FMOD

Summary

FMOD (fibromodulin, HGNC:3774) is a protein-coding gene on chromosome 1q32.1, encoding Fibromodulin (Q06828). Affects the rate of fibrils formation.

Fibromodulin belongs to the family of small interstitial proteoglycans. The encoded protein possesses a central region containing leucine-rich repeats with 4 keratan sulfate chains, flanked by terminal domains containing disulphide bonds. Owing to the interaction with type I and type II collagen fibrils and in vitro inhibition of fibrillogenesis, the encoded protein may play a role in the assembly of extracellular matrix. It may also regulate TGF-beta activities by sequestering TGF-beta into the extracellular matrix. Sequence variations in this gene may be associated with the pathogenesis of high myopia. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 2331 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 71 total
• MANE Select transcript: NM_002023

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3774
Approved symbol	FMOD
Name	fibromodulin
Location	1q32.1
Locus type	gene with protein product
Status	Approved
Aliases	SLRR2E
Ensembl gene	ENSG00000122176
Ensembl biotype	protein_coding
OMIM	600245
Entrez	2331

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 6 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000354955, ENST00000461936, ENST00000493296, ENST00000647586, ENST00000852224, ENST00000852225, ENST00000852226, ENST00000956462

RefSeq mRNA: 1 — MANE Select: NM_002023 NM_002023

CCDS: CCDS30976

Canonical transcript exons

ENST00000354955 — 3 exons

Exon	Start	End
ENSE00000828741	203347292	203348277
ENSE00001828350	203351033	203351122
ENSE00001848466	203340628	203342494

Expression profiles

Bgee: expression breadth ubiquitous, 238 present calls, max score 99.61.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.1959 / max 8327.0328, expressed in 924 samples.

FANTOM5 promoters (15 alternative TSS)

Promoter ID	TPM avg	Samples expressed
16840	22.2078	758
16841	13.6792	797
16833	0.3153	125
16837	0.3000	132
16836	0.2986	118
16835	0.2641	101
16830	0.2109	76
16838	0.2023	80
16834	0.1852	76
16829	0.1119	55

Top tissues by expression

284 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	99.61	gold quality
tibia	UBERON:0000979	99.56	gold quality
cartilage tissue	UBERON:0002418	99.49	gold quality
right coronary artery	UBERON:0001625	99.45	gold quality
ascending aorta	UBERON:0001496	99.24	gold quality
thoracic aorta	UBERON:0001515	99.24	gold quality
descending thoracic aorta	UBERON:0002345	99.09	gold quality
aorta	UBERON:0000947	99.05	gold quality
left coronary artery	UBERON:0001626	98.98	gold quality
popliteal artery	UBERON:0002250	98.97	gold quality
tibial artery	UBERON:0007610	98.97	gold quality
coronary artery	UBERON:0001621	98.96	gold quality
synovial joint	UBERON:0002217	98.67	gold quality
gall bladder	UBERON:0002110	98.27	gold quality
pericardium	UBERON:0002407	98.26	gold quality
left ovary	UBERON:0002119	97.99	gold quality
left uterine tube	UBERON:0001303	97.87	gold quality
tendon of biceps brachii	UBERON:0008188	97.81	gold quality
saphenous vein	UBERON:0007318	97.67	gold quality
tendon	UBERON:0000043	97.56	gold quality
right ovary	UBERON:0002118	97.53	gold quality
right atrium auricular region	UBERON:0006631	97.41	gold quality
endocervix	UBERON:0000458	97.28	gold quality
pylorus	UBERON:0001166	96.95	gold quality
body of uterus	UBERON:0009853	96.91	gold quality
cardiac atrium	UBERON:0002081	96.87	gold quality
body of stomach	UBERON:0001161	96.53	gold quality
stomach	UBERON:0000945	96.21	gold quality
tibial nerve	UBERON:0001323	96.16	gold quality
adipose tissue	UBERON:0001013	96.04	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	54.06
E-MTAB-5061	yes	11.20
E-CURD-112	yes	6.91
E-ENAD-27	yes	6.50
E-MTAB-7303	no	420.45
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP7

miRNA regulators (miRDB)

