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ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 157570, updated on 17-Jun-2019

Summary

Official Symbol
ESCO2provided by HGNC
Official Full Name
establishment of sister chromatid cohesion N-acetyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:27230
See related
Ensembl:ENSG00000171320 MIM:609353
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
RBS; EFO2; EFO2p; hEFO2; 2410004I17Rik
Summary
This gene encodes a protein that may have acetyltransferase activity and may be required for the establishment of sister chromatid cohesion during the S phase of mitosis. Mutations in this gene have been associated with Roberts syndrome. [provided by RefSeq, Jul 2008]
Expression
Biased expression in testis (RPKM 3.1), duodenum (RPKM 2.9) and 13 other tissues See more
Orthologs

Genomic context

See ESCO2 in Genome Data Viewer
Location:
8p21.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (27771949..27812430)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27632057..27670141)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene scavenger receptor class A member 3 Neighboring gene microRNA 3622b Neighboring gene microRNA 3622a Neighboring gene uncharacterized LOC107986934 Neighboring gene coiled-coil domain containing 25 Neighboring gene RNA, U6 small nuclear 1276, pseudogene Neighboring gene TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa pseudogene Neighboring gene PDZ binding kinase Neighboring gene SCARA5 intron CAGE-defined high expression enhancer Neighboring gene scavenger receptor class A member 5

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cell Cycle, organism-specific biosystem (from REACTOME)
    Cell Cycle, organism-specific biosystem
    Cell Cycle
  • Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
    Cell Cycle, Mitotic, organism-specific biosystemThe replication of the genome and the subsequent segregation of chromosomes into daughter cells are controlled by a series of events collectively known as the cell cycle. DNA replication is carried o...
  • Establishment of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Establishment of Sister Chromatid Cohesion, organism-specific biosystemThe cohesin complex loads onto chromatin in telophase, but its association with chromatin remains transient, dynamic until the S-phase of the cell cycle, presumably because the cohesin-bound NIPBL:MA...
  • S Phase, organism-specific biosystem (from REACTOME)
    S Phase, organism-specific biosystemDNA synthesis occurs in the S phase, or the synthesis phase, of the cell cycle. The cell duplicates its hereditary material, and two copies of the chromosome are formed. As DNA replication continues,...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetyltransferase activity IDA
Inferred from Direct Assay
more info
PubMed 
lysine N-acetyltransferase activity, acting on acetyl phosphate as donor IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
double-strand break repair IEA
Inferred from Electronic Annotation
more info
 
hematopoietic progenitor cell differentiation IEA
Inferred from Electronic Annotation
more info
 
post-translational protein acetylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
post-translational protein acetylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to chromatin IEA
Inferred from Electronic Annotation
more info
 
regulation of DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
sister chromatid cohesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
XY body IEA
Inferred from Electronic Annotation
more info
 
cell junction IDA
Inferred from Direct Assay
more info
 
chromatin IDA
Inferred from Direct Assay
more info
PubMed 
chromocenter IEA
Inferred from Electronic Annotation
more info
 
chromosome IDA
Inferred from Direct Assay
more info
PubMed 
nuclear pericentric heterochromatin IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
 
site of double-strand break IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
N-acetyltransferase ESCO2
Names
ECO1 homolog 2
establishment factor-like protein 2
NP_001017420.1
XP_011542723.1
XP_011542724.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_008117.1 RefSeqGene

    Range
    5001..35368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001017420.3NP_001017420.1  N-acetyltransferase ESCO2

    See identical proteins and their annotated locations for NP_001017420.1

    Status: REVIEWED

    Source sequence(s)
    AC104997, AF306679, AY882862
    Consensus CDS
    CCDS34872.1
    UniProtKB/Swiss-Prot
    Q56NI9
    Related
    ENSP00000306999.8, ENST00000305188.12
    Conserved Domains (2) summary
    pfam13878
    Location:374413
    zf-C2H2_3; zinc-finger of acetyl-transferase ESCO
    pfam13880
    Location:529591
    Acetyltransf_13; ESCO1/2 acetyl-transferase

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    27771949..27812430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011544421.2XP_011542723.1  N-acetyltransferase ESCO2 isoform X1

    See identical proteins and their annotated locations for XP_011542723.1

    UniProtKB/Swiss-Prot
    Q56NI9
    Conserved Domains (2) summary
    pfam13878
    Location:374413
    zf-C2H2_3; zinc-finger of acetyl-transferase ESCO
    pfam13880
    Location:529591
    Acetyltransf_13; ESCO1/2 acetyl-transferase
  2. XM_011544422.2XP_011542724.1  N-acetyltransferase ESCO2 isoform X2

    Conserved Domains (2) summary
    pfam13878
    Location:374413
    zf-C2H2_3; zinc-finger of acetyl-transferase ESCO
    pfam13880
    Location:529591
    Acetyltransf_13; ESCO1/2 acetyl-transferase

RNA

  1. XR_949378.3 RNA Sequence

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