ESCO2
entrez
157570
canonical
uniprot
Q56NI9
canonical
ensembl
ENSG00000171320
resolver
ensp
ENSP00000306999
resolver
genesymbol
ESCO2
resolver
hgnc
HGNC:27230
resolver
uniprot
B3KW59
resolver
uniprot
Q49AP4
resolver
uniprot_entry
ESCO2_HUMAN
resolver
uniprot_sec
B3KW59
resolver
uniprot_sec
Q49AP4
resolver
amino_acid_sequence
MAALTPRKRKQDSLKCDSLLHFTENLFPSPNKKHCFYQNSDKNEENLHCSQQEHFVLSALKTTEINRLPSANQGSPFKSALSTVSFYNQNKWYLNPLERKLIKESRSTCLKTNDEDKSFPIVTEKMQGKPVCSKKNNKKPQKSLTAKYQPKYRHIKPVSRNSRNSKQNRVIYKPIVEKENNCHSAENNSNAPRVLSQKIKPQVTLQGGAAFFVRKKSSLRKSSLENEPSLGRTQKSKSEVIEDSDVETVSEKKTFATRQVPKCLVLEEKLKIGLLSASSKNKEKLIKDSSDDRVSSKEHKVDKNEAFSSEDSLGENKTISPKSTVYPIFSASSVNSKRSLGEEQFSVGSVNFMKQTNIQKNTNTRDTSKKTKDQLIIDAGQKHFGATVCKSCGMIYTASNPEDEMQHVQHHHRFLEGIKYVGWKKERVVAEFWDGKIVLVLPHDPSFAIKKVEDVQELVDNELGFQQVVPKCPNKIKTFLFISDEKRVVGCLIAEPIKQAFRVLSEPIGPESPSSTECPRAWQCSDVPEPAVCGISRIWVFRLKRRKRIARRLVDTLRNCFMFGCFLSTDEIAFSDPTPDGKLFATKYCNTPNFLVYNFNS
uniprot
proteins
disease_involvement
DISEASE: Roberts-SC phocomelia syndrome (RBS) [MIM:268300]: An autosomal recessive disorder characterized by pre- and postnatal growth retardation, intellectual disability, microcephaly, bilateral cleft lip and cleft palate, and mesomelic symmetric limb reduction. Severely affected infants may be stillborn or die shortly after birth. Patient chromosomes have a lack of cohesion involving heterochromatic C-banding regions around centromeres and the heterochromatin regions on the 1, 9, 16, and Y chromosomes. These findings are referred to as premature centromere separation (PCS) and heterochromatin repulsion (HR), and they are important for the diagnosis of the syndrome. {ECO:0000269|PubMed:15821733, ECO:0000269|PubMed:16380922}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Juberg-Hayward syndrome (JHS) [MIM:216100]: An autosomal recessive syndrome characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head, and fusion of humerus and radius leading to elbow restriction. {ECO:0000269|PubMed:32255174, ECO:0000269|PubMed:32977150}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.1.-
uniprot
proteins
function
FUNCTION: Acetyltransferase required for the establishment of sister chromatid cohesion (PubMed:15821733, PubMed:15958495). Couples the processes of cohesion and DNA replication to ensure that only sister chromatids become paired together. In contrast to the structural cohesins, the deposition and establishment factors are required only during the S phase. Acetylates the cohesin component SMC3 (PubMed:21111234). {ECO:0000269|PubMed:15821733, ECO:0000269|PubMed:15958495, ECO:0000269|PubMed:19907496, ECO:0000269|PubMed:21111234}.
uniprot
proteins
mass_dalton
68307
uniprot
proteins
protein_family
Acetyltransferase family
uniprot
proteins
protein_family
ECO subfamily
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15821733
uniprot
proteins
pubmed
15958495
uniprot
proteins
pubmed
16380922
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18220336
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19907496
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21111234
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
32255174
uniprot
proteins
pubmed
32977150
uniprot
proteins
sequence_length
601
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15958495, ECO:0000269|PubMed:19907496}. Chromosome {ECO:0000269|PubMed:15958495, ECO:0000269|PubMed:19907496}. Note=Nuclear in interphase cells, excluded from chromosomes during metaphase but reassociates with chromosomes in telophase. {ECO:0000269|PubMed:15958495}.
uniprot
proteins