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    Ltbp2 latent transforming growth factor beta binding protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 16997, updated on 9-Dec-2024

    Summary

    Official Symbol
    Ltbp2provided by MGI
    Official Full Name
    latent transforming growth factor beta binding protein 2provided by MGI
    Primary source
    MGI:MGI:99502
    See related
    Ensembl:ENSMUSG00000002020 AllianceGenome:MGI:99502
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    Predicted to enable microfibril binding activity. Acts upstream of or within supramolecular fiber organization. Located in collagen-containing extracellular matrix. Is expressed in several structures, including cardiovascular system; connective tissue; genitourinary system; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in Weill-Marchesani syndrome and megalocornea. Orthologous to human LTBP2 (latent transforming growth factor beta binding protein 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in lung adult (RPKM 25.3), mammary gland adult (RPKM 11.8) and 10 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Ltbp2 in Genome Data Viewer
    Location:
    12 D1; 12 39.39 cM
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (84829986..84923581, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (84783212..84876558, complement)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer mm9_chr12:86096267-86096568 Neighboring gene NPC intracellular cholesterol transporter 2 Neighboring gene iron-sulfur cluster assembly 2 Neighboring gene STARR-seq mESC enhancer starr_32756 Neighboring gene STARR-seq mESC enhancer starr_32757 Neighboring gene RIKEN cDNA D030025P21 gene Neighboring gene STARR-positive B cell enhancer ABC_E7160 Neighboring gene apoptosis resistant E3 ubiquitin protein ligase 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:86311736-86311923 Neighboring gene FCF1 rRNA processing protein

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 
    • Targeted (7)  1 citation

    General gene information

    Markers

    Clone Names

    • MGC144212

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables extracellular matrix structural constituent RCA
    inferred from Reviewed Computational Analysis
    more info
    PubMed 
    enables growth factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables heparin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables microfibril binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in supramolecular fiber organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within supramolecular fiber organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within supramolecular fiber organization ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    latent-transforming growth factor beta-binding protein 2
    Names
    LTBP-2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001370743.1NP_001357672.1  latent-transforming growth factor beta-binding protein 2 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC122310
      Consensus CDS
      CCDS88370.1
      UniProtKB/Swiss-Prot
      O08999, Q8C6W9
      UniProtKB/TrEMBL
      E9QNQ3
      Related
      ENSMUSP00000002073.7, ENSMUST00000002073.13
      Conserved Domains (5) summary
      smart00179
      Location:12911324
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:875909
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam03157
      Location:72170
      Glutenin_hmw; High molecular weight glutenin subunit
      pfam07645
      Location:12061245
      EGF_CA; Calcium-binding EGF domain
      pfam00683
      Location:667709
      TB; TB domain
    2. NM_013589.4NP_038617.4  latent-transforming growth factor beta-binding protein 2 isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
      Source sequence(s)
      AC122310
      Consensus CDS
      CCDS49112.2
      UniProtKB/TrEMBL
      E9Q1D6, Q0VD84
      Related
      ENSMUSP00000105883.3, ENSMUST00000110254.9
      Conserved Domains (6) summary
      smart00179
      Location:12481281
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:915950
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam03157
      Location:72170
      Glutenin_hmw; High molecular weight glutenin subunit
      pfam07645
      Location:11631202
      EGF_CA; Calcium-binding EGF domain
      pfam00683
      Location:667709
      TB; TB domain
      pfam12662
      Location:855878
      cEGF; Complement Clr-like EGF-like

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      84829986..84923581 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006515502.5XP_006515565.1  latent-transforming growth factor beta-binding protein 2 isoform X1

      UniProtKB/TrEMBL
      Q0VD84
      Conserved Domains (5) summary
      smart00179
      Location:13111344
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:895929
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:12261265
      EGF_CA; Calcium-binding EGF domain
      pfam00683
      Location:686729
      TB; TB domain
      pfam05956
      Location:52265
      APC_basic; APC basic domain
    2. XM_036157201.1XP_036013094.1  latent-transforming growth factor beta-binding protein 2 isoform X3

      Conserved Domains (5) summary
      smart00179
      Location:412445
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:130
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam07645
      Location:327366
      EGF_CA; Calcium-binding EGF domain
      pfam00683
      Location:532573
      TB; TB domain
      cl21504
      Location:160200
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    3. XM_036157200.1XP_036013093.1  latent-transforming growth factor beta-binding protein 2 isoform X2

      Conserved Domains (4) summary
      smart00179
      Location:938977
      EGF_CA; Calcium-binding EGF-like domain
      PRK06995
      Location:80174
      flhF; flagellar biosynthesis protein FlhF
      cd00054
      Location:895929
      EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
      pfam00683
      Location:687729
      TB; TB domain