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

Gene ID: 16997, updated on 8-Feb-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. Orthologous to human LTBP2 (latent transforming growth factor beta binding protein 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in lung adult (RPKM 25.3), mammary gland adult (RPKM 11.8) and 10 other tissues See more
Orthologs
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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)
  • Targeted (7)  1 citation
  • Endonuclease-mediated (3) 

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)

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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