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Aliases for CNMD Gene

Aliases for CNMD Gene

  • Chondromodulin 2 3
  • Leukocyte Cell Derived Chemotaxin 1 2 3 5
  • LECT1 3 4 5
  • Multiple Myeloma Tumor Suppressor 1 2 3
  • BRICHOS Domain Containing 3 2 3
  • Leukocyte Cell-Derived Chemotaxin 1 3
  • Chondromodulin-1 3
  • Chondromodulin-I 3
  • BRICD3 3
  • MYETS1 3
  • CHM-I 3
  • CHM1 3
  • CHMI 4

External Ids for CNMD Gene

Previous HGNC Symbols for CNMD Gene

  • MYETS1
  • LECT1

Summaries for CNMD Gene

Entrez Gene Summary for CNMD Gene

  • This gene encodes a glycosylated transmembrane protein that is cleaved to form a mature, secreted protein. The N-terminus of the precursor protein shares characteristics with other surfactant proteins and is sometimes called chondrosurfactant protein although no biological activity has yet been defined for it. The C-terminus of the precursor protein contains a 25 kDa mature protein called leukocyte cell-derived chemotaxin-1 or chondromodulin-1. The mature protein promotes chondrocyte growth and inhibits angiogenesis. This gene is expressed in the avascular zone of prehypertrophic cartilage and its expression decreases during chondrocyte hypertrophy and vascular invasion. The mature protein likely plays a role in endochondral bone development by permitting cartilaginous anlagen to be vascularized and replaced by bone. It may be involved also in the broad control of tissue vascularization during development. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for CNMD Gene

CNMD (Chondromodulin) is a Protein Coding gene. Diseases associated with CNMD include Chondrosarcoma and Aortic Valve Disease 2. An important paralog of this gene is TNMD.

UniProtKB/Swiss-Prot for CNMD Gene

  • Bifunctional growth regulator that stimulates the growth of cultured chondrocytes in the presence of basic fibroblast growth factor (FGF) but inhibits the growth of cultured vascular endothelial cells. May contribute to the rapid growth of cartilage and vascular invasion prior to the replacement of cartilage by bone during endochondral bone development. Inhibits in vitro tube formation and mobilization of endothelial cells. Plays a role as antiangiogenic factor in cardiac valves to suppress neovascularization.

Gene Wiki entry for CNMD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNMD Gene

Genomics for CNMD Gene

Regulatory Elements for CNMD Gene

Enhancers for CNMD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13F052737 0.6 ENCODE 0.8 +1.1 1063 1.5 CTCF L3MBTL2 POLR2A REST ZBTB7A EZH2 ATP7B PPIAP26 CKAP2 CNMD GC13M052678
GH13F052739 0.4 ENCODE 0.8 +0.1 92 0.2 EZH2 CNMD GC13M052678
GH13F052728 0.7 ENCODE 0.4 +11.0 11032 0.2 PKNOX1 MTA2 TRIM22 YBX1 EBF1 TBX21 EP300 TARDBP EED IKZF1 CNMD GC13M052678
GH13F052762 0.3 FANTOM5 0.3 -23.0 -22969 0.3 MIR759 LOC105370209 CNMD
GH13F052713 0.2 Ensembl 0.3 +25.7 25733 0.6 CNMD GC13M052678
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CNMD on UCSC Golden Path with GeneCards custom track

Promoters for CNMD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001785179 811 800 CTCF L3MBTL2 POLR2A REST ZBTB7A EZH2

Genomic Location for CNMD Gene

Chromosome:
13
Start:
52,703,264 bp from pter
End:
52,739,812 bp from pter
Size:
36,549 bases
Orientation:
Minus strand

Genomic View for CNMD Gene

Genes around CNMD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNMD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNMD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNMD Gene

Proteins for CNMD Gene

  • Protein details for CNMD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75829-LECT1_HUMAN
    Recommended name:
    Leukocyte cell-derived chemotaxin 1
    Protein Accession:
    O75829
    Secondary Accessions:
    • Q5TAM4
    • Q8TAY6
    • Q9UM18

