O95677 (EYA4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Eyes absent homolog 4
EC=3.1.3.48

Gene names

Name:

EYA4

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	639 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Tyrosine phosphatase that specifically dephosphorylates 'Tyr-142' of histone H2AX (H2AXY142ph). 'Tyr-142' phosphorylation of histone H2AX plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Promotes efficient DNA repair by dephosphorylating H2AX, promoting the recruitment of DNA repair complexes containing MDC1. Its function as histone phosphatase probably explains its role in transcription regulation during organogenesis. May be involved in development of the eye By similarity.
Catalytic activity	Protein tyrosine phosphate + H2O = protein tyrosine + phosphate.
Cofactor	Binds 1 Mg2+ ion per subunit By similarity.
Subcellular location	Cytoplasm By similarity. Nucleus By similarity.
Tissue specificity	Highly expressed in heart and skeletal muscle. Ref.6
Involvement in disease	Deafness, autosomal dominant, 10 (DFNA10) [MIM:601316]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5 Cardiomyopathy, dilated 1J (CMD1J) [MIM:605362]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. Cardiomyopathy dilated type 1J is characterized by the association of sensorineural hearing loss and dilated cardiomyopathy in the absence of other anomalies. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6
Sequence similarities	Belongs to the HAD-like hydrolase superfamily. EYA family.

Ontologies

Keywords
Biological process	DNA damage DNA repair Transcription Transcription regulation
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cardiomyopathy Deafness Non-syndromic deafness
Ligand	Magnesium Metal-binding
Molecular function	Activator Chromatin regulator Developmental protein Hydrolase Protein phosphatase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA repair Inferred from electronic annotation. Source: UniProtKB-KW anatomical structure morphogenesis Traceable author statement Ref.1. Source: ProtInc chromatin modification Inferred from electronic annotation. Source: UniProtKB-KW middle ear morphogenesis Inferred from electronic annotation. Source: Compara peptidyl-tyrosine dephosphorylation Inferred from electronic annotation. Source: GOC regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW sensory perception of sound Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW visual perception Traceable author statement Ref.1. Source: ProtInc
Cellular_component	cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular_function	metal ion binding Inferred from electronic annotation. Source: UniProtKB-KW protein tyrosine phosphatase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O95677-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: O95677-2)

The sequence of this isoform differs from the canonical sequence as follows:
     70-92: Missing.
     93-93: M → V

Isoform 3 (identifier: O95677-3)

The sequence of this isoform differs from the canonical sequence as follows:
     447-452: STYSFA → RCKRRG
     453-639: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Isoform 4 (identifier: O95677-4)

The sequence of this isoform differs from the canonical sequence as follows:
     589-613: MQRFGRKVVYVVIGDGVEEEQAAKK → VSRFGTNITYVVIGDGRDEEHAANQ

Isoform 5 (identifier: O95677-5)

The sequence of this isoform differs from the canonical sequence as follows:
     70-123: Missing.
     589-613: MQRFGRKVVYVVIGDGVEEEQAAKK → VSRFGTNITYVVIGDGRDEEHAANQ

