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Aliases for BORCS8 Gene

Aliases for BORCS8 Gene

  • BLOC-1 Related Complex Subunit 8 2 3 5
  • MEF2B Neighbor 2 4
  • MEF2BNB 3 4
  • BLOC-1-Related Complex Subunit 8 3
  • MEF2B Neighbor Gene Protein 3
  • Protein MEF2BNB 3

External Ids for BORCS8 Gene

Previous HGNC Symbols for BORCS8 Gene

  • MEF2BNB

Summaries for BORCS8 Gene

GeneCards Summary for BORCS8 Gene

BORCS8 (BLOC-1 Related Complex Subunit 8) is a Protein Coding gene. Among its related pathways are P38 MAPK Signaling Pathway (sino).

UniProtKB/Swiss-Prot for BORCS8 Gene

  • As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor.

Additional gene information for BORCS8 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BORCS8 Gene

Genomics for BORCS8 Gene

Regulatory Elements for BORCS8 Gene

Enhancers for BORCS8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H019031 1.5 FANTOM5 ENCODE 10.2 +159.2 159215 3 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 SLC30A9 ZNF143 ZNF207 FOS TMEM161A ATP13A1 MEF2B RFXANK BORCS8-MEF2B BORCS8 SLC25A42 ARMC6 SUGP2 SUGP1
GH19H019342 1.1 ENCODE dbSUPER 11.3 -150.3 -150286 0 CTCF RB1 ARID4B SIN3A MAX ZNF2 THRB RAD21 POLR2A SCRT2 GATAD2A HAPLN4 BORCS8-MEF2B RFXANK BORCS8 MEF2B GC19M019332 GC19P019690
GH19H019039 1.1 Ensembl ENCODE 10.6 +152.4 152418 2 FOXA2 SAP130 ARID4B MAX CEBPG ZNF384 RAD21 YY1 GATAD2A TEAD1 TMEM161A SLC25A42 MEF2B BORCS8-MEF2B RFXANK BORCS8 HOMER3 HAPLN4 ARMC6 SUGP2
GH19H019094 1 ENCODE 10.8 +96.6 96588 3 FOXA2 ATF1 MLX ARID4B DMAP1 YY1 TCF12 SLC30A9 ATF7 SP5 SLC25A42 TMEM161A MEF2B BORCS8 BORCS8-MEF2B RFXANK ARMC6 GC19P019886
GH19H019112 0.9 Ensembl ENCODE 11.8 +79.4 79383 0 CTCF POLR2A GLIS1 SP2 ZNF600 REST SMAD4 RAD21 TMEM161A SLC25A42 ARMC6 SUGP2 MEF2B BORCS8 BORCS8-MEF2B RFXANK HAPLN4 GC19P019886
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BORCS8 on UCSC Golden Path with GeneCards custom track

Promoters for BORCS8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000108210 191 2401 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207

Genomic Location for BORCS8 Gene

Chromosome:
19
Start:
19,176,903 bp from pter
End:
19,192,591 bp from pter
Size:
15,689 bases
Orientation:
Minus strand

Genomic View for BORCS8 Gene

Genes around BORCS8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BORCS8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BORCS8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BORCS8 Gene

Proteins for BORCS8 Gene

  • Protein details for BORCS8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96FH0-BORC8_HUMAN
    Recommended name:
    BLOC-1-related complex subunit 8
    Protein Accession:
    Q96FH0
    Secondary Accessions:
    • B2RXF9
    • Q9BT01

    Protein attributes for BORCS8 Gene

    Size:
    119 amino acids
    Molecular mass:
    13403 Da
    Quaternary structure:
    • Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN.

    Alternative splice isoforms for BORCS8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BORCS8 Gene

Post-translational modifications for BORCS8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BORCS8 Gene

No data available for DME Specific Peptides for BORCS8 Gene

Domains & Families for BORCS8 Gene

Gene Families for BORCS8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for BORCS8 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for BORCS8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96FH0

UniProtKB/Swiss-Prot:

BORC8_HUMAN :
  • Belongs to the BORCS8 family.
Family:
  • Belongs to the BORCS8 family.
genes like me logo Genes that share domains with BORCS8: view

Function for BORCS8 Gene

Molecular function for BORCS8 Gene

UniProtKB/Swiss-Prot Function:
As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor.

