FAM234A
gene geneOn this page
Also known as DKFZP761D0211FLJ32603
Summary
FAM234A (family with sequence similarity 234 member A, HGNC:14163) is a protein-coding gene on chromosome 16p13.3, encoding Protein FAM234A (Q9H0X4).
Located in cell surface.
Source: NCBI Gene 83986 — RefSeq curated summary.
At a glance
- GWAS associations: 45
- Clinical variants (ClinVar): 165 total
- MANE Select transcript:
NM_032039
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14163 |
| Approved symbol | FAM234A |
| Name | family with sequence similarity 234 member A |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP761D0211, FLJ32603 |
| Ensembl gene | ENSG00000167930 |
| Ensembl biotype | protein_coding |
| Entrez | 83986 |
Gene structure
Transcript identifiers
Ensembl transcripts: 105 — 98 protein_coding, 5 nonsense_mediated_decay, 2 retained_intron
ENST00000301678, ENST00000301679, ENST00000399932, ENST00000417499, ENST00000419173, ENST00000420046, ENST00000420500, ENST00000421000, ENST00000424016, ENST00000426695, ENST00000438220, ENST00000447499, ENST00000449945, ENST00000453430, ENST00000468354, ENST00000496874, ENST00000600536, ENST00000653392, ENST00000654053, ENST00000659283, ENST00000666018, ENST00000872365, ENST00000872366, ENST00000872367, ENST00000872368, ENST00000872369, ENST00000872370, ENST00000872371, ENST00000872372, ENST00000872373, ENST00000872374, ENST00000872375, ENST00000872376, ENST00000872377, ENST00000872378, ENST00000872379, ENST00000872380, ENST00000872381, ENST00000872382, ENST00000872383, ENST00000872384, ENST00000872385, ENST00000872386, ENST00000872387, ENST00000872388, ENST00000872389, ENST00000872390, ENST00000872391, ENST00000872392, ENST00000872393, ENST00000872394, ENST00000872395, ENST00000872396, ENST00000872397, ENST00000872398, ENST00000872399, ENST00000872400, ENST00000872401, ENST00000872402, ENST00000872403, ENST00000872404, ENST00000872405, ENST00000872406, ENST00000872407, ENST00000872408, ENST00000872409, ENST00000872410, ENST00000872411, ENST00000872412, ENST00000872413, ENST00000872414, ENST00000872415, ENST00000872416, ENST00000914329, ENST00000914330, ENST00000914331, ENST00000914332, ENST00000914333, ENST00000970190, ENST00000970191, ENST00000970192, ENST00000970193, ENST00000970194, ENST00000970195, ENST00000970196, ENST00000970197, ENST00000970198, ENST00000970200, ENST00000970201, ENST00000970203, ENST00000970204, ENST00000970205, ENST00000970206, ENST00000970207, ENST00000970208, ENST00000970209, ENST00000970210, ENST00000970211, ENST00000970212, ENST00000970213, ENST00000970214, ENST00000970215, ENST00000970216, ENST00000970217, ENST00000970218
RefSeq mRNA: 2 — MANE Select: NM_032039
NM_001284497, NM_032039
CCDS: CCDS10402
Canonical transcript exons
ENST00000399932 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001118465 | 249549 | 249654 |
| ENSE00001508604 | 264811 | 266096 |
| ENSE00001813573 | 234821 | 234857 |
| ENSE00003851294 | 263700 | 263775 |
| ENSE00003851507 | 259483 | 259599 |
| ENSE00003862212 | 261384 | 261514 |
| ENSE00003862241 | 264614 | 264716 |
| ENSE00003864186 | 262424 | 262553 |
| ENSE00003870458 | 263262 | 263402 |
| ENSE00003878530 | 259969 | 260160 |
| ENSE00003881314 | 262093 | 262225 |
| ENSE00003886054 | 264016 | 264171 |
| ENSE00003887845 | 254381 | 254681 |
Expression profiles
Bgee: expression breadth ubiquitous, 241 present calls, max score 97.89.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.6276 / max 124.0650, expressed in 1793 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 151873 | 11.4538 | 1785 |
