• Gene id: 2119

Gene Summary

• Gene Symbol: ETV5   Gene   UCSC   Ensembl
• Aliases: ERM
• Gene name: ETS variant 5
• Alternate names: ETS translocation variant 5, ets-related molecule, ets-related protein ERM,
• Gene location: 3q27.2 (186109111: 186046316)     Exons: 13     NC_000003.12
• OMIM: 601600

Protein Summary

• Protein general information: P41161  
  • Name: ETS translocation variant 5 (Ets related protein ERM)
  • Length: 510  
  • Mass: 57,838
• Sequence:

  MDGFYDQQVPFMVPGKSRSEECRGRPVIDRKRKFLDTDLAHDSEELFQDLSQLQEAWLAEAQVPDDEQFVPDFQS
  DNLVLHAPPPTKIKRELHSPSSELSSCSHEQALGANYGEKCLYNYCAYDRKPPSGFKPLTPPTTPLSPTHQNPLF
  PPPQATLPTSGHAPAAGPVQGVGPAPAPHSLPEPGPQQQTFAVPRPPHQPLQMPKMMPENQYPSEQRFQRQLSEP
  CHPFPPQPGVPGDNRPSYHRQMSEPIVPAAPPPPQGFKQEYHDPLYEHGVPGMPGPPAHGFQSPMGIKQEPRDYC
  VDSEVPNCQSSYMRGGYFSSSHEGFSYEKDPRLYFDDTCVVPERLEGKVKQEPTMYREGPPYQRRGSLQLWQFLV
  TLLDDPANAHFIAWTGRGMEFKLIEPEEVARRWGIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKFVCD
  PDALFSMAFPDNQRPFLKAESECHLSEEDTLPLTHFEDSPAYLLDMDRCSSLPYAEGFAY

• Structural information:
  • Interpro: IPR000418  IPR006715  IPR036388  IPR036390  
  • Prosite: PS00345 PS00346 PS50061
  • PDB: 4UNO 5ILV
  • PDBsum: 4UNO 5ILV
  • STRING: ENSP00000306894
• Other Databases: GeneCards:  ETV5  Malacards:  ETV5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IMP	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007274	neuromuscular synaptic transmission	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0034599	cellular response to oxidative stress	IDA	biological process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0048133	male germ-line stem cell asymmetric division	IEA	biological process
GO:0050807	regulation of synapse organization	IEA	biological process
GO:0060252	positive regulation of glial cell proliferation	IEA	biological process
GO:0060762	regulation of branching involved in mammary gland duct morphogenesis	IEA	biological process
GO:0071340	skeletal muscle acetylcholine-gated channel clustering	IEA	biological process
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IMP	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0007274	neuromuscular synaptic transmission	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0034599	cellular response to oxidative stress	IDA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045666	positive regulation of neuron differentiation	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process
GO:0048133	male germ-line stem cell asymmetric division	IEA	biological process
GO:0050807	regulation of synapse organization	IEA	biological process
GO:0060252	positive regulation of glial cell proliferation	IEA	biological process
GO:0060762	regulation of branching involved in mammary gland duct morphogenesis	IEA	biological process
GO:0071340	skeletal muscle acetylcholine-gated channel clustering	IEA	biological process
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IMP	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IMP	molecular function
GO:0003677	DNA binding	TAS	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IDA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	TAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0030154	cell differentiation	IBA	biological process
GO:0034599	cellular response to oxidative stress	IDA	biological process
GO:0044212	transcription regulatory region DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer
hsa05215	Prostate cancer

Diseases

Associated diseases	References
Cancer (prostate)	KEGG: H00024
Cleft defects	GAD: 20634891
Obesity	GAD: 19851340
Diabetes	GAD: 20215397
Anorexia nervosa	GAD: 19746409
Polycystic ovary syndrome (PCOS)	INFBASE: 24498077
Sertoli cell only syndrome (SCOS)	MIK: 22771031
Non obstructive azoospermia	MIK: 22771031
Asthma	GAD: 20816195
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Has critical effects on neonatal spermatogonial proliferation	MIK: 19369650
Male infertility	MIK: 18032421
Male infertility	MIK: 27498191
Nonobstructive azoospermia (NOA), Sertoli cell-only (SCO) syndrome	MIK: 22771031
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
22771031	Nonobstructive azoospermia (NOA), Sertoli cell-only (SCO) syndrome	ETV5 (homozygous +48845 G>T (TT allele))	Austral ian, Am erican	447 (151 Sertoli cell-only (SCO) syndrome, 296 controls)	Male infertility	ETV5
19369650	Has critical effects on neonatal spermatogonial proliferation				Male infertility
18032421	Male infertility				Male infertility
27498191	Male infertility				Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray