HEG1
gene geneOn this page
Also known as KIAA1237HEG
Summary
HEG1 (heart development protein with EGF like domains 1, HGNC:29227) is a protein-coding gene on chromosome 3q21.2, encoding Protein HEG homolog 1 (Q9ULI3). Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity.
Predicted to enable calcium ion binding activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of Rho-dependent protein serine/threonine kinase activity; and negative regulation of membrane permeability. Located in cell-cell junction.
Source: NCBI Gene 57493 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 247 total
- MANE Select transcript:
NM_020733
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29227 |
| Approved symbol | HEG1 |
| Name | heart development protein with EGF like domains 1 |
| Location | 3q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1237, HEG |
| Ensembl gene | ENSG00000173706 |
| Ensembl biotype | protein_coding |
| OMIM | 614182 |
| Entrez | 57493 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 2 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000311127, ENST00000480667, ENST00000482699, ENST00000488654, ENST00000650592
RefSeq mRNA: 1 — MANE Select: NM_020733
NM_020733
CCDS: CCDS46898
Canonical transcript exons
ENST00000311127 — 17 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001184970 | 124990787 | 124990824 |
| ENSE00001184975 | 124990944 | 124990986 |
| ENSE00001184978 | 124997689 | 124997823 |
| ENSE00001184980 | 125001852 | 125002012 |
| ENSE00001184983 | 125002257 | 125002315 |
| ENSE00001184987 | 125005265 | 125005368 |
| ENSE00001184995 | 125009705 | 125009824 |
| ENSE00001184997 | 125010439 | 125010555 |
| ENSE00001274034 | 124977859 | 124977946 |
| ENSE00001308188 | 125012623 | 125013990 |
| ENSE00001317153 | 124965710 | 124970801 |
| ENSE00001329347 | 124973731 | 124973905 |
| ENSE00001371349 | 125020792 | 125021130 |
| ENSE00001378214 | 125027205 | 125027507 |
| ENSE00001382448 | 125019262 | 125019597 |
| ENSE00001409218 | 125029195 | 125029488 |
| ENSE00001563765 | 125055575 | 125055997 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 99.42.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.6514 / max 748.0491, expressed in 1655 samples.
FANTOM5 promoters (17 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 44270 | 15.6411 | 1512 |
| 44268 | 2.2628 | 845 |
| 44266 | 1.9261 | 804 |
| 44271 | 1.1704 | 723 |
| 44264 | 1.1030 | 525 |
| 44273 | 0.9028 | 663 |
| 44265 | 0.6594 | 343 |
| 44269 | 0.5491 | 298 |
| 44261 | 0.5132 | 276 |
| 44272 | 0.4686 | 276 |
Top tissues by expression
299 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parietal pleura | UBERON:0002400 | 99.42 | gold quality |
| pleura | UBERON:0000977 | 99.20 | gold quality |
| visceral pleura | UBERON:0002401 | 99.11 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 98.35 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 97.92 | gold quality |
| lower lobe of lung | UBERON:0008949 | 97.73 | gold quality |
| synovial joint | UBERON:0002217 | 97.70 | gold quality |
| vena cava | UBERON:0004087 | 97.37 | gold quality |
| myocardium | UBERON:0002349 | 96.78 | gold quality |
| superficial temporal artery | UBERON:0001614 | 96.46 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 96.36 | gold quality |
| ventricular zone | UBERON:0003053 | 96.27 | gold quality |
| layer of synovial tissue | UBERON:0007616 | 96.21 | gold quality |
| cardia of stomach | UBERON:0001162 | 95.79 | gold quality |
| heart right ventricle | UBERON:0002080 | 95.75 | gold quality |
| urethra | UBERON:0000057 | 95.65 | gold quality |
| pericardium | UBERON:0002407 | 95.62 | gold quality |
| colonic epithelium | UBERON:0000397 | 95.26 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.00 | gold quality |
| adult organism | UBERON:0007023 | 94.97 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 94.63 | gold quality |
| gall bladder | UBERON:0002110 | 94.48 | gold quality |
