway |
|---|
| R-HSA-194138 | Signaling by VEGF | No |
| R-HSA-4420097 | VEGFA-VEGFR2 Pathway | No |
| R-HSA-194313 | VEGF ligand-receptor interactions | No |
| R-HSA-195399 | VEGF binds to VEGFR leading to receptor dimerization | No |
| R-HSA-5218921 | VEGFR2 mediated cell proliferation | No |
| R-HSA-114608 | Platelet degranulation | No |
| R-HSA-1234158 | Regulation of gene expression by Hypoxia-inducible Factor | No |
| R-HSA-6785807 | Interleukin-4 and Interleukin-13 signaling | No |
| R-HSA-8866910 | TFAP2 family regulates transcription of growth factors | No |
| R-HSA-9679191 | Potential therapeutics for SARS | Yes |
Gene Ontology Annotations
Biological Process (Total: 100+)
TOP 20 Terms:
| GO ID | Term Name |
|---|
| GO:0001525 | angiogenesis |
| GO:0001570 | vasculogenesis |
| GO:0045766 | positive regulation of angiogenesis |
| GO:0048010 | vascular endothelial growth factor receptor signaling pathway |
| GO:0038084 | vascular endothelial growth factor signaling pathway |
| GO:0036324 | vascular endothelial growth factor receptor-2 signaling pathway |
| GO:0002040 | sprouting angiogenesis |
| GO:0001938 | positive regulation of endothelial cell proliferation |
| GO:0010595 | positive regulation of endothelial cell migration |
| GO:0043536 | positive regulation of blood vessel endothelial cell migration |
| GO:0001666 | response to hypoxia |
| GO:0071456 | cellular response to hypoxia |
| GO:0001946 | lymphangiogenesis |
| GO:0036303 | lymph vessel morphogenesis |
| GO:0043117 | positive regulation of vascular permeability |
| GO:0001569 | branching involved in blood vessel morphogenesis |
| GO:0048844 | artery morphogenesis |
| GO:0060982 | coronary artery morphogenesis |
| GO:0003169 | coronary vein morphogenesis |
| GO:0035767 | endothelial cell chemotaxis |
Molecular Function (Total: 15)
All Terms:
| GO ID | Term Name |
|---|
| GO:0005172 | vascular endothelial growth factor receptor binding |
| GO:0043183 | vascular endothelial growth factor receptor 1 binding |
| GO:0043184 | vascular endothelial growth factor receptor 2 binding |
| GO:0008083 | growth factor activity |
| GO:0005125 | cytokine activity |
| GO:0048018 | receptor ligand activity |
| GO:0030297 | transmembrane receptor protein tyrosine kinase activator activity |
| GO:0008201 | heparin binding |
| GO:0038191 | neuropilin binding |
| GO:0005161 | platelet-derived growth factor receptor binding |
| GO:0001968 | fibronectin binding |
| GO:0042056 | chemoattractant activity |
| GO:0042802 | identical protein binding |
| GO:0042803 | protein homodimerization activity |
| GO:0050840 | extracellular matrix binding |
Cellular Component (Total: 13)
All Terms:
| GO ID | Term Name |
|---|
| GO:0005576 | extracellular region |
| GO:0005615 | extracellular space |
| GO:0031012 | extracellular matrix |
| GO:0009986 | cell surface |
| GO:0031093 | platelet alpha granule lumen |
| GO:0030141 | secretory granule |
| GO:0005783 | endoplasmic reticulum |
| GO:0005794 | Golgi apparatus |
| GO:0005634 | nucleus |
| GO:0005737 | cytoplasm |
| GO:0005912 | adherens junction |
| GO:0016020 | membrane |
| GO:1990150 | VEGF-A complex |
Section 8: Protein Interactions & Molecular Networks
IntAct Interactions
Total interaction count: 53
TOP 30 Highest-Confidence Interacting Proteins:
