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    Bltp2 bridge-like lipid transfer protein family member 2 [ Mus musculus (house mouse) ]

    Gene ID: 72503, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Bltp2provided by MGI
    Official Full Name
    bridge-like lipid transfer protein family member 2provided by MGI
    Primary source
    MGI:MGI:1919753
    See related
    Ensembl:ENSMUSG00000010277 AllianceGenome:MGI:1919753
    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
    E1; mKIAA0100; D11Bhm178e; D11Bhm179e; 2610507B11Rik
    Summary
    Predicted to enable phosphatidylinositol binding activity. Predicted to be located in endoplasmic reticulum-plasma membrane contact site. Is expressed in several structures, including adrenal medulla; glans of male genital tubercle; gut; nasal cavity epithelium; and nervous system. Orthologous to human BLTP2 (bridge-like lipid transfer protein family member 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis adult (RPKM 45.9), kidney adult (RPKM 37.8) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Bltp2 in Genome Data Viewer
    Location:
    11 B5; 11 46.74 cM
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (78152476..78181451)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (78261650..78290625)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:78029402-78029555 Neighboring gene SPT6, histone chaperone and transcription elongation factor Neighboring gene STARR-seq mESC enhancer starr_30092 Neighboring gene small nuclear ribonucleoprotein N pseudogene Neighboring gene stromal cell derived factor 2 Neighboring gene STARR-positive B cell enhancer ABC_E9832 Neighboring gene predicted gene 3948 Neighboring gene ribosomal protein S6 kinase related Neighboring gene sperm associated antigen 5

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. YAC/P1 contigs defining the location of 56 microsatellite markers and several genes across a 3.4-cM interval on mouse chromosome 11. Nehls M, et al. Mamm Genome, 1995 May. PMID 7626882
    2. A CRISPR-based screen for Hedgehog signaling provides insights into ciliary function and ciliopathies. Breslow DK, et al. Nat Genet, 2018 Mar. PMID 29459677, Free PMC Article
    3. Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. Okazaki N, et al. DNA Res, 2003 Feb 28. PMID 12693553
    4. BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING). Motani K, et al. J Biol Chem, 2020 Aug 7. PMID 32554809, Free PMC Article
    5. Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Ko MS, et al. Development, 2000 Apr. PMID 10725249

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0100

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    enables phosphatidylinositol binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum-plasma membrane contact site ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in mitochondrial membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    bridge-like lipid transfer protein family member 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)

    1. NM_001002004.2 → NP_001002004.2  bridge-like lipid transfer protein family member 2 precursor

      See identical proteins and their annotated locations for NP_001002004.2

      Status: VALIDATED

      Source sequence(s)
      AK029280, AK149719, AK150829, BC075633
      Consensus CDS
      CCDS25097.1
      UniProtKB/Swiss-Prot
      Q3UE65, Q5SYL3, Q66JY1, Q6DIC4, Q80U77, Q8C1W6, Q8CE06, Q8CGE3, Q9CSS8
      Related
      ENSMUSP00000010421.7, ENSMUST00000010421.7
      Conserved Domains (3) summary
      pfam10344
      Location:26 → 674
      Fmp27; Mitochondrial protein from FMP27
      pfam10347
      Location:1028 → 1160
      Fmp27_GFWDK; RNA pol II promoter Fmp27 protein domain
      pfam10351
      Location:1703 → 2176
      Apt1; Golgi-body localization protein domain

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      78152476..78181451
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006534313.3 → XP_006534376.1  bridge-like lipid transfer protein family member 2 isoform X2

      Conserved Domains (2) summary
      pfam10344
      Location:26 → 674
      Fmp27; Mitochondrial protein from FMP27
      pfam10347
      Location:1028 → 1160
      Fmp27_GFWDK; RNA pol II promoter Fmp27 protein domain

    2. XM_006534312.3 → XP_006534375.1  bridge-like lipid transfer protein family member 2 isoform X1

      Conserved Domains (3) summary
      pfam10344
      Location:1 → 531
      Fmp27; Mitochondrial protein from FMP27
      pfam10347
      Location:885 → 1017
      Fmp27_GFWDK; RNA pol II promoter Fmp27 protein domain
      pfam10351
      Location:1560 → 2033
      Apt1; Golgi-body localization protein domain

    3. XM_030246365.2 → XP_030102225.1  bridge-like lipid transfer protein family member 2 isoform X1

      Conserved Domains (3) summary
      pfam10344
      Location:1 → 531
      Fmp27; Mitochondrial protein from FMP27
      pfam10347
      Location:885 → 1017
      Fmp27_GFWDK; RNA pol II promoter Fmp27 protein domain
      pfam10351
      Location:1560 → 2033
      Apt1; Golgi-body localization protein domain

    RNA

    1. XR_001780057.3 RNA Sequence

    2. XR_001780058.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5SYL3.1 GenPept UniProtKB/Swiss-Prot:Q5SYL3

    Gene LinkOut

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