FMOD fibromodulin [Homo sapiens (human)] - Gene

Summary

Official Symbol: FMODprovided by HGNC
Official Full Name: fibromodulinprovided by HGNC
Primary source: HGNC:HGNC:3774
See related: Ensembl:ENSG00000122176 MIM:600245; AllianceGenome:HGNC:3774
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FM; SLRR2E
Summary: 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. [provided by RefSeq, Jun 2013]
Expression: Broad expression in gall bladder (RPKM 78.8), fat (RPKM 77.4) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q32.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (203340628..203351122, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (202603493..202613991, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (203309756..203320250, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel ADC targeting cell surface fibromodulin in a mouse model of triple-negative breast cancer.
Title: A novel ADC targeting cell surface fibromodulin in a mouse model of triple-negative breast cancer.
Coupled fibromodulin and SOX2 signaling as a critical regulator of metastatic outgrowth in melanoma.
Title: Coupled fibromodulin and SOX2 signaling as a critical regulator of metastatic outgrowth in melanoma.
Fibromodulin Gene Variants (FMOD) as Potential Biomarkers for Prostate Cancer and Benign Prostatic Hyperplasia.
Title: Fibromodulin Gene Variants (FMOD) as Potential Biomarkers for Prostate Cancer and Benign Prostatic Hyperplasia.
The Association of Cell Surface Fibromodulin Expression and Bladder Carcinoma.
Title: The Association of Cell Surface Fibromodulin Expression and Bladder Carcinoma.
FMOD expression in whole blood aids in distinguishing between chronic lymphocytic leukemia and other leukemic lymphoproliferative disorders. A pilot study.
Title: FMOD expression in whole blood aids in distinguishing between chronic lymphocytic leukemia and other leukemic lymphoproliferative disorders. A pilot study.
Identification of Lumican and Fibromodulin as Hub Genes Associated with Accumulation of Extracellular Matrix in Diabetic Nephropathy.
Title: Identification of Lumican and Fibromodulin as Hub Genes Associated with Accumulation of Extracellular Matrix in Diabetic Nephropathy.
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.
Title: CDKN2B upregulation prevents teratoma formation in multipotent fibromodulin-reprogrammed cells.
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
Title: [Effect of Silencing FMOD on Proliferation and Migration of H322 Cells and Its Mechanism].
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.
Title: Fibromodulin reduces scar size and increases scar tensile strength in normal and excessive-mechanical-loading porcine cutaneous wounds.
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.
Title: The endoplasmic reticulum-resident collagen chaperone Hsp47 interacts with and promotes the secretion of decorin, fibromodulin, and lumican.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

FMOD__6742 (e-PCR)
- UniSTS:466179

RH71292 (e-PCR)
- UniSTS:42021

AL009327 (e-PCR)
- UniSTS:3655

SHGC-156039 (e-PCR)
- UniSTS:182110

G54027 (e-PCR)
- UniSTS:109409

SHGC-132049 (e-PCR)
- UniSTS:170614

WI-7331 (e-PCR)
- UniSTS:26002

AL009277 (e-PCR)
- UniSTS:38049

G34807 (e-PCR)
- UniSTS:77761

D1S3290 (e-PCR)
- UniSTS:77762

RH70538 (e-PCR)
- UniSTS:32980

FMOD (e-PCR)
- UniSTS:503782

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent conferring compression resistance	RCA inferred from Reviewed Computational Analysis more info	PubMed

Process	Evidence Code	Pubs
involved_in collagen fibril organization	IEA Inferred from Electronic Annotation more info
involved_in transforming growth factor beta receptor complex assembly	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
colocalizes_with collagen-containing extracellular matrix	HDA more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular matrix	TAS Traceable Author Statement more info	PubMed
located_in extracellular region	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in lysosomal lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: fibromodulin

Names: KSPG fibromodulin; collagen-binding 59 kDa protein; epididymis secretory sperm binding protein; keratan sulfate proteoglycan fibromodulin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002023.5 → NP_002014.2 fibromodulin precursor

See identical proteins and their annotated locations for NP_002014.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the supported protein.

Source sequence(s)

AK092899, AL542756, BC035281, BQ183885, U05291

Consensus CDS

CCDS30976.1

UniProtKB/Swiss-Prot

Q06828, Q15331, Q8IV47

UniProtKB/TrEMBL

A0A024R971, A0A384N636, B4E1J3

Related

ENSP00000347041.4, ENST00000354955.5

Conserved Domains (2) summary

PRK15370
Location:81 → 309

PRK15370; type III secretion system effector E3 ubiquitin transferase SlrP

sd00033
Location:107 → 130

LRR_RI; leucine-rich repeat [structural motif]

RNA

NR_103757.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 1.

Source sequence(s)

BQ183885, DA918421, U05291