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

    Gene ID: 4053, updated on 12-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:6715
    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
    mouse all
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    Genomic context

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    See LTBP2 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (74498183..74612237, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (68707154..68821330, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74964886..75078940, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:74954493-74955692 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5930 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5931 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8728 Neighboring gene RAP1A, member of RAS oncogene family pseudogene Neighboring gene NPC intracellular cholesterol transporter 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74966807-74967802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74969212-74969906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74973375-74973884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74976673-74977548 Neighboring gene iron-sulfur cluster assembly 2 Neighboring gene uncharacterized LOC124903347 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74989151-74990029 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74990491-74991430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74993815-74994316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74994959-74995460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75018058-75018721 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75018722-75019386 Neighboring gene uncharacterized LOC124903346 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:75021824-75022324 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:75022325-75022825 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:75049938-75050130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:75078996-75079623 Neighboring gene uncharacterized LOC101928352 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:75084232-75085431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:75088895-75089761 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75097447-75098096 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:75098097-75098745 Neighboring gene Sharpr-MPRA regulatory region 14689 Neighboring gene uncharacterized LOC105370567

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma.
      Title: A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma.
    2. Integrated bioinformatics analysis and experimental validation on malignant progression and immune cell infiltration of LTBP2 in gliomas.
      Title: Integrated bioinformatics analysis and experimental validation on malignant progression and immune cell infiltration of LTBP2 in gliomas.
    3. Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2.
      Title: Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2.
    4. Identification and phenotypic analysis of novel LTBP2 mutations in a Chinese cohort with congenital ectopia lentis.
      Title: Identification and phenotypic analysis of novel LTBP2 mutations in a Chinese cohort with congenital ectopia lentis.
    5. Plasma LTBP2 as a potential biomarker in differential diagnosis of connective tissue disease-associated interstitial lung disease and idiopathic pulmonary fibrosis: a pilot study.
      Title: Plasma LTBP2 as a potential biomarker in differential diagnosis of connective tissue disease-associated interstitial lung disease and idiopathic pulmonary fibrosis: a pilot study.
    6. LTBP2 Knockdown Promotes Ferroptosis in Gastric Cancer Cells through p62-Keap1-Nrf2 Pathway.
      Title: LTBP2 Knockdown Promotes Ferroptosis in Gastric Cancer Cells through p62-Keap1-Nrf2 Pathway.
    7. The prognostic significance of LTBP2 for malignant tumors: Evidence based on 11 observational studies.
      Title: The prognostic significance of LTBP2 for malignant tumors: Evidence based on 11 observational studies.
    8. CircWHSC1 expedites cervical cancer progression via miR-532-3p/LTBP2 axis.
      Title: CircWHSC1 expedites cervical cancer progression via miR-532-3p/LTBP2 axis.
    9. Latent TGFbeta-binding proteins regulate UCP1 expression and function via TGFbeta2.
      Title: Latent TGFβ-binding proteins regulate UCP1 expression and function via TGFβ2.
    10. An Insight into Primary Congenital Glaucoma.
      Title: An Insight into Primary Congenital Glaucoma.
    Submit: New GeneRIF Correction See all GeneRIFs (58)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    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
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in protein secretion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in protein targeting TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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 
    involved_in transforming growth factor beta receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    colocalizes_with collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in extracellular matrix TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region HDA PubMed 
    located_in extracellular space HDA PubMed 

    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.

    Genomic

    1. NG_021486.2 RefSeqGene

      Range
      5000..119054
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000428.3 → NP_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, Q99907, Q9NS51
      UniProtKB/TrEMBL
      Q6AZ94
      Related
      ENSP00000261978.4, ENST00000261978.9
      Conserved Domains (4) summary
      smart00179
      Location:930 → 960
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:1303 → 1335
      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:1423 → 1458
      TB; TB domain
      pfam07645
      Location:1218 → 1257
      EGF_CA; Calcium-binding EGF domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      74498183..74612237 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      68707154..68821330 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14767.3 GenPept UniProtKB/Swiss-Prot:Q14767

    Gene LinkOut

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