AFM
gene geneOn this page
Also known as ALB2ALBA
Summary
AFM (afamin, HGNC:316) is a protein-coding gene on chromosome 4q13.3, encoding Afamin (P43652). Functions as a carrier for hydrophobic molecules in body fluids.
This gene is a member of the albumin gene family, which is comprised of four genes that localize to chromosome 4 in a tandem arrangement. These four genes encode structurally-related serum transport proteins that are known to be evolutionarily related. The protein encoded by this gene is regulated developmentally, expressed in the liver and secreted into the bloodstream.
Source: NCBI Gene 173 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 105 total
- MANE Select transcript:
NM_001133
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:316 |
| Approved symbol | AFM |
| Name | afamin |
| Location | 4q13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ALB2, ALBA |
| Ensembl gene | ENSG00000079557 |
| Ensembl biotype | protein_coding |
| OMIM | 104145 |
| Entrez | 173 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 17 protein_coding, 1 retained_intron
ENST00000226355, ENST00000505794, ENST00000853600, ENST00000853601, ENST00000853602, ENST00000853603, ENST00000853604, ENST00000853605, ENST00000853606, ENST00000853607, ENST00000853608, ENST00000853609, ENST00000853610, ENST00000853611, ENST00000853612, ENST00000853613, ENST00000853614, ENST00000853615
RefSeq mRNA: 1 — MANE Select: NM_001133
NM_001133
CCDS: CCDS3557
Canonical transcript exons
ENST00000226355 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000721769 | 73483941 | 73483989 |
| ENSE00000721773 | 73484258 | 73484390 |
| ENSE00000721776 | 73485862 | 73486073 |
| ENSE00000721779 | 73486967 | 73487099 |
| ENSE00000721781 | 73487724 | 73487821 |
| ENSE00000721784 | 73488630 | 73488759 |
| ENSE00000721786 | 73491872 | 73492086 |
| ENSE00000721789 | 73495300 | 73495432 |
| ENSE00000721833 | 73499114 | 73499246 |
| ENSE00000721836 | 73500004 | 73500227 |
| ENSE00000721839 | 73501787 | 73501919 |
| ENSE00000851046 | 73481745 | 73481863 |
| ENSE00001309148 | 73503050 | 73503110 |
| ENSE00001330731 | 73503876 | 73504001 |
| ENSE00003500183 | 73497652 | 73497749 |
Expression profiles
Bgee: expression breadth broad, 73 present calls, max score 99.02.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.8976 / max 845.6471, expressed in 23 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 48151 | 1.8976 | 23 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 99.02 | gold quality |
| liver | UBERON:0002107 | 96.35 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.05 | gold quality |
| nephron tubule | UBERON:0001231 | 82.84 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 80.84 | gold quality |
| kidney epithelium | UBERON:0004819 | 78.15 | gold quality |
| kidney | UBERON:0002113 | 75.84 | gold quality |
| renal glomerulus | UBERON:0000074 | 73.80 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 73.65 | gold quality |
| cortex of kidney | UBERON:0001225 | 69.46 | gold quality |
| metanephros | UBERON:0000081 | 64.52 | gold quality |
| tibialis anterior | UBERON:0001385 | 58.65 | silver quality |
| adult organism | UBERON:0007023 | 57.24 | gold quality |
| metanephros cortex | UBERON:0010533 | 56.66 | gold quality |
| decidua | UBERON:0002450 | 56.55 | gold quality |
| renal medulla | UBERON:0000362 | 54.36 | silver quality |
| ileal mucosa | UBERON:0000331 | 52.56 | gold quality |
| hair follicle | UBERON:0002073 | 52.43 | gold quality |
| pancreatic ductal cell | CL:0002079 | 52.28 | silver quality |