| Interaction ID | Partner | Interaction Type | Confidence |
|---|
| EBI-1026762 | FLT1 (VEGFR1) | direct interaction | 0.820 |
| EBI-1028540 | FLT1 | direct interaction | 0.820 |
| EBI-9084618 | FLT1 | direct interaction | 0.820 |
| EBI-9098469 | FLT1 | physical association | 0.820 |
| EBI-54757900 | FLT1 | physical association | 0.820 |
| EBI-8310601 | KDR (VEGFR2) | direct interaction | 0.810 |
| EBI-8540559 | KDR | physical association | 0.810 |
| EBI-9098452 | KDR | direct interaction | 0.810 |
| EBI-9558639 | KDR | proximity | 0.810 |
| EBI-1187131 | NRP1 | physical association | 0.770 |
| EBI-21347955 | NRP1 | physical association | 0.770 |
| EBI-8540599 | NRP1 | physical association | 0.770 |
| EBI-8540649 | NRP1 | physical association | 0.770 |
| EBI-8540702 | NRP1 | physical association | 0.770 |
| EBI-6902703 | VEGFA (homodimer) | direct interaction | 0.720 |
| EBI-6902827 | VEGFA | direct interaction | 0.720 |
| EBI-6902836 | VEGFA | direct interaction | 0.720 |
| EBI-6902854 | VEGFA | direct interaction | 0.720 |
| EBI-6902863 | VEGFA | direct interaction | 0.720 |
| EBI-6902872 | VEGFA | direct interaction | 0.720 |
| EBI-6902890 | VEGFA | direct interaction | 0.720 |
| EBI-6902896 | VEGFA | direct interaction | 0.720 |
| EBI-9683487 | VEGFA | direct interaction | 0.720 |
| EBI-9098460 | KDR-GREM1 | physical association | 0.640 |
| EBI-54755932 | VEGFB | association | 0.480 |
| EBI-6594226 | VEGFB | proximity | 0.480 |
| EBI-15630437 | Nrp1 (mouse) | direct interaction | 0.440 |
| EBI-15805699 | THBS1 | physical association | 0.400 |
| EBI-3913707 | U2AF1 | physical association | 0.370 |
| EBI-3920510 | VPS35 | physical association | 0.370 |
BioGRID Interactions
Total interaction count: 113+
Key Interacting Proteins:
| Interactor | Experimental System |
|---|
| KDR (VEGFR2) | Co-localization, Biochemical Activity, Reconstituted Complex |
| FLT1 (VEGFR1) | Affinity Capture-MS, Protein-peptide |
| NRP1 | Affinity Capture-Western |
| HIF1A | Reconstituted Complex |
| SP1 | Reconstituted Complex |
| SP3 | Reconstituted Complex |
| TFAP2A | Reconstituted Complex |
| CLU | Affinity Capture-Western |
| CTGF | Reconstituted Complex |
| GPC1 | Reconstituted Complex |
| HSP90AA1 | Affinity Capture-Western |
| HSPA4 | Affinity Capture-Western |
| CRYAB | Affinity Capture-Western |
| PDIA4 | Affinity Capture-Western |
| USP35 | Affinity Capture-Western |
| VHL | Negative Genetic |
Cell-Cell Communication (CellPhoneDB)
Ligand-receptor pairs: 5
| Partner A | Partner B | Classification |
|---|
| VEGFA | FLT1 | Signaling by VEGF |
| VEGFA | FLT1_KDR complex | Signaling by VEGF |
| VEGFA | KDR | Signaling by VEGF |
| VEGFA | NRP1 | Signaling by VEGF |
| VEGFA | NRP2 | Signaling by VEGF |
Protein Similarity
ESM2 Structural/Embedding Similarity
Total similar proteins: 15
| UniProt ID | Top Similarity Score | Average Similarity |
|---|
| P09038 | 0.9998 | 0.9658 |
| Q5IS69 | 0.9998 | 0.9666 |
| Q00731 | 0.9990 | 0.9774 |
| Q8NAU1 | 0.9986 | 0.9821 |
| Q6DRA6 | 0.9971 | 0.9661 |
| B9A064 | 0.9964 | 0.9638 |
| O15354 (VEGFB) | 0.9949 | 0.9730 |
| Q8WTX9 | 0.9910 | 0.9799 |
| Q2M2W7 | 0.9900 | 0.9623 |
| Q8CEZ0 | 0.9868 | 0.9762 |
| P49763 (VEGFC) | 0.9851 | 0.9769 |
| O15428 (VEGFD) | 0.9740 | 0.9609 |
| Q5JTJ3 | 0.9700 | 0.9642 |
| P21978 | 0.9644 | 0.9598 |
