FBN3
gene geneOn this page
Also known as KIAA1776
Summary
FBN3 (fibrillin 3, HGNC:18794) is a protein-coding gene on chromosome 19p13.2, encoding Fibrillin-3 (Q75N90). Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles.
This gene encodes a memebr of the fibrillin protein family. Fibrillins are extracellular matrix molecules that assemble into microfibrils in many connective tissues. This gene is most highly expressed in fetal tissues and its protein product is localized to extracellular microfibrils of developing skeletal elements, skin, lung, kidney, and skeletal muscle. This gene is potentially involved in Weill-Marchesani syndrome.
Source: NCBI Gene 84467 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 1,691 total
- MANE Select transcript:
NM_032447
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18794 |
| Approved symbol | FBN3 |
| Name | fibrillin 3 |
| Location | 19p13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1776 |
| Ensembl gene | ENSG00000142449 |
| Ensembl biotype | protein_coding |
| OMIM | 608529 |
| Entrez | 84467 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 8 protein_coding, 3 retained_intron
ENST00000270509, ENST00000594331, ENST00000595036, ENST00000598269, ENST00000600128, ENST00000601281, ENST00000601739, ENST00000602121, ENST00000651877, ENST00000924671, ENST00000924672
RefSeq mRNA: 2 — MANE Select: NM_032447
NM_001321431, NM_032447
CCDS: CCDS12196
Canonical transcript exons
ENST00000600128 — 64 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001154879 | 8083247 | 8083372 |
| ENSE00001154898 | 8086200 | 8086325 |
| ENSE00001273064 | 8072048 | 8072198 |
| ENSE00001273072 | 8073063 | 8073297 |
| ENSE00001273078 | 8075071 | 8075190 |
| ENSE00001273087 | 8075283 | 8075411 |
| ENSE00001273094 | 8081003 | 8081119 |
| ENSE00001273103 | 8081358 | 8081480 |
| ENSE00001273116 | 8085363 | 8085569 |
| ENSE00001273134 | 8087077 | 8087211 |
| ENSE00001273173 | 8089894 | 8089959 |
| ENSE00001599701 | 8145843 | 8145938 |
| ENSE00001604615 | 8131554 | 8131829 |
| ENSE00001606436 | 8108170 | 8108238 |
| ENSE00001612369 | 8109631 | 8109753 |
| ENSE00001614229 | 8123784 | 8124008 |
| ENSE00001619216 | 8135961 | 8136086 |
| ENSE00001623407 | 8096444 | 8096569 |
| ENSE00001625511 | 8117464 | 8117589 |
| ENSE00001625968 | 8097289 | 8097414 |
| ENSE00001631744 | 8146127 | 8146225 |
| ENSE00001633301 | 8096881 | 8097006 |
| ENSE00001634023 | 8126713 | 8126832 |
| ENSE00001634540 | 8111977 | 8112099 |
| ENSE00001635662 | 8115515 | 8115640 |
| ENSE00001639955 | 8121258 | 8121386 |
| ENSE00001648959 | 8102724 | 8102873 |
| ENSE00001649604 | 8118897 | 8119022 |
| ENSE00001658867 | 8091465 | 8091590 |
| ENSE00001663237 | 8095375 | 8095503 |
| ENSE00001674064 | 8094446 | 8094565 |
| ENSE00001678797 | 8125892 | 8126017 |
| ENSE00001700653 | 8144877 | 8144972 |
| ENSE00001711653 | 8116674 | 8116799 |
| ENSE00001713592 | 8132984 | 8133106 |
| ENSE00001716869 | 8123464 | 8123589 |
| ENSE00001722416 | 8129028 | 8129153 |
| ENSE00001726109 | 8117169 | 8117291 |
| ENSE00001728923 | 8100901 | 8100972 |
| ENSE00001734041 | 8138412 | 8138564 |
| ENSE00001735594 | 8106108 | 8106233 |
| ENSE00001737736 | 8126468 | 8126605 |
| ENSE00001742920 | 8110845 | 8110967 |
| ENSE00001743873 | 8126297 | 8126347 |
| ENSE00001751018 | 8109227 | 8109388 |
| ENSE00001752225 | 8141940 | 8142137 |
| ENSE00001753717 | 8090099 | 8090251 |
| ENSE00001760361 | 8141717 | 8141842 |
| ENSE00001763913 | 8138141 | 8138323 |
| ENSE00001766499 | 8103562 | 8103687 |
| ENSE00001777763 | 8136190 | 8136309 |