| cerebellar vermis | UBERON:0004720 | 51.73 | gold quality |
| quadriceps femoris | UBERON:0001377 | 50.73 | gold quality |
| frontal pole | UBERON:0002795 | 50.41 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 50.30 | gold quality |
| paraflocculus | UBERON:0005351 | 50.18 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 50.18 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 49.86 | gold quality |
| thymus | UBERON:0002370 | 49.50 | gold quality |
| vastus lateralis | UBERON:0001379 | 49.45 | gold quality |
| fundus of stomach | UBERON:0001160 | 49.35 | gold quality |
| skin of hip | UBERON:0001554 | 49.34 | silver quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-135 | yes | 3318.84 |
| E-CURD-119 | yes | 65.75 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTCF, HNF1A, HNF1B, SP3, TBP, TBPL2
miRNA regulators (miRDB)
13 targeting AFM, 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-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-4645-3P | 99.76 | 69.33 | 993 |
| HSA-MIR-7156-5P | 99.64 | 68.81 | 1369 |
| HSA-MIR-4273 | 99.45 | 67.93 | 1206 |
| HSA-MIR-6739-3P | 99.22 | 68.84 | 1843 |
| HSA-MIR-935 | 98.82 | 69.36 | 1072 |
| HSA-MIR-501-5P | 98.77 | 68.88 | 1328 |
| HSA-MIR-4297 | 98.77 | 66.95 | 2013 |
| HSA-MIR-197-3P | 98.09 | 69.23 | 1004 |
| HSA-MIR-3664-3P | 97.85 | 67.62 | 1452 |
| HSA-MIR-125A-3P | 97.04 | 66.92 | 902 |
Literature-anchored findings (GeneRIF, showing 22)
- Binding of bilirubin with human serum albumin was studied by absorption, fluorescence and CD spectroscopy (PMID:12063119)
- The protein structure of afamin has been determined by homology modeling and its in vitro binding properties confirmed by docking calculations on the proposed structure. (PMID:12463752)
- vitamin E-binding properties were confirmed; found abundant presence of this protein in plasma, extravascular fluids such as follicular, and cerebrospinal fluids (PMID:15952736)
- afamin might be a new family member of binding/transport proteins contributing to alpha-tocopherol homeostasis at the blood-brain barrier (PMID:19046407)
- Reduced Afamin expression is associated with ovarian cancer. (PMID:19336561)
- Afamin levels were altered significantly in the peritoneal fluid of women with endometriosis compared with disease-free controls. (PMID:20858448)
- A linear increase in afamin during pregnancy may serve as basic reference for subsequent investigations of afamin in pregnancy-related disorders. (PMID:24768783)
- Data suggest that up-regulation of AFM levels in serum in women with polycystic ovary syndrome can be used as a biological markers of those women with increased risk of developing metabolic syndrome, especially those with insulin resistance. (PMID:25208973)
- Results provide evidence that afamin could promote glycometabolism by up-regulating the glucose metabolism key enzymes in papillary thyroid carcinoma. (PMID:27329154)
- Afamin binds palmitoylated serine 209 of Wnt3a, providing a structural basis how afamin solubilizes hydrophobic and poorly soluble Wnt proteins. (PMID:29153507)
- The results showed significantly higher serum afamin levels in women with pre-eclampsia and gestational diabetes mellitus compared to healthy pregnant women. (PMID:29405972)
- Serum afamin concentrations are elevated in the first trimester among patients developing preeclampsia later in pregnancy compared to controls (PMID:30220025)
- LDL apheresis moderately decreases the circulating levels of afamin parallel to lowering HDL-C and ApoA1 levels. (PMID:30247793)
- The concentration of afamin decreases with the severity of alcoholic liver cirrhosis. (PMID:30260179)
