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FMOD fibromodulin [ Homo sapiens (human) ]

Gene ID: 2331, updated on 3-Oct-2020

Summary

Official Symbol
FMODprovided by HGNC
Official Full Name
fibromodulinprovided by HGNC
Primary source
HGNC:HGNC:3774
See related
Ensembl:ENSG00000122176 MIM:600245
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

Genomic context

See FMOD in Genome Data Viewer
Location:
1q32.1
Exon count:
3
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (203340628..203351122, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (203309749..203320557, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CRISPRi-validated cis-regulatory element chr1.10869 Neighboring gene RNA, U6 small nuclear 487, pseudogene Neighboring gene small EDRK-rich factor 2 pseudogene Neighboring gene uncharacterized LOC102723529

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

General protein information

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

NCBI Reference Sequences (RefSeq)

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)

  1. NM_002023.5NP_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
    UniProtKB/TrEMBL
    A0A024R971, B3KS64, Q12833
    Related
    ENSP00000347041.4, ENST00000354955.5
    Conserved Domains (2) summary
    PRK15370
    Location:81309
    PRK15370; type III secretion system effector E3 ubiquitin transferase SlrP
    sd00033
    Location:107130
    LRR_RI; leucine-rich repeat [structural motif]

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    203340628..203351122 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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