DIAMOND Sequence Homology
Total homologous proteins: 52
TOP 20 by Identity:
| UniProt ID | Identity % | Bit Score |
|---|
| P67964 | 100.0 | 416 |
| P67965 | 100.0 | 416 |
| P0DW97 | 99.1 | 222 |
| P82475 | 99.1 | 223 |
| P83942 | 99.1 | 223 |
| P15691 | 99.3 | 395 |
| P50412 | 99.3 | 296 |
| P0DL42 | 98.2 | 226 |
| P67861 | 98.2 | 266 |
| P67863 | 99.1 | 266 |
| B0VXV3 | 98.7 | 301 |
| B0VXV4 | 98.7 | 301 |
| P16612 | 98.6 | 423 |
| Q00731 | 98.6 | 576 |
| Q6J936 | 97.9 | 296 |
| Q90X23 | 97.9 | 295 |
| O35757 (mouse) | 97.6 | 764 |
| P97953 (rat) | 97.6 | 765 |
| P49151 | 96.8 | 397 |
| Q9GKR0 | 96.3 | 390 |
Section 9: Transcription Factor Regulatory Data
Upstream Regulators (TFs that regulate VEGFA)
Total identified regulators: 173
TOP 50 Transcription Factors Regulating VEGFA:
| TF Symbol | Relationship |
|---|
| HIF1A | up-regulates quantity (transcriptional regulation) |
| EPAS1 (HIF2A) | major regulator |
| STAT3 | up-regulates quantity by expression |
| MYC | up-regulates quantity by expression |
| SP1 | transcriptional activator |
| SP3 | transcriptional activator |
| TFAP2A | transcriptional activator |
| RUNX2 | up-regulates quantity by expression |
| MYOD1 | up-regulates quantity by expression |
| CREB1 | regulator |
| ATF4 | regulator |
| ATF3 | regulator |
| ATF6 | regulator |
| ARNT | regulator |
| ESR1 | regulator |
| ESR2 | regulator |
| AR | regulator |
| EGR1 | regulator |
| ETS1 | regulator |
| ETV4 | regulator |
| ETV6 | regulator |
| E2F1 | regulator |
| E2F3 | regulator |
| E2F7 | regulator |
| E2F8 | regulator |
| FOXO1 | regulator |
| FOXO3 | regulator |
| FOXO4 | regulator |
| FOXC1 | regulator |
| FOXM1 | regulator |
| FOXP3 | regulator |
| FOXQ1 | regulator |
| FOS | regulator |
| AP1 | regulator |
| GATA4 | regulator |
| GATA6 | regulator |
| CTNNB1 | regulator |
| BMAL1 | regulator |
| BRCA1 | regulator |
| EP300 | regulator |
| ESRRA | regulator |
| CEBPA | regulator |
| GABPA | regulator |
| HLF | regulator |
| FHL1 | regulator |
| DDIT3 | regulator |
| DLX4 | regulator |
| ELK3 | regulator |
| HIC1 | down-regulates quantity by repression |
| ZMYND8 | down-regulates quantity by repression |
Post-transcriptional Regulators (miRNAs)
| miRNA | Effect |
|---|
| hsa-miR-30a-3p | down-regulates quantity by repression |
| hsa-miR-199a-5p | down-regulates quantity by repression |
| hsa-miR-200b-5p | down-regulates quantity by repression |
SIGNOR Regulatory Interactions
| Entity | Target | Effect | Mechanism |
|---|
| HIF1A | VEGFA | up-regulates | transcriptional regulation |
| STAT3 | VEGFA | up-regulates | transcriptional regulation |
| MYC | VEGFA | up-regulates | transcriptional regulation |
| RUNX2 | VEGFA | up-regulates | transcriptional regulation |
| MYOD1 | VEGFA | up-regulates | transcriptional regulation |
| HIC1 | VEGFA | down-regulates | transcriptional regulation |
| ZMYND8 | VEGFA | down-regulates | transcriptional regulation |
Downstream Targets of VEGFA
| Target | Effect | Mechanism |
|---|
| FLT1 | up-regulates | binding |
| KDR | up-regulates | binding |
| DLL4 | up-regulates quantity | transcriptional regulation |
| Angiogenesis (phenotype) | up-regulates | - |
Note: VEGFA is NOT a transcription factor; it is a secreted growth factor. The regulatory data above shows factors that regulate VEGFA expression.
