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

Gene ID: 9703, updated on 27-Aug-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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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)
105.20220307 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 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. 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
  3. 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
  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. Identification of BCOX1, a novel gene overexpressed in breast cancer. Song J, et al. Biochim Biophys Acta, 2006 Jan. PMID 16289875

See all (28) 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

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