- Seminal Plasma and Serum Afamin Levels Are Associated with Infertility in Men with Oligoasthenoteratozoospermia. (PMID:33409873)
- Identification and Validation of Combination Plasma Biomarker of Afamin, Fibronectin and Sex Hormone-Binding Globulin to Predict Pre-eclampsia. (PMID:34078812)
- Novel metabolic marker Afamin: A predictive factor for Large-for-Gestational-Age (LGA) fetus estimation in pregnancies with gestational diabetes mellitus? (PMID:34365029)
- Serum Afamin a Novel Marker of Increased Hepatic Lipid Content. (PMID:34603196)
- Afamin Levels and Their Correlation with Oxidative and Lipid Parameters in Non-diabetic, Obese Patients. (PMID:35053264)
- AFM negatively regulates the infiltration of monocytes to mediate sepsis-associated acute kidney injury. (PMID:36793712)
- Investigation of serum afamin concentration in pregnant women diagnosed with late fetal growth restriction or small for gestational age fetus. (PMID:37518071)
- Comparison of Afamin Values in Umbilical Cord Blood After Delivery in Pregnancies With and Without Gestational Diabetes Mellitus. (PMID:38189115)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Afm | ENSMUSG00000029369 |
| rattus_norvegicus | Afm | ENSRNOG00000002878 |
Paralogs (3): AFP (ENSG00000081051), GC (ENSG00000145321), ALB (ENSG00000163631)
Protein
Protein identifiers
Afamin — P43652 (reviewed: P43652)
Alternative names: Alpha-albumin
All UniProt accessions (1): P43652
UniProt curated annotations — full annotation on UniProt →
Function. Functions as a carrier for hydrophobic molecules in body fluids. Essential for the solubility and activity of lipidated Wnt family members, including WNT1, WNT2B, WNT3, WNT3A, WNT5A, WNT7A, WNT7B, WNT8, WNT9A, WNT9B, WNT10A and WNT10B. Binds vitamin E. May transport vitamin E in body fluids under conditions where the lipoprotein system is not sufficient. May be involved in the transport of vitamin E across the blood-brain barrier.
Subunit / interactions. Forms a 1:1 complex with Wnt family members; interacts with WNT1, WNT2B, WNT3, WNT3A, WNT5A, WNT7A, WNT7B, WNT8, WNT9A, WNT9B, WNT10A and WNT10B.
Subcellular location. Secreted.
Tissue specificity. High level detected in plasma but also in extravascular fluids such as follicular and cerebrospinal fluids (at protein level).
Post-translational modifications. N-glycosylated; more than 90% of the glycans are sialylated.
Domain organisation. The second albumin domain forms a deep binding pocket that contains palmitoleic acid (in vitro). Palmitoleic acid is most likely not the physiological ligand. Instead, this pocket may accomodate the covalently bound lipid moiety of Wnt family members.
Similarity. Belongs to the ALB/AFP/VDB family.
RefSeq proteins (1): NP_001124* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000264 | ALB/AFP/VDB | Family |
| IPR014760 | Serum_albumin_N | Domain |
| IPR020857 | Serum_albumin_CS | Conserved_site |
| IPR020858 | Serum_albumin-like | Homologous_superfamily |
| IPR021177 | Serum_albumin/AFP/Afamin | Family |
Pfam: PF00273
UniProt features (69 total): helix 31, disulfide bond 17, glycosylation site 5, turn 5, domain 3, strand 3, sequence variant 2, signal peptide 1, chain 1, region of interest 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6FAK | X-RAY DIFFRACTION | 1.9 |
| 5OKL | X-RAY DIFFRACTION | 2.09 |
| 6RQ7 | X-RAY DIFFRACTION | 2.69 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P43652-F1 | 90.47 | 0.77 |