95 targeting FMOD, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-6888-3P	99.97	65.95	1170
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-548D-3P	99.87	70.67	4362
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-548BB-3P	99.86	70.58	4354
HSA-MIR-548AC	99.84	70.77	4351
HSA-MIR-548H-3P	99.84	70.80	4349
HSA-MIR-548Z	99.84	70.80	4349
HSA-MIR-202-3P	99.84	71.41	1290
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-6715A-3P	99.83	68.05	1473
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-3714	99.71	70.74	2671

Literature-anchored findings (GeneRIF, showing 40)

• study describes a Drosophila gene, scrawny (scny), encoding a ubiquitin-specific protease, which is required in germline, epithelial & intestinal stem cells; it deubiquitylates histone H2B and functions in gene silencing (PMID:19039105)
• The study describes Drosophila ubiquitin protease USP36/Scny function in innate immunity. USP36 is notably required in the gut and prevents constitutive activation of NF-kappaB signal by hydrolysing K63 ubiquitin chains on the adaptator molecule IMD. (PMID:19837371)
• USP36 controls selective autophagy activation in Drosophila and in human cells. (PMID:22622177)
• specific inactivation in hemocytes renders susceptibility to L. monocytogenes infections (PMID:24777180)
• Fibromodulin is shown for the first time to be naturally processed and presented as a tumor-associated antigen in primary chronic lymphocytic leukemia cells, enabling the expansion of autologous tumor-specific T cells. (PMID:15471955)
• Fibromodulin has a role in progression of B-cell chronic lymphocytic leukemia and mantle cell lymphoma (PMID:15741214)
• fibromodulin activates the classical pathway of complement by directly binding C1q (PMID:16046396)
• complement control protein 6-8 is able to interact with DNA and necrotic cells, but in contrast the His-384 allotype binds these ligands more strongly than the Tyr-384 variant (PMID:17293598)
• The collagen-binding Glu-353 and Lys-355 residues in fibromodulin are exposed on the exterior of the beta-sheet-loop structure of the leucine-rich repeat, which resembles the location of interacting residues in other leucine-rich repeat proteins. (PMID:17623650)
• Fibromodulin gene is constantly expressed in human epidermal keratinocytes. (PMID:18448071)
• Specific decorin and fibromodulin core protein fragments in degenerate meniscus and/or human articular cartilage may be of value as biomarkers of disease. (PMID:18620607)
• CD200 blockade was further shown to stimulate antigen-specific T cell responses towards the CLL-associated antigen fibromodulin (PMID:18838168)
• Homologous sequence in lumican and fibromodulin leucine-rich repeat 5-7 competes for collagen binding. (PMID:19008226)
• Ultraviolet B and A irradiation induce FMOD expression in fibroblasts in vitro. (PMID:19041686)
• differentially expressed in mesenchymal stromal cell subset with reduced differentiation potential (PMID:19242838)
• study shows (1) a detailed description of ectopic ossification (EO) formed by Bgn, Fmod or combined depletion, (2) the role of exercise in modulating EO and (3) that Bgn and Fmod are critical in controlling motor function. (PMID:19422643)
• tyrosine sulfate-rich domains of the LRR proteins fibromodulin and osteoadherin bind motifs of basic clusters in a variety of heparin-binding proteins, including bioactive factors (PMID:19700767)
• lumican and fibromodulin display different behaviors and that lumican may promote regeneration of the TMJ after degeneration and deformation induced by IL-1 beta. (PMID:22073367)
• Associations between higher fibomodulin gene expression and risk factors in chronic lymphocytic leukemia. (PMID:22099931)
• Hepatic fibromodulin activates hepatic stellate cells and promotes collagen I deposition, which leads to liver fibrosis. (PMID:22138190)
• Melanocyte-secreted factor FMOD is a key regulator of angiogenesis. (PMID:24355922)