| pylorus | UBERON:0001166 | 94.40 | gold quality |
| hair follicle | UBERON:0002073 | 94.36 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.31 | gold quality |
| lung | UBERON:0002048 | 94.24 | gold quality |
| saphenous vein | UBERON:0007318 | 94.15 | gold quality |
| blood vessel layer | UBERON:0004797 | 93.70 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 93.64 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 93.54 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-8205 | yes | 385.03 |
| E-GEOD-135922 | yes | 38.06 |
| E-CURD-119 | yes | 23.47 |
| E-ANND-3 | yes | 20.37 |
| E-GEOD-124858 | no | 662.15 |
| E-MTAB-10137 | no | 3.90 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
210 targeting HEG1, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4534 | 99.99 | 66.58 | 1907 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
Literature-anchored findings (GeneRIF, showing 12)
- Identification of the zebrafish heart of glass (heg) gene. Description of HEG’s role in the regulation of concentric heart growth in zebrafish. (PMID:14680629)
- These data show that HEG1 can recruit the Rap1-KRIT complex to the plasma membrane. (PMID:23814056)
- Human patients with cerebral cavernous malformations who lack exonic mutations in krev interaction trapped protein (KRIT)1, cerebral cavernous malformation (CCM) protein 2, or programmed cell death (PDCD)10 protein do not have mutations in HEG. (PMID:24643410)
- These studies establish that the binding of HEG1 to Rasip1 mediates Rap1-dependent recruitment of Rasip1 to and stabilization of endothelial cell cell-cell junctions. (PMID:26780829)
- Study shows that HEG homolog 1 is a novel mucin-like membrane protein that serves as a diagnostic and therapeutic target for malignant mesothelioma. (PMID:28361969)
- he specific detection of mesothelioma with SKM9-2 can thus be performed by the recognition of sialylated glycan modification in the specific region of HEG1 (PMID:30250045)
- HEG1 overexpression significantly promotes HCC cell migration, invasion and epithelial-mesenchymal transition. (PMID:31278131)
- HEG1 Is a Highly Specific and Sensitive Marker of Epithelioid Malignant Mesothelioma. (PMID:32205484)
- HEG1-responsive microRNA-23b regulates cell proliferation in malignant mesothelioma cells. (PMID:32284171)
- LncRNA SNHG12 promotes proliferation and epithelial mesenchymal transition in hepatocellular carcinoma through targeting HEG1 via miR-516a-5p. (PMID:33774129)
- Membranous HEG1 expression is a useful marker in the differential diagnosis of epithelioid and biphasic malignant mesothelioma versus carcinomas. (PMID:34240508)
- HEG1 Protects Against Atherosclerosis by Regulating Stable Flow-Induced KLF2/4 Expression in Endothelial Cells. (PMID:38099436)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | heg1 | ENSDARG00000018441 |
| mus_musculus | Heg1 | ENSMUSG00000075254 |
| rattus_norvegicus | Heg1 | ENSRNOG00000001793 |
Protein
Protein identifiers
Protein HEG homolog 1 — Q9ULI3 (reviewed: Q9ULI3)
All UniProt accessions (3): Q9ULI3, A0A994J6K3, H7C4K2
UniProt curated annotations — full annotation on UniProt →
Function. Receptor component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions.
Subunit / interactions. Interacts with CCM2 and KRIT1; KRIT1 markedly facilitates interaction with CCM2.
Subcellular location. Cell membrane. Cell junction Secreted.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9ULI3-1 | 1 | yes |
| Q9ULI3-2 | 2 |
RefSeq proteins (1): NP_065784* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000152 | EGF-type_Asp/Asn_hydroxyl_site | PTM |
| IPR000742 | EGF | Domain |
| IPR001881 | EGF-like_Ca-bd_dom | Domain |
| IPR018097 | EGF_Ca-bd_CS | Conserved_site |
| IPR049883 | NOTCH1_EGF-like | Domain |
Pfam: PF00008, PF07645
