Seroatlas · Human Serome Atlas

BORCS8

BLOC-1-related complex subunit 8

Also known as: BORC8_HUMAN, MEF2BNB

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q96FH0
Gene: BORCS8
Ensembl: ENSG00000254901
Chromosome: 19
Canonical length: 119 aa
Protein class: Predicted intracellular proteins
Subcellular location: Vesicles

OverviewNCBI Gene

Involved in heart development. Part of BORC complex. [provided by Alliance of Genome Resources, Jul 2025]

Canonical amino-acid sequenceUniProt

119 residues, UniProt reviewed canonical sequence.

>Q96FH0|BORCS8
     1  MEEPEMQLKG KKVTDKFTES VYVLANEPSV ALYRLQEHVR RSLPELAQHK ADMQRWEEQS
    61  QGAIYTVEYA CSAVKNLVDS SVYFRSVEGL LKQAISIRDH MNASAQGHSP EEPPPPSSA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BORCS8 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.51
Highest tissue expression: 32 nTPM

Expression across tissuesHPA

Tissue

cerebral cortex: 32 nTPM
hypothalamus: 31 nTPM
kidney: 28 nTPM
choroid plexus: 28 nTPM
basal ganglia: 27 nTPM
skeletal muscle: 26 nTPM

Single-cell type

megakaryocytes: 6.2 nCPM
epicardial cells: 4.5 nCPM
adipocytes: 2.7 nCPM
cardiomyocytes: 1.9 nCPM
fallopian tube ciliated cells: 1.9 nCPM
neutrophils: 1.7 nCPM

Immune cell

neutrophil: 80 nTPM
eosinophil: 57 nTPM
non-classical monocyte: 46 nTPM
basophil: 45 nTPM
intermediate monocyte: 45 nTPM
classical monocyte: 32 nTPM

Brain region

hypothalamus: 21 nTPM
pons: 19 nTPM
cerebral cortex: 18 nTPM
medulla oblongata: 18 nTPM
white matter: 17 nTPM
midbrain: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BORCS8.

Disease | AllUniProt

Conditions BORCS8 is implicated in, by any mechanism.

Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities (NDOABA) MIM:620987

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 34 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
Semilobar holoprosencephaly

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.55
gnomAD pLI: 0
DepMap mean gene effect: -0.16
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

BLOC-1-related complex subunit 8
BLOC-1-related complex sub-unit 8

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BORCS8 as an antibody target. Whether an autoantibody or antibody against BORCS8 could matter depends on whether native BORCS8 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BORCS8 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label BORCS8 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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