| ENSE00001780766 | 8095964 | 8096080 |
| ENSE00001787967 | 8136388 | 8136531 |
| ENSE00001790671 | 8111648 | 8111770 |
| ENSE00001791395 | 8129240 | 8129365 |
| ENSE00001797648 | 8147104 | 8147186 |
| ENSE00001802000 | 8131235 | 8131288 |
| ENSE00003075325 | 8149449 | 8149592 |
| ENSE00003099017 | 8065402 | 8066260 |
| ENSE00003116328 | 8147314 | 8147497 |
| ENSE00003507119 | 8089545 | 8089670 |
| ENSE00003545327 | 8087825 | 8087947 |
| ENSE00003651061 | 8111058 | 8111183 |
| ENSE00003684208 | 8088060 | 8088179 |
Expression profiles
Bgee: expression breadth ubiquitous, 131 present calls, max score 94.50.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4336 / max 19.5608, expressed in 158 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 178930 | 0.2614 | 131 |
| 178931 | 0.1722 | 94 |
Top tissues by expression
243 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 94.50 | gold quality |
| embryo | UBERON:0000922 | 88.48 | gold quality |
| ganglionic eminence | UBERON:0004023 | 88.48 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 79.83 | gold quality |
| ventricular zone | UBERON:0003053 | 79.54 | gold quality |
| upper arm skin | UBERON:0004263 | 74.93 | gold quality |
| secondary oocyte | CL:0000655 | 74.14 | silver quality |
| vena cava | UBERON:0004087 | 73.98 | silver quality |
| myocardium | UBERON:0002349 | 73.94 | gold quality |
| nasal cavity epithelium | UBERON:0005384 | 72.80 | gold quality |
| cerebellar vermis | UBERON:0004720 | 71.83 | gold quality |
| kidney epithelium | UBERON:0004819 | 71.66 | gold quality |
| parotid gland | UBERON:0001831 | 70.35 | gold quality |
| metanephros | UBERON:0000081 | 69.76 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 69.70 | gold quality |
| metanephros cortex | UBERON:0010533 | 69.39 | gold quality |
| minor salivary gland | UBERON:0001830 | 69.36 | gold quality |
| mouth mucosa | UBERON:0003729 | 68.76 | gold quality |
| cortex of kidney | UBERON:0001225 | 67.94 | gold quality |
| pons | UBERON:0000988 | 67.84 | gold quality |
| body of tongue | UBERON:0011876 | 67.68 | gold quality |
| buccal mucosa cell | CL:0002336 | 67.48 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 67.34 | gold quality |
| cartilage tissue | UBERON:0002418 | 67.29 | gold quality |
| thyroid gland | UBERON:0002046 | 67.26 | gold quality |
| gingival epithelium | UBERON:0001949 | 67.22 | gold quality |
| heart right ventricle | UBERON:0002080 | 66.97 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 66.87 | gold quality |
| pylorus | UBERON:0001166 | 66.85 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 66.85 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.54 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
15 targeting FBN3, 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-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-377-5P | 99.70 | 65.28 | 712 |
| HSA-MIR-6086 | 99.70 | 65.38 | 699 |
| HSA-MIR-378A-5P | 99.65 | 66.33 | 1311 |
| HSA-MIR-7109-5P | 99.18 | 66.13 | 1057 |
| HSA-MIR-328-5P | 99.08 | 64.65 | 1000 |
| HSA-MIR-143-5P | 98.98 | 68.87 | 946 |
| HSA-MIR-6885-5P | 98.71 | 64.33 | 902 |
| HSA-MIR-4700-5P | 98.63 | 67.43 | 1915 |
| HSA-MIR-6887-5P | 98.56 | 68.49 | 1295 |
| HSA-MIR-6795-5P | 98.52 | 68.51 | 1277 |
| HSA-MIR-4435 | 95.90 | 65.47 | 1201 |
Literature-anchored findings (GeneRIF, showing 11)
- fibrillin-3 gene showed the strongest evidence for association with Polycystic ovary syndrome (PMID:17785364)