Section 10: Drug & Pharmacology Data
ChEMBL Target Information
| Target ID | Target Name | Type |
|---|
| CHEMBL1783 | Vascular endothelial growth factor A | SINGLE PROTEIN |
| CHEMBL5482974 | VEGFA-NRP1 | PROTEIN-PROTEIN INTERACTION |
| CHEMBL5482995 | NRP2-VEGFA | PROTEIN COMPLEX |
| CHEMBL5482996 | VEGFR1-VEGFA | PROTEIN COMPLEX |
| CHEMBL5482997 | VEGFR2-VEGFA | PROTEIN COMPLEX |
Approved Drugs Targeting VEGFA (Phase 4)
| ChEMBL ID | Drug Name | Type | Phase |
|---|
| CHEMBL3646221 | VADADUSTAT | Small molecule | 4 (Approved) |
| CHEMBL4585668 | BELZUTIFAN | Small molecule | 4 (Approved) |
Drugs in Clinical Development
| ChEMBL ID | Drug Name | Type | Phase |
|---|
| CHEMBL253969 | OSI-632 (CP 547632) | Small molecule | 2 |
| CHEMBL3115298 | IZILENDUSTAT | Small molecule | 2 |
| CHEMBL5314521 | IMDATIFAN | Small molecule | 2 |
PharmGKB Drug-Gene Interactions
VEGFA is classified as a VIP (Very Important Pharmacogene)
Total drug interactions: 24
| Drug/Drug Class | Clinical Annotations | Variant Annotations |
|---|
| Bevacizumab (VEGF inhibitor) | 24 | 162 |
| VEGF/VEGFR inhibitors (class) | 24 | 164 |
| Sunitinib | 16 | 138 |
| Sorafenib | 40 | 80 |
| Pazopanib | 2 | 27 |
| Ranibizumab | 7 | 79 |
| Aflibercept | 0 | 1 |
| Pegaptanib | 1 | 2 |
| Cetuximab | 15 | 87 |
| Panitumumab | 6 | 39 |
| Pemetrexed | 12 | 29 |
| Adalimumab | 18 | 118 |
| Anthracyclines (class) | 192 | 731 |
| Taxanes (class) | 138 | 529 |
| Epirubicin | 49 | 175 |
| Lenalidomide | 4 | 23 |
| Thalidomide | 26 | 31 |
| Carfilzomib | 0 | 4 |
| Warfarin | 90 | 1,220 |
| Dexamethasone | 14 | 55 |
| Celecoxib | 6 | 44 |
| Enalapril | 10 | 44 |
| Sildenafil | 5 | 8 |
| Salbutamol | 21 | 59 |
Direct VEGFA Inhibitors (from SIGNOR)
| Drug | Mechanism | Effect |
|---|
| Bevacizumab | binding (antibody) | down-regulates activity |
| Aflibercept | chemical inhibition (decoy receptor) | down-regulates activity |
BindingDB Data
Total binding data entries: 406+
Compounds with measured binding affinity to VEGFA target pathways including HIF-PHD inhibitors (which upregulate VEGFA) and direct VEGF binders.
Section 11: Expression Profiles
Bgee Expression Summary
| Attribute | Value |
|---|
| Expression Breadth | Ubiquitous |
| Total Tissues with Expression | 297 |
| Total Absent Calls | 1 |
| Max Expression Score | 99.59 |
| Average Expression Score | 92.05 |
| Gold Quality Measurements | 290 |
TOP 30 Tissues by Expression Score
| Tissue (UBERON ID) | Expression Score | Quality |
|---|
| Right lobe of thyroid gland (UBERON:0001119) | 99.59 | Gold |
| Left lobe of thyroid gland (UBERON:0001120) | 99.53 | Gold |
| Thyroid gland (UBERON:0002046) | 99.51 | Gold |
| Renal glomerulus (UBERON:0000074) | 99.25 | Gold |
| Metanephric glomerulus (UBERON:0004736) | 99.17 | Gold |
| Pigmented layer of retina (UBERON:0001782) | 99.12 | Gold |
| Retina (UBERON:0000966) | 99.10 | Gold |
| Cartilage tissue (UBERON:0002418) | 98.92 | Gold |
| Right lobe of liver (UBERON:0001114) | 98.89 | Gold |
| Apex of heart (UBERON:0002098) | 98.88 | Gold |
| Pericardium (UBERON:0002407) | 98.79 | Gold |
| Right atrium auricular region (UBERON:0006631) | 98.61 | Gold |
| Ventricular zone (UBERON:0003053) | 98.58 | Gold |
| Cardiac atrium (UBERON:0002081) | 98.55 | Gold |
| Gall bladder (UBERON:0002110) | 98.54 | Gold |
