Seroatlas · Human Serome Atlas

ELMO2

Engulfment and cell motility protein 2

Also known as: CED-12, CED12, ELMO-2, ELMO2_HUMAN, FLJ11656, KIAA1834

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

Protein identityUniProt · HPA

UniProt accession: Q96JJ3
Gene: ELMO2
Ensembl: ENSG00000062598
Chromosome: 20
Canonical length: 720 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Cytosol

OverviewNCBI Gene

The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

720 residues, UniProt reviewed canonical sequence.

>Q96JJ3|ELMO2
     1  MPPPSDIVKV AIEWPGANAQ LLEIDQKRPL ASIIKEVCDG WSLPNPEYYT LRYADGPQLY
    61  ITEQTRSDIK NGTILQLAIS PSRAARQLME RTQSSNMETR LDAMKELAKL SADVTFATEF
   121  INMDGIIVLT RLVESGTKLL SHYSEMLAFT LTAFLELMDH GIVSWDMVSI TFIKQIAGYV
   181  SQPMVDVSIL QRSLAILESM VLNSQSLYQK IAEEITVGQL ISHLQVSNQE IQTYAIALIN
   241  ALFLKAPEDK RQDMANAFAQ KHLRSIILNH VIRGNRPIKT EMAHQLYVLQ VLTFNLLEER
   301  MMTKMDPNDQ AQRDIIFELR RIAFDAESDP SNAPGSGTEK RKAMYTKDYK MLGFTNHINP
   361  AMDFTQTPPG MLALDNMLYL AKVHQDTYIR IVLENSSRED KHECPFGRSA IELTKMLCEI
   421  LQVGELPNEG RNDYHPMFFT HDRAFEELFG ICIQLLNKTW KEMRATAEDF NKVMQVVREQ
   481  ITRALPSKPN SLDQFKSKLR SLSYSEILRL RQSERMSQDD FQSPPIVELR EKIQPEILEL
   541  IKQQRLNRLC EGSSFRKIGN RRRQERFWYC RLALNHKVLH YGDLDDNPQG EVTFESLQEK
   601  IPVADIKAIV TGKDCPHMKE KSALKQNKEV LELAFSILYD PDETLNFIAP NKYEYCIWID
   661  GLSALLGKDM SSELTKSDLD TLLSMEMKLR LLDLENIQIP EAPPPIPKEP SSYDFVYHYG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ELMO2 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: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.27
Highest tissue expression: 76 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 76 nTPM
basal ganglia: 51 nTPM
hippocampal formation: 48 nTPM
cerebral cortex: 46 nTPM
spinal cord: 42 nTPM
amygdala: 41 nTPM

Single-cell type

esophageal apical cells: 100 nCPM
neutrophils: 85 nCPM
neutrophil progenitors: 66 nCPM
astrocytes: 48 nCPM
retinal horizontal cells: 44 nCPM
oligodendrocytes: 42 nCPM

Immune cell

basophil: 122 nTPM
non-classical monocyte: 74 nTPM
NK-cell: 58 nTPM
MAIT T-cell: 52 nTPM
intermediate monocyte: 48 nTPM
total PBMC: 44 nTPM

Brain region

hippocampal formation: 70 nTPM
cerebral cortex: 56 nTPM
white matter: 56 nTPM
thalamus: 56 nTPM
cerebellum: 52 nTPM
basal ganglia: 51 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ELMO2.

Disease | AllUniProt

Conditions ELMO2 is implicated in, by any mechanism.

Vascular malformation, primary intraosseous (VMPI) MIM:606893

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 118 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Primary intraosseous venous malformation

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): 0.56
gnomAD pLI: 0
gnomAD missense Z: 3.27
DepMap mean gene effect: -0.16
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% 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

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of ELMO2 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 ELMO2 as an antibody target. Whether an autoantibody or antibody against ELMO2 could matter depends on whether native ELMO2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ELMO2 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 ELMO2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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