UniProt features (50 total): compositionally biased region 13, glycosylation site 9, region of interest 7, disulfide bond 6, sequence variant 5, topological domain 2, splice variant 2, domain 2, signal peptide 1, chain 1, modified residue 1, transmembrane region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4HDQ | X-RAY DIFFRACTION | 1.95 |
| 3U7D | X-RAY DIFFRACTION | 2.49 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9ULI3-F1 | 42.34 | 0.02 |
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): 1359
Disulfide bonds (6): 989–1000, 994–1011, 1013–1022, 1029–1040, 1034–1049, 1051–1062
Glycosylation sites (9): 67, 123, 159, 180, 314, 462, 520, 610, 1137
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 356 (showing top):
GOBP_CARDIAC_CHAMBER_DEVELOPMENT, GOBP_ENDOTHELIAL_CELL_DEVELOPMENT, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, KOBAYASHI_EGFR_SIGNALING_24HR_UP, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_CARDIAC_SEPTUM_DEVELOPMENT, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_REGULATION_OF_PHOSPHORYLATION, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, GOBP_HEART_TRABECULA_MORPHOGENESIS, GOBP_NEGATIVE_REGULATION_OF_KINASE_ACTIVITY, GOBP_CARDIAC_CHAMBER_MORPHOGENESIS, GOBP_EPITHELIAL_CELL_DEVELOPMENT, MODULE_45
GO Biological Process (26): vasculogenesis (GO:0001570), in utero embryonic development (GO:0001701), endothelial cell morphogenesis (GO:0001886), lymph vessel development (GO:0001945), lymph circulation (GO:0003017), cardiac atrium morphogenesis (GO:0003209), ventricular trabecula myocardium morphogenesis (GO:0003222), ventricular septum development (GO:0003281), heart development (GO:0007507), post-embryonic development (GO:0009791), lung development (GO:0030324), negative regulation of Rho protein signal transduction (GO:0035024), multicellular organism growth (GO:0035264), cell-cell junction organization (GO:0045216), venous blood vessel morphogenesis (GO:0048845), regulation of body fluid levels (GO:0050878), cardiac muscle tissue growth (GO:0055017), pericardium development (GO:0060039), positive regulation of fibroblast growth factor production (GO:0090271), protein localization to cell junction (GO:1902414), negative regulation of membrane permeability (GO:1905709), obsolete negative regulation of Rho-dependent protein serine/threonine kinase activity (GO:2000299), endothelial cell development (GO:0001885), vasculature development (GO:0001944), regulation of macromolecule metabolic process (GO:0060255), regulation of biological quality (GO:0065008)
GO Molecular Function (2): calcium ion binding (GO:0005509), protein binding (GO:0005515)
GO Cellular Component (7): extracellular region (GO:0005576), cell-cell junction (GO:0005911), external side of plasma membrane (GO:0009897), plasma membrane (GO:0005886), cell surface (GO:0009986), membrane (GO:0016020), anchoring junction (GO:0070161)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| blood vessel morphogenesis | 2 |
| animal organ development | 2 |
| multicellular organismal process | 2 |
| developmental growth | 2 |
| cell differentiation | 1 |
| chordate embryonic development | 1 |
| endothelial cell development | 1 |
| epithelial cell morphogenesis | 1 |
| vasculature development | 1 |
| anatomical structure development | 1 |
| circulatory system process | 1 |
| cardiac chamber morphogenesis | 1 |
| cardiac atrium development | 1 |
| ventricular cardiac muscle tissue morphogenesis | 1 |
| heart trabecula morphogenesis | 1 |
| cardiac ventricle development | 1 |
| cardiac septum development | 1 |
| circulatory system development | 1 |
| multicellular organism development | 1 |
| respiratory tube development | 1 |
| respiratory system development | 1 |
| Rho protein signal transduction | 1 |
| regulation of Rho protein signal transduction | 1 |
| negative regulation of small GTPase mediated signal transduction | 1 |
| cell junction organization | 1 |
| venous blood vessel development | 1 |
| regulation of biological quality | 1 |
| cardiac muscle tissue development | 1 |
| heart growth | 1 |
| heart development | 1 |