• The results suggest that regions within FMOD is associated with ACL injury susceptibility and that genetic sequence variability within genes encoding proteoglycans may potentially modulate the ligament fibril properties. (PMID:24552666)
• fibromodulin is involved in the inflammatory processes that characterize atherosclerotic plaque vulnerability (PMID:26125412)
• expression levels distinguish chronic lymphocytic leukemia B cells from normal B lymphocytes (PMID:26318878)
• The small leucine rich proteoglycan fibromodulin is overexpressed in human prostate epithelial cancer cell lines in culture and human prostate cancer tissue. (PMID:26600400)
• The data suggest a fibromodulin-modulated collagen cross-linking mechanism where fibromodulin binds to a specific part of the collagen domain and also forms a complex with lysyl oxidase, targeting the enzyme toward specific cross-linking sites. (PMID:26893379)
• we found that secreted FMOD as an important regulator of glioma cell migration downstream of TGF-beta1 pathway and forms a potential basis for therapeutic intervention in GBM. (PMID:27212030)
• crystal structures at ~2.2A resolution of human fibromodulin and chondroadherin. (PMID:28215822)
• In this study, we demonstrate that intradermal administration of a single extracellular matrix (ECM) molecule-fibromodulin (FMOD) protein-can significantly reduce scar size, increase tensile strength, and improve dermal collagen architecture organization in the normal and even excessive-mechanical-loading red Duroc pig wound models. (PMID:29392829)
• HSP47 a well-established endoplasmic reticulum-resident collagen chaperone, also binds decorin, lumican, and fibromodulin with affinities comparable with that in the Hsp47-type I collagen interaction. (PMID:30002123)
• The extracellular matrix proteoglycan fibromodulin is upregulated in clinical and experimental heart failure and affects cardiac remodeling. (PMID:30052659)
• The results of luciferase reporter assay and methylation-specific PCR (MSP) demonstrated that GDNF facilitated the demethylation of the FMOD promoter. (PMID:30176167)
• These results highlight the pivotal role of CDKN2B in cell fate determination and tumorigenic regulation and reveal an alternative pluripotent/multipotent cell reprogramming strategy that solely uses FMOD protein. (PMID:31305260)
• Silencing of the FMOD gene significantly reduces the proliferation, adhesion and migration of H322 cells, which may be conducted by inhibiting the TGF-beta/Smad signaling pathway (PMID:32220183)
• FMOD expression in whole blood aids in distinguishing between chronic lymphocytic leukemia and other leukemic lymphoproliferative disorders. A pilot study. (PMID:32530577)
• Identification of Lumican and Fibromodulin as Hub Genes Associated with Accumulation of Extracellular Matrix in Diabetic Nephropathy. (PMID:33887734)
• The Association of Cell Surface Fibromodulin Expression and Bladder Carcinoma. (PMID:34247360)
• Fibromodulin Gene Variants (FMOD) as Potential Biomarkers for Prostate Cancer and Benign Prostatic Hyperplasia. (PMID:35686032)
• Coupled fibromodulin and SOX2 signaling as a critical regulator of metastatic outgrowth in melanoma. (PMID:35737114)
• A novel ADC targeting cell surface fibromodulin in a mouse model of triple-negative breast cancer. (PMID:35982394)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fmodb	ENSDARG00000010294
danio_rerio	fmoda	ENSDARG00000044895
mus_musculus	Fmod	ENSMUSG00000041559
rattus_norvegicus	Fmod	ENSRNOG00000003183

Paralogs (10): EPYC (ENSG00000083782), OGN (ENSG00000106809), ECM2 (ENSG00000106823), OMG (ENSG00000126861), OMD (ENSG00000127083), LUM (ENSG00000139329), KERA (ENSG00000139330), PRELP (ENSG00000188783), LINGO4 (ENSG00000213171), LINGO3 (ENSG00000220008)

Protein

Protein identifiers

Fibromodulin — Q06828 (reviewed: Q06828)

Alternative names: Collagen-binding 59 kDa protein, Keratan sulfate proteoglycan fibromodulin

All UniProt accessions (3): A0A024R971, A0A3B3IRN5, Q06828

UniProt curated annotations — full annotation on UniProt →

Function. Affects the rate of fibrils formation. May have a primary role in collagen fibrillogenesis.

