1. Gene
  2. ETV5 - ETS variant transcription factor 5 Gene

ETV5 - ETS variant transcription factor 5 Gene

Homo sapiens

Also known as ERM

Gene ID: 2119 | Gene type: protein coding

About ETV5

Cytogenetic location: 3q27.2 Genomic coordinates (GRCh38): 3:186,046,314-186,109,089 (from NCBI)

This gene has 14 transcripts (splice variants), 131 orthologues, 28 paralogues and is associated with 62 phenotypes. Broad expression in brain (RPKM 25.8), adrenal (RPKM 22.0) and 23 other tissues.

Summary

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Involved in cellular response to oxidative stress; negative regulation of transcription by RNA polymerase II; and positive regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

ETV5 Products(1)

mRNA Protein Name
NM_004454.3 NP_004445.1 ETS translocation variant 5

ETV5 Protein Structure

ETS_PEA3_N

ETS_PEA3_N: PEA3 subfamily ETS-domain transcription factor N terminal domain (1 - 366)

Ets

Ets: Ets-domain (368 - 449)

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  • 510 a.a.
Protein Preferred Names Protein Names

ETS translocation variant 5

ets-related molecule

Related Diseases

Diseases Alias
Acoustic Neuroma

Neurofibromatosis Type 2

Vestibular Schwannoma

Acoustic Neurinoma

Bilateral Acoustic Neurofibromatosis

Nf2

Acoustic Neurilemoma

Cerebellopontine Angle Tumor

Neurofibromatosis Central Type

Neurofibromatosis Type Ii

Vestibular Neurilemmoma

Acoustic Tumor

Neurinoma Of The Acoustic Nerve

Acoustic Neurinoma Bilateral

Acoustic Schwannomas Bilateral

Banf

Central Neurofibromatosis

Familial Acoustic Neuromas

Neurofibromatosis 2

Neurofibromatosis Type 2 Merlin

Schwannoma, Acoustic, Bilateral

Neuroma Acoustic

Neuroma, Acoustic

Familial Acoustic Neuroma

Familial Vestibular Schwannoma

Neurofibromatosis, Central Type

Nf2 - [Neurofibromatosis Type 2]

Charcot-Marie-Tooth Disease, Axonal, Type 2dd

CMT2DD

Charcot-Marie-Tooth Neuropathy, Type 2dd

Charcot-Marie-Tooth Disease Type 2dd

Atp1a1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2

Atp1a1-Related Cmt2

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2dd

Charcot-Marie-Tooth Disease 2dd

Lacrimoauriculodentodigital Syndrome

Ladd Syndrome

Levy-Hollister Syndrome

Lacrimo-Auriculo-Dento-Digital Syndrome

LADD

Lacrimoauriculodento-Digital Syndrome

Levy Hollister Syndrome

Lard Syndrome

Lacrimoauriculoradiodental Syndrome

LADDS

Congenital Duodenal Obstruction Due To Malrotation Of Intestine

Renal Hypodysplasia/Aplasia 1

Renal Agenesis

Renal Adysplasia

Renal Aplasia

RHDA1

Hereditary Renal Aplasia

Hra

Hereditary Urogenital Adysplasia

Hypodysplasia/Aplasia, Renal, Type 1

Congenital Absence Of Kidneys Syndrome

Congenital Absence Of Kidney

Aplastic Kidney

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 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
Canis familiaris ETV5 VGNC VGNC:40499
Rattus norvegicus ETV5 RGD RGD:1309590
Mus musculus ETV5 MGD MGI:1096867
Felis catus ETV5 VGNC VGNC:61985
Macaca mulatta ETV5 VGNC VGNC:72443
Bos taurus ETV5 VGNC VGNC:28631