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 639	639	Eyes absent homolog 4		PRO_0000218651
Sites
	Active site	375	1	Nucleophile By similarity
	Active site	377	1	Proton donor By similarity
	Metal binding	375	1	Magnesium By similarity
	Metal binding	377	1	Magnesium By similarity
	Metal binding	603	1	Magnesium By similarity
Amino acid modifications
	Modified residue	361	1	Phosphoserine Ref.7
Natural variations
	Alternative sequence	70 – 123	54	Missing in isoform 5.		VSP_042160
	Alternative sequence	70 – 92	23	Missing in isoform 2.		VSP_001495
	Alternative sequence	93	1	M → V in isoform 2.		VSP_001496
	Alternative sequence	447 – 452	6	STYSFA → RCKRRG in isoform 3.		VSP_001497
	Alternative sequence	453 – 639	187	Missing in isoform 3.		VSP_001498
	Alternative sequence	589 – 613	25	MQRFG…QAAKK → VSRFGTNITYVVIGDGRDEE HAANQ in isoform 4 and isoform 5.		VSP_001499
	Natural variant	152	1	L → R in a colorectal cancer sample; somatic mutation. Ref.8		VAR_036248
	Natural variant	277	1	G → S. Ref.1 Corresponds to variant rs9493627 [ dbSNP | Ensembl ].		VAR_022932
	Natural variant	301	1	D → N in a colorectal cancer sample; somatic mutation. Ref.8		VAR_036249
Experimental info
	Sequence conflict	177	1	V → A in BAH13593. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified July 19, 2005. Version 2. Checksum: CC59A8FB1527A0EC	FASTA	639	69,505
	10 20 30 40 50 60 MEDSQDLNEQ SVKKTCTESD VSQSQNSRSM EMQDLASPHT LVGGGDTPGS SKLEKSNLSS 70 80 90 100 110 120 TSVTTNGTGG ENMTVLNTAD WLLSCNTPSS ATMSLLAVKT EPLNSSETTA TTGDGALDTF 130 140 150 160 170 180 TGSVITSSGY SPRSAHQYSP QLYPSKPYPH ILSTPAAQTM SAYAGQTQYS GMQQPAVYTA 190 200 210 220 230 240 YSQTGQPYSL PTYDLGVMLP AIKTESGLSQ TQSPLQSGCL SYSPGFSTPQ PGQTPYSYQM 250 260 270 280 290 300 PGSSFAPSST IYANNSVSNS TNFSGSQQDY PSYTAFGQNQ YAQYYSASTY GAYMTSNNTA 310 320 330 340 350 360 DGTPSSTSTY QLQESLPGLT NQPGEFDTMQ SPSTPIKDLD ERTCRSSGSK SRGRGRKNNP 370 380 390 400 410 420 SPPPDSDLER VFVWDLDETI IVFHSLLTGS YAQKYGKDPP MAVTLGLRME EMIFNLADTH 430 440 450 460 470 480 LFFNDLEECD QVHIDDVSSD DNGQDLSTYS FATDGFHAAA SSANLCLPTG VRGGVDWMRK 490 500 510 520 530 540 LAFRYRRVKE LYNTYKNNVG GLLGPAKRDA WLQLRAEIEG LTDSWLTNAL KSLSIISTRS 550 560 570 580 590 600 NCINVLVTTT QLIPALAKVL LYSLGGAFPI ENIYSATKIG KESCFERIMQ RFGRKVVYVV 610 620 630 IGDGVEEEQA AKKHNMPFWR ISSHSDLLAL HQALELEYL
	Isoform 2 [UniParc]. Checksum: 61BC97D2981AC16E	FASTA	616	67,065
	10 20 30 40 50 60 MEDSQDLNEQ SVKKTCTESD VSQSQNSRSM EMQDLASPHT LVGGGDTPGS SKLEKSNLSS 70 80 90 100 110 120 TSVTTNGTGV SLLAVKTEPL NSSETTATTG DGALDTFTGS VITSSGYSPR SAHQYSPQLY 130 140 150 160 170 180 PSKPYPHILS TPAAQTMSAY AGQTQYSGMQ QPAVYTAYSQ TGQPYSLPTY DLGVMLPAIK 190 200 210 220 230 240 TESGLSQTQS PLQSGCLSYS PGFSTPQPGQ TPYSYQMPGS SFAPSSTIYA NNSVSNSTNF 250 260 270 280 290 300 SGSQQDYPSY TAFGQNQYAQ YYSASTYGAY MTSNNTADGT PSSTSTYQLQ ESLPGLTNQP 310 320 330 340 350 360 GEFDTMQSPS TPIKDLDERT CRSSGSKSRG RGRKNNPSPP PDSDLERVFV WDLDETIIVF 370 380 390 400 410 420 HSLLTGSYAQ KYGKDPPMAV TLGLRMEEMI FNLADTHLFF NDLEECDQVH IDDVSSDDNG 430 440 450 460 470 480 QDLSTYSFAT DGFHAAASSA NLCLPTGVRG GVDWMRKLAF RYRRVKELYN TYKNNVGGLL 490 500 510 520 530 540 GPAKRDAWLQ LRAEIEGLTD SWLTNALKSL SIISTRSNCI NVLVTTTQLI PALAKVLLYS 550 560 570 580 590 600 LGGAFPIENI YSATKIGKES CFERIMQRFG RKVVYVVIGD GVEEEQAAKK HNMPFWRISS 610 HSDLLALHQA LELEYL