- Data show that fibrillin 3 appears to have little involvement in PCOS but cannot rule out that other markers in the region of chromosome 19p13.2 are associated with PCOS or that FBN3 expression occurs in other organs that may influence the PCOS phenotype. (PMID:19692420)
- Single nucleotide polymorphisms in FBN3 occur and may be a candidate gene for polycystic ovary syndrome. (PMID:20200332)
- A variant in the fibrillin-3 gene is associated with TGF-beta and inhibin B levels in women with polycystic ovary syndrome. (PMID:20630504)
- Loss of fibrillin-3 during folliculogenesis may be an important factor in polycystic ovary syndrome pathogenesis. (PMID:20855553)
- fibrillin-3, compared to the other fibrillins, fulfills both overlapping and distinct functions in human development (PMID:20970500)
- Data show that TGF-beta pathways operate during ovarian fetal development, and fibrillin 3 is highly expressed at a critical stage early in developing human and bovine fetal ovaries. (PMID:21411746)
- The FBN3 risk allele may be associated with changes in basal glucose homeostasis in PCOS. (PMID:22301903)
- an association study showed a potential association of the D19S884 marker with PCOS in Chinese Han women and the meta-analysis identified that the A8 allele may increase susceptibility to PCOS (PMID:23265956)
- Further delineation of familial polycystic ovary syndrome (PCOS) via whole-exome sequencing: PCOS-related rare FBN3 and FN1 gene variants are identified. (PMID:35141985)
- Genetic Insights into Skeletal Malocclusion: The Role of the FBN3 rs7351083 SNP in the Romanian Population. (PMID:39064490)
Cross-species orthologs
1 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | fbn2b | ENSDARG00000098237 |
Paralogs (2): FBN2 (ENSG00000138829), FBN1 (ENSG00000166147)
Protein
Protein identifiers
Fibrillin-3 — Q75N90 (reviewed: Q75N90)
All UniProt accessions (4): Q75N90, A0A494C0D8, M0QXL8, M0R2Q5
UniProt curated annotations — full annotation on UniProt →
Function. Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-containing microfibrils provide long-term force bearing structural support.
Subcellular location. Secreted. Extracellular space. Extracellular matrix.
Tissue specificity. Predominantly expressed in connective tissues such as skeletal muscle, tendon, skin, perichondrium and periosteum. Highly expressed in fetal lung, brain, kidney. Expressed at low level in prostate, testis, mammary gland, uterus, ovary, placenta, bladder, adrenal gland, thyroid, fetal thymus, fetal liver, liver, fetal heart and heart.
Post-translational modifications. Probably forms intermolecular disulfide bonds either with other FBN3 molecules or with other components of the microfibrils.
Similarity. Belongs to the fibrillin family.
RefSeq proteins (2): NP_001308360, NP_115823* (*=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 |
| IPR009030 | Growth_fac_rcpt_cys_sf | Homologous_superfamily |
| IPR013032 | EGF-like_CS | Conserved_site |
| IPR017878 | TB_dom | Domain |
| IPR018097 | EGF_Ca-bd_CS | Conserved_site |
| IPR024731 | NELL2-like_EGF | Domain |
| IPR026823 | cEGF | Domain |
| IPR036773 | TB_dom_sf | Homologous_superfamily |
| IPR040872 | Fibrillin_U_N | Domain |
| IPR049388 | FBN_EGF_N | Domain |
| IPR049883 | NOTCH1_EGF-like | Domain |
| IPR052080 | vWF_C/EGF_Fibrillin | Family |
Pfam: PF00683, PF07645, PF12661, PF12662, PF12947, PF18193, PF21364
UniProt features (229 total): disulfide bond 132, domain 53, sequence variant 30, glycosylation site 10, chain 2, signal peptide 1, propeptide 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
No AlphaFold model available for Q75N90 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.
