Seroatlas · Human Serome Atlas

EXOC2

Exocyst complex component 2

Also known as: EXOC2_HUMAN, FLJ11026, Sec5, SEC5L1

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

Protein identityUniProt · HPA

UniProt accession: Q96KP1
Gene: EXOC2
Ensembl: ENSG00000112685
Chromosome: 6
Canonical length: 924 aa
Protein class: Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, RAS pathway related proteins, Transporters
Subcellular location: Vesicles

OverviewNCBI Gene

The protein encoded by this gene is a component of the exocyst complex, a multi-protein complex essential for the polarized targeting of exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and the functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. This interaction has been shown to mediate filopodia formation in fibroblasts. This protein has been shown to interact with the Ral subfamily of GTPases and thereby mediate exocytosis by tethering vesicles to the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

Canonical amino-acid sequenceUniProt

924 residues, UniProt reviewed canonical sequence.

>Q96KP1|EXOC2
     1  MSRSRQPPLV TGISPNEGIP WTKVTIRGEN LGTGPTDLIG LTICGHNCLL TAEWMSASKI
    61  VCRVGQAKND KGDIIVTTKS GGRGTSTVSF KLLKPEKIGI LDQSAVWVDE MNYYDMRTDR
   121  NKGIPPLSLR PANPLGIEIE KSKFSQKDLE MLFHGMSADF TSENFSAAWY LIENHSNTSF
   181  EQLKMAVTNL KRQANKKSEG SLAYVKGGLS TFFEAQDALS AIHQKLEADG TEKVEGSMTQ
   241  KLENVLNRAS NTADTLFQEV LGRKDKADST RNALNVLQRF KFLFNLPLNI ERNIQKGDYD
   301  VVINDYEKAK SLFGKTEVQV FKKYYAEVET RIEALRELLL DKLLETPSTL HDQKRYIRYL
   361  SDLHASGDPA WQCIGAQHKW ILQLMHSCKE GYVKDLKGNP GLHSPMLDLD NDTRPSVLGH
   421  LSQTASLKRG SSFQSGRDDT WRYKTPHRVA FVEKLTKLVL SQLPNFWKLW ISYVNGSLFS
   481  ETAEKSGQIE RSKNVRQRQN DFKKMIQEVM HSLVKLTRGA LLPLSIRDGE AKQYGGWEVK
   541  CELSGQWLAH AIQTVRLTHE SLTALEIPND LLQTIQDLIL DLRVRCVMAT LQHTAEEIKR
   601  LAEKEDWIVD NEGLTSLPCQ FEQCIVCSLQ SLKGVLECKP GEASVFQQPK TQEEVCQLSI
   661  NIMQVFIYCL EQLSTKPDAD IDTTHLSVDV SSPDLFGSIH EDFSLTSEQR LLIVLSNCCY
   721  LERHTFLNIA EHFEKHNFQG IEKITQVSMA SLKELDQRLF ENYIELKADP IVGSLEPGIY
   781  AGYFDWKDCL PPTGVRNYLK EALVNIIAVH AEVFTISKEL VPRVLSKVIE AVSEELSRLM
   841  QCVSSFSKNG ALQARLEICA LRDTVAVYLT PESKSSFKQA LEALPQLSSG ADKKLLEELL
   901  NKFKSSMHLQ LTCFQAASST MMKT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against EXOC2 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): 0.36
Highest tissue expression: 17 nTPM

Expression across tissuesHPA

Tissue

thymus: 17 nTPM
placenta: 17 nTPM
testis: 15 nTPM
thyroid gland: 13 nTPM
tonsil: 13 nTPM
lymph node: 13 nTPM

Single-cell type

lactotrophs: 224 nCPM
gonadotrophs: 149 nCPM
choroid plexus epithelial cells: 143 nCPM
microglia: 130 nCPM
podocytes: 117 nCPM
somatotrophs: 117 nCPM

Immune cell

T-reg: 21 nTPM
MAIT T-cell: 21 nTPM
memory CD8 T-cell: 18 nTPM
non-classical monocyte: 18 nTPM
memory CD4 T-cell: 17 nTPM
gdT-cell: 17 nTPM

Brain region

white matter: 31 nTPM
pons: 29 nTPM
midbrain: 27 nTPM
medulla oblongata: 27 nTPM
hypothalamus: 27 nTPM
choroid plexus: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about EXOC2.

Disease | AllUniProt

Conditions EXOC2 is implicated in, by any mechanism.

Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) MIM:619306

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 168 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia

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): 0.59
gnomAD pLI: 0
gnomAD missense Z: 1.7
DepMap mean gene effect: -0.44
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

IPT domain
Immunoglobulin-like fold
Immunoglobulin E-set
IPT/TIG domain
Exocyst complex component EXOC2/Sec5
Exocyst complex component EXOC2/Sec5, N-terminal domain
Exocyst complex component Sec5

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of EXOC2 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 EXOC2 as an antibody target. Whether an autoantibody or antibody against EXOC2 could matter depends on whether native EXOC2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

EXOC2 is annotated at the cell surface, where native EXOC2 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 EXOC2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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