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 pro... See more...

Aliases for CNMD Gene

Aliases for CNMD Gene

  • Chondromodulin 2 3 4 5
  • Leukocyte Cell-Derived Chemotaxin 1 3 4
  • Leukocyte Cell Derived Chemotaxin 1 2 3
  • Multiple Myeloma Tumor Suppressor 1 2 3
  • BRICHOS Domain Containing 3 2 3
  • MYETS1 3 4
  • LECT1 3 4
  • Chondromodulin-1 3
  • Chondromodulin-I 3
  • BRICD3 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 Bizarre Parosteal Osteochondromatous Proliferation. An important paralog of this gene is TNMD.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for CNMD Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNMD Gene

Genomics for CNMD Gene

GeneHancer (GH) Regulatory Elements for CNMD Gene

Promoters and enhancers for CNMD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J052737 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.7 +0.9 886 2.5 EP300 CTCF REST ZBTB7A HDAC2 POLR2A EZH2 CREB1 SMC3 PHF8 CNMD CKAP2 TPTE2P2 ATP7B PPIAP26 piR-60885-032
GH13J052741 Enhancer 0.3 Ensembl 500.7 -1.4 -1381 0.4 EZH2 CNMD CKAP2 MIR759
GH13J052728 Enhancer 0.9 Ensembl ENCODE 0.4 +11.0 11020 0.8 EP300 TRIM22 BCL11A TCF12 ZNF207 ARNT MEF2B NBN WRNIP1 ELF1 CKAP2 TPTE2P2 VPS36 piR-60885-032 CNMD
GH13J052736 Enhancer 0.3 Ensembl dbSUPER 0.7 +3.0 3019 0.4 NEK3 CNMD piR-60885-032
GH13J052809 Enhancer 1.1 Ensembl ENCODE 0.2 -69.5 -69481 2.2 ZNF217 CTCF ZSCAN5C USF1 REST RFX1 RAD21 TRIM22 TEAD1 ATF2 MIR759 PPIAP26 CNMD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CNMD on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNMD

Genomic Locations for CNMD Gene

Genomic Locations for CNMD Gene
chr13:52,703,264-52,739,820
(GRCh38/hg38)
Size:
36,557 bases
Orientation:
Minus strand
chr13:53,277,399-53,313,947
(GRCh37/hg19)
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-CNMD_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.
  • Glycosylation at Asn243
  • Modification sites at PhosphoSitePlus

Other Protein References for CNMD Gene

No data available for DME Specific Peptides for CNMD Gene

Domains & Families for CNMD Gene

Gene Families for CNMD Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for CNMD Gene

Blocks:
  • BRICHOS domain
  • Surfactant-associated polypeptide/chondromodulin-I precursor
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CNMD Gene

GenScript: Design optimal peptide antigens:
  • Leukocyte cell-derived chemotaxin 1 (LECT1_HUMAN)
  • Leukocyte cell derived chemotaxin 1 (Q5TAN5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75829

UniProtKB/Swiss-Prot:

CNMD_HUMAN :
  • Belongs to the chondromodulin-1 family.
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.

Phenotypes From GWAS Catalog for CNMD Gene

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

Animal Models for CNMD Gene

MGI Knock Outs for CNMD:

Animal Model Products

CRISPR Products

miRNA for CNMD Gene

miRTarBase miRNAs that target CNMD

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNMD

Clone 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 4
plasma membrane 3
cytoskeleton 2
nucleus 2
cytosol 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CNMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNMD Gene

Pathways & Interactions for CNMD Gene

PathCards logo

SuperPathways for CNMD Gene

No Data Available

Gene Ontology (GO) - Biological Process for CNMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development TAS 10103018
GO:0001886 endothelial cell morphogenesis IBA 21873635
GO:0001937 negative regulation of endothelial cell proliferation IBA 21873635
GO:0006029 proteoglycan metabolic process TAS 10103018
GO:0007275 multicellular organism development 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

mRNA/cDNA for CNMD Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNMD

Clone 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

Expression for CNMD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNMD

mRNA Expression by UniProt/SwissProt for CNMD Gene:

O75829-CNMD_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.

Evidence on tissue expression from TISSUES for CNMD Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with CNMD: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LECT1 31 30
  • 90.4 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LECT1 31 30
  • 89.32 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lect1 31 30
  • 86.49 (n)
OneToOne
Cnmd 17
rat
(Rattus norvegicus)
Mammalia Lect1 30
  • 85.29 (n)
oppossum
(Monodelphis domestica)
Mammalia LECT1 31
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LECT1 31
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves LECT1 31 30
  • 69.97 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LECT1 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lect1 30
  • 69.38 (n)
African clawed frog
(Xenopus laevis)
Amphibia lect1-prov 30
zebrafish
(Danio rerio)
Actinopterygii lect1 31 30 30
  • 57.82 (n)
OneToOne
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)
Aminode:
Evolutionary constrained regions (ECRs) for CNMD: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNMD Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
718599 Benign: not provided 52,739,109(-) C/A SYNONYMOUS_VARIANT
rs3742298 - p.Phe116Leu
rs7330220 - p.Val175Ile

Additional dbSNP identifiers (rs#s) for CNMD Gene

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
chondrosarcoma
  • cartilaginous cancer
bizarre parosteal osteochondromatous proliferation
  • bpop
heart valve disease
  • valvular heart disease
rheumatic heart disease
  • rheumatic carditis
infective endocarditis
  • endocarditis, infective
- elite association - COSMIC cancer census association via MalaCards
Search CNMD in MalaCards View complete list of genes associated with diseases

Additional Disease Information for 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 (European journal of biochemistry 1999) 2 3 4 23 54
  2. Chondromodulin-I maintains cardiac valvular function by preventing angiogenesis. (PMID: 16980969) Yoshioka M … Fukuda K (Nature medicine 2006) 3 4 23 54
  3. Chondromodulin-I as a novel cartilage-specific growth-modulating factor. (PMID: 10912526) Hiraki Y … Shukunami C (Pediatric nephrology (Berlin, Germany) 2000) 3 4 23 54
  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 letters 1999) 3 4 23 54
  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 (Biochemical and biophysical research communications 1998) 2 3 4 54

Products for CNMD Gene

  • Signalway ELISA kits for CNMD
  • Signalway Proteins for CNMD

Sources for CNMD Gene