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

Gene ID: 729991, updated on 15-Jan-2022

Summary

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
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
MEF2BNB
Summary
Involved in heart development. Part of BORC complex. [provided by Alliance of Genome Resources, Nov 2021]
Expression
Ubiquitous expression in fat (RPKM 4.9), kidney (RPKM 4.7) and 25 other tissues See more
Orthologs
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Genomic context

See BORCS8 in Genome Data Viewer
Location:
19p13.11
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (19176906..19192152, complement)
105.20201022 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 transmembrane protein 161A Neighboring gene BORCS8-MEF2B readthrough Neighboring gene myocyte enhancer factor 2B Neighboring gene regulatory factor X associated ankyrin containing protein Neighboring gene Sharpr-MPRA regulatory region 11890 Neighboring gene nuclear receptor 2C2 associated protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
Component Evidence Code Pubs
part_of BORC complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of BORC complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of BORC complex IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

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

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_001145783.2NP_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:8109
    BORCS8; BLOC-1-related complex sub-unit 8
  2. NM_001145784.2NP_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
    Q96FH0
    Related
    ENSP00000425864.1, ENST00000462790.8
    Conserved Domains (1) summary
    pfam10167
    Location:8104
    BORCS8; BLOC-1-related complex sub-unit 8

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

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