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 (132): 990–1002, 997–1011, 1013–1026, 1032–1044, 1039–1053, 1055–1069, 1075–1087, 1082–1096, 1098–1111, 1117–1129, 1124–1138, 1140–1153, 1159–1170, 1166–1179, 1181–1194, 1200–1212, 1207–1221, 1223–1236, 1242–1254, 1249–1263 …
Glycosylation sites (10): 406, 1025, 1442, 1538, 1627, 1658, 1668, 1858, 2033, 2713
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-1474228 | Degradation of the extracellular matrix |
| R-HSA-1566948 | Elastic fibre formation |
| R-HSA-2129379 | Molecules associated with elastic fibres |
MSigDB gene sets: 77 (showing top):
MODULE_511, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EMBRYONIC_ORGAN_MORPHOGENESIS, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_GLUCOSE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_HOMEOSTASIS, MODULE_544, DOUGLAS_BMI1_TARGETS_UP, GOBP_EMBRYO_DEVELOPMENT, GOBP_EMBRYONIC_EYE_MORPHOGENESIS, GOBP_SENSORY_ORGAN_DEVELOPMENT, GOBP_SENSORY_ORGAN_MORPHOGENESIS, GOBP_MONOSACCHARIDE_METABOLIC_PROCESS, GOMF_SIGNALING_RECEPTOR_BINDING
GO Biological Process (5): glucose metabolic process (GO:0006006), glucose homeostasis (GO:0042593), camera-type eye development (GO:0043010), embryonic eye morphogenesis (GO:0048048), signal transduction (GO:0007165)
GO Molecular Function (4): hormone activity (GO:0005179), extracellular matrix structural constituent (GO:0005201), calcium ion binding (GO:0005509), extracellular matrix constituent conferring elasticity (GO:0030023)
GO Cellular Component (3): microfibril (GO:0001527), extracellular region (GO:0005576), extracellular matrix (GO:0031012)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Extracellular matrix organization | 2 |
| Elastic fibre formation | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| hexose metabolic process | 1 |
| carbohydrate homeostasis | 1 |
| eye development | 1 |
| embryonic organ morphogenesis | 1 |
| eye morphogenesis | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| receptor ligand activity | 1 |
| structural molecule activity | 1 |
| extracellular matrix | 1 |
| metal ion binding | 1 |
| extracellular matrix structural constituent | 1 |
| structural molecule activity conferring elasticity | 1 |
| elastic fiber | 1 |
| supramolecular fiber | 1 |
| cellular anatomical structure | 1 |
| external encapsulating structure | 1 |
Protein interactions and networks
STRING
1575 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| FBN3 | CCL25 | O15444 | 698 |
| FBN3 | CAPN10 | Q9HC96 | 690 |
| FBN3 | SRD5A1 | P18405 | 672 |
| FBN3 | SULT2A1 | Q06520 | 649 |
| FBN3 | DENND1A | Q8TEH3 | 624 |
| FBN3 | INSR | P06213 | 596 |
| FBN3 | H6PD | O95479 | 582 |
| FBN3 | SRD5A2 | P31213 | 573 |
| FBN3 | KRR1 | Q13601 | 571 |
| FBN3 | FST | P19883 | 570 |
| FBN3 | CYP11A1 | P05108 | 547 |
| FBN3 | CYP17A1 | P05093 | 538 |
| FBN3 | SUOX | P51687 | 525 |
| FBN3 | BBS10 | Q8TAM1 | 523 |
| FBN3 | HSD11B1 | P28845 | 507 |
IntAct
16 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FN1 | FBN3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FBN3 | ANXA7 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FBN3 | BID | psi-mi:“MI:0915”(physical association) | 0.370 |
