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    BORCS8 BLOC-1 related complex subunit 8 [ Homo sapiens (human) ]

    Gene ID: 729991, updated on 2-Nov-2024

    Summary

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    Official Symbol
    BORCS8provided by HGNC
    Official Full Name
    BLOC-1 related complex subunit 8provided by HGNC
    Primary source
    HGNC:HGNC:37247
    See related
    Ensembl:ENSG00000254901 MIM:616601; AllianceGenome:HGNC:37247
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NDOABA; MEF2BNB
    Summary
    Involved in heart development. Part of BORC complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in fat (RPKM 4.9), kidney (RPKM 4.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BORCS8 in Genome Data Viewer
    Location:
    19p13.11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19176906..19192152, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19313447..19328701, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19287715..19302961, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr19:19230026-19230212 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19230180-19230759 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19230760-19231338 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19231339-19231917 Neighboring gene transmembrane protein 161A Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19248669-19249530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14337 Neighboring gene BORCS8-MEF2B readthrough Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14338 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10433 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14339 Neighboring gene myocyte enhancer factor 2B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19271207-19272182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14340 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10435 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19281232-19281995 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19282939-19283545 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19285189-19285690 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19296281-19296782 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14342 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:19305905-19306056 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:19313199-19313465 Neighboring gene regulatory factor X associated ankyrin containing protein Neighboring gene Sharpr-MPRA regulatory region 11890 Neighboring gene nuclear receptor 2C2 associated protein Neighboring gene Sharpr-MPRA regulatory region 3423 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:19324416-19324916 Neighboring gene OCT4-H3K4me1 hESC enhancer GRCh37_chr19:19324917-19325417 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14343 Neighboring gene neurocan Neighboring gene RNA, U6 small nuclear 1028, pseudogene

    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. Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics. De Pace R, et al. Brain, 2024 May 3. PMID 38128568, Free PMC Article
    2. BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain. Tunganuntarat J, et al. Sci Rep, 2023 Jan 30. PMID 36717601, Free PMC Article
    3. Expression of MEF2 genes during human cardiac development. Iida K, et al. Tohoku J Exp Med, 1999 Jan. PMID 10458488
    4. Biogenesis of lysosome-related organelles complex-1 (BORC) regulates late endosomal/lysosomal size through PIKfyve-dependent phosphatidylinositol-3,5-bisphosphate. Yordanov TE, et al. Traffic, 2019 Sep. PMID 31314175, Free PMC Article
    5. BORC, a multisubunit complex that regulates lysosome positioning. Pu J, et al. Dev Cell, 2015 Apr 20. PMID 25898167, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
      Title: Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.
    2. BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain.
      Title: BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain.
    3. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • AK128256, FLJ32599, FLJ46391, MGC189732, MGC189763

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in heart development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in lysosome localization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in organelle transport along microtubule NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of endosome size NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of lysosome size NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of BORC complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of BORC complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of BORC complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytoplasmic side of lysosomal membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    BLOC-1-related complex subunit 8
    Names
    MEF2B neighbor gene protein
    protein MEF2BNB

    NCBI Reference Sequences (RefSeq)

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    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_001145783.2 → NP_001139255.1  BLOC-1-related complex subunit 8 isoform 2

      See identical proteins and their annotated locations for NP_001139255.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice pattern in the 3' coding region, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      BC004449, BQ186686, DA440390
      Consensus CDS
      CCDS54235.1
      UniProtKB/Swiss-Prot
      Q96FH0
      Related
      ENSP00000424833.1, ENST00000477565.3
      Conserved Domains (1) summary
      pfam10167
      Location:8 → 109
      BORCS8; BLOC-1-related complex sub-unit 8

    2. NM_001145784.2 → NP_001139256.1  BLOC-1-related complex subunit 8 isoform 1

      See identical proteins and their annotated locations for NP_001139256.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).
      Source sequence(s)
      BC004449, BC010931, CA421006, DA440390
      Consensus CDS
      CCDS46025.1
      UniProtKB/Swiss-Prot
      B2RXF9, Q96FH0, Q9BT01
      Related
      ENSP00000425864.1, ENST00000462790.8
      Conserved Domains (1) summary
      pfam10167
      Location:8 → 104
      BORCS8; BLOC-1-related complex sub-unit 8

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      19176906..19192152 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      19313447..19328701 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96FH0.1 GenPept UniProtKB/Swiss-Prot:Q96FH0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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