Seroatlas · Human Serome Atlas

ETV2

ETS translocation variant 2

Also known as: ER71, ETV2_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O00321
Gene: ETV2
Ensembl: ENSG00000105672
Chromosome: 19
Canonical length: 342 aa
Protein class: Predicted intracellular proteins, Transcription factors

OverviewNCBI Gene

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in cell differentiation and regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including cell surface receptor signaling pathway; positive regulation of endothelial cell differentiation; and positive regulation of macromolecule biosynthetic process. Predicted to be active in nucleus. Implicated in limb ischemia. [provided by Alliance of Genome Resources, Apr 2025]

Canonical amino-acid sequenceUniProt

342 residues, UniProt reviewed canonical sequence.

>O00321|ETV2
     1  MDLWNWDEAS PQEVPPGNKL AGLEGAKLGF CFPDLALQGD TPTATAETCW KGTSSSLASF
    61  PQLDWGSALL HPEVPWGAEP DSQALPWSGD WTDMACTAWD SWSGASQTLG PAPLGPGPIP
   121  AAGSEGAAGQ NCVPVAGEAT SWSRAQAAGS NTSWDCSVGP DGDTYWGSGL GGEPRTDCTI
   181  SWGGPAGPDC TTSWNPGLHA GGTTSLKRYQ SSALTVCSEP SPQSDRASLA RCPKTNHRGP
   241  IQLWQFLLEL LHDGARSSCI RWTGNSREFQ LCDPKEVARL WGERKRKPGM NYEKLSRGLR
   301  YYYRRDIVRK SGGRKYTYRF GGRVPSLAYP DCAGGGRGAE TQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ETV2 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): 0.63
Highest tissue expression: 18 nTPM

Expression across tissuesHPA

Tissue

testis: 18 nTPM
esophagus: 3 nTPM
pancreas: 3 nTPM
skin: 2.7 nTPM
liver: 2.2 nTPM
adrenal gland: 1.8 nTPM

Single-cell type

late spermatids: 830 nCPM
early spermatids: 179 nCPM
esophageal apical cells: 52 nCPM
late primary spermatocytes: 48 nCPM
enterocytes: 26 nCPM
esophageal suprabasal cells: 25 nCPM

Immune cell

plasmacytoid DC: 21 nTPM
memory CD8 T-cell: 3.4 nTPM
non-classical monocyte: 3.4 nTPM
memory CD4 T-cell: 3.2 nTPM
intermediate monocyte: 3 nTPM
gdT-cell: 2.7 nTPM

Brain region

cerebellum: 4 nTPM
pons: 1.4 nTPM
cerebral cortex: 1.2 nTPM
medulla oblongata: 1.2 nTPM
hypothalamus: 1.1 nTPM
midbrain: 0.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ETV2.

Disease | GeneticClinVar

2 pathogenic / likely-pathogenic of 61 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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): 1.42
gnomAD pLI: 0
gnomAD missense Z: 0.47
DepMap mean gene effect: -0.03
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

Molecular functions

Cellular components

nucleus

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ETV2 as an antibody target. Whether an autoantibody or antibody against ETV2 could matter depends on whether native ETV2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ETV2 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 ETV2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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