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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

UCMA Gene

protein-coding   GIFtS: 41
GCID: GC10M013263

Upper Zone Of Growth Plate And Cartilage Matrix Associated

(Previous name: chromosome 10 open reading frame 49)
(Previous symbol: C10orf49)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for UCMA Gene: 
UCMA (upper zone of growth plate and cartilage matrix associated) is a protein-coding gene. Diseases associated with UCMA include pancreatitis.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NC_018921.2  NT_008705.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for UCMA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: UCMA_HUMAN, Q8WVF2 (See protein sequence)
Recommended Name: Unique cartilage matrix-associated protein precursor  
Size: 138 amino acids; 16563 Da
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)

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

Explore proteomics data for UCMA at MOPED 

Post-translational modifications:

  • UniProtKB: 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)
  • UniProtKB: Sulfated on tyrosine residues (By similarity)
  • View neXtProt modification sites for NX_Q8WVF2

  • UCMA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UCMA Protein Expression
    REFSEQ proteins: NP_660357.2  
    ENSEMBL proteins: 
     ENSP00000367952   ENSP00000473368  

    Human Recombinant Protein Products for UCMA: 
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    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (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 to endoplasmic reticulum membrane ----
    GO:0031012extracellular matrix ----

    UCMA for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008430selenium binding ----
         
    UCMA for ontologies           About GeneDecksing


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

    UCMA for phenotypes           About GeneDecksing

    Animal Models:
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for UCMA

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

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

    UCMA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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]

    Search CenterWatch for drugs/clinical trials and news about UCMA

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    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 QIAGEN miScript miRNA Assays for microRNA that regulate UCMA:
    hsa-miR-1178
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    Inhib. RNA
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    Additional mRNA sequence: BC018068.1 

    1 DOTS entry:

    DT.100008722 

    17 AceView cDNA sequences:

    BF111669 AI123014 BI492502 NM_145314 BG709040 AA628504 BC018068 AI275700 
    BX096251 AA993036 BG187136 AI808049 AA621553 AW021545 BI492556 AI761841 
    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    UCMA expression in normal human tissues (normalized intensities)      UCMA embryonic expression: see
    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 
     5/8 selected tissues (see all 8) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 3 entries
             Zeugopod Growth Plate
     
     Blood Brain Barrier (Nervous System)
             Postnatal Endothelial Cells Blood Brain Barrier
     
     Cartilage (Muscoskeletal System)
             fetal cartilage   
     
     Heart (Cardiovascular System)
             Atrioventricular Node Cells Atrioventricular Node
     
     Endothelium (Cardiovascular System)
             Postnatal Endothelial Cells Blood Brain Barrier

    See UCMA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UCMA

    SOURCE GeneReport for Unigene cluster: Hs.112998

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

        SABiosciences Custom PCR Arrays for UCMA
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    In Situ
    Assay Products:
     

     
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    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for UCMA gene from 4/10 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 82.97(n)1
    79.56(a)1
      2 (3.11 cM)5
    685271  NM_001113558.21  NP_001107030.11 
     49761255 
    lizard
    (Anolis carolinensis)
    Reptilia UCMA6
    Uncharacterized protein
    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 59.9(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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/444 SNPs in UCMA are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    2 diseases for UCMA:    About MalaCards
    pancreatitis    


    UCMA for disorders           About GeneDecksing


    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)
    About This Section

    PubMed articles for UCMA gene integrated from 9 sources:
    (articles sorted by number of sources associating them with UCMA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    2. 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. (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. (2002)
    4. Ucma, a novel secreted cartilage-specific protein with implications in osteogenesis. (PubMed id 18156182)1 Surmann-Schmitt C....Stock M. (2008)
    5. Ucma--A novel secreted factor represents a highly specific marker for distal chondrocytes. (PubMed id 17707622)1 Tagariello A....Winterpacht A. (2008)
    6. 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. (2008)
    7. Expression profiling of human fetal growth plate cartilage by EST sequencing. (PubMed id 16176871)2 Tagariello A....Zabel B. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 221044 HGNC: 25205 AceView: C10orf49 Ensembl:ENSG00000165623 euGenes: HUgn221044
    ECgene: UCMA H-InvDB: UCMA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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