Phenotypes From GWAS Catalog for BORCS8 Gene

Gene Ontology (GO) - Molecular Function for BORCS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with BORCS8: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BORCS8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for BORCS8 Gene

Localization for BORCS8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BORCS8 Gene

Lysosome membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BORCS8 gene
Compartment Confidence
cytosol 5
lysosome 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BORCS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0016020 membrane IEA --
GO:0099078 BORC complex IDA 25898167
genes like me logo Genes that share ontologies with BORCS8: view

Pathways & Interactions for BORCS8 Gene

genes like me logo Genes that share pathways with BORCS8: view

Pathways by source for BORCS8 Gene

1 Sino Biological pathway for BORCS8 Gene

Gene Ontology (GO) - Biological Process for BORCS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007507 heart development IEP 10458488
genes like me logo Genes that share ontologies with BORCS8: view

No data available for SIGNOR curated interactions for BORCS8 Gene

Drugs & Compounds for BORCS8 Gene

No Compound Related Data Available

Transcripts for BORCS8 Gene

mRNA/cDNA for BORCS8 Gene

(2) REFSEQ mRNAs :
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BORCS8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for BORCS8 Gene

No ASD Table

Relevant External Links for BORCS8 Gene

GeneLoc Exon Structure for
BORCS8
ECgene alternative splicing isoforms for
BORCS8

Expression for BORCS8 Gene

NURSA nuclear receptor signaling pathways regulating expression of BORCS8 Gene:

BORCS8

Evidence on tissue expression from TISSUES for BORCS8 Gene

  • Nervous system(4)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BORCS8 Gene

Orthologs for BORCS8 Gene

This gene was present in the common ancestor of animals.

Orthologs for BORCS8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MEF2BNB 34 33
  • 99.69 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MEF2BNB 34 33
  • 90.76 (n)
OneToMany
-- 34
  • 76 (a)
OneToMany
dog
(Canis familiaris)
Mammalia MEF2BNB 34 33
  • 89.92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia 2310045N01Rik 33
  • 87.65 (n)
Borcs8 16
rat
(Rattus norvegicus)
Mammalia Mef2bnb 33
  • 86.42 (n)
oppossum
(Monodelphis domestica)
Mammalia MEF2BNB 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves MEF2BNB 34 33
  • 81.13 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mef2bnb 33
  • 71.52 (n)
zebrafish
(Danio rerio)
Actinopterygii mef2bnb 34 33
  • 66.98 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008600 33
  • 53.47 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG32590 33 34
  • 49.14 (n)
worm
(Caenorhabditis elegans)
Secernentea K11B4.2 34
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 27 (a)
OneToOne
Species where no ortholog for BORCS8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for BORCS8 Gene

ENSEMBL:
Gene Tree for BORCS8 (if available)
TreeFam:
Gene Tree for BORCS8 (if available)

Paralogs for BORCS8 Gene

Pseudogenes.org Pseudogenes for BORCS8 Gene

genes like me logo Genes that share paralogs with BORCS8: view

No data available for Paralogs for BORCS8 Gene

Variants for BORCS8 Gene

Sequence variations from dbSNP and Humsavar for BORCS8 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1050483 Likely benign 19,192,993(+) TCCAG(C/T)TTGCC upstream-variant-2KB, utr-variant-5-prime
rs116660619 Likely benign 19,192,338(+) CGCGA(A/C)GGCCA nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs34282046 Likely benign 19,194,090(+) CCTGA(C/G)CCTGT upstream-variant-2KB, reference, missense
rs62135502 Likely benign 19,192,376(+) GGAGA(A/G/T)GGGGA nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime
rs73922821 Likely benign 19,192,464(+) CCGCA(A/T)AAACT nc-transcript-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for BORCS8 Gene

Variant ID Type Subtype PubMed ID
nsv1151217 CNV deletion 26484159
nsv833779 CNV loss 17160897

Variation tolerance for BORCS8 Gene

Gene Damage Index Score: 3.10; 51.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BORCS8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BORCS8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BORCS8 Gene

Disorders for BORCS8 Gene

Relevant External Links for BORCS8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BORCS8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BORCS8

No disorders were found for BORCS8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BORCS8 Gene

Publications for BORCS8 Gene

  1. BORC, a multisubunit complex that regulates lysosome positioning. (PMID: 25898167) Pu J … Bonifacino JS (Developmental cell 2015) 2 3 4 60
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  4. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. (PMID: 27107012) Yachie N … Roth FP (Molecular systems biology 2016) 3 60
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 60

Products for BORCS8 Gene

Sources for BORCS8 Gene

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