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    BLTP2 bridge-like lipid transfer protein family member 2 [ Homo sapiens (human) ]

    Gene ID: 9703, updated on 27-Nov-2024

    Summary

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    Official Symbol
    BLTP2provided by HGNC
    Official Full Name
    bridge-like lipid transfer protein family member 2provided by HGNC
    Primary source
    HGNC:HGNC:28960
    See related
    Ensembl:ENSG00000007202 MIM:610664; AllianceGenome:HGNC:28960
    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
    Hob; BCOX; BCOX1; CT101; FMP27; KIAA0100
    Summary
    This gene was initially characterized in human as having high expression levels in breast carcinomas and breast cancer cell lines. This gene also has increased expression in prostrate cancer cells relative to normal prostrate tissues. Expression of this gene is negatively regulated by direct binding of the microRNA miR-195 to its 3' UTR. miR-195 has been shown to modulate the invasiveness of prostrate cancer cells and xenograft metastases by downgrading expression of this gene. In mouse, the protein encoded by this gene was identified as an antigen on acute monocytic leukemia cells. In human, alternative splicing results in multiple transcript variants encoding distinct isoforms; some of these isoforms are predicted to contain an RNA pol II promoter FMP27 protein domain and a Golgi-body-localization APT1 domain. [provided by RefSeq, Apr 2017]
    Expression
    Ubiquitous expression in kidney (RPKM 27.5), thyroid (RPKM 25.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BLTP2 in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28614440..28645159, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29557164..29587883, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26941458..26972177, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene sperm associated antigen 5 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:26925705-26926249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11934 Neighboring gene SPAG5 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:26938368-26939567 Neighboring gene ribosomal protein S6 kinase related Neighboring gene ReSE screen-validated silencer GRCh37_chr17:26954912-26955086 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8347 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr17:26988611-26989810 Neighboring gene stromal cell derived factor 2 Neighboring gene ribosomal protein S12 pseudogene 28 Neighboring gene SPT6 homolog, histone chaperone and transcription elongation factor Neighboring gene Sharpr-MPRA regulatory region 10516

    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
    • 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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    Related articles in PubMed

    1. Circ_0000520 interacts with miR-512-5p to upregulate KIAA0100 to promote malignant behaviors in lung cancer. Wang L, et al. Histol Histopathol, 2023 Jan. PMID 35866672
    2. High levels of BCOX1 expression are associated with poor prognosis in patients with invasive ductal carcinomas of the breast. Liu T, et al. PLoS One, 2014. PMID 24489812, Free PMC Article
    3. Identification of BCOX1, a novel gene overexpressed in breast cancer. Song J, et al. Biochim Biophys Acta, 2006 Jan. PMID 16289875
    4. [Bioinformatic analysis and identification for a novel antigen MLAA-22 in acute monocytic leukemia]. Zhou FL, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2008 Jun. PMID 18549609
    5. KIAA0100 Modulates Cancer Cell Aggression Behavior of MDA-MB-231 through Microtubule and Heat Shock Proteins. Zhong Z, et al. Cancers (Basel), 2018 Jun 4. PMID 29867023, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Circ_0000520 interacts with miR-512-5p to upregulate KIAA0100 to promote malignant behaviors in lung cancer.
      Title: Circ_0000520 interacts with miR-512-5p to upregulate KIAA0100 to promote malignant behaviors in lung cancer.
    2. loss of miR-195 expression and thus uncontrolled BCOX1 upregulation might drive prostate cancer metastasis.
      Title: MicroRNA-195 suppresses tumor cell proliferation and metastasis by directly targeting BCOX1 in prostate carcinoma.
    3. High BCOX1 expression may serve as a novel marker of poor prognosis and a potential therapeutic target for patients with invasive ductal carcinomas of the breast.
      Title: High levels of BCOX1 expression are associated with poor prognosis in patients with invasive ductal carcinomas of the breast.
    4. MLAA-22 is a novel acute monocytic leukemia-associated antigen gene located on chromosome 17q11.2.
      Title: [Bioinformatic analysis and identification for a novel antigen MLAA-22 in acute monocytic leukemia].
    5. BCOX1 mRNA signal is mainly located in the cytoplasm of breast carcinoma epithelial cells. mRNA expression was moderately elevated in ductal in situ carcinoma, peaked in invasive breast carcinoma and metastatic breast carcinoma cells (MET) (BCOX1)
      Title: Identification of BCOX1, a novel gene overexpressed in breast cancer.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC111488, MGC134981, DKFZp686M0843

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    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
    Names
    U937-associated antigen
    antigen MLAA-22
    breast cancer overexpressed gene 1
    breast cancer-overexpressed gene 1 protein
    cancer/testis antigen 101
    protein hobbit homolog

    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_053109.1 RefSeqGene

      Range
      5297..36009
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001321560.2 → NP_001308489.1  bridge-like lipid transfer protein family member 2 isoform 2 precursor

      Status: REVIEWED

      Source sequence(s)
      AC005726
      UniProtKB/TrEMBL
      A0A024QZ66, K7EQ86
      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:1702 → 2175
      Apt1; Golgi-body localization protein domain

    2. NM_001321561.2 → NP_001308490.1  bridge-like lipid transfer protein family member 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AW161205, BC050440
      Related
      ENST00000580882.5
      Conserved Domains (1) summary
      pfam10344
      Location:26 → 410
      Fmp27; Mitochondrial protein from FMP27

    3. NM_001363826.1 → NP_001350755.1  bridge-like lipid transfer protein family member 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC005726
      Consensus CDS
      CCDS86585.1
      UniProtKB/TrEMBL
      A0A024QZ66, K7EQ86, Q08E86
      Related
      ENSP00000467716.1, ENST00000389003.7
      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

    4. NM_001363827.1 → NP_001350756.1  bridge-like lipid transfer protein family member 2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC005726
      UniProtKB/TrEMBL
      A0A024QZ66, K7EQ86

    5. NM_001363828.1 → NP_001350757.1  bridge-like lipid transfer protein family member 2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC005726
      Conserved Domains (2) summary
      pfam10347
      Location:353 → 485
      Fmp27_GFWDK; RNA pol II promoter Fmp27 protein domain
      pfam10351
      Location:1028 → 1501
      Apt1; Golgi-body localization protein domain

    6. NM_001363829.1 → NP_001350758.1  bridge-like lipid transfer protein family member 2 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC005726

    7. NM_014680.5 → NP_055495.2  bridge-like lipid transfer protein family member 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_055495.2

      Status: REVIEWED

      Source sequence(s)
      AW161205, BM999622, D43947, DB152098
      Consensus CDS
      CCDS32595.1
      UniProtKB/Swiss-Prot
      A6NCX3, Q14667, Q3SYN5, Q49A07, Q5H9T4, Q6WG74, Q6ZP51, Q96HH8
      UniProtKB/TrEMBL
      A0A024QZ66, K7EQ86
      Related
      ENSP00000436773.2, ENST00000528896.7
      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_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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      28614440..28645159 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047437146.1 → XP_047293102.1  bridge-like lipid transfer protein family member 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      29557164..29587883 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054317962.1 → XP_054173937.1  bridge-like lipid transfer protein family member 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q14667.3 GenPept UniProtKB/Swiss-Prot:Q14667

    Gene LinkOut

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