Subunit / interactions. Binds to type I and type II collagen.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Post-translational modifications. Binds keratan sulfate chains.

Similarity. Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class II subfamily.

RefSeq proteins (1): NP_002014* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000372	LRRNT	Domain
IPR001611	Leu-rich_rpt	Repeat
IPR003591	Leu-rich_rpt_typical-subtyp	Repeat
IPR032675	LRR_dom_sf	Homologous_superfamily
IPR050333	SLRP	Family

Pfam: PF00560, PF01462, PF13516, PF13855

UniProt features (65 total): strand 16, repeat 11, modified residue 8, sequence conflict 8, turn 6, glycosylation site 5, helix 5, site 2, signal peptide 1, chain 1, domain 1, disulfide bond 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5MX0	X-RAY DIFFRACTION	2.21

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q06828-F1	85.96	0.79

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (2): 63 (not sulfated); 65 (not sulfated)

Post-translational modifications (8): 19, 20, 38, 39, 45, 47, 53, 55

Disulfide bonds (1): 334–367

Glycosylation sites (5): 127, 166, 201, 291, 341

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-2022854	Keratan sulfate biosynthesis
R-HSA-2022857	Keratan sulfate degradation
R-HSA-3000178	ECM proteoglycans
R-HSA-3656225	Defective CHST6 causes MCDC1
R-HSA-3656243	Defective ST3GAL3 causes MCT12 and EIEE15
R-HSA-3656244	Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)

MSigDB gene sets: 175 (showing top): GOBP_COLLAGEN_FIBRIL_ORGANIZATION, AAGTCCA_MIR422B_MIR422A, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, KAAB_HEART_ATRIUM_VS_VENTRICLE_UP, HSIAO_HOUSEKEEPING_GENES, CHANDRAN_METASTASIS_DN, PAPASPYRIDONOS_UNSTABLE_ATEROSCLEROTIC_PLAQUE_DN, GOBP_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, DELYS_THYROID_CANCER_DN, GOBP_RESPONSE_TO_GROWTH_FACTOR, MODULE_544, AFFAR_YY1_TARGETS_DN, COLIN_PILOCYTIC_ASTROCYTOMA_VS_GLIOBLASTOMA_DN, MODULE_6

GO Biological Process (2): transforming growth factor beta receptor complex assembly (GO:0007181), collagen fibril organization (GO:0030199)

GO Molecular Function (2): protein binding (GO:0005515), extracellular matrix structural constituent conferring compression resistance (GO:0030021)

GO Cellular Component (5): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), Golgi lumen (GO:0005796), extracellular matrix (GO:0031012), lysosomal lumen (GO:0043202)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Diseases associated with glycosaminoglycan metabolism	3
Keratan sulfate/keratin metabolism	2
Extracellular matrix organization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transforming growth factor beta receptor signaling pathway	1
protein-containing complex assembly	1
extracellular matrix organization	1
binding	1
extracellular matrix structural constituent	1
cellular anatomical structure	1
Golgi apparatus	1
intracellular organelle lumen	1
external encapsulating structure	1
lysosome	1
vacuolar lumen	1

Protein interactions and networks

STRING

2192 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FMOD	BGN	P13247	962
FMOD	ACAN	P16112	907
FMOD	FN1	P02751	903
FMOD	DCN	P07585	891
FMOD	ELN	P15502	820
FMOD	HSPG2	P98160	801
FMOD	COMP	P49747	791
FMOD	TNMD	Q9H2S6	749
FMOD	VCAN	P13611	742
FMOD	TGFB1	P01137	695
FMOD	COL1A1	P02452	669
FMOD	BCAN	Q96GW7	650
FMOD	LOX	P28300	638
FMOD	MKX	Q8IYA7	634
FMOD	LUM	P51884	604

