EYA2 EYA transcriptional coactivator and phosphatase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: EYA2provided by HGNC
Official Full Name: EYA transcriptional coactivator and phosphatase 2provided by HGNC
Primary source: HGNC:HGNC:3520
See related: Ensembl:ENSG00000064655 MIM:601654; AllianceGenome:HGNC:3520
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EAB1
Summary: This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]
Expression: Broad expression in endometrium (RPKM 9.8), prostate (RPKM 9.3) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q13.12

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (46894843..47188844)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (48632937..48926940)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (45523482..45817492)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EYA2 tyrosine phosphatase inhibition reduces MYC and prevents medulloblastoma progression.
Title: EYA2 tyrosine phosphatase inhibition reduces MYC and prevents medulloblastoma progression.
A FBXO7/EYA2-SCF(FBXW7) axis promotes AXL-mediated maintenance of mesenchymal and immune evasion phenotypes of cancer cells.
Title: A FBXO7/EYA2-SCF(FBXW7) axis promotes AXL-mediated maintenance of mesenchymal and immune evasion phenotypes of cancer cells.
Structure-activity relationship studies of allosteric inhibitors of EYA2 tyrosine phosphatase.
Title: Structure-activity relationship studies of allosteric inhibitors of EYA2 tyrosine phosphatase.
EYA2 suppresses the progression of hepatocellular carcinoma via SOCS3-mediated blockade of JAK/STAT signaling.
Title: EYA2 suppresses the progression of hepatocellular carcinoma via SOCS3-mediated blockade of JAK/STAT signaling.
Targeting EYA2 tyrosine phosphatase activity in glioblastoma stem cells induces mitotic catastrophe.
Title: Targeting EYA2 tyrosine phosphatase activity in glioblastoma stem cells induces mitotic catastrophe.
MicroRNA-219 inhibits cell viability and metastasis in papillary thyroid carcinoma by targeting EYA2.
Title: MicroRNA-219 inhibits cell viability and metastasis in papillary thyroid carcinoma by targeting EYA2.
The inhibition of AKT attenuated EYA2-induced Bcl-2 upregulation. In conclusion, our data demonstrated that Eya2 was upregulated in prostate cancers. EYA2 promotes cell proliferation and invasion as well as cancer progression by regulating docetaxel sensitivity and mitochondrial membrane potential, possibly via the AKT/Bcl-2 axis.
Title: Eya2 Is Overexpressed in Human Prostate Cancer and Regulates Docetaxel Sensitivity and Mitochondrial Membrane Potential through AKT/Bcl-2 Signaling.
study revealed that miR-219a-5p function as tumour suppressor regulates osteosarcoma cell invasiveness by repressing EYA2 expression.
Title: miR-219a-5p represses migration and invasion of osteosarcoma cells via targeting EYA2.
our data indicate that Eya2 may serve as a potential oncoprotein in human astrocytoma. Eya2 regulates astrocytoma cell proliferation and invasion, possibly through the regulation of ERK signaling.
Title: Eya2 overexpression promotes the invasion of human astrocytoma through the regulation of ERK/MMP9 signaling.
EYA2 knockdown led to decreased metastatic spread of breast cancer cells to the lung and greatly attenuated the ability of EGFR to regulate the epithelial-to-mesenchymal transition markers.
Title: The EGFR/miR-338-3p/EYA2 axis controls breast tumor growth and lung metastasis.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-145586 (e-PCR)
- UniSTS:174663