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 (17): 77–86, 99–114, 113–124, 148–193, 192–201, 224–270, 269–277, 289–303, 302–313, 340–385, 384–393, 416–462, 461–470, 483–499, 498–509, 536–581, 580–589
Glycosylation sites (5): 488, 33, 109, 383, 402
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 72 (showing top):
HNF1_Q6, chr4q13, CAIRO_HEPATOBLASTOMA_CLASSES_DN, BLALOCK_ALZHEIMERS_DISEASE_UP, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_PROTEIN_STABILIZATION, HSIAO_LIVER_SPECIFIC_GENES, MODULE_99, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOBP_REGULATION_OF_PROTEIN_STABILITY, GOBP_VITAMIN_TRANSPORT, HNF1_C, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, HNF1_01, CHIANG_LIVER_CANCER_SUBCLASS_PROLIFERATION_DN
GO Biological Process (5): response to nutrient levels (GO:0031667), protein stabilization (GO:0050821), vitamin transport (GO:0051180), protein transport within extracellular region (GO:0071693), protein transport (GO:0015031)
GO Molecular Function (2): vitamin E binding (GO:0008431), protein binding (GO:0005515)
GO Cellular Component (4): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), extracellular exosome (GO:0070062), blood microparticle (GO:0072562)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transport | 2 |
| cellular anatomical structure | 2 |
| response to stimulus | 1 |
| regulation of protein stability | 1 |
| protein transport | 1 |
| establishment of protein localization to extracellular region | 1 |
| protein localization to extracellular region | 1 |
| intracellular protein localization | 1 |
| establishment of protein localization | 1 |
| vitamin binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| extracellular vesicle | 1 |
| extracellular region | 1 |
Protein interactions and networks
STRING
904 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AFM | CP | P00450 | 681 |
| AFM | ICAM1 | P05362 | 634 |
| AFM | WNT3A | P56704 | 600 |
| AFM | ZBTB20 | Q9HC78 | 566 |
| AFM | SERPIND1 | P05546 | 546 |
| AFM | F2 | P00734 | 544 |
| AFM | A1BG | P04217 | 533 |
| AFM | ZHX2 | Q9Y6X8 | 518 |
| AFM | CFI | P05156 | 512 |
| AFM | C4A | P01028 | 509 |
| AFM | C4A | P01028 | 508 |
| AFM | PGLYRP2 | Q96PD5 | 508 |
| AFM | LRG1 | P02750 | 487 |
| AFM | ADIPOQ | Q15848 | 485 |
| AFM | APOC3 | P02656 | 479 |
| AFM | AHSG | P02765 | 479 |
IntAct
28 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRADD | TNF | psi-mi:“MI:0914”(association) | 0.790 |
| AFM | Wnt3a | psi-mi:“MI:0915”(physical association) | 0.600 |
| Wnt3a | AFM | psi-mi:“MI:0915”(physical association) | 0.600 |
| Wnt3a | AFM | psi-mi:“MI:0407”(direct interaction) | 0.600 |
| WNT3 | AFM | psi-mi:“MI:0915”(physical association) | 0.540 |
| WNT3 | AFM | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| AFM | POTEI | psi-mi:“MI:0914”(association) | 0.530 |
| WNT1 | AFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| WNT2B | AFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| WNT3A | AFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| WNT5A | AFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| WNT7A | AFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| WNT7B | AFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| WNT8A | AFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| WNT9A | AFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| WNT9B | AFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| WNT10A | AFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| WNT10B | AFM | psi-mi:“MI:0915”(physical association) | 0.400 |
| LECT2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| AFM | PRMT8 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TNFAIP3 | FZD7 | psi-mi:“MI:0914”(association) | 0.350 |
