This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vi... See more...

Aliases for UCMA Gene

Aliases for UCMA Gene

  • Upper Zone Of Growth Plate And Cartilage Matrix Associated 2 3 5
  • Unique Cartilage Matrix-Associated Protein 3 4
  • Gla-Rich Protein 2 3
  • C10orf49 3 4
  • Chromosome 10 Open Reading Frame 49 2
  • GRP/UCMA 3
  • GRP 3

External Ids for UCMA Gene

Previous HGNC Symbols for UCMA Gene

  • C10orf49

Previous GeneCards Identifiers for UCMA Gene

  • GC10M013304
  • GC10M013176
  • GC10M013263

Summaries for UCMA Gene

Entrez Gene Summary for UCMA Gene

  • This gene encodes a chondrocyte-specific, highly charged protein that is abundantly expressed in the upper immature zone of fetal and juvenile epiphyseal cartilage. The encoded protein undergoes proteolytic processing to generate a mature protein that is secreted into the extracellular matrix. The glutamic acid residues in the encoded protein undergo gamma carboxylation in a vitamin K-dependent manner. Undercarboxylation of the encoded protein is associated with osteoarthritis in humans. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2015]

GeneCards Summary for UCMA Gene

UCMA (Upper Zone Of Growth Plate And Cartilage Matrix Associated) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include selenium binding.

UniProtKB/Swiss-Prot Summary for UCMA Gene

  • May be involved in the negative control of osteogenic differentiation of osteochondrogenic precursor cells in peripheral zones of fetal cartilage and at the cartilage-bone interface.

Additional gene information for UCMA Gene

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

Genomics for UCMA Gene

GeneHancer (GH) Regulatory Elements for UCMA Gene

Promoters and enhancers for UCMA 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
GH10J013234 Promoter/Enhancer 0.5 EPDnew Ensembl 750.6 +0.6 573 2 UCMA AB330789-004
GH10J013232 Enhancer 0.2 CraniofacialAtlas 750.6 +1.9 1873 0.2 UCMA AB330789-004
GH10J013268 Enhancer 0.9 Ensembl ENCODE 14.8 -34.8 -34825 1.2 SMARCE1 CC2D1A DACH1 TEAD4 CBFA2T2 SMARCA4 ZNF639 TRIM24 IKZF1 DPF2 UCMA piR-43105-039 piR-34822-035
GH10J013318 Enhancer 0.3 UCNEbase 10.9 -84.5 -84540 0.2 SEPHS1 UCMA RBISP1 piR-31534-050
GH10J013322 Enhancer 0.3 dbSUPER 10.9 -88.4 -88437 0.8 POLR2A SEPHS1 UCMA piR-31534-050 RBISP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around UCMA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the UCMA gene promoter:
  • FOXD1
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • NRSF form 1
  • NRSF form 2
  • Pax-4a
  • POU2F1a

Genomic Locations for UCMA Gene

Genomic Locations for UCMA Gene
chr10:13,221,766-13,234,374
(GRCh38/hg38)
Size:
12,609 bases
Orientation:
Minus strand
chr10:13,263,767-13,276,334
(GRCh37/hg19)
Size:
12,568 bases
Orientation:
Minus strand

Genomic View for UCMA Gene

Genes around UCMA on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for UCMA Gene

Proteins for UCMA Gene

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

    Protein Symbol:
    Q8WVF2-UCMA_HUMAN
    Recommended name:
    Unique cartilage matrix-associated protein
    Protein Accession:
    Q8WVF2

    Protein attributes for UCMA Gene

    Size:
    138 amino acids
    Molecular mass:
    16563 Da
    Quaternary structure:
    No Data Available

neXtProt entry for UCMA Gene

Post-translational modifications for UCMA Gene

  • Proteolytically cleaved by a furin-like convertase to generate a persistent C-terminal fragment found in almost the entire cartilage matrix, and affecting osteoblast differentiation.
  • Sulfated on tyrosine residues.

Other Protein References for UCMA Gene

No data available for DME Specific Peptides for UCMA Gene

Domains & Families for UCMA Gene

Gene Families for UCMA Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for UCMA Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for UCMA Gene

GenScript: Design optimal peptide antigens:
  • Unique cartilage matrix-associated protein (UCMA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8WVF2

UniProtKB/Swiss-Prot:

UCMA_HUMAN :
  • Belongs to the UCMA family.
Family:
  • Belongs to the UCMA family.
genes like me logo Genes that share domains with UCMA: view

Function for UCMA Gene

Molecular function for UCMA Gene

UniProtKB/Swiss-Prot Function:
May be involved in the negative control of osteogenic differentiation of osteochondrogenic precursor cells in peripheral zones of fetal cartilage and at the cartilage-bone interface.

