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UCMA Gene

protein-coding   GIFtS: 42
GCID: GC10M013263

Upper Zone Of Growth Plate And Cartilage Matrix Associated

(Previous name: chromosome 10 open reading frame 49)
(Previous symbol: C10orf49)
  Search for UCMA
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Upper Zone Of Growth Plate And Cartilage Matrix Associated1 2
C10orf491 2 3
Chromosome 10 Open Reading Frame 491
GRP2
Gla-Rich Protein2
Unique Cartilage Matrix-Associated Protein2

External Ids:    HGNC: 252051   Entrez Gene: 2210442   Ensembl: ENSG000001656237   UniProtKB: Q8WVF23   

Export aliases for UCMA gene to outside databases

Previous GC identifers: GC10M013304 GC10M013176


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for UCMA Gene:
UCMA (upper zone of growth plate and cartilage matrix associated) is a protein-coding gene.

UniProtKB/Swiss-Prot: UCMA_HUMAN, Q8WVF2
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 (By similarity)

summary for UCMA Gene:
Bombesin receptors are activated by the endogenous ligands gastrin-releasing peptide (GRP), neuromedin B
(NMB) and GRP18-27 (neuromedin C). Three subtypes of bombesin receptor are known: a GRP-preferring receptor
(BB1 receptor), a NMB-preferring receptor (BB2 receptor) and an orphan receptor (bb3 receptor).




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_008705.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the UCMA gene promoter:
         NRSF form 1   FOXD1   NRSF form 2   NF-AT   NF-AT4   NF-AT2   POU2F1a   NF-AT3   Pax-4a   NF-AT1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for UCMA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UCMA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10p13   Ensembl cytogenetic band:  10p13   HGNC cytogenetic band: 10p13

UCMA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UCMA gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M013263:  view genomic region     (about GC identifiers)

Start:
13,263,767 bp from pter      End:
13,276,334 bp from pter
Size:
12,568 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: UCMA_HUMAN, Q8WVF2 (See protein sequence)
Recommended Name: Unique cartilage matrix-associated protein precursor  
Size: 138 amino acids; 16563 Da

Explore the universe of human proteins at neXtProt for UCMA: NX_Q8WVF2

Explore proteomics data for UCMA at MOPED

Post-translational modifications: 

  • 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 (By similarity)1
  • Sulfated on tyrosine residues (By similarity)1
  • Modification sites at neXtProt

  • See UCMA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_660357.2  
    ENSEMBL proteins: 
     ENSP00000367952   ENSP00000473368  

    UCMA Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q8WVF2

    UniProtKB/Swiss-Prot: UCMA_HUMAN, Q8WVF2
    Similarity: Belongs to the UCMA family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UCMA_HUMAN, Q8WVF2
    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 (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008430selenium binding ----
         
    Find genes that share ontologies with UCMA           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Ucma):
     skeleton 

    Find genes that share phenotypes with UCMA           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for UCMA
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    miRNA
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    miRTarBase miRNAs that target UCMA:
    hsa-mir-335-5p (MIRT018032)

    Block miRNA regulation of human, mouse, rat UCMA using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate UCMA:
    hsa-miR-1178
    SwitchGear 3'UTR luciferase reporter plasmidUCMA 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    UCMA_HUMAN, Q8WVF2: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular3
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IEA--
    GO:0016235aggresome IEA--
    GO:0030176integral component of endoplasmic reticulum membrane ----
    GO:0031012extracellular matrix ----

    Find genes that share ontologies with UCMA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for UCMA
    Interactions:

        Search GeneGlobe Interaction Network for UCMA

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006886intracellular protein transport ----
    GO:0045668negative regulation of osteoblast differentiation IEA--

    Find genes that share ontologies with UCMA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for UCMA available from Tocris Bioscience    About this table
    CompoundAction CAS #
    BombesinInvolved in gastrointestinal tract function[31362-50-2]
    PD 176252GRP (BB2) and NMB (BB1) receptor antagonist[204067-01-6]
    GRP (human)Endogenous GRP receptor agonist[93755-85-2]
    GRP (porcine)Endogenous GRP receptor agonist[74815-57-9]
    Neuromedin B (porcine)Mammalian bombesin-like peptide[87096-84-2]



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for UCMA gene: 
    NM_145314.1  

    Unigene Cluster for UCMA:

    Upper zone of growth plate and cartilage matrix associated
    Hs.112998  [show with all ESTs]
    Unigene Representative Sequence: BG709040
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378681(uc001imd.3) ENST00000463405
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate UCMA:
    hsa-miR-1178
    SwitchGear 3'UTR luciferase reporter plasmidUCMA 3' UTR sequence
    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for UCMA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat UCMA
      QuantiTect SYBR Green Assays in human, mouse, rat UCMA
      QuantiFast Probe-based Assays in human, mouse, rat UCMA

