ESCO2 - establishment of sister chromatid cohesion N-acetyltransferase 2 Gene

Also Known as JHS; RBS; EFO2; EFO2p; hEFO2; 2410004I17Rik

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 157570

About ESCO2

Cytogenetic location: 8p21.1 Genomic coordinates (GRCh38): 8:27,771,974-27,819,660 (from NCBI)

This gene has 8 transcripts (splice variants), 205 orthologues, 5 paralogues and is associated with 4 phenotypes. Biased expression in testis (RPKM 3.1), duodenum (RPKM 2.9) and 13 other tissues.

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]

ESCO2 Products (1)

mRNA	Protein	Name
NM_001017420.3	NP_001017420.1	N-acetyltransferase ESCO2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables acetyltransferase activity	IDA IDA: Inferred from direct assay	15958495	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in post-translational protein acetylation	IMP IMP: Inferred from mutant phenotype	21111234	GOA
involved in regulation of DNA replication	IMP IMP: Inferred from mutant phenotype	19907496	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromatin	IDA IDA: Inferred from direct assay	19907496	GOA
located in chromosome	IDA IDA: Inferred from direct assay	15958495	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ESCO2 Protein Structure

zf-C2H2_3

Acetyltransf_13

0
100
200
300
400
500
601 a.a.