| 151874 | 0.4164 | 200 |
| 151878 | 0.2975 | 58 |
| 151877 | 0.1303 | 36 |
| 151880 | 0.1008 | 40 |
| 151876 | 0.0970 | 35 |
| 151879 | 0.0923 | 36 |
| 151875 | 0.0395 | 21 |
Top tissues by expression
254 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 97.89 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 97.29 | gold quality |
| gastrocnemius | UBERON:0001388 | 97.10 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 96.76 | gold quality |
| stromal cell of endometrium | CL:0002255 | 96.47 | gold quality |
| heart left ventricle | UBERON:0002084 | 96.45 | gold quality |
| right atrium auricular region | UBERON:0006631 | 96.42 | gold quality |
| muscle of leg | UBERON:0001383 | 96.27 | gold quality |
| cardiac atrium | UBERON:0002081 | 96.16 | gold quality |
| cardiac ventricle | UBERON:0002082 | 96.14 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.14 | gold quality |
| nerve | UBERON:0001021 | 96.03 | gold quality |
| tibial nerve | UBERON:0001323 | 96.03 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 95.89 | gold quality |
| lower esophagus | UBERON:0013473 | 95.88 | gold quality |
| spinal cord | UBERON:0002240 | 95.86 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.72 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 95.70 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 95.53 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 95.44 | silver quality |
| left ventricle myocardium | UBERON:0006566 | 95.42 | silver quality |
| heart | UBERON:0000948 | 95.36 | gold quality |
| transverse colon | UBERON:0001157 | 95.11 | gold quality |
| pituitary gland | UBERON:0000007 | 95.07 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 95.01 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 94.95 | gold quality |
| popliteal artery | UBERON:0002250 | 94.91 | gold quality |
| tibial artery | UBERON:0007610 | 94.90 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 94.86 | gold quality |
| left coronary artery | UBERON:0001626 | 94.76 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-125970 | yes | 16.15 |
| E-MTAB-6142 | no | 283.78 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
64 targeting FAM234A, 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-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-124-3P | 99.89 | 73.74 | 3043 |
| HSA-MIR-506-3P | 99.89 | 73.55 | 3057 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-3663-3P | 99.84 | 70.39 | 798 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-148A-3P | 99.74 | 73.77 | 1700 |
| HSA-MIR-148B-3P | 99.74 | 73.75 | 1700 |
| HSA-MIR-152-3P | 99.74 | 73.75 | 1703 |
| HSA-MIR-6762-3P | 99.66 | 66.94 | 1188 |
| HSA-MIR-1249-5P | 99.61 | 66.55 | 2049 |
| HSA-MIR-6797-5P | 99.61 | 66.55 | 2084 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fam234a | ENSDARG00000071449 |
| mus_musculus | Fam234a | ENSMUSG00000024187 |
| rattus_norvegicus | Fam234a | ENSRNOG00000067554 |
| drosophila_melanogaster | CG3618 | FBGN0037028 |
| drosophila_melanogaster | CG6184 | FBGN0038725 |
Paralogs (1): FAM234B (ENSG00000084444)
Protein
Protein identifiers
Protein FAM234A — Q9H0X4 (reviewed: Q9H0X4)
Alternative names: Protein ITFG3
All UniProt accessions (13): B4DGG1, C9IYB9, C9J1M4, C9J3Y6, C9J8V3, C9JJN3, Q9H0X4, C9JP72, C9JR71, C9JTF7, C9K0C5, H7C2U8, H7C3L6
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Membrane.