    Protein attributes for CNMD Gene

    Size:
    334 amino acids
    Molecular mass:
    37102 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CNMD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNMD Gene

Post-translational modifications for CNMD Gene

  • After cleavage, the post-translationally modified ChM-I is secreted as a glycoprotein.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CNMD Gene

Antibody Products

  • R&D Systems Antibodies for CNMD (Chondromodulin-1)
  • Abcam antibodies for CNMD

No data available for DME Specific Peptides for CNMD Gene

Domains & Families for CNMD Gene

Gene Families for CNMD Gene

Protein Domains for CNMD Gene

Suggested Antigen Peptide Sequences for CNMD Gene

Graphical View of Domain Structure for InterPro Entry

O75829

UniProtKB/Swiss-Prot:

LECT1_HUMAN :
  • Contains 1 BRICHOS domain.
  • Belongs to the chondromodulin-1 family.
Domain:
  • Contains 1 BRICHOS domain.
Family:
  • Belongs to the chondromodulin-1 family.
genes like me logo Genes that share domains with CNMD: view

Function for CNMD Gene

Molecular function for CNMD Gene

UniProtKB/Swiss-Prot Function:
Bifunctional growth regulator that stimulates the growth of cultured chondrocytes in the presence of basic fibroblast growth factor (FGF) but inhibits the growth of cultured vascular endothelial cells. May contribute to the rapid growth of cartilage and vascular invasion prior to the replacement of cartilage by bone during endochondral bone development. Inhibits in vitro tube formation and mobilization of endothelial cells. Plays a role as antiangiogenic factor in cardiac valves to suppress neovascularization.
genes like me logo Genes that share phenotypes with CNMD: view

Animal Models for CNMD Gene

MGI Knock Outs for CNMD:

Animal Model Products

miRNA for CNMD Gene

miRTarBase miRNAs that target CNMD

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CNMD Gene

Localization for CNMD Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNMD Gene

Chondromodulin-1: Secreted, extracellular space, extracellular matrix. Note=Accumulated in the inter-territorial matrix of cartilage.
Chondrosurfactant protein: Endomembrane system; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNMD gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 2
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CNMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005578 proteinaceous extracellular matrix IEA --
GO:0012505 endomembrane system IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CNMD: view

Pathways & Interactions for CNMD Gene

No Data Available

Interacting Proteins for CNMD Gene

Gene Ontology (GO) - Biological Process for CNMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 10103018
GO:0006029 proteoglycan metabolic process TAS 10103018
GO:0007275 multicellular organism development IEA --
GO:0016525 negative regulation of angiogenesis IDA 16980969
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with CNMD: view

No data available for Pathways by source and SIGNOR curated interactions for CNMD Gene

Drugs & Compounds for CNMD Gene

(2) Drugs for CNMD Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for CNMD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CNMD: view

Transcripts for CNMD Gene

Unigene Clusters for CNMD Gene

Leukocyte cell derived chemotaxin 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CNMD Gene

No ASD Table

Relevant External Links for CNMD Gene

GeneLoc Exon Structure for
CNMD
ECgene alternative splicing isoforms for
CNMD

Expression for CNMD Gene

NURSA nuclear receptor signaling pathways regulating expression of CNMD Gene:

CNMD

SOURCE GeneReport for Unigene cluster for CNMD Gene:

Hs.421391

mRNA Expression by UniProt/SwissProt for CNMD Gene:

O75829-LECT1_HUMAN
Tissue specificity: Detected in cartilage and cardiac valves (at protein level). Detected in the laminae fibrosa, spongiosa and ventricularis layers of normal cardiac valves (at protein level). Expression is decreased cardiac valves of patients with valvular heart disease (at protein level). Weakly expressed in chondrosarcoma.

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for CNMD Gene

Orthologs for CNMD Gene

This gene was present in the common ancestor of chordates.