IntAct

10 interactions, top by confidence:

A	B	Type	Score
LRRC32	SMPD2	psi-mi:“MI:0914”(association)	0.640
Dlg4	FMOD	psi-mi:“MI:0407”(direct interaction)	0.440
	FMOD	psi-mi:“MI:0915”(physical association)	0.400
FMOD	CFTR	psi-mi:“MI:0915”(physical association)	0.370
LRRC15	FMOD	psi-mi:“MI:0914”(association)	0.350
FMOD	SERPINB3	psi-mi:“MI:0914”(association)	0.350
FMOD	QSOX1	psi-mi:“MI:0914”(association)	0.350
LGALS3	SDCBP	psi-mi:“MI:0914”(association)	0.350
FMOD		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (43): FMOD (Affinity Capture-MS), FMOD (Biochemical Activity), FMOD (Reconstituted Complex), CTSF (Affinity Capture-MS), S100A7A (Affinity Capture-MS), CCDC181 (Affinity Capture-MS), SERPINB4 (Affinity Capture-MS), SERPINB3 (Affinity Capture-MS), UGT8 (Affinity Capture-MS), IDUA (Affinity Capture-MS), POM121 (Affinity Capture-MS), CELSR1 (Affinity Capture-MS), METRNL (Affinity Capture-MS), QSOX1 (Affinity Capture-MS), PLXNA3 (Affinity Capture-MS)

ESM2 similar proteins: E5DHB5, F7D3V9, O02678, O15335, O46377, O46378, O46390, O46403, O46542, O55226, O60602, O70210, O75093, O75094, O75473, O88279, O88280, O94813, P07585, P13605, P21793, P21809, P21810, P28653, P28654, P28675, P47853, P50608, P50609, P51887, P82963, Q01129, Q06828, Q0PV50, Q27972, Q28888, Q29393, Q5R1V9, Q7TQ62, Q7Z5L7

Diamond homologs: A8WGA3, B1H134, B1H234, D3ZTV3, D4ABX8, F1NUK7, G5EFX6, O42235, O43155, O55226, O60938, O75093, O88279, O88280, O94769, O94991, P04629, P13224, P14770, P24014, P50608, P50609, P56400, P59383, P83503, Q04785, Q06828, Q3UHC2, Q5R6T0, Q5RAC4, Q5RI43, Q6RKD8, Q6WRH9, Q70AK3, Q7Z2Q7, Q80TR4, Q80XU8, Q810B7, Q810C1, Q8BGT1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

71 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	69
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

575 predictions. Top by Δscore:

Variant	Effect	Δscore
1:203342490:GAACT:G	acceptor_gain	1.0000
1:203342491:AACT:A	acceptor_gain	1.0000
1:203342492:ACT:A	acceptor_gain	1.0000
1:203342492:ACTC:A	acceptor_loss	1.0000
1:203342493:CT:C	acceptor_gain	1.0000
1:203342493:CTC:C	acceptor_gain	1.0000
1:203342494:TC:T	acceptor_loss	1.0000
1:203342494:TCT:T	acceptor_gain	1.0000
1:203342495:C:CC	acceptor_gain	1.0000
1:203342495:C:CG	acceptor_loss	1.0000
1:203342496:T:A	acceptor_loss	1.0000
1:203349544:ACT:A	donor_gain	1.0000
1:203349545:CTC:C	donor_gain	1.0000
1:203349547:C:CA	donor_gain	1.0000
1:203349567:T:TA	donor_gain	1.0000
1:203342495:C:G	acceptor_gain	0.9900
1:203347305:G:A	donor_gain	0.9900
1:203349544:A:AC	donor_gain	0.9900
1:203349545:C:CC	donor_gain	0.9900
1:203351031:A:AC	donor_gain	0.9900
1:203351032:C:CC	donor_gain	0.9900
1:203342497:G:C	acceptor_gain	0.9800
1:203342504:C:CT	acceptor_gain	0.9800
1:203342505:A:T	acceptor_gain	0.9800
1:203347302:ATTG:A	donor_gain	0.9800
1:203349526:ATAG:A	donor_gain	0.9800
1:203351029:TTA:T	donor_loss	0.9800
1:203351030:TACCT:T	donor_loss	0.9800
1:203351031:ACC:A	donor_loss	0.9800
1:203351032:C:CT	donor_loss	0.9800

