Seroatlas · Human Serome Atlas

EXOC6B

Exocyst complex component 6B

Also known as: EXC6B_HUMAN, KIAA0919, SEC15B, SEC15L2

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

Protein identityUniProt · HPA

UniProt accession
Q9Y2D4
Gene
EXOC6B
Ensembl
ENSG00000144036
Chromosome
2
Canonical length
811 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Nuclear bodies,Cytosol

OverviewNCBI Gene

This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]

Canonical amino-acid sequenceUniProt

811 residues, UniProt reviewed canonical sequence.

>Q9Y2D4|EXOC6B
     1  MERGKMAEAE SLETAAEHER ILREIESTDT ACIGPTLRSV YDGEEHGRFM EKLETRIRNH
    61  DREIEKMCNF HYQGFVDSIT ELLKVRGEAQ KLKNQVTDTN RKLQHEGKEL VIAMEELKQC
   121  RLQQRNISAT VDKLMLCLPV LEMYSKLRDQ MKTKRHYPAL KTLEHLEHTY LPQVSHYRFC
   181  KVMVDNIPKL REEIKDVSMS DLKDFLESIR KHSDKIGETA MKQAQQQRNL DNIVLQQPRI
   241  GSKRKSKKDA YIIFDTEIES TSPKSEQDSG ILDVEDEEDD EEVPGAQDLV DFSPVYRCLH
   301  IYSVLGARET FENYYRKQRR KQARLVLQPP SNMHETLDGY RKYFNQIVGF FVVEDHILHT
   361  TQGLVNRAYI DELWEMALSK TIAALRTHSS YCSDPNLVLD LKNLIVLFAD TLQVYGFPVN
   421  QLFDMLLEIR DQYSETLLKK WAGIFRNILD SDNYSPIPVT SEEMYKKVVG QFPFQDIELE
   481  KQPFPKKFPF SEFVPKVYNQ IKEFIYACLK FSEDLHLSST EVDDMIRKST NLLLTRTLSN
   541  SLQNVIKRKN IGLTELVQII INTTHLEKSC KYLEEFITNI TNVLPETVHT TKLYGTTTFK
   601  DARHAAEEEI YTNLNQKIDQ FLQLADYDWM TGDLGNKASD YLVDLIAFLR STFAVFTHLP
   661  GKVAQTACMS ACKHLATSLM QLLLEAEVRQ LTLGALQQFN LDVRECEQFA RSGPVPGFQE
   721  DTLQLAFIDL RQLLDLFIQW DWSTYLADYG QPNCKYLRVN PVTALTLLEK MKDTSRKNNM
   781  FAQFRKNERD KQKLIDTVAK QLRGLISSHH S

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EXOC6B 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
Cell surface
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.33
Highest tissue expression
48 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 48 nTPM
  • skin: 25 nTPM
  • cerebral cortex: 19 nTPM
  • midbrain: 19 nTPM
  • basal ganglia: 18 nTPM
  • hippocampal formation: 17 nTPM

Single-cell type

  • cardiomyocytes: 1,238 nCPM
  • oligodendrocytes: 1,150 nCPM
  • suprabasal keratinocytes: 990 nCPM
  • foveolar cells: 809 nCPM
  • enterocytes: 749 nCPM
  • basal keratinocytes: 728 nCPM

Immune cell

  • basophil: 1.3 nTPM
  • naive CD8 T-cell: 0.9 nTPM
  • T-reg: 0.8 nTPM
  • gdT-cell: 0.7 nTPM
  • memory B-cell: 0.7 nTPM
  • naive B-cell: 0.7 nTPM

Brain region

  • white matter: 109 nTPM
  • basal ganglia: 92 nTPM
  • midbrain: 81 nTPM
  • hypothalamus: 78 nTPM
  • medulla oblongata: 76 nTPM
  • cerebral cortex: 75 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EXOC6B.

Disease | AllUniProt

Conditions EXOC6B is implicated in, by any mechanism.

  • Spondyloepimetaphyseal dysplasia with joint laxity, 3 (SEMDJL3) MIM:618395

Disease | GeneticClinVar

14 pathogenic / likely-pathogenic of 342 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Spondyloepimetaphyseal dysplasia with joint laxity, type 3

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)
0.4
gnomAD pLI
0.12
gnomAD missense Z
2.09
DepMap mean gene effect
-0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EXOC6B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads EXOC6B as an antibody target. Whether an autoantibody or antibody against EXOC6B could matter depends on whether native EXOC6B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EXOC6B is annotated at the cell surface, where native EXOC6B is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label EXOC6B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/EXOC6B. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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