Orthologs for CNMD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LECT1 35 34
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LECT1 34 35
  • 90.4 (n)
cow
(Bos Taurus)
Mammalia LECT1 34 35
  • 89.32 (n)
mouse
(Mus musculus)
Mammalia Lect1 35 16 34
  • 86.49 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lect1 34
  • 85.29 (n)
oppossum
(Monodelphis domestica)
Mammalia LECT1 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LECT1 35
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves LECT1 35 34
  • 69.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LECT1 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lect1 34
  • 69.38 (n)
African clawed frog
(Xenopus laevis)
Amphibia lect1-prov 34
zebrafish
(Danio rerio)
Actinopterygii lect1 34 34 35
  • 57.82 (n)
Species where no ortholog for CNMD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CNMD Gene

ENSEMBL:
Gene Tree for CNMD (if available)
TreeFam:
Gene Tree for CNMD (if available)

Paralogs for CNMD Gene

Paralogs for CNMD Gene

genes like me logo Genes that share paralogs with CNMD: view

Variants for CNMD Gene

Sequence variations from dbSNP and Humsavar for CNMD Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1052307 -- 52,703,577(-) TATCA(C/T)GTGCT utr-variant-3-prime
rs1052308 -- 52,703,342(-) CATTG(A/C)TTTGC utr-variant-3-prime
rs10529115 -- 52,740,511(+) ACACA(-/CACACA)GAGTA upstream-variant-2KB
rs111248851 -- 52,724,828(+) GGAGG(C/T)GGAGG intron-variant
rs111250385 -- 52,726,176(+) CAGAC(A/G)CCTGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNMD Gene

Variant ID Type Subtype PubMed ID
dgv1653n100 CNV gain 25217958
esv2668707 CNV deletion 23128226
esv2670815 CNV deletion 23128226
esv2747426 CNV deletion 23290073
esv2747427 CNV deletion 23290073
esv2747428 CNV deletion 23290073
esv4481 CNV loss 18987735
nsv1044949 CNV gain 25217958
nsv1151542 CNV deletion 26484159
nsv820041 CNV gain 19587683

Variation tolerance for CNMD Gene

Residual Variation Intolerance Score: 67.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.98; 68.25% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNMD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNMD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNMD Gene

Disorders for CNMD Gene

MalaCards: The human disease database

(2) MalaCards diseases for CNMD Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
chondrosarcoma
  • chondrosarcoma of bone
aortic valve disease 2
  • aortic valve stenosis
- elite association - COSMIC cancer census association via MalaCards
Search CNMD in MalaCards View complete list of genes associated with diseases

Relevant External Links for CNMD

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNMD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNMD
genes like me logo Genes that share disorders with CNMD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNMD Gene

Publications for CNMD Gene

  1. Molecular cloning of human chondromodulin-I, a cartilage-derived growth modulating factor, and its expression in Chinese hamster ovary cells. (PMID: 10103018) Hiraki Y. … Kondo J. (Eur. J. Biochem. 1999) 2 3 4 22 64
  2. Chondromodulin-I maintains cardiac valvular function by preventing angiogenesis. (PMID: 16980969) Yoshioka M. … Fukuda K. (Nat. Med. 2006) 3 4 22 64
  3. Chondromodulin-I as a novel cartilage-specific growth-modulating factor. (PMID: 10912526) Hiraki Y. … Shukunami C. (Pediatr. Nephrol. 2000) 3 4 22 64
  4. Specific loss of chondromodulin-I gene expression in chondrosarcoma and the suppression of tumor angiogenesis and growth by its recombinant protein in vivo. (PMID: 10570955) Hayami T. … Hiraki Y. (FEBS Lett. 1999) 3 4 22 64
  5. Expression of cartilage-specific functional matrix chondromodulin-I mRNA in rabbit growth plate chondrocytes and its responsiveness to growth stimuli in vitro. (PMID: 9731231) Shukunami C. … Hiraki Y. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 64

Products for CNMD Gene

Sources for CNMD Gene

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