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LTBP2 latent transforming growth factor beta binding protein 2 [ Homo sapiens (human) ]

Gene ID: 4053, updated on 15-Apr-2019

Summary

Official Symbol
LTBP2provided by HGNC
Official Full Name
latent transforming growth factor beta binding protein 2provided by HGNC
Primary source
HGNC:HGNC:6715
See related
Ensembl:ENSG00000119681 MIM:602091
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WMS3; GLC3D; LTBP3; MSPKA; MSTP031; C14orf141
Summary
The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]
Annotation information
Note: The official symbol for this gene (GeneID: 4053) is now LTBP2. A different gene (GeneID: 4054) was previously identified in PMID: 7719025 as LTBP2. [27 Jan 2017]
Expression
Broad expression in lung (RPKM 30.6), ovary (RPKM 21.5) and 19 other tissues See more
Orthologs

Genomic context

See LTBP2 in Genome Data Viewer
Location:
14q24.3
Exon count:
36
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 14 NC_000014.9 (74498183..74612593, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74964886..75079034, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene RAP1A, member of RAS oncogene family pseudogene Neighboring gene NPC intracellular cholesterol transporter 2 Neighboring gene iron-sulfur cluster assembly 2 Neighboring gene uncharacterized LOC101928352 Neighboring gene uncharacterized LOC105370567

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog

Pathways from BioSystems

  • Elastic fibre formation, organism-specific biosystem (from REACTOME)
    Elastic fibre formation, organism-specific biosystemElastic fibres (EF) are a major structural constituent of dynamic connective tissues such as large arteries and lung parenchyma, where they provide essential properties of elastic recoil and resilien...
  • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
    Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin and associated-microfibrils, fibronectin and laminins embedded...
  • Hypothesized Pathways in Pathogenesis of Cardiovascular Disease, organism-specific biosystem (from WikiPathways)
    Hypothesized Pathways in Pathogenesis of Cardiovascular Disease, organism-specific biosystemThe pathways hypothesized to be involved in cardiovascular diseases begin with LTBPs and Fibrillins activating a TGFBR complex. The complex can begin the canonical TGFB pathway involving SMAD protei...
  • Molecules associated with elastic fibres, organism-specific biosystem (from REACTOME)
    Molecules associated with elastic fibres, organism-specific biosystemProteins found associated with microfibrils include vitronectin (Dahlback et al. 1990), latent transforming growth factor beta-binding proteins (Kielty et al. 2002, Munger & Sheppard 2011), emilin (B...

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix structural constituent IEA
Inferred from Electronic Annotation
more info
PubMed 
extracellular matrix structural constituent RCA
inferred from Reviewed Computational Analysis
more info
PubMed 
growth factor binding IEA
Inferred from Electronic Annotation
more info
 
heparin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
protein secretion TAS
Traceable Author Statement
more info
PubMed 
protein targeting TAS
Traceable Author Statement
more info
PubMed 
supramolecular fiber organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
transforming growth factor beta receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_021486.1 RefSeqGene

    Range
    5001..119149
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000428.3NP_000419.1  latent-transforming growth factor beta-binding protein 2 precursor

    See identical proteins and their annotated locations for NP_000419.1

    Status: REVIEWED

    Source sequence(s)
    AC005479, AC013451
    Consensus CDS
    CCDS9831.1
    UniProtKB/Swiss-Prot
    Q14767
    Related
    ENSP00000261978.4, ENST00000261978.9
    Conserved Domains (4) summary
    smart00179
    Location:930960
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:13031335
    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:14231458
    TB; TB domain
    pfam07645
    Location:12181257
    EGF_CA; Calcium-binding EGF domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p12 Primary Assembly

    Range
    74498183..74612593 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536765.2XP_011535067.1  latent-transforming growth factor beta-binding protein 2 isoform X1

    Conserved Domains (5) summary
    smart00179
    Location:803833
    EGF_CA; Calcium-binding EGF-like domain
    cd00054
    Location:11761208
    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:12961331
    TB; TB domain
    pfam07645
    Location:10911130
    EGF_CA; Calcium-binding EGF domain
    pfam15077
    Location:76165
    DUF4544; Domain of unknown function (DUF4544)
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