RFC2
entrez
5982
canonical
uniprot
P35250
canonical
ensembl
ENSG00000049541
resolver
ensp
ENSP00000055077
resolver
ensp
ENSP00000275627
resolver
ensp
ENSP00000479768
resolver
ensp
ENSP00000528370
resolver
ensp
ENSP00000652600
resolver
enst
ENST00000621097
resolver
genesymbol
RFC2
resolver
hgnc
HGNC:9970
resolver
uniprot
A0A087WVY3
resolver
uniprot
B5BU07
resolver
uniprot
D3DXG3
resolver
uniprot
P32846
resolver
uniprot
Q75MT5
resolver
uniprot
Q9BU93
resolver
uniprot_entry
A0A087WVY3_HUMAN
resolver
uniprot_entry
Q75MT5_HUMAN
resolver
uniprot_entry
RFC2_HUMAN
resolver
uniprot_sec
B5BU07
resolver
uniprot_sec
D3DXG3
resolver
uniprot_sec
P32846
resolver
uniprot_sec
Q9BU93
resolver
amino_acid_sequence
MEVEAVCGGAGEVEAQDSDPAPAFSKAPGSAGHYELPWVEKYRPVKLNEIVGNEDTVSRLEVFAREGNVPNIIIAGPPGTGKTTSILCLARALLGPALKDAMLELNASNDRGIDVVRNKIKMFAQQKVTLPKGRHKIIILDEADSMTDGAQQALRRTMEIYSKTTRFALACNASDKIIEPIQSRCAVLRYTKLTDAQILTRLMNVIEKERVPYTDDGLEAIIFTAQGDMRQALNNLQSTFSGFGFINSENVFKVCDEPHPLLVKEMIQHCVNANIDEAYKILAHLWHLGYSPEDIIGNIFRVCKTFQMAEYLKLEFIKEIGYTHMKIAEGVNSLLQMAGLLARLCQKTMAPVAS
uniprot
proteins
disease_involvement
DISEASE: Note=RFC2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region (PubMed:11003705). {ECO:0000269|PubMed:11003705}.
uniprot
proteins
function
FUNCTION: Subunit of the replication factor C (RFC) complex which acts during elongation of primed DNA templates by DNA polymerases delta and epsilon, and is necessary for ATP-dependent loading of proliferating cell nuclear antigen (PCNA) onto primed DNA (PubMed:9488738). This subunit binds ATP (By similarity). {ECO:0000250, ECO:0000269|PubMed:9488738}.
uniprot
proteins
mass_dalton
39157
uniprot
proteins
protein_family
Activator 1 small subunits family
uniprot
proteins
pubmed
11003705
uniprot
proteins
pubmed
11572977
uniprot
proteins
pubmed
12853948
uniprot
proteins
pubmed
1313560
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15655353
uniprot
proteins
pubmed
18499658
uniprot
proteins
pubmed
19054851
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
8999859
uniprot
proteins
pubmed
9488738
uniprot
proteins
sequence_length
354
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
uniprot
proteins