    Additional mRNA sequence: BC018068.1 

    1 DOTS entry:

    DT.100008722 

    17 AceView cDNA sequences:

    BF111669 AI123014 BI492502 BG709040 BX096251 AI275700 NM_145314 AA628504 
    BC018068 AA993036 BG187136 AI808049 AA621553 AI761841 BI492556 AW021545 
    BG714828 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    UCMA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTTTCCTTC
    UCMA Expression
    About this image


    UCMA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Zeugopod Growth Plate
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Stem Cell line 7
     
     Brain (Nervous System)
             Mature Endothelial Cells Blood Brain Barrier
    UCMA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UCMA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.112998

    UniProtKB/Swiss-Prot: UCMA_HUMAN, Q8WVF2
    Tissue specificity: Predominantly expressed in resting chondrocytes

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UCMA

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for UCMA gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ucma1 , 5 upper zone of growth plate and cartilage matrix associated1, 5 82.61(n)1
    78.99(a)1
      2 (3.11 cM)5
    685271  NM_001113558.21  NP_001107030.11 
     49761255 
    lizard
    (Anolis carolinensis)
    Reptilia UCMA6
    upper zone of growth plate and cartilage matrix as...
    60(a)
    1 ↔ 1
    5(89958488-89968915)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.156502 Transcribed sequences 74.83(n)    142025081 
    zebrafish
    (Danio rerio)
    Actinopterygii ucmab1 upper zone of growth plate and cartilage matrix associated more 60.15(n)
    51.88(a)
      405870  NM_212934.1  NP_998099.1 


    ENSEMBL Gene Tree for UCMA (if available)
    TreeFam Gene Tree for UCMA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for UCMA (see all 444)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1388348871,2
    --13175888(+) CATGGA/CAAGAC 1 -- int10--------
    rs1918166501,2
    --13175962(+) ACTTGA/GGAGAA 1 -- int10--------
    rs348802191,2
    C,F--13175994(+) GCCTGG/AAAGGT 1 -- int15Minor allele frequency- A:0.24NA 128
    rs3742052521,2
    C--13176095(+) TGTAT-/ATA   
       TATAC
    ATATA
    1 -- int10--------
    rs2013730791,2
    --13176099(+) TATAT-/ATAC  
            
    ATATA
    1 -- int10--------
    rs1510952761,2
    C--13176101(+) TATAT-/ACATATA 1 -- int10--------
    rs109063221,2
    C,F,A,H--13176102(+) ATATAT/CATATA 1 -- int13Minor allele frequency- C:0.25NA 8
    rs112582681,2
    C--13176108(+) ATATAC/TATATA 1 -- int10--------
    rs1999337171,2
    --13176108(+) TATAT-/ACATATA 1 -- int10--------
    rs112582691,2
    C,F,H--13176161(+) CCCAGC/TGTTTC 1 -- int14Minor allele frequency- T:0.01NS EA 394

    HapMap Linkage Disequilibrium report for UCMA (13263767 - 13276334 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for UCMA:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv521216CNV Loss19592680
    nsv528026CNV Loss19592680

    Human Gene Mutation Database (HGMD): UCMA
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UCMA
    DNA2.0 Custom Variant and Variant Library Synthesis for UCMA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with UCMA           About GenesLikeMe


    Export disorders for UCMA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for UCMA gene integrated from 10 sources:
    (articles sorted by number of sources associating them with UCMA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Exon resequencing of the gene encoding UCma/GRP reveals a common carboxy-terminal 138Thr &gt; Ser polymorphism. (PubMed id 24409676)1 Osman A....Magnusson P. (Clin. Lab. 2013)
    5. Ucma--A novel secreted factor represents a highly specific marker for distal chondrocytes. (PubMed id 17707622)1 Tagariello A....Winterpacht A. (Matrix Biol. 2008)
    6. Ucma, a novel secreted cartilage-specific protein with implications in osteogenesis. (PubMed id 18156182)1 Surmann-Schmitt C....Stock M. (J. Biol. Chem. 2008)
    7. Gla-rich protein (GRP), a new vitamin K-dependent protein identified from sturgeon cartilage and highly conserved in vertebrates. (PubMed id 18836183)1 Viegas C.S....Cancela M.L. (J. Biol. Chem. 2008)
    8. Expression profiling of human fetal growth plate cartilage by EST sequencing. (PubMed id 16176871)2 Tagariello A....Zabel B. (Matrix Biol. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 221044 HGNC: 25205 AceView: C10orf49 Ensembl:ENSG00000165623 euGenes: HUgn221044
    ECgene: UCMA H-InvDB: UCMA

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for UCMA Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for UCMA gene:
    Search GeneIP for patents involving UCMA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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