	Isoform 3 [UniParc]. Checksum: CE4391D2A264B937	FASTA	452	48,735
	10 20 30 40 50 60 MEDSQDLNEQ SVKKTCTESD VSQSQNSRSM EMQDLASPHT LVGGGDTPGS SKLEKSNLSS 70 80 90 100 110 120 TSVTTNGTGG ENMTVLNTAD WLLSCNTPSS ATMSLLAVKT EPLNSSETTA TTGDGALDTF 130 140 150 160 170 180 TGSVITSSGY SPRSAHQYSP QLYPSKPYPH ILSTPAAQTM SAYAGQTQYS GMQQPAVYTA 190 200 210 220 230 240 YSQTGQPYSL PTYDLGVMLP AIKTESGLSQ TQSPLQSGCL SYSPGFSTPQ PGQTPYSYQM 250 260 270 280 290 300 PGSSFAPSST IYANNSVSNS TNFSGSQQDY PSYTAFGQNQ YAQYYSASTY GAYMTSNNTA 310 320 330 340 350 360 DGTPSSTSTY QLQESLPGLT NQPGEFDTMQ SPSTPIKDLD ERTCRSSGSK SRGRGRKNNP 370 380 390 400 410 420 SPPPDSDLER VFVWDLDETI IVFHSLLTGS YAQKYGKDPP MAVTLGLRME EMIFNLADTH 430 440 450 LFFNDLEECD QVHIDDVSSD DNGQDLRCKR RG
	Isoform 4 [UniParc]. Checksum: 514B81F45BD98DA2	FASTA	639	69,417
	10 20 30 40 50 60 MEDSQDLNEQ SVKKTCTESD VSQSQNSRSM EMQDLASPHT LVGGGDTPGS SKLEKSNLSS 70 80 90 100 110 120 TSVTTNGTGG ENMTVLNTAD WLLSCNTPSS ATMSLLAVKT EPLNSSETTA TTGDGALDTF 130 140 150 160 170 180 TGSVITSSGY SPRSAHQYSP QLYPSKPYPH ILSTPAAQTM SAYAGQTQYS GMQQPAVYTA 190 200 210 220 230 240 YSQTGQPYSL PTYDLGVMLP AIKTESGLSQ TQSPLQSGCL SYSPGFSTPQ PGQTPYSYQM 250 260 270 280 290 300 PGSSFAPSST IYANNSVSNS TNFSGSQQDY PSYTAFGQNQ YAQYYSASTY GAYMTSNNTA 310 320 330 340 350 360 DGTPSSTSTY QLQESLPGLT NQPGEFDTMQ SPSTPIKDLD ERTCRSSGSK SRGRGRKNNP 370 380 390 400 410 420 SPPPDSDLER VFVWDLDETI IVFHSLLTGS YAQKYGKDPP MAVTLGLRME EMIFNLADTH 430 440 450 460 470 480 LFFNDLEECD QVHIDDVSSD DNGQDLSTYS FATDGFHAAA SSANLCLPTG VRGGVDWMRK 490 500 510 520 530 540 LAFRYRRVKE LYNTYKNNVG GLLGPAKRDA WLQLRAEIEG LTDSWLTNAL KSLSIISTRS 550 560 570 580 590 600 NCINVLVTTT QLIPALAKVL LYSLGGAFPI ENIYSATKIG KESCFERIVS RFGTNITYVV 610 620 630 IGDGRDEEHA ANQHNMPFWR ISSHSDLLAL HQALELEYL
	Isoform 5 [UniParc]. Checksum: F11418BAC8175189	FASTA	585	63,911
	10 20 30 40 50 60 MEDSQDLNEQ SVKKTCTESD VSQSQNSRSM EMQDLASPHT LVGGGDTPGS SKLEKSNLSS 70 80 90 100 110 120 TSVTTNGTGV ITSSGYSPRS AHQYSPQLYP SKPYPHILST PAAQTMSAYA GQTQYSGMQQ 130 140 150 160 170 180 PAVYTAYSQT GQPYSLPTYD LGVMLPAIKT ESGLSQTQSP LQSGCLSYSP GFSTPQPGQT 190 200 210 220 230 240 PYSYQMPGSS FAPSSTIYAN NSVSNSTNFS GSQQDYPSYT AFGQNQYAQY YSASTYGAYM 250 260 270 280 290 300 TSNNTADGTP SSTSTYQLQE SLPGLTNQPG EFDTMQSPST PIKDLDERTC RSSGSKSRGR 310 320 330 340 350 360 GRKNNPSPPP DSDLERVFVW DLDETIIVFH SLLTGSYAQK YGKDPPMAVT LGLRMEEMIF 370 380 390 400 410 420 NLADTHLFFN DLEECDQVHI DDVSSDDNGQ DLSTYSFATD GFHAAASSAN LCLPTGVRGG 430 440 450 460 470 480 VDWMRKLAFR YRRVKELYNT YKNNVGGLLG PAKRDAWLQL RAEIEGLTDS WLTNALKSLS 490 500 510 520 530 540 IISTRSNCIN VLVTTTQLIP ALAKVLLYSL GGAFPIENIY SATKIGKESC FERIVSRFGT 550 560 570 580 NITYVVIGDG RDEEHAANQH NMPFWRISSH SDLLALHQAL ELEYL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"EYA4, a novel vertebrate gene related to Drosophila eyes absent." 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. Hum. Mol. Genet. 8:11-23(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANT SER-277, ALTERNATIVE SPLICING. Tissue: Lens epithelium and Skeletal muscle.
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5). Tissue: Testis.
