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

    Gene ID: 4053, updated on 27-Nov-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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 Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Glaucoma 3, primary congenital, D
    MedGen: C2751316 OMIM: 613086 GeneReviews: Primary Congenital Glaucoma
    not available
    Glaucoma 3, primary infantile, B
    MedGen: C1832977 OMIM: 600975 GeneReviews: Primary Congenital Glaucoma
    not available
    Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
    MedGen: C3538951 OMIM: 251750 GeneReviews: Not available
    not available
    Weill-Marchesani syndrome 3
    MedGen: C3553785 OMIM: 614819 GeneReviews: Weill-Marchesani Syndrome
    not available

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 

    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.

    Genomic

    1. NG_021486.2 RefSeqGene

      Range
      5000..119054
      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, Q99907, Q9NS51
      UniProtKB/TrEMBL
      Q6AZ94
      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: 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)