Similarity. Belongs to the FAM234 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H0X4-1 | 1 | yes |
| Q9H0X4-2 | 2 |
RefSeq proteins (2): NP_001271426, NP_114428* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011047 | Quinoprotein_ADH-like_sf | Homologous_superfamily |
| IPR045232 | FAM234 | Family |
| IPR055409 | Beta-prop_FAM234A_B | Domain |
Pfam: PF23727
UniProt features (14 total): glycosylation site 4, topological domain 2, splice variant 2, chain 1, sequence conflict 1, transmembrane region 1, region of interest 1, compositionally biased region 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H0X4-F1 | 81.12 | 0.41 |
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): 21
Glycosylation sites (4): 473, 116, 314, 389
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 97 (showing top):
GOCC_CELL_SURFACE, GTGCCTT_MIR506, DOUGLAS_BMI1_TARGETS_DN, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, TTTGCAC_MIR19A_MIR19B, GAVIN_FOXP3_TARGETS_CLUSTER_P3, NIKOLSKY_BREAST_CANCER_16P13_AMPLICON, WILLIAMS_ESR2_TARGETS_UP, YOSHIMURA_MAPK8_TARGETS_UP, KARLSSON_TGFB1_TARGETS_DN, PANGAS_TUMOR_SUPPRESSION_BY_SMAD1_AND_SMAD5_DN, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_UP, FOXN3_TARGET_GENES, SUPT16H_TARGET_GENES, ZNF184_TARGET_GENES
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (3): cell surface (GO:0009986), membrane (GO:0016020), extracellular exosome (GO:0070062)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| binding | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
454 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FAM234A | RNF122 | Q9H9V4 | 464 |
| FAM234A | L3HYPDH | Q96EM0 | 454 |
| FAM234A | SLC4A5 | Q9BY07 | 451 |
| FAM234A | LUC7L | Q9NQ29 | 446 |
| FAM234A | KCTD18 | Q6PI47 | 438 |
| FAM234A | FGD4 | Q96M96 | 438 |
| FAM234A | HBQ1 | P09105 | 432 |
| FAM234A | APEH | P13798 | 429 |
| FAM234A | SLC43A3 | Q8NBI5 | 410 |
| FAM234A | UTP11 | Q9Y3A2 | 405 |
| FAM234A | HBA1 | P01922 | 399 |
| FAM234A | GOSR2 | O14653 | 390 |
| FAM234A | RPL26L1 | Q9UNX3 | 390 |
| FAM234A | SF3B2 | Q13435 | 386 |
| FAM234A | C5orf15 | Q8NC54 | 367 |
IntAct
72 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CD9 | ADAM10 | psi-mi:“MI:0914”(association) | 0.750 |
| KCNJ2 | KCNJ18 | psi-mi:“MI:2364”(proximity) | 0.660 |
| CD27 | TCAF2 | psi-mi:“MI:0914”(association) | 0.640 |
| STX12 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| STX7 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| SLC16A2 | FAM234A | psi-mi:“MI:0915”(physical association) | 0.560 |
| SCGB1D1 | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| XKRX | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| SLC15A4 | PGRMC1 | psi-mi:“MI:0914”(association) | 0.530 |
| HEATR3 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| VAMP5 | NBAS | psi-mi:“MI:0914”(association) | 0.530 |
| PRRT2 | NDUFB3 | psi-mi:“MI:0914”(association) | 0.530 |
| ANKH | FAM234B | psi-mi:“MI:0914”(association) | 0.530 |
| FLVCR1 | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| FAM234A | CCR4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| MME | psi-mi:“MI:0914”(association) | 0.350 | |
| STX12 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| CD81 | STX3 | psi-mi:“MI:0914”(association) | 0.350 |
| CD81 | PVR | psi-mi:“MI:0914”(association) | 0.350 |
| CD81 | CD276 | psi-mi:“MI:0914”(association) | 0.350 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| TMEM223 | psi-mi:“MI:0914”(association) | 0.350 | |
| GPRC5D | FAM234B | psi-mi:“MI:0914”(association) | 0.350 |
| VAC14 | NUDT19 | psi-mi:“MI:0914”(association) | 0.350 |