D20S791 (e-PCR)
- UniSTS:61018

WI-14748 (e-PCR)
- UniSTS:74415

D20S817 (e-PCR)
- UniSTS:44237

AL021632 (e-PCR)
- UniSTS:19920

D20S1107 (e-PCR)
- UniSTS:78297

G01530 (e-PCR)
- UniSTS:11487

SHGC-8524 (e-PCR)
- UniSTS:78559

D20S796 (e-PCR)
- UniSTS:81378

RH16187 (e-PCR)
- UniSTS:85474

G05261 (e-PCR)
- UniSTS:82158

AL021631 (e-PCR)
- UniSTS:46583

D20S797 (e-PCR)
- UniSTS:45050

KS608 (e-PCR)
- UniSTS:253179

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables histone H2AXY142 phosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein tyrosine phosphatase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in DNA repair	IEA Inferred from Electronic Annotation more info
involved_in anatomical structure development	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in chromatin remodeling	IEA Inferred from Electronic Annotation more info
involved_in extrinsic apoptotic signaling pathway in absence of ligand	IEA Inferred from Electronic Annotation more info
involved_in mesodermal cell fate specification	TAS Traceable Author Statement more info	PubMed
involved_in mitochondrial outer membrane permeabilization	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of extrinsic apoptotic signaling pathway in absence of ligand	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of DNA repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in striated muscle tissue development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: eyes absent homolog 2

NP_005235.3

EC 3.1.3.48

NP_742108.2

EC 3.1.3.48

XP_005260384.1

EC 3.1.3.48

XP_016883210.1

EC 3.1.3.48

XP_047295966.1

EC 3.1.3.48

XP_054179166.1

EC 3.1.3.48

XP_054179167.1

EC 3.1.3.48

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011673.2 RefSeqGene

Range

4974..298975

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005244.5 → NP_005235.3 eyes absent homolog 2 isoform a

See identical proteins and their annotated locations for NP_005235.3

Status: REVIEWED

Description

Transcript Variant: This variant (1), also known as EYA2I, represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AL022342, AL121776, AL354766, AL359434

Consensus CDS

CCDS13403.1

UniProtKB/Swiss-Prot

O00167, Q5JSW8, Q86U84, Q96CV6, Q96H97, Q99503, Q99812, Q9BWF6, Q9H4S3, Q9H4S9, Q9NPZ4, Q9UIX7

UniProtKB/TrEMBL

A8KAG7

Related

ENSP00000333640.5, ENST00000327619.10

Conserved Domains (2) summary

TIGR01658
Location:267 → 538

EYA-cons_domain; eyes absent protein conserved domain

pfam00702
Location:269 → 514

Hydrolase; haloacid dehalogenase-like hydrolase
NM_172110.4 → NP_742108.2 eyes absent homolog 2 isoform c

See identical proteins and their annotated locations for NP_742108.2

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks an alternate in-frame segment in the 3' coding region, compared to variant 1, resulting in an isoform (c) that is shorter than isoform a.

Source sequence(s)

BC013882

Consensus CDS

CCDS54471.1

UniProtKB/TrEMBL

A8KAG7

Related

ENSP00000349986.3, ENST00000357410.7

Conserved Domains (1) summary

TIGR01658
Location:267 → 459

EYA-cons_domain; eyes absent protein conserved domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000020.11 Reference GRCh38.p14 Primary Assembly

Range

46894843..47188844

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017027721.3 → XP_016883210.1 eyes absent homolog 2 isoform X2

UniProtKB/TrEMBL

E7ETN2, Q66T69

Related

ENSP00000483392.1, ENST00000611592.4
XM_005260327.3 → XP_005260384.1 eyes absent homolog 2 isoform X3

UniProtKB/TrEMBL

A8KAG7

Conserved Domains (2) summary

TIGR01658
Location:185 → 456

EYA-cons_domain; eyes absent protein conserved domain

pfam00702
Location:187 → 432

Hydrolase; haloacid dehalogenase-like hydrolase
XM_047440010.1 → XP_047295966.1 eyes absent homolog 2 isoform X1

UniProtKB/Swiss-Prot

O00167, Q5JSW8, Q86U84, Q96CV6, Q96H97, Q99503, Q99812, Q9BWF6, Q9H4S3, Q9H4S9, Q9NPZ4, Q9UIX7

Alternate T2T-CHM13v2.0

Genomic

NC_060944.1 Alternate T2T-CHM13v2.0

Range

48632937..48926940

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054323191.1 → XP_054179166.1 eyes absent homolog 2 isoform X2

UniProtKB/TrEMBL

E7ETN2
XM_054323192.1 → XP_054179167.1 eyes absent homolog 2 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_172111.1: Suppressed sequence

Description

NM_172111.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_172112.1: Suppressed sequence

Description

NM_172112.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
NM_172113.1: Suppressed sequence

Description

NM_172113.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.