U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

    Ltbp4 latent transforming growth factor beta binding protein 4 [ Mus musculus (house mouse) ]

    Gene ID: 108075, updated on 9-Dec-2024

    Summary

    Official Symbol
    Ltbp4provided by MGI
    Official Full Name
    latent transforming growth factor beta binding protein 4provided by MGI
    Primary source
    MGI:MGI:1321395
    See related
    Ensembl:ENSMUSG00000040488 AllianceGenome:MGI:1321395
    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
    Also known as
    2310046A13Rik
    Summary
    Predicted to enable transforming growth factor beta binding activity. Involved in elastic fiber assembly. Acts upstream of or within hormone secretion and transforming growth factor beta receptor signaling pathway. Located in microfibril. Is expressed in aorta; blood vessel; ovary; and oviduct. Used to study cutis laxa. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IC. Orthologous to human LTBP4 (latent transforming growth factor beta binding protein 4). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in lung adult (RPKM 180.5), ovary adult (RPKM 138.8) and 17 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Ltbp4 in Genome Data Viewer
    Location:
    7 A3; 7 15.87 cM
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (27004566..27039142, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (27305140..27339720, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E2229 Neighboring gene coenzyme Q8B Neighboring gene STARR-positive B cell enhancer ABC_E4906 Neighboring gene numb-like Neighboring gene ribosomal protein L14 pseudogene Neighboring gene STARR-seq mESC enhancer starr_18356 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:28101108-28101366 Neighboring gene STARR-positive B cell enhancer ABC_E4907 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:28117793-28117976 Neighboring gene predicted gene, 30543 Neighboring gene STARR-positive B cell enhancer ABC_E1726 Neighboring gene STARR-positive B cell enhancer ABC_E1727 Neighboring gene Sh3kbp1 binding protein 1 Neighboring gene STARR-positive B cell enhancer ABC_E2820 Neighboring gene spectrin beta, non-erythrocytic 4 Neighboring gene STARR-seq mESC enhancer starr_18360 Neighboring gene STARR-positive B cell enhancer ABC_E4908

    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)

    Pathways from PubChem

    General gene information

    Markers

    Clone Names

    • MGC175966

    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 protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables transforming growth factor beta binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables transforming growth factor beta binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables transforming growth factor beta binding ISO
    Inferred from Sequence Orthology
    more info
     
    Component Evidence Code Pubs
    located_in collagen-containing extracellular matrix HDA PubMed 
    located_in collagen-containing extracellular matrix IEA
    Inferred from Electronic Annotation
    more info
     
    located_in collagen-containing extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular matrix ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microfibril IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    latent-transforming growth factor beta-binding protein 4
    Names
    LTBP-4

    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.

    mRNA and Protein(s)

    1. NM_001113549.1NP_001107021.1  latent-transforming growth factor beta-binding protein 4 isoform b precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AF410799, BC059016, BP765237, BY740857
      Consensus CDS
      CCDS52158.1
      UniProtKB/TrEMBL
      D3Z598
      Related
      ENSMUSP00000113674.2, ENSMUST00000121175.8
      Conserved Domains (4) summary
      smart00179
      Location:854890
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:811843
      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:351386
      TB; TB domain
      pfam12662
      Location:544567
      cEGF; Complement Clr-like EGF-like
    2. NM_001310678.1NP_001297607.1  latent-transforming growth factor beta-binding protein 4 isoform 3 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in both the 5' and 3' UTRs and coding region compared to variant 1. The resulting isoform (3) has a shorter and distinct N-terminus and a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC157561, AK147753
      Consensus CDS
      CCDS80683.1
      UniProtKB/TrEMBL
      Q3UGU1
      Related
      ENSMUST00000206413.2
      Conserved Domains (4) summary
      smart00179
      Location:854890
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:811843
      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:351386
      TB; TB domain
      pfam12662
      Location:544567
      cEGF; Complement Clr-like EGF-like
    3. NM_175641.2NP_783572.2  latent-transforming growth factor beta-binding protein 4 isoform a precursor

      See identical proteins and their annotated locations for NP_783572.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AF410798, BC059016, BP765237
      Consensus CDS
      CCDS21017.1
      UniProtKB/Swiss-Prot
      E9QPD9, Q8K4G0, Q8K4G1
      UniProtKB/TrEMBL
      B2RU79
      Related
      ENSMUSP00000037536.7, ENSMUST00000038618.13
      Conserved Domains (5) summary
      smart00179
      Location:920956
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:877909
      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:417458
      TB; TB domain
      pfam12662
      Location:610633
      cEGF; Complement Clr-like EGF-like
      cl21504
      Location:11331161
      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 ...

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      27004566..27039142 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006539458.4XP_006539521.1  latent-transforming growth factor beta-binding protein 4 isoform X3

      UniProtKB/TrEMBL
      B2RU79
      Conserved Domains (4) summary
      smart00179
      Location:793829
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:750782
      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:290332
      TB; TB domain
      pfam12662
      Location:483506
      cEGF; Complement Clr-like EGF-like
    2. XM_030241972.2XP_030097832.1  latent-transforming growth factor beta-binding protein 4 isoform X4

      UniProtKB/TrEMBL
      D3Z598
      Conserved Domains (4) summary
      smart00179
      Location:728764
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:685717
      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:225267
      TB; TB domain
      pfam12662
      Location:418441
      cEGF; Complement Clr-like EGF-like
    3. XM_006539457.5XP_006539520.1  latent-transforming growth factor beta-binding protein 4 isoform X2

      UniProtKB/TrEMBL
      B2RU79
      Conserved Domains (4) summary
      smart00179
      Location:920956
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:877909
      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:417459
      TB; TB domain
      pfam12662
      Location:610633
      cEGF; Complement Clr-like EGF-like
    4. XM_036152563.1XP_036008456.1  latent-transforming growth factor beta-binding protein 4 isoform X1

      UniProtKB/TrEMBL
      B2RU79
      Conserved Domains (4) summary
      smart00179
      Location:889925
      EGF_CA; Calcium-binding EGF-like domain
      cd00054
      Location:846878
      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:386428
      TB; TB domain
      pfam12662
      Location:579602
      cEGF; Complement Clr-like EGF-like