[3]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[5]	"Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus." Wayne S., Robertson N.G., DeClau F., Chen N., Verhoeven K., Prasad S., Tranebjaerg L., Morton C.C., Ryan A.F., Van Camp G., Smith R.J.H. Hum. Mol. Genet. 10:195-200(2001) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN DFNA10.
[6]	"Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss." Schoenberger J., Wang L., Shin J.T., Kim S.D., Depreux F.F.S., Zhu H., Zon L., Pizard A., Kim J.B., Macrae C.A., Mungall A.J., Seidman J.G., Seidman C.E. Nat. Genet. 37:418-422(2005) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN CMD1J, TISSUE SPECIFICITY.
[7]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-361, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] ARG-152 AND ASN-301.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	Y17114 mRNA. Translation: CAA76636.1. Y17847 Genomic DNA. Translation: CAA76891.1. AJ007993 mRNA. Translation: CAA07816.1. AJ007994 mRNA. Translation: CAA07817.1. AK301950 mRNA. Translation: BAH13593.1. AL121959, AL024497, AL450270 Genomic DNA. Translation: CAB92069.2. AL024497, AL121959, AL450270 Genomic DNA. Translation: CAI42524.1. AL450270, AL024497, AL121959 Genomic DNA. Translation: CAI41272.1. BC041063 mRNA. Translation: AAH41063.1.
IPI	IPI00219973. IPI00300776. IPI00377184. IPI00908921. IPI00980204.
RefSeq	NP_004091.3. NM_004100.4. NP_742101.2. NM_172103.3. NP_742103.1. NM_172105.3.
UniGene	Hs.596680.
3D structure databases
ProteinModelPortal	O95677.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000347294.
PTM databases
PhosphoSite	O95677.
Proteomic databases
PaxDb	O95677.
PRIDE	O95677.
Protocols and materials databases
DNASU	2070.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000355167; ENSP00000347294; ENSG00000112319. ENST00000355286; ENSP00000347434; ENSG00000112319. ENST00000367895; ENSP00000356870; ENSG00000112319. ENST00000431403; ENSP00000404558; ENSG00000112319. ENST00000452339; ENSP00000395916; ENSG00000112319.
GeneID	2070.
KEGG	hsa:2070.
UCSC	uc003qec.4. human. uc003qed.4. human. uc003qee.4. human.
Organism-specific databases
CTD	2070.
GeneCards	GC06P133563.
HGNC	HGNC:3522. EYA4.
HPA	HPA004805. HPA038771. HPA038772.
MIM	601316. phenotype. 603550. gene. 605362. phenotype.
neXtProt	NX_O95677.
Orphanet	90635. Autosomal dominant nonsyndromic sensorineural deafness type DFNA. 217622. Sensorineural deafness with dilated cardiomyopathy.
PharmGKB	PA27934.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG297494.
HOGENOM	HOG000293149.
HOVERGEN	HBG002447.
OrthoDB	EOG4GQQ4J.
Gene expression databases
ArrayExpress	O95677.
Bgee	O95677.
CleanEx	HS_EYA4.
Genevestigator	O95677.
GermOnline	ENSG00000112319. Homo sapiens.
Family and domain databases
InterPro	IPR006545. EYA. [Graphical view]
TIGRFAMs	TIGR01658. EYA-cons_domain. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	2070.
NextBio	8417.
SOURCE	Search...

Entry information

Entry name

EYA4_HUMAN

Accession

Primary (citable) accession number: O95677
Secondary accession number(s): B7Z7F7 , O95464, O95679, Q8IW39, Q9NTR7

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 30, 2000
Last sequence update:	July 19, 2005
Last modified:	May 1, 2013
This is version 119 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.