| Gastrocnemius (UBERON:0001388) | 98.51 | Gold |
| Metanephros (UBERON:0000081) | 98.49 | Gold |
| Body of uterus (UBERON:0009853) | 98.44 | Gold |
| Lower esophagus mucosa (UBERON:0035834) | 98.44 | Gold |
| Mucosa of paranasal sinus (UBERON:0005030) | 98.41 | Gold |
| Body of tongue (UBERON:0011876) | 98.40 | Gold |
| Islet of Langerhans (UBERON:0000006) | 98.38 | Gold |
| Vena cava (UBERON:0004087) | 98.37 | Gold |
| Cortex of kidney (UBERON:0001225) | 98.34 | Gold |
| Type B pancreatic cell (CL:0000169) | 98.33 | Gold |
| Renal medulla (UBERON:0000362) | 98.33 | Gold |
| Omental fat pad (UBERON:0010414) | 98.32 | Gold |
| Peritoneum (UBERON:0002358) | 98.31 | Gold |
| Saphenous vein (UBERON:0007318) | 98.29 | Gold |
| Adipose tissue of abdominal region (UBERON:0007808) | 98.23 | Gold |
Single-Cell Expression Datasets
Total datasets: 11
| Dataset ID | Description | Species | Cell Count |
|---|
| E-MTAB-8495 | Single-cell RNA-seq of human biliary tree | Homo sapiens | 160,459 |
| E-MTAB-9435 | Single-cell RNA-seq of IDHwt glioblastoma | Homo sapiens | 62,867 |
| E-MTAB-8559 | Single-cell RNA-seq of ovarian cancer | Homo sapiens | 20,982 |
| E-GEOD-124472 | Human embryonic kidney cells | Homo sapiens | 18,079 |
| E-GEOD-137537 | Human retina - macular degeneration study | Homo sapiens | 12,881 |
| E-CURD-135 | Kidney organoid vs adult kidney | Homo sapiens | 6,192 |
| E-ENAD-27 | Human islet cells - type 2 diabetes | Homo sapiens | 1,145 |
| E-CURD-7 | Adult human breast epithelial cells | Homo sapiens | 867 |
| E-ENAD-21 | Single-cell RNA-seq breast epithelial | Homo sapiens | 867 |
| E-CURD-10 | Metastatic renal cell carcinoma | Homo sapiens | 118 |
| E-MTAB-6058 | Human foetal cone photoreceptors | Homo sapiens | 74 |
Section 12: Disease Associations
Mendelian/Monogenic Disease Links (MONDO)
| Disease ID | Disease Name | Evidence |
|---|
| MONDO:0011386 | Microvascular complications of diabetes, susceptibility to, 1 (MVCD1) | ClinVar, OMIM |
Synonyms:
- End-stage renal disease, diabetic, susceptibility to
- Diabetic nephropathy, susceptibility to
- Diabetic neuropathy, susceptibility to
- Nonproliferative diabetic retinopathy, susceptibility to
- Proliferative diabetic retinopathy, susceptibility to
GWAS Associations
Total GWAS associations: 260+
TOP 30 GWAS Associations by Significance:
| Study ID | Trait/Disease | P-value |
|---|
| GCST004422_37 | Vascular endothelial growth factor levels | 2×10⁻¹⁷¹ |
| GCST004439_21 | Interleukin-12p70 levels | 3×10⁻¹²⁴ |
| GCST004443_2 | Interleukin-13 levels | 1×10⁻⁶⁵ |
| GCST004444_26 | Interleukin-10 levels | 6×10⁻⁶⁷ |
| GCST004451_18 | Interleukin-7 levels | 7×10⁻³⁹ |
| GCST002782_170 | Waist-to-hip ratio (BMI adjusted) | 4×10⁻³⁴ |
| GCST004063_94 | Waist circumference (BMI adjusted) | 4×10⁻³⁰ |
| GCST001155_4 | Vascular endothelial growth factor levels | 2×10⁻²⁶ |
| GCST000829_2 | Waist-hip ratio | 6×10⁻²⁵ |
| GCST004064_14 | Waist-hip ratio | 2×10⁻²⁴ |
| GCST004604_34 | Hematocrit | 3×10⁻²² |
| GCST004576_11 | Waist-to-hip ratio (BMI adjusted) | 3×10⁻²¹ |
| GCST004615_87 | Hemoglobin concentration | 1×10⁻²⁰ |
| GCST004567_130 | WHR adjusted for BMI (physical activity) | 1×10⁻²⁰ |
| GCST004601_80 | Red blood cell count | 3×10⁻¹⁶ |
| GCST001856_29 | Thyroid hormone levels | 7×10⁻¹⁶ |