Phenotypes From GWAS Catalog for UCMA Gene

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

Animal Models for UCMA Gene

MGI Knock Outs for UCMA:
  • Ucma Ucma<tm1Msto>

Animal Model Products

  • Taconic Biosciences Mouse Models for UCMA

CRISPR Products

miRNA for UCMA Gene

miRTarBase miRNAs that target UCMA

Clone Products

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

Localization for UCMA Gene

Subcellular locations from UniProtKB/Swiss-Prot for UCMA Gene

Secreted, extracellular space, extracellular matrix.

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 UCMA gene
Compartment Confidence
extracellular 4

Gene Ontology (GO) - Cellular Components for UCMA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031012 extracellular matrix IEA --
genes like me logo Genes that share ontologies with UCMA: view

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

Pathways & Interactions for UCMA Gene

PathCards logo

SuperPathways for UCMA Gene

No Data Available

Interacting Proteins for UCMA Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000367952 Q8WVF2-UCMA_HUMAN for UCMA Gene via STRING IID

Gene Ontology (GO) - Biological Process for UCMA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045667 regulation of osteoblast differentiation IEA --
GO:0045668 negative regulation of osteoblast differentiation IEA --
genes like me logo Genes that share ontologies with UCMA: view

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

Drugs & Compounds for UCMA Gene

No Compound Related Data Available

Transcripts for UCMA Gene

mRNA/cDNA for UCMA Gene

(3) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(17) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

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

No ASD Table

Relevant External Links for UCMA Gene

GeneLoc Exon Structure for
UCMA
ECgene alternative splicing isoforms for
UCMA

Expression for UCMA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for UCMA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for UCMA Gene

This gene is overexpressed in Brain - Amygdala (x26.7) and Pituitary (x9.7).

NURSA nuclear receptor signaling pathways regulating expression of UCMA Gene:

UCMA

SOURCE GeneReport for Unigene cluster for UCMA Gene:

Hs.112998

mRNA Expression by UniProt/SwissProt for UCMA Gene:

Q8WVF2-UCMA_HUMAN
Tissue specificity: Predominantly expressed in resting chondrocytes.

Evidence on tissue expression from TISSUES for UCMA Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with UCMA: view

No data available for 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 UCMA Gene

Orthologs for UCMA Gene

This gene was present in the common ancestor of chordates.

Orthologs for UCMA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia UCMA 33 32
  • 98.79 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ucma 17 33 32
  • 82.61 (n)
dog
(Canis familiaris)
Mammalia UCMA 33 32
  • 82.24 (n)
OneToOne
cow
(Bos Taurus)
Mammalia UCMA 32
  • 81.86 (n)
rat
(Rattus norvegicus)
Mammalia Ucma 32
  • 78.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia UCMA 33
  • 69 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia UCMA 33
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia UCMA 33
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ucma 32
  • 63.29 (n)
Str.15650 32
zebrafish
(Danio rerio)
Actinopterygii ucmab 33 32
  • 60.15 (n)
OneToOne
Species where no ortholog for UCMA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chicken (Gallus gallus)
  • 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 UCMA Gene

ENSEMBL:
Gene Tree for UCMA (if available)
TreeFam:
Gene Tree for UCMA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for UCMA: view image

Paralogs for UCMA Gene

No data available for Paralogs for UCMA Gene

Variants for UCMA Gene

Sequence variations from dbSNP and Humsavar for UCMA Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000027611 -- 13,232,372(-) A/G intron_variant
rs1000345441 -- 13,235,623(-) T/C upstream_transcript_variant
rs1000417500 -- 13,235,072(-) T/A upstream_transcript_variant
rs1000691950 -- 13,230,235(-) G/A intron_variant
rs1000760211 -- 13,231,529(-) G/A intron_variant

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

Variant ID Type Subtype PubMed ID
esv3622400 CNV loss 21293372
nsv521216 CNV loss 19592680
nsv528026 CNV loss 19592680
nsv971902 CNV deletion 23825009

Variation tolerance for UCMA Gene

Residual Variation Intolerance Score: 88.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.22; 40.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for UCMA Gene

Human Gene Mutation Database (HGMD)
UCMA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
UCMA

SNP Genotyping and Copy Number Assay Products

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

Disorders for UCMA Gene

Additional Disease Information for UCMA

No disorders were found for UCMA Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for UCMA Gene

Publications for UCMA Gene

  1. Identification of four alternatively spliced transcripts of the Ucma/GRP gene, encoding a new Gla-containing protein. (PMID: 19819238) Le Jeune M … Duterque-Coquillaud M (Experimental cell research 2010) 2 3 56
  2. Ucma, a novel secreted cartilage-specific protein with implications in osteogenesis. (PMID: 18156182) Surmann-Schmitt C … Stock M (The Journal of biological chemistry 2008) 2 3 56
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 56
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  5. Chronic Kidney Disease Circulating Calciprotein Particles and Extracellular Vesicles Promote Vascular Calcification: A Role for GRP (Gla-Rich Protein). (PMID: 29301790) Viegas CSB … Simes DC (Arteriosclerosis, thrombosis, and vascular biology 2018) 3 56

Products for UCMA Gene

Sources for UCMA Gene