| KIR2DL4 | GPR89A | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (147): ITFG3 (Affinity Capture-MS), ITFG3 (Proximity Label-MS), ITFG3 (Affinity Capture-MS), ITFG3 (Affinity Capture-MS), ITFG3 (Affinity Capture-MS), ITFG3 (Affinity Capture-MS), ITFG3 (Proximity Label-MS), ITFG3 (Proximity Label-MS), ITFG3 (Proximity Label-MS), ITFG3 (Co-fractionation), ITFG3 (Affinity Capture-MS), ITFG3 (Affinity Capture-MS), ITFG3 (Affinity Capture-MS), ITFG3 (Proximity Label-MS), ITFG3 (Proximity Label-MS)
ESM2 similar proteins: A0A8M9PDM1, A2RU67, B8JI67, D3YX43, D3ZWJ9, E1B9E5, O08721, O08722, O60486, P35054, P35916, P35917, Q2HJE5, Q3TYX2, Q5F3L3, Q5M7W6, Q5R6F5, Q62190, Q63961, Q6AXW8, Q6NXM3, Q6P7C7, Q6PVW7, Q6ZN44, Q6ZQQ6, Q76MJ5, Q7TN88, Q80VA5, Q86XM0, Q8BYI8, Q8C0Z1, Q8CB67, Q8IZJ1, Q8K1S3, Q8K1S4, Q8N3G9, Q8TF17, Q8VI51, Q8WY21, Q91ZT1
Diamond homologs: Q2HJE5, Q5F3L3, Q5M7W6, Q8BYI8, Q8C0Z1, Q9H0X4
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 95 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 |
|---|---|---|---|
| Neutrophil degranulation | 10 | 3.9× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
165 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 115 |
| Likely benign | 21 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4918 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:249653:AG:A | donor_loss | 1.0000 |
| 16:249654:GGTA:G | donor_loss | 1.0000 |
| 16:249655:G:GG | donor_gain | 1.0000 |
| 16:259481:A:AG | acceptor_gain | 1.0000 |
| 16:259482:G:GA | acceptor_gain | 1.0000 |
| 16:259482:GTT:G | acceptor_gain | 1.0000 |
| 16:261512:G:GT | donor_gain | 1.0000 |
| 16:262092:GGTTA:G | acceptor_gain | 1.0000 |
| 16:262417:T:TA | acceptor_gain | 1.0000 |
| 16:262422:A:AG | acceptor_gain | 1.0000 |
| 16:262423:G:GG | acceptor_gain | 1.0000 |
| 16:262423:GC:G | acceptor_gain | 1.0000 |
| 16:262423:GCA:G | acceptor_gain | 1.0000 |
| 16:262423:GCAA:G | acceptor_gain | 1.0000 |
| 16:262539:G:GT | donor_gain | 1.0000 |
| 16:262550:ACAG:A | donor_loss | 1.0000 |
| 16:262551:CAGG:C | donor_loss | 1.0000 |
| 16:262554:G:C | donor_loss | 1.0000 |
| 16:262554:G:GA | donor_loss | 1.0000 |
| 16:262555:T:A | donor_loss | 1.0000 |
| 16:263694:TTCCA:T | acceptor_loss | 1.0000 |
| 16:263695:TCCAG:T | acceptor_loss | 1.0000 |
| 16:263696:CCAGA:C | acceptor_loss | 1.0000 |
| 16:263697:CAGA:C | acceptor_loss | 1.0000 |
| 16:263697:CAGAA:C | acceptor_loss | 1.0000 |
| 16:263698:A:AG | acceptor_gain | 1.0000 |
| 16:263698:A:AT | acceptor_loss | 1.0000 |
| 16:263699:G:GG | acceptor_gain | 1.0000 |
| 16:263699:G:GT | acceptor_loss | 1.0000 |
| 16:263699:GA:G | acceptor_gain | 1.0000 |
AlphaMissense
3602 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:254659:G:C | W82C | 0.990 |
| 16:254659:G:T | W82C | 0.990 |
| 16:260030:G:C | W149C | 0.990 |
| 16:260030:G:T | W149C | 0.990 |
| 16:254588:T:C | C59R | 0.982 |
| 16:264902:G:C | K513N | 0.982 |
| 16:264902:G:T | K513N | 0.982 |
| 16:254657:T:A | W82R | 0.976 |
| 16:254657:T:C | W82R | 0.976 |
| 16:260028:T:A | W149R | 0.975 |
| 16:260028:T:C | W149R | 0.975 |
| 16:261397:G:C | W197C | 0.971 |
| 16:261397:G:T | W197C | 0.971 |
| 16:259999:C:A | A139D | 0.966 |
| 16:264136:T:A | W437R | 0.966 |
| 16:264136:T:C | W437R | 0.966 |
| 16:264127:T:C | F434L | 0.964 |
| 16:264129:C:A | F434L | 0.964 |
| 16:264129:C:G | F434L | 0.964 |
| 16:259543:T:C | F110S | 0.962 |
| 16:259533:G:C | D107H | 0.956 |
| 16:264138:G:C | W437C | 0.953 |
| 16:264138:G:T | W437C | 0.953 |
| 16:264710:T:C | F481L | 0.953 |
| 16:264712:T:A | F481L | 0.953 |