| P | psi-mi:“MI:0914”(association) | 0.350 | |
| KLK10 | IGLL5 | psi-mi:“MI:0914”(association) | 0.350 |
| INSR | BLTP3B | psi-mi:“MI:0914”(association) | 0.350 |
| TRIM55 | AFM | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (16): AFM (Affinity Capture-MS), POTEI (Affinity Capture-MS), GBP1 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), AFM (Affinity Capture-MS), AFM (Affinity Capture-MS), AFM (Two-hybrid), ACTA2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), GBP1 (Affinity Capture-MS), POTEI (Affinity Capture-MS), PRMT8 (Affinity Capture-MS), AFM (Affinity Capture-MS), BIVM (Cross-Linking-MS (XL-MS))
ESM2 similar proteins: A2V9Z4, A6YF56, G3MYZ3, O01454, O35090, O89020, P02768, P02769, P02770, P02771, P02772, P02773, P02774, P04276, P07724, P08759, P08835, P14639, P14872, P19121, P21614, P21847, P21848, P28050, P35747, P36953, P43652, P49064, P49065, P49066, P49822, P53789, P83632, P84407, Q03156, Q17077, Q25513, Q27388, Q28522, Q28789
Diamond homologs: A2V9Z4, A6YF56, G3MYZ3, O35090, O89020, P02768, P02769, P02770, P02771, P02772, P02773, P07724, P08759, P08835, P14639, P14872, P19121, P21847, P28050, P35747, P36953, P43652, P49064, P49065, P49066, P49822, P81188, P84407, P85295, Q28522, Q28789, Q3SZ57, Q3T478, Q5NVH5, Q5XLE4, Q8MJ76, Q8MJU5, P83517, P21848, Q03156
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 26 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 |
|---|---|---|---|
| WNT ligand biogenesis and trafficking | 12 | 282.0× | 2e-27 |
| Class B/2 (Secretin family receptors) | 13 | 137.5× | 1e-25 |
| TCF dependent signaling in response to WNT | 6 | 39.2× | 1e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| cell fate commitment | 12 | 147.8× | 1e-21 |
| Wnt signaling pathway, planar cell polarity pathway | 5 | 94.9× | 2e-07 |
| cellular response to retinoic acid | 9 | 87.8× | 5e-14 |
| canonical Wnt signaling pathway | 13 | 83.0× | 1e-20 |
| negative regulation of fat cell differentiation | 5 | 65.0× | 8e-07 |
| neuron differentiation | 13 | 54.3× | 3e-18 |
| positive regulation of JNK cascade | 5 | 34.1× | 1e-05 |
| positive regulation of gene expression | 6 | 9.7× | 5e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
105 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 100 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2827 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:73484386:TACCT:T | donor_gain | 1.0000 |
| 4:73484388:CCT:C | donor_gain | 1.0000 |
| 4:73484389:CT:C | donor_gain | 1.0000 |
| 4:73484389:CTGTA:C | donor_loss | 1.0000 |
| 4:73484391:G:GG | donor_gain | 1.0000 |
| 4:73484391:G:T | donor_loss | 1.0000 |
| 4:73484392:TAAG:T | donor_loss | 1.0000 |
| 4:73486039:GCT:G | donor_gain | 1.0000 |
| 4:73486046:A:T | donor_gain | 1.0000 |
| 4:73487098:GG:G | donor_gain | 1.0000 |
| 4:73487099:GG:G | donor_gain | 1.0000 |
| 4:73492084:G:GT | donor_gain | 1.0000 |
| 4:73492087:G:GG | donor_gain | 1.0000 |
| 4:73497703:GAAT:G | donor_gain | 1.0000 |
| 4:73497704:A:T | donor_gain | 1.0000 |
| 4:73497729:G:GT | donor_gain | 1.0000 |
| 4:73497729:G:T | donor_gain | 1.0000 |
| 4:73497733:G:GT | donor_gain | 1.0000 |
| 4:73497750:G:GG | donor_gain | 1.0000 |
| 4:73499214:C:G | donor_gain | 1.0000 |
| 4:73501784:CA:C | acceptor_loss | 1.0000 |
| 4:73501785:A:C | acceptor_loss | 1.0000 |
| 4:73503037:T:G | acceptor_gain | 1.0000 |
| 4:73483990:G:GG | donor_gain | 0.9900 |
| 4:73484256:A:AG | acceptor_gain | 0.9900 |
| 4:73484257:G:GA | acceptor_gain | 0.9900 |
| 4:73484257:GCACC:G | acceptor_gain | 0.9900 |