| epithelium development | 1 |
| positive regulation of cytokine production | 1 |
| fibroblast growth factor production | 1 |
| regulation of fibroblast growth factor production | 1 |
| intracellular protein localization | 1 |
| metal ion binding | 1 |
| binding | 1 |
| anchoring junction | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
1211 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HEG1 | KRIT1 | O00522 | 966 |
| HEG1 | CCM2 | Q9BSQ5 | 837 |
| HEG1 | PDCD10 | Q9BUL8 | 773 |
| HEG1 | RASIP1 | Q5U651 | 662 |
| HEG1 | CCM2L | Q9NUG4 | 584 |
| HEG1 | CTNNB1 | P35222 | 532 |
| HEG1 | ITGB1BP1 | O14713 | 507 |
| HEG1 | CCDC102A | Q96A19 | 460 |
| HEG1 | STK25 | O00506 | 386 |
| HEG1 | C1orf198 | Q9H425 | 371 |
| HEG1 | ARHGAP29 | Q52LW3 | 366 |
| HEG1 | RAP1A | P10113 | 359 |
| HEG1 | KTN1 | Q86UP2 | 352 |
| HEG1 | RPA1 | P27694 | 349 |
| HEG1 | COX7A2 | P14406 | 349 |
| HEG1 | INO80D | Q53TQ3 | 349 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HEG1 | KRIT1 | psi-mi:“MI:0915”(physical association) | 0.730 |
| HEG1 | KRIT1 | psi-mi:“MI:0407”(direct interaction) | 0.730 |
| LGALS1 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS3 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS1 | LAMA5 | psi-mi:“MI:0914”(association) | 0.530 |
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS8 | SLC22A23 | psi-mi:“MI:0914”(association) | 0.350 |
| LGALS3 | PODXL | psi-mi:“MI:0914”(association) | 0.350 |
| KRIT1 | UBFD1 | psi-mi:“MI:0914”(association) | 0.350 |
| LGALS8 | NPC1 | psi-mi:“MI:0914”(association) | 0.350 |
| LGALS3 | SDCBP | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (18): HEG1 (Affinity Capture-MS), HEG1 (Affinity Capture-MS), HEG1 (Affinity Capture-MS), HEG1 (Affinity Capture-MS), HEG1 (Affinity Capture-MS), HEG1 (Affinity Capture-RNA), HEG1 (Proximity Label-MS), HEG1 (Affinity Capture-MS), HEG1 (Affinity Capture-MS), HEG1 (Affinity Capture-MS), HEG1 (Affinity Capture-MS), HEG1 (Affinity Capture-MS), HEG1 (Affinity Capture-RNA), HEG1 (Proximity Label-MS), HEG1 (Proximity Label-MS)
ESM2 similar proteins: A0A1B0GUW6, A1EGX6, A6NM11, A6NMS7, A6QLF8, D3YU32, I3L273, J3KML8, O35930, O60309, Q08DY0, Q14242, Q2TBI7, Q32KG4, Q32L62, Q3MIW9, Q3TNW5, Q3V0E1, Q4R729, Q5VWK0, Q5VYM1, Q62170, Q659K0, Q68DN1, Q6AZ54, Q6MG22, Q6UXB8, Q6ZRG5, Q8BUE7, Q8K4E0, Q8N307, Q8N3K9, Q8TCU4, Q8WNU4, Q8WXI7, Q95JY5, Q96F05, Q96JA4, Q96M34, Q96M43
Diamond homologs: A0A096LNW5, A2RUV0, B4DH59, G3I6Z6, O35474, O35516, O75095, O89019, P07207, P0DPK3, P0DPK4, P13508, P20749, P21783, P31695, P46530, P46531, P82279, Q01705, Q04721, Q07008, Q20911, Q499M5, Q502K3, Q5RBP1, Q61982, Q6UXI9, Q6UY11, Q7Z3S9, Q810B6, Q8AVH7, Q8IUX8, Q91V88, Q99466, Q9FY48, Q9JJZ5, Q9P2R3, Q9QW30, Q9QXT5, Q9R172
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
247 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 191 |
| Likely benign | 22 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2496 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:124970806:T:TC | acceptor_gain | 1.0000 |
| 3:124970810:C:CT | acceptor_gain | 1.0000 |
| 3:124970810:C:T | acceptor_gain | 1.0000 |
| 3:124970811:A:T | acceptor_gain | 1.0000 |
| 3:124973681:T:TA | donor_gain | 1.0000 |
| 3:124973726:CACA:C | donor_loss | 1.0000 |
| 3:124973727:ACAC:A | donor_loss | 1.0000 |
| 3:124973728:CA:C | donor_loss | 1.0000 |
| 3:124973729:A:AC | donor_gain | 1.0000 |
| 3:124973729:AC:A | donor_loss | 1.0000 |
| 3:124973730:C:CC | donor_gain | 1.0000 |
| 3:124973730:CCGAG:C | donor_loss | 1.0000 |
| 3:124973744:T:TA | donor_gain | 1.0000 |
| 3:124973773:T:TA | donor_gain | 1.0000 |
| 3:124973774:C:A | donor_gain | 1.0000 |
| 3:124973902:CTTT:C | acceptor_gain | 1.0000 |
| 3:124973906:C:CC | acceptor_gain | 1.0000 |
| 3:124977853:ACTT:A | donor_loss | 1.0000 |
| 3:124977854:CTTA:C | donor_loss | 1.0000 |
| 3:124977855:TTAC:T | donor_loss | 1.0000 |
| 3:124977856:TACCT:T | donor_loss | 1.0000 |
| 3:124977857:ACC:A | donor_loss | 1.0000 |