| SMAP | FBN3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FBN3 | CDKN1A | psi-mi:“MI:0915”(physical association) | 0.370 |
| FBN3 | DAZAP2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FBN3 | GADD45A | psi-mi:“MI:0915”(physical association) | 0.370 |
| GSK3B | FBN3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NUDT21 | FBN3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FBN3 | PIK3R3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RPN2 | FBN3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RPS6KA6 | FBN3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FBN3 | TK1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TSC22D1 | FBN3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| FBN3 | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (16): FBN3 (Affinity Capture-MS), FBN3 (Affinity Capture-MS), FBN3 (Cross-Linking-MS (XL-MS)), FBN3 (Two-hybrid), FBN3 (Two-hybrid), FBN3 (Two-hybrid), FBN3 (Two-hybrid), FBN3 (Two-hybrid), FBN3 (Two-hybrid), FBN3 (Two-hybrid), FBN3 (Two-hybrid), FBN3 (Two-hybrid), FBN3 (Two-hybrid), FBN3 (Two-hybrid), FBN3 (Two-hybrid)
ESM2 similar proteins: A0A0R4IKU3, A1A5Y0, A2ASQ1, A2VCU8, A6QR11, O42182, O55225, P01130, P01131, P01132, P01133, P07522, P20063, P25304, P31696, P35950, P35951, P35952, P97607, Q00968, Q14393, Q28832, Q501P1, Q53RD9, Q5R3Z7, Q61220, Q61592, Q62918, Q62919, Q63772, Q66PY1, Q6ZRI0, Q75N90, Q7T3Q2, Q7ZXL5, Q8AWW5, Q8CJ69, Q8IX30, Q8N8U9, Q8R4Y4
Diamond homologs: A0A1U9VX91, A2AJ76, O08999, O43897, O57382, O57460, O75095, P13497, P35556, P98063, P98070, P98133, Q00918, Q14766, Q61555, Q62381, Q75N90, Q7KVA1, Q8C088, Q8CG19, Q8JI28, Q9DER7, Q9TV36, A1A5Y0, A2VCU8, A4IGL7, A5A8Y8, A6QR11, B5DFC9, O88322, P07996, P10493, P14585, P35441, P35448, P82279, P98118, Q14112, Q20911, Q24025
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
1691 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 930 |
| Likely benign | 485 |
| Benign | 164 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
9896 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:8068767:C:A | donor_gain | 1.0000 |
| 19:8085502:A:AC | donor_gain | 1.0000 |
| 19:8085503:C:CC | donor_gain | 1.0000 |
| 19:8086195:CTCA:C | donor_loss | 1.0000 |
| 19:8086196:TCACC:T | donor_loss | 1.0000 |
| 19:8086197:CAC:C | donor_loss | 1.0000 |
| 19:8086197:CACC:C | donor_loss | 1.0000 |
| 19:8086198:ACCGT:A | donor_loss | 1.0000 |
| 19:8086199:C:T | donor_loss | 1.0000 |
| 19:8086325:TCTGA:T | acceptor_loss | 1.0000 |
| 19:8086326:CTGAG:C | acceptor_loss | 1.0000 |
| 19:8087209:CAT:C | acceptor_gain | 1.0000 |
| 19:8087212:C:CC | acceptor_gain | 1.0000 |
| 19:8087215:C:CT | acceptor_gain | 1.0000 |
| 19:8087218:A:AC | acceptor_gain | 1.0000 |
| 19:8087223:C:CT | acceptor_gain | 1.0000 |
| 19:8089544:CCCA:C | donor_gain | 1.0000 |
| 19:8089668:CGT:C | acceptor_gain | 1.0000 |
| 19:8089671:C:CC | acceptor_gain | 1.0000 |
| 19:8089957:CAG:C | acceptor_gain | 1.0000 |
| 19:8089960:C:CC | acceptor_gain | 1.0000 |
| 19:8091459:ACTT:A | donor_loss | 1.0000 |
| 19:8091460:CTTA:C | donor_loss | 1.0000 |
| 19:8091461:TTA:T | donor_loss | 1.0000 |
| 19:8091461:TTAC:T | donor_loss | 1.0000 |
| 19:8091462:TA:T | donor_loss | 1.0000 |
| 19:8091463:A:AC | donor_gain | 1.0000 |
| 19:8091463:A:C | donor_loss | 1.0000 |
| 19:8091463:ACCAA:A | donor_loss | 1.0000 |
