ETV3 - ETS variant transcription factor 3 Gene

Also Known as PE1; METS; PE-1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2117

About ETV3

Cytogenetic location: 1q23.1 Genomic coordinates (GRCh38): 1:157,121,191-157,138,395 (from NCBI)

This gene has 3 transcripts (splice variants), 125 orthologues and 28 paralogues. Ubiquitous expression in skin (RPKM 12.1), gall bladder (RPKM 6.8) and 25 other tissues.

Summary

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 negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ETV3 Products (2)

mRNA Protein Name
NM_001145312.3 NP_001138784.1 ETS translocation variant 3 isoform 1
NM_005240.3 NP_005231.1 ETS translocation variant 3 isoform 2
Molecular Function GO Annotation Evidence References Source
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ETV3 Protein Structure

Ets

Ets: Ets-domain (34 - 117)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 512 a.a.
Protein Preferred Names Protein Names

ETS translocation variant 3

  • ETS domain transcriptional repressor PE1

Related Diseases

Diseases Alias
Hypotrichosis 1
  • HYPT1

  • Hhs

  • Hts

  • Hypotrichosis Simplex

  • Hypotrichosis Simplex, Generalized, Hereditary

  • Hereditary Generalized Hypotrichosis Simplex

  • Generalized Hypothricosis Simplex

  • Hypotrichosis Simplex Hereditary

  • Hypotrichosis, Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus ETV3 VGNC VGNC:50176
Canis familiaris ETV3 VGNC VGNC:53343
Rattus norvegicus ETV3 RGD RGD:1311577
Macaca mulatta ETV3 VGNC VGNC:99918
Mus musculus ETV3 MGD MGI:1350926
Others ETV3 NCBI