| GCST001791_41 | Urate levels | 8×10⁻¹⁶ |
| GCST004237_40 | Triglyceride levels | 6×10⁻¹⁶ |
| GCST004063_12 | Waist circumference (BMI adjusted) | 6×10⁻¹⁵ |
| GCST003372_50 | Glomerular filtration rate (creatinine) | 3×10⁻¹⁵ |
| GCST002216_9 | Triglycerides | 3×10⁻¹⁵ |
| GCST003219_22 | Advanced age-related macular degeneration | 1×10⁻¹⁴ |
| GCST000649_14 | Chronic kidney disease | 9×10⁻¹⁴ |
| GCST004292_49 | Glomerular filtration rate (creatinine) | 1×10⁻¹³ |
| GCST004622_33 | Reticulocyte count | 3×10⁻¹³ |
| GCST005194_228 | Coronary artery disease | 2×10⁻¹² |
| GCST004232_58 | HDL cholesterol levels | 2×10⁻¹² |
| GCST002223_68 | HDL cholesterol | 2×10⁻¹¹ |
| GCST002063_2 | Sexual dimorphism in anthropometric traits | 2×10⁻¹¹ |
| GCST004619_74 | Reticulocyte fraction of red cells | 7×10⁻¹¹ |
Clinical Traits Associated with VEGFA Variants
| Category | Associated Traits |
|---|
| Metabolic | Type 2 diabetes, Triglycerides, HDL cholesterol, Urate levels |
| Anthropometric | Waist-hip ratio, Waist circumference, Body mass index |
| Cardiovascular | Coronary heart disease, Coronary artery disease |
| Renal | Chronic kidney disease, Glomerular filtration rate |
| Ophthalmologic | Age-related macular degeneration |
| Hematologic | Red blood cell count, Hematocrit, Hemoglobin, Reticulocyte count, White blood cell count |
| Endocrine | Thyroid hormone levels, Adiponectin levels, Hypothyroidism |
| Cytokines | VEGF levels, IL-10, IL-12p70, IL-13, IL-7 levels |
Clinical Trials (via MONDO Disease)
Total clinical trials: 857 (associated with microvascular complications of diabetes)
SUMMARY STATISTICS
| Category | Count |
|---|
| Gene Identifiers | 5 major databases |
| Transcripts (Ensembl) | 26 |
| RefSeq mRNAs (human) | 20+ |
| CCDS IDs | 17 |
| UniProt Accessions | 14 |
| InterPro Domains | 6 |
| PDB Structures | 56 |
| Orthologs | 4 species |
| ClinVar Variants | 108 |
| SpliceAI Predictions | 1,191 |
| AlphaMissense Predictions | 1,535 |
| Reactome Pathways | 10 |
| GO Biological Process | 100+ |
| GO Molecular Function | 15 |
| GO Cellular Component | 13 |
| IntAct Interactions | 53 |
| BioGRID Interactions | 113+ |
| Upstream TF Regulators | 173 |
| PharmGKB Drug Interactions | 24 |
| ChEMBL Targeting Molecules | 100+ |
| GWAS Associations | 260+ |
| Expression Tissues | 297 |
| Single-cell Datasets | 11 |
Document Generated: 2026-03-26
Data Sources: HGNC, Ensembl, NCBI, UniProt, PDB, AlphaFold, ClinVar, SpliceAI, AlphaMissense, Reactome, Gene Ontology, IntAct, BioGRID, SIGNOR, CollecTRI, CellPhoneDB, ChEMBL, PharmGKB, BindingDB,
Bgee, Single Cell Expression Atlas, MONDO, GWAS Catalog
This comprehensive reference for VEGFA (Vascular Endothelial Growth Factor A) covers all 12 requested sections with complete cross-database identifier mappings. Key highlights:
- 56 experimental structures in PDB (best resolution: 1.32 Å)
- 26 transcript isoforms with MANE Select canonical (NM_003376/ENST00000372067)
- Ubiquitous expression across 297 tissues, highest in thyroid and kidney
- 1,535 AlphaMissense predictions for pathogenicity assessment
- 173 transcription factors identified as upstream regulators
- 2 FDA-approved drugs (Vadadustat, Belzutifan) and 24 PharmGKB drug interactions
- Strong GWAS associations with metabolic, cardiovascular, and ophthalmologic traits