| 19:8091464:C:CA | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000010403 (19:8068176 G>A), RS1000077154 (19:8146435 G>A), RS1000105578 (19:8135209 C>A,G,T), RS1000108382 (19:8099237 A>G), RS1000127667 (19:8110587 C>A), RS1000158641 (19:8110318 C>G), RS1000227751 (19:8068048 G>A,C), RS1000278431 (19:8140396 G>A), RS1000319399 (19:8081196 C>T), RS1000332045 (19:8151119 G>A,C), RS1000357719 (19:8116124 G>A,C), RS1000436036 (19:8072837 G>C), RS1000447647 (19:8085645 G>C,T), RS1000464960 (19:8106023 C>G,T), RS1000502179 (19:8090938 G>T)
Disease associations
OMIM: gene MIM:608529 | disease phenotypes: MIM:277600, MIM:109730
GenCC curated gene-disease
Mondo (2): Weill-Marchesani syndrome (MONDO:0018096), aortic valve disease 1 (MONDO:0024523)
Orphanet (1): Weill-Marchesani syndrome (Orphanet:3449)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004406_2 | Neurocognitive impairment in HIV-1 infection (continuous) | 4.000000e-07 |
| GCST005650_173 | Serum metabolite ratios in chronic kidney disease | 3.000000e-13 |
| GCST006916_9 | Attention deficit hyperactivity disorder | 2.000000e-06 |
| GCST008758_77 | Pre-treatment viral load in HIV-1 infection | 2.000000e-19 |
| GCST010002_147 | Refractive error | 4.000000e-16 |
| GCST012020_52 | Serum metabolite levels | 9.000000e-27 |
| GCST012020_531 | Serum metabolite levels | 3.000000e-11 |
| GCST012020_532 | Serum metabolite levels | 2.000000e-18 |
| GCST012020_533 | Serum metabolite levels | 3.000000e-12 |
| GCST012251_3 | Macular telangiectasia type 2 | 3.000000e-07 |
| GCST012252_10 | Macular telangiectasia type 2 | 3.000000e-08 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007998 | cognitive impairment measurement |
| EFO:0010125 | viral load |
| EFO:1002009 | macular telangiectasia type 2 |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D056846 | Weill-Marchesani Syndrome | C05.116.099.343.957; C11.270.921; C16.131.077.941; C16.320.290.842; C17.300.899 |
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 |
|---|---|---|
| Valproic Acid | decreases expression, affects expression, affects cotreatment | 5 |
| bisphenol A | decreases expression, decreases methylation | 2 |
| Phenylmercuric Acetate | decreases expression, affects cotreatment | 2 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| decabromobiphenyl ether | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| perfluorooctanoic acid | affects cotreatment, decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | affects methylation | 1 |
| perfluorooctane sulfonic acid | affects cotreatment, decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, affects cotreatment | 1 |
| perfluorohexanesulfonic acid | affects cotreatment, decreases expression | 1 |
| belinostat | decreases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Vorinostat | decreases expression | 1 |
| Arsenic | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Diazinon | increases methylation | 1 |
| Methapyrilene | increases methylation | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Aflatoxin B1 | affects methylation | 1 |
| Acrylamide | decreases expression | 1 |
| S-Nitrosoglutathione | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): aortic valve disease 1, Weill-Marchesani syndrome