Eyes absent homolog 4

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Eyes absent homolog 4 - Wikipedia

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EYA4

Identifiers

Aliases

EYA4, CMD1J, DFNA10, EYA transcriptional coactivator and phosphatase 4

External IDs

OMIM: 603550; MGI: 1337104; HomoloGene: 3025; GeneCards: EYA4; OMA:EYA4 - orthologs

Gene location (Human)

Chr.	Chromosome 6 (human)^[1]

Band	6q23.2	Start	133,240,514 bp^[1]
Band	6q23.2	End	133,532,128 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 10 (mouse)^[2]

Band	10 A3\|10 10.44 cM	Start	23,102,963 bp^[2]
Band	10 A3\|10 10.44 cM	End	23,350,786 bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

biceps brachii

Skeletal muscle tissue of biceps brachii

seminal vesicula

gastrocnemius muscle

Achilles tendon

Skeletal muscle tissue of rectus abdominis

mucosa of paranasal sinus

muscle of thigh

bronchial epithelial cell

right ventricle

Top expressed in

vestibular sensory epithelium

vestibular membrane of cochlear duct

olfactory epithelium

triceps brachii muscle

spermatid

sternocleidomastoid muscle

body of femur

temporal muscle

ankle

muscle of thigh

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	protein binding phosphoprotein phosphatase activity hydrolase activity metal ion binding protein tyrosine phosphatase activity
Cellular component	cytoplasm nucleus
Biological process	multicellular organism development anatomical structure morphogenesis peptidyl-tyrosine dephosphorylation regulation of transcription, DNA-templated hearing DNA repair transcription, DNA-templated visual perception cellular response to DNA damage stimulus positive regulation of DNA repair negative regulation of extrinsic apoptotic signaling pathway in absence of ligand cell differentiation chromatin organization anatomical structure development
Sources:Amigo / QuickGO

Orthologs

Species

Human

Mouse

Entrez


2070


14051

Ensembl


ENSG00000112319


ENSMUSG00000010461

UniProt


O95677


Q9Z191

RefSeq (mRNA)

NM_001301012 NM_001301013 NM_004100 NM_172103 NM_172104
NM_172105 NM_001370458 NM_001370459


NM_010167 NM_001347372

RefSeq (protein)

NP_001287941 NP_001287942 NP_004091 NP_742101 NP_742103
NP_001357387 NP_001357388


NP_001334301 NP_034297

Location (UCSC)

Chr 6: 133.24 – 133.53 Mb

Chr 10: 23.1 – 23.35 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.^[5]^[6]^[7]

This gene encodes a member of the eyes absent (EYA) subfamily of proteins. The encoded protein may act as a transcriptional activator and be important for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant nonsyndromic sensorineural 10 locus. Three transcript variants encoding distinct isoforms have been identified for this gene.^[7]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000112319 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000010461 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Borsani G, DeGrandi A, Ballabio A, Bulfone A, Bernard L, Banfi S, Gattuso C, Mariani M, Dixon M, Donnai D, Metcalfe K, Winter R, Robertson M, Axton R, Brown A, van Heyningen V, Hanson I (Mar 1999). "EYA4, a novel vertebrate gene related to Drosophila eyes absent". Hum Mol Genet. 8 (1): 11–23. doi:10.1093/hmg/8.1.11. PMID 9887327.
^ Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjarg L, Morton CC, Ryan AF, Van Camp G, Smith RJ (Feb 2001). "Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus". Hum Mol Genet. 10 (3): 195–200. doi:10.1093/hmg/10.3.195. PMID 11159937.
^ ^a ^b "Entrez Gene: EYA4 eyes absent homolog 4 (Drosophila)".