| 3:124977858:C:CT | donor_loss | 1.0000 |
| 3:124990785:A:AC | donor_gain | 1.0000 |
| 3:124990786:C:CC | donor_gain | 1.0000 |
| 3:124990825:C:CC | acceptor_gain | 1.0000 |
| 3:124990833:C:CT | acceptor_gain | 1.0000 |
| 3:124990833:C:T | acceptor_gain | 1.0000 |
| 3:124990834:A:T | acceptor_gain | 1.0000 |
| 3:124990939:CCTAC:C | donor_loss | 1.0000 |
AlphaMissense
8829 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:124973806:C:A | W1307C | 1.000 |
| 3:124973806:C:G | W1307C | 1.000 |
| 3:124990983:C:G | C1219S | 1.000 |
| 3:124990983:C:T | C1219Y | 1.000 |
| 3:124990984:A:T | C1219S | 1.000 |
| 3:124970718:G:C | C1360W | 0.999 |
| 3:124970720:A:G | C1360R | 0.999 |
| 3:124973808:A:G | W1307R | 0.999 |
| 3:124973808:A:T | W1307R | 0.999 |
| 3:124990795:C:G | C1242S | 0.999 |
| 3:124990796:A:T | C1242S | 0.999 |
| 3:124990816:A:C | F1235C | 0.999 |
| 3:124990822:C:G | C1233S | 0.999 |
| 3:124990822:C:T | C1233Y | 0.999 |
| 3:124990823:A:G | C1233R | 0.999 |
| 3:124990823:A:T | C1233S | 0.999 |
| 3:124990949:G:C | C1230W | 0.999 |
| 3:124990950:C:G | C1230S | 0.999 |
| 3:124990950:C:T | C1230Y | 0.999 |
| 3:124990951:A:G | C1230R | 0.999 |
| 3:124990951:A:T | C1230S | 0.999 |
| 3:124990982:A:C | C1219W | 0.999 |
| 3:124990983:C:A | C1219F | 0.999 |
| 3:124990984:A:G | C1219R | 0.999 |
| 3:124997694:C:G | C1216S | 0.999 |
| 3:124997695:A:G | C1216R | 0.999 |
| 3:124997695:A:T | C1216S | 0.999 |
| 3:124997721:A:C | F1207C | 0.999 |
| 3:124997736:C:G | C1202S | 0.999 |
| 3:124997737:A:G | C1202R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000026269 (3:125031395 T>C), RS1000067244 (3:124988184 A>C), RS1000096236 (3:125032726 A>T), RS1000120483 (3:125055300 T>A,C), RS1000173451 (3:125055158 T>A), RS1000203711 (3:125007370 T>A), RS1000265116 (3:125055820 GGCA>G,GGCAGCA), RS1000272629 (3:125015174 T>C), RS1000277785 (3:125037746 G>A), RS1000288939 (3:124971303 G>A,T), RS1000290739 (3:125038250 CCTCG>C), RS1000290971 (3:124994595 T>A), RS1000300286 (3:125056090 C>T), RS1000330652 (3:125001481 A>C), RS1000370570 (3:125044469 T>C)
Disease associations
OMIM: gene MIM:614182 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010083_122 | Hemoglobin levels | 3.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004509 | hemoglobin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
60 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Estradiol | increases reaction, affects cotreatment, decreases expression, increases expression | 4 |
| sodium arsenite | affects cotreatment, increases abundance, decreases expression | 3 |
| Aflatoxin B1 | affects expression, increases expression, increases methylation | 3 |
| Particulate Matter | decreases expression, increases abundance | 3 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| belinostat | decreases expression, affects cotreatment | 2 |
| Panobinostat | affects cotreatment, decreases expression | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Nickel | increases expression | 2 |
| Tamoxifen | affects expression, affects cotreatment, increases expression, decreases expression | 2 |
| Tobacco Smoke Pollution | decreases expression | 2 |
| Valproic Acid | increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| Raloxifene Hydrochloride | affects expression, affects cotreatment, increases expression, decreases expression | 2 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| hydroxyhydroquinone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | affects cotreatment, increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| manganese chloride | increases abundance, affects cotreatment, decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| lead chloride | increases expression, affects cotreatment | 1 |
| cadmium sulfate | affects cotreatment, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| avobenzone | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 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.