| 16:264712:T:G | F481L | 0.953 |
| 16:261384:G:T | G193V | 0.950 |
| 16:261395:T:A | W197R | 0.949 |
| 16:261395:T:C | W197R | 0.949 |
| 16:254601:T:A | V63E | 0.943 |
dbSNP variants (sampled 300 via entrez): RS1000036133 (16:252854 G>A,C,T), RS1000195165 (16:264669 T>C), RS1000250465 (16:238346 C>G), RS1000299354 (16:268363 G>A), RS1000357181 (16:246027 A>G), RS1000444690 (16:267417 C>G,T), RS1000538421 (16:240598 G>A), RS1000568705 (16:260890 G>A,C), RS1000605220 (16:241726 G>A,T), RS1000795379 (16:234251 T>C), RS1000842049 (16:236925 A>G), RS1000907264 (16:254945 T>G), RS1000951616 (16:256443 C>T), RS1001039064 (16:251691 T>C,G), RS1001106998 (16:256696 A>G)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
45 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000503_16 | Mean corpuscular volume | 2.000000e-12 |
| GCST000504_7 | Mean corpuscular hemoglobin | 3.000000e-10 |
| GCST000587_1 | Mean corpuscular hemoglobin | 3.000000e-09 |
| GCST001873_10 | Red blood cell traits | 7.000000e-24 |
| GCST001873_14 | Red blood cell traits | 1.000000e-08 |
| GCST001873_15 | Red blood cell traits | 7.000000e-06 |
| GCST001873_3 | Red blood cell traits | 3.000000e-23 |
| GCST001873_5 | Red blood cell traits | 9.000000e-48 |
| GCST001873_6 | Red blood cell traits | 2.000000e-34 |
| GCST001873_8 | Red blood cell traits | 4.000000e-22 |
| GCST002027_3 | Red blood cell traits | 5.000000e-29 |
| GCST002027_4 | Red blood cell traits | 8.000000e-36 |
| GCST002027_5 | Red blood cell traits | 9.000000e-17 |
| GCST004004_45 | Mean corpuscular volume | 1.000000e-46 |
| GCST004005_10 | Hemoglobin levels | 1.000000e-08 |
| GCST004006_27 | Mean corpuscular hemoglobin | 2.000000e-21 |
| GCST004007_13 | Mean corpuscular hemoglobin concentration | 1.000000e-08 |
| GCST004008_10 | Red blood cell count | 1.000000e-08 |
| GCST004329_8 | Mean corpuscular hemoglobin concentration | 3.000000e-12 |
| GCST004332_5 | Red blood cell count | 2.000000e-13 |
| GCST004334_14 | Mean corpuscular hemoglobin | 4.000000e-42 |
| GCST004335_7 | Mean corpuscular volume | 6.000000e-30 |
| GCST004602_222 | Mean corpuscular volume | 8.000000e-09 |
| GCST004894_20 | Type 2 diabetes | 4.000000e-06 |
| GCST004894_76 | Type 2 diabetes | 1.000000e-09 |
| GCST005951_12 | Body mass index | 5.000000e-11 |
| GCST006867_131 | Type 2 diabetes | 9.000000e-10 |
| GCST006979_945 | Heel bone mineral density | 2.000000e-11 |
| GCST006979_946 | Heel bone mineral density | 8.000000e-10 |
| GCST007954_47 | Glycated hemoglobin levels | 3.000000e-14 |
EFO canonical traits (12, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004509 | hemoglobin measurement |
| EFO:0004305 | erythrocyte count |
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0004340 | body mass index |
| EFO:0009270 | heel bone mineral density |
| EFO:0004541 | HbA1c measurement |
| EFO:0004309 | platelet count |
| EFO:0004833 | neutrophil count |
| EFO:0004842 | eosinophil count |
| EFO:0005090 | basophil count |
| EFO:0005091 | monocyte count |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
19 total (human), top 19 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | increases expression | 4 |
| bisphenol A | increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| ICG 001 | decreases expression | 1 |
| jinfukang | increases expression | 1 |
| Copper | affects binding, increases expression | 1 |
| Disulfiram | affects binding, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
Clinical trials (associated diseases)
11 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast ductal adenocarcinoma