O'Neill ME, Marietta J, Nishimura D, et al. (1996). "A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6". Hum. Mol. Genet. 5 (6): 853–856. doi:10.1093/hmg/5.6.853. PMID 8776603.
Schönberger J, Levy H, Grünig E, et al. (2000). "Dilated cardiomyopathy and sensorineural hearing loss: a heritable syndrome that maps to 6q23-24". Circulation. 101 (15): 1812–1818. doi:10.1161/01.cir.101.15.1812. PMID 10769282.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Pfister M, Tóth T, Thiele H, et al. (2004). "A 4-bp insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10". Mol. Med. 8 (10): 607–611. doi:10.1007/BF03402171. PMC 2039947. PMID 12477971.
Mungall AJ, Palmer SA, Sims SK, et al. (2003). "The DNA sequence and analysis of human chromosome 6". Nature. 425 (6960): 805–811. Bibcode:2003Natur.425..805M. doi:10.1038/nature02055. PMID 14574404.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–2127. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Schönberger J, Wang L, Shin JT, et al. (2005). "Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss". Nat. Genet. 37 (4): 418–422. doi:10.1038/ng1527. PMID 15735644. S2CID 20760254.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Beausoleil SA, Villén J, Gerber SA, et al. (2006). "A probability-based approach for high-throughput protein phosphorylation analysis and site localization". Nat. Biotechnol. 24 (10): 1285–1292. doi:10.1038/nbt1240. PMID 16964243. S2CID 14294292.
Makishima T, Madeo AC, Brewer CC, et al. (2007). "Nonsyndromic hearing loss DFNA10 and a novel mutation of EYA4: evidence for correlation of normal cardiac phenotype with truncating mutations of the Eya domain". Am. J. Med. Genet. A. 143 (14): 1592–1598. doi:10.1002/ajmg.a.31793. PMID 17567890. S2CID 20167944.
Hildebrand MS, Coman D, Yang T, et al. (2007). "A novel splice site mutation in EYA4 causes DFNA10 hearing loss". Am. J. Med. Genet. A. 143 (14): 1599–1604. doi:10.1002/ajmg.a.31860. PMID 17568404. S2CID 40602803.

Esterase: protein tyrosine phosphatases (EC 3.1.3.48)

Class I

Classical PTPs

Receptor type PTPs	PTPRA PTPRB PTPRC PTPRD PTPRE PTPRF PTPRG PTPRH PTPRJ PTPRK PTPRM PTPRN PTPRN2 PTPRO PTPRQ PTPRR PTPRS PTPRT PTPRU PTPRZ1 PTPRZ2
Non receptor type PTPs	PTPN1 PTPN2 PTPN3 PTPN4 PTPN5 PTPN6 PTPN7 PTPN9 PTPN11 PTPN12 PTPN13 PTPN14 PTPN18 PTPN20 PTPN21 PTPN22 PTPN23

VH1-like or
dual specific
phosphatases
(DSPs)

MAPK phosphatases (MKPs)	DUSP1 DUSP2 DUSP4 DUSP5 DUSP6 DUSP7 DUSP8 DUSP9 DUSP10 DUSP16 MK-STYX
Slingshots	SSH1 SSH2 SSH3
PRLs	PTP4A1 PTP4A2 PTP4A3
CDC14s	CDC14A CDC14B CDKN3 PTP9Q22
Atypical DSPs	DUSP3 DUSP11 DUSP12 DUSP13A DUSP13B DUSP14 DUSP15 DUSP18 DUSP19 DUSP21 DUSP22 DUSP23 DUSP24 DUSP25 DUSP26 DUSP27 EMP2A RNGTT STYX
Phosphatase and tensin homologs (PTENs)	PTEN TPIP TPTE TNS TENC1
Myotubularins	MTM1 MTMR2 MTMR3 MTMR4 MTMR5 MTMR6 MTMR7 MTMR8 MTMR9 MTMR10 MTMR11 MTMR12 MTMR13 MTMR14 MTMR15

Class II

ACP1

Class III

Cdc25
- CDC25A
- CDC25B
- CDC25C

Class IV

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References

Further reading