| 4:73484387:ACCT:A | donor_gain | 0.9900 |
| 4:73484393:A:AG | donor_loss | 0.9900 |
| 4:73484394:AGTA:A | donor_loss | 0.9900 |
AlphaMissense
4032 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:73491893:T:A | C289S | 0.959 |
| 4:73491894:G:C | C289S | 0.959 |
| 4:73485978:G:C | K129N | 0.955 |
| 4:73485978:G:T | K129N | 0.955 |
| 4:73491965:T:A | C313S | 0.953 |
| 4:73491966:G:C | C313S | 0.953 |
| 4:73486984:C:A | A167D | 0.951 |
| 4:73487796:T:C | F230L | 0.951 |
| 4:73487798:T:A | F230L | 0.951 |
| 4:73487798:T:G | F230L | 0.951 |
| 4:73485928:T:A | C113S | 0.948 |
| 4:73485929:G:C | C113S | 0.948 |
| 4:73488646:A:C | S244R | 0.945 |
| 4:73488648:T:A | S244R | 0.945 |
| 4:73488648:T:G | S244R | 0.945 |
| 4:73491893:T:C | C289R | 0.945 |
| 4:73500028:T:A | C483S | 0.945 |
| 4:73500029:G:C | C483S | 0.945 |
| 4:73487778:T:A | C224S | 0.944 |
| 4:73487779:G:C | C224S | 0.944 |
| 4:73486983:G:C | A167P | 0.942 |
| 4:73491965:T:C | C313R | 0.941 |
| 4:73485886:T:A | C99S | 0.939 |
| 4:73485887:G:C | C99S | 0.939 |
| 4:73488745:T:C | C277R | 0.936 |
| 4:73485961:T:A | C124S | 0.931 |
| 4:73485962:G:C | C124S | 0.931 |
| 4:73485928:T:C | C113R | 0.930 |
| 4:73500076:T:A | C499S | 0.930 |
| 4:73500077:G:C | C499S | 0.930 |
dbSNP variants (sampled 300 via entrez): RS1000247285 (4:73500548 A>T), RS1000425949 (4:73481731 T>C), RS1000446180 (4:73482951 C>T), RS1000456895 (4:73481934 T>C), RS1000594009 (4:73487175 T>C), RS1000702745 (4:73492942 G>C), RS1000767776 (4:73487472 G>A), RS1000814035 (4:73488876 A>C), RS1000929651 (4:73489073 C>G), RS1001124262 (4:73499367 G>T), RS1001213116 (4:73498299 T>G), RS1001374106 (4:73488498 T>A), RS1001442264 (4:73482497 C>T), RS1001540063 (4:73495442 A>G), RS1001888099 (4:73482130 A>C,T)
Disease associations
OMIM: gene MIM:104145 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001942_8 | Prostate cancer | 5.000000e-13 |
| GCST005096_7 | Iris color (b* coordinate) | 4.000000e-07 |
| GCST006585_263 | Blood protein levels | 3.000000e-14 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003949 | eye color |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Aflatoxin B1 | affects expression, decreases expression, decreases methylation | 3 |
| perfluorooctane sulfonic acid | decreases expression | 2 |
| Acetaminophen | affects cotreatment, decreases expression | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Tetrachlorodibenzodioxin | affects cotreatment, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| methyleugenol | decreases expression | 1 |
| 6-hydroxy-5-((p- sulfophenyl)azo)-2-naphthalenesulfonic acid disodium salt | affects cotreatment, decreases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| Olanzapine | affects phosphorylation | 1 |
| Rosiglitazone | decreases expression | 1 |
| Cadmium | affects binding | 1 |
| Chenodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Copper | affects binding | 1 |
| Deoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Endosulfan | affects cotreatment, decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Glycochenodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| Glycocholic Acid | affects cotreatment, decreases expression | 1 |
| Glycodeoxycholic Acid | affects cotreatment, decreases expression | 1 |
| N-Nitrosopyrrolidine | decreases expression | 1 |
| Tartrazine | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| Valproic Acid | decreases expression, decreases methylation | 1 |
| Palmitic Acid | decreases expression | 1 |
| Okadaic Acid | decreases 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.