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

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, Nov 2024]
Expression: Biased expression in lung adult (RPKM 25.3), mammary gland adult (RPKM 11.8) and 10 other tissues See more
Orthologs: human all
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Genomic context

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_000078.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Multi-organ phenotypes in mice lacking latent TGFbeta binding protein 2 (LTBP2).
Title: Multi-organ phenotypes in mice lacking latent TGFβ binding protein 2 (LTBP2).
Latent-transforming growth factor beta-binding protein-2 (LTBP-2) is required for longevity but not for development of zonular fibers.
Title: Latent-transforming growth factor beta-binding protein-2 (LTBP-2) is required for longevity but not for development of zonular fibers.
These data suggest that LTBP-2 and -4 have critical overlapping functions in forming the robust structure of microfibrils in vitro and in vivo.
Title: Latent TGF-β binding protein 2 and 4 have essential overlapping functions in microfibril development.
LTBP-2 is an essential component for the formation of microfibril bundles in ciliary zonules.
Title: Latent TGF-β binding protein-2 is essential for the development of ciliary zonule microfibrils.
perlecan HS was not essential for latent transforming growth factor-beta-1 binding protein-2 deposition
Title: Confocal microscopy demonstrates association of LTBP-2 in fibrillin-1 microfibrils and colocalisation with perlecan in the disc cell pericellular matrix.
Latent transforming growth factor beta-binding proteins-2 and -3 inhibit the proprotein convertase 5/6A.
Title: Latent transforming growth factor beta-binding proteins-2 and -3 inhibit the proprotein convertase 5/6A.
These results suggest a novel regulatory mechanism of elastic fiber assembly in which LTBP-2 regulates targeting of DANCE on suitable microfibrils to form elastic fibers.
Title: Latent TGF-beta-binding protein 2 binds to DANCE/fibulin-5 and regulates elastic fiber assembly.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (7) 1 citation

General gene information

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Markers

D12Mit228 (e-PCR), detects polymorphism
- UniSTS:126783

D12Mit94 (e-PCR), detects polymorphism
- UniSTS:126915

AW208642 (e-PCR)
- UniSTS:180431

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

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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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)

NM_001370743.1 → NP_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:1291 → 1324

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:875 → 909

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:72 → 170

Glutenin_hmw; High molecular weight glutenin subunit

pfam07645
Location:1206 → 1245

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:667 → 709

TB; TB domain
NM_013589.4 → NP_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:1248 → 1281

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:915 → 950

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:72 → 170

Glutenin_hmw; High molecular weight glutenin subunit

pfam07645
Location:1163 → 1202

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:667 → 709

TB; TB domain

pfam12662
Location:855 → 878

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

NC_000078.7 Reference GRCm39 C57BL/6J

Range

84829986..84923581 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q0VD84

Conserved Domains (5) summary

smart00179
Location:1311 → 1344

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:895 → 929

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:1226 → 1265

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:686 → 729

TB; TB domain

pfam05956
Location:52 → 265

APC_basic; APC basic domain
XM_036157201.1 → XP_036013094.1 latent-transforming growth factor beta-binding protein 2 isoform X3

Conserved Domains (5) summary

smart00179
Location:412 → 445

EGF_CA; Calcium-binding EGF-like domain

cd00054
Location:1 → 30

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:327 → 366

EGF_CA; Calcium-binding EGF domain

pfam00683
Location:532 → 573

TB; TB domain

cl21504
Location:160 → 200

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 ...
XM_036157200.1 → XP_036013093.1 latent-transforming growth factor beta-binding protein 2 isoform X2

Conserved Domains (4) summary

smart00179
Location:938 → 977

EGF_CA; Calcium-binding EGF-like domain

PRK06995
Location:80 → 174

flhF; flagellar biosynthesis protein FlhF

cd00054
Location:895 → 929

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:687 → 729

TB; TB domain