Protein Preferred Names	Protein Names
N-acetyltransferase ESCO2	ECO1 homolog 2

ESCO2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ESCO2	Q56NI9	FXR1	Homo sapiens	P51114-2	Y2H Prey Pooling	32296183
Intra	ESCO2	Q56NI9	FXR1	Homo sapiens	P51114-2	Y2H Array	32296183
Intra	ESCO2	Q56NI9	RABEP1	Homo sapiens	Q15276	Y2H Prey Pooling	32296183
Intra	ESCO2	Q56NI9	RABEP1	Homo sapiens	Q15276	Y2H Array	32296183
Intra	ESCO2	Q56NI9	GOLGA2	Homo sapiens	Q08379	Y2H Prey Pooling	32296183
Intra	ESCO2	Q56NI9	GOLGA2	Homo sapiens	Q08379	Y2H Array	32296183
Intra	ESCO2	Q56NI9	PICK1	Homo sapiens	Q9NRD5	Y2H Array	32296183
Intra	ESCO2	Q56NI9	PICK1	Homo sapiens	Q9NRD5	Validated Y2H	32296183
Intra	ESCO2	Q56NI9	PICK1	Homo sapiens	Q9NRD5	Y2H Prey Pooling	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Roberts-Sc Phocomelia Syndrome	Roberts Syndrome Sc Phocomelia Syndrome RBS Long Bone Deficiencies Associated With Cleft Lip-Palate Sc Pseudothalidomide Syndrome Appelt-Gerken-Lenz Syndrome Pseudothalidomide Syndrome Tetraphocomelia-Cleft Palate Syndrome Hypomelia Hypotrichosis Facial Hemangioma Syndrome Roberts Syndrome/Sc Phocomelia Roberts Tetraphocomelia Syndrome Sc Syndrome Sc Phocomelia Sc Disease Sc Hemoglobin Sc Disease
Juberg-Hayward Syndrome	Cleft Lip/Palate With Abnormal Thumbs And Microcephaly Orocraniodigital Syndrome JHS Cleft Lip/Palate With Radial Head And Digital Anomalies Cleft Lip/Palate-Abnormal Thumbs-Microcephaly Syndrome
Phocomelia	Phocomelia Syndrome
Cornelia De Lange Syndrome	De Lange Syndrome Brachmann De Lange Syndrome Brachmann-De Lange Syndrome Cdls Bdls Typus Degenerativus Amstelodamensis
Humeroradial Synostosis	Humero-Radial Fusion Humero-Radial Synostosis Ramer Ladda Syndrome
Chronic Atrial And Intestinal Dysrhythmia	CAID Caid Syndrome Cohesinopathy Affecting Heart And Gut Rhythm Chronic Atrial Intestinal Dysrhythmia Syndrome Chronic Atrial And Intestinal Dysrhythmia Syndrome Chronic Atrial Dysrhythmia-Intestinal Motility Disorder Dysrhythmia, Atrial And Intestinal, Chronic
Warsaw Breakage Syndrome	WABS WBRS
Orofaciodigital Syndrome X	OFD10 Orofaciodigital Syndrome With Fibular Aplasia Oral-Facial-Digital Syndrome With Fibular Aplasia Ofds X Oral-Facial-Digital Syndrome, Type X Orofaciodigital Syndrome 10 Ofd Syndrome 10 Ofds 10 Oral Facial Digital Syndrome 10 Oral Facial Digital Syndrome Type 10 Oral-Facial-Digital Syndrome 10 Orofaciodigital Syndrome Type Figuera Orofaciodigital Syndrome Type 10 Figuera Syndrome Oral-Facial-Digital Syndrome Type 10
Mullegama-Klein-Martinez Syndrome	MKMS Nedxcf Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities X-Linked Neurodevelopmental Disorder With Craniofacial Abnormalities
Metaphyseal Chondrodysplasia, Schmid Type	MCDS Schmid Metaphyseal Chondrodysplasia Metaphyseal Chondrodysplasia Schmid Type Spondylometaphyseal Dysplasia, Japanese Type Japanese Type Spondylometaphyseal Dysplasia Schmid Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia Type Schmid Schmid Type Metaphyseal Chondrodysplasia SMCD Chondrodysplasia, Metaphyseal, Schmid Type Corneal Dystrophy, Subepithelial Mucinous
Baller-Gerold Syndrome	BGS Craniosynostosis With Radial Defects Craniosynostosis-Radial Aplasia Syndrome Craniosynostosis Radial Aplasia Syndrome
Duane-Radial Ray Syndrome	Okihiro Syndrome DRRS Dr Syndrome Duane Anomaly With Radial Ray Abnormalities And Deafness Acrorenoocular Syndrome Acrorenocular Syndrome Duane Anomaly With Radial Abnormalities And Deafness Acro-Renal-Ocular Syndrome
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Cornelia De Lange Syndrome 4 CDLS4 Cornelia De Lange Syndrome, Type 4
Intellectual Developmental Disorder, Autosomal Dominant 21	MRD21 Mental Retardation, Autosomal Dominant 21 Autosomal Dominant Non-Syndromic Intellectual Disability 21 Autosomal Dominant Intellectual Developmental Disorder 21 Autosomal Dominant Mental Retardation 21 Ctcf-Related Neurodevelopmental Disorder Mental Retardation, Autosomal Dominant, Type 21
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Thrombocytopenia-Absent Radius Syndrome	Tar Syndrome Radial Aplasia-Thrombocytopenia Syndrome Absent Radii And Thrombocytopenia TAR Chromosome 1q21.1 Deletion Syndrome, 200-Kb Thrombocytopenia Absent Radius Syndrome Thrombocytopenia Absent Radii Chromosome 1q21.1 Deletion Syndrome Thrombocytopenia With Absent Radii Syndrome Radial Aplasia-Amegakaryocytic Thrombocytopenia
Familial Isolated Trichomegaly	Long Eyelashes Tcmgly
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome	Icf Syndrome Immunodeficiency Syndrome, Variable Ciid Centromeric Instability, Immunodeficiency Syndrome Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16 Icf
Alpha-Thalassemia	Alpha Thalassemia Alpha Thalassaemia Alpha Plus Thalassemia Thalassemia, Alpha- Thalassemias, Alpha- A-Thalassemia Α-Thalassemia A-THAL Thalassemia Alpha Thalassaemia Syndrome
Orofacial Cleft	Cleft, Orofacial
Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia Aase Syndrome Erythrogenesis Imperfecta Anemia, Diamond-Blackfan Congenital Hypoplastic Anemia Aase-Smith Ii Syndrome Bds Blackfan-Diamond Anemia Congenital Prca Congenital Hypoplastic Anemia, Blackfan-Diamond Type Dba Blackfan - Diamond Syndrome Chronic Constitutional Pure Red Cell Anaemia Anemia Diamond Blackfan Type Anemia Congenital Erythroid Hypoplastic Aregenerative Anemia Chronic Congenital Blackfan Diamond Syndrome Red Cell Aplasia, Pure Hereditary Aase-Smith Syndrome Ii Bda Blackfan Diamond Anemia Blackfan-Diamond Disease Blackfan-Diamond Syndrome Chronic Congenital Agenerative Anemia Congenital Erythroid Hypoplastic Anemia Congenital Hypoplastic Anemia Of Blackfan And Diamond Congenital Pure Red Cell Anemia Hypoplastic Congenital Anemia Inherited Erythroblastopenia Pure Hereditary Red Cell Aplasia Anemia, Hypoplastic, Congenital Anemia Hypoplastic Congenital Fanconi Anemia Constitutional Aplastic Anemia Diamond-Blackfan Anemia 1 Aase Smith Syndrome 2 Congenital Red Cell Aplasia Red Cell Aplasia Of Infants Pure Red Cell Aplasia Of Infants Congenital Red Cell Aplastic Anaemia Congenital Pure Red Cell Anaemia Congenital Erythroid Hypoplasia Pearson Marrow-Pancreas Syndrome
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N6896	Isoviolanthin	Inhibitor	99.87%	Unkown
HY-RS04523	ESCO2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	ESCO2	VGNC	VGNC:61960
Rattus norvegicus	ESCO2	RGD	RGD:1593313
Canis familiaris	ESCO2	VGNC	VGNC:40471
Mus musculus	ESCO2	MGD	MGI:1919238
Bos taurus	ESCO2	VGNC	VGNC:59196
Macaca mulatta	ESCO2	VGNC	VGNC:72374
Others	ESCO2	NCBI