AlphaMissense

2468 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:203342425:A:G	L350P	1.000
1:203342428:C:G	R349P	1.000
1:203342473:C:G	C334S	1.000
1:203342473:C:T	C334Y	1.000
1:203342474:A:T	C334S	1.000
1:203347302:A:C	N323K	1.000
1:203347302:A:T	N323K	1.000
1:203347312:A:G	L320P	1.000
1:203347312:A:T	L320H	1.000
1:203347318:A:G	L318P	1.000
1:203347372:A:G	L300P	1.000
1:203347372:A:T	L300H	1.000
1:203347378:A:G	L298P	1.000
1:203347450:C:G	R274P	1.000
1:203347729:A:G	L181P	1.000
1:203347776:G:C	N165K	1.000
1:203347776:G:T	N165K	1.000
1:203347792:A:G	L160P	1.000
1:203347854:G:C	N139K	1.000
1:203347854:G:T	N139K	1.000
1:203347926:G:C	N115K	1.000
1:203347926:G:T	N115K	1.000
1:203347963:A:T	V103D	1.000
1:203347995:A:C	C92W	1.000
1:203347996:C:A	C92F	1.000
1:203347996:C:G	C92S	1.000
1:203347996:C:T	C92Y	1.000
1:203347997:A:G	C92R	1.000
1:203347997:A:T	C92S	1.000
1:203348026:C:G	C82S	1.000

dbSNP variants (sampled 300 via entrez): RS1000142454 (1:203346234 G>A), RS1000880403 (1:203351974 G>A), RS1001082272 (1:203342689 G>A,T), RS1001150789 (1:203345060 C>T), RS1001163160 (1:203352890 T>C), RS1001253827 (1:203345655 T>C), RS1001481769 (1:203350879 C>A,T), RS1002075973 (1:203348972 A>C,G), RS1002821002 (1:203353104 C>A,T), RS1003598480 (1:203344425 G>A,C), RS1003763499 (1:203349030 T>A), RS1003993417 (1:203352216 C>A), RS1004226640 (1:203349277 G>C), RS1004432171 (1:203349772 C>A), RS1004434639 (1:203346828 C>A)

Disease associations

OMIM: gene MIM:600245 | 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
GCST001762_403	Obesity-related traits	1.000000e-06
GCST006585_2452	Blood protein levels	3.000000e-08
GCST010219_4	Attention deficit hyperactivity disorder (inattention symptoms)	4.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0005106	body composition measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, affects cotreatment, increases methylation, decreases expression	3
Benzo(a)pyrene	increases methylation, increases expression	3
Valproic Acid	increases expression, affects expression, affects cotreatment	3
Tetrachlorodibenzodioxin	increases expression	2
Tobacco Smoke Pollution	affects expression	2
bisphenol F	increases expression, affects cotreatment	1
tungsten carbide	affects cotreatment, decreases expression	1
propionaldehyde	increases expression	1
deoxynivalenol	decreases expression	1
decabromobiphenyl ether	increases expression	1
ethyl-p-hydroxybenzoate	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	increases expression	1
tetrabromobisphenol A	increases expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
MRK 003	decreases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Cisplatin	affects response to substance	1
Cobalt	affects cotreatment, decreases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diazepam	decreases expression	1
Doxorubicin	affects expression	1
Estradiol	affects cotreatment, decreases expression	1
Fluorouracil	affects reaction, increases expression	1
Hydrogen Peroxide	affects expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_E0D6	Ubigene HeLa FMOD KO	Cancer cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.