RFC2 replication factor C subunit 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RFC2provided by HGNC
Official Full Name: replication factor C subunit 2provided by HGNC
Primary source: HGNC:HGNC:9970
See related: Ensembl:ENSG00000049541 MIM:600404; AllianceGenome:HGNC:9970
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: RFC40
Summary: This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, proliferating cell nuclear antigen (PCNA) and replication factor C (RFC). Replication factor C, also called activator 1, is a protein complex consisting of five distinct subunits. This gene encodes the 40 kD subunit, which has been shown to be responsible for binding ATP and may help promote cell survival. Disruption of this gene is associated with Williams syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene of this gene has been defined on chromosome 2. [provided by RefSeq, Jul 2013]
Expression: Ubiquitous expression in lymph node (RPKM 10.0), placenta (RPKM 8.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q11.23

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (74231502..74254399, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (75433796..75456693, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (73645832..73668729, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

RFC2 promotes aerobic glycolysis and progression of colorectal cancer.
Title: RFC2 promotes aerobic glycolysis and progression of colorectal cancer.
CircCOL1A2 Sponges MiR-1286 to Promote Cell Invasion and Migration of Gastric Cancer by Elevating Expression of USP10 to Downregulate RFC2 Ubiquitination Level.
Title: CircCOL1A2 Sponges MiR-1286 to Promote Cell Invasion and Migration of Gastric Cancer by Elevating Expression of USP10 to Downregulate RFC2 Ubiquitination Level.
RFC2: a prognosis biomarker correlated with the immune signature in diffuse lower-grade gliomas.
Title: RFC2: a prognosis biomarker correlated with the immune signature in diffuse lower-grade gliomas.
Up-regulated RFC2 predicts unfavorable progression in hepatocellular carcinoma.
Title: Up-regulated RFC2 predicts unfavorable progression in hepatocellular carcinoma.
Observational study of gene-disease association. (HuGE Navigator)
Title: Polymorphisms in the base excision repair pathway and graft-versus-host disease.
Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
Title: Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.
RPA plays a regulatory role in DNA damage responses via repression of RFC2 ubiquitylation in human cells.
Title: DNA damage-induced ubiquitylation of RFC2 subunit of replication factor C complex.
Upregulation by BCR/ABL requires activation of STAT5 and plays a key role in the BCR/ABL-mediated cell protection from apoptosis.
Title: Complementary functions of the antiapoptotic protein A1 and serine/threonine kinase pim-1 in the BCR/ABL-mediated leukemogenesis.
The cAMP functions as an upstream modulator that regulates the expression and nuclear translocation of RFC40 protein.
Title: Cyclic AMP regulates the expression and nuclear translocation of RFC40 in MCF7 cells.
evidence is presented for a novel interaction between RFC40 and the RIalpha subunit of PKA; findings indicate that modulation in the formation of the RFC40-RIa complex is associated with decreased cell survival
Title: The second subunit of the replication factor C complex (RFC40) and the regulatory subunit (RIalpha) of protein kinase A form a protein complex promoting cell survival.

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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat interacts with the RNA polymerase II holoenzyme, which includes RFC, during Tat-mediated transactivation of the HIV-1 LTR	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-22097 (e-PCR)
- UniSTS:22552

RFC2 (e-PCR)
- UniSTS:47404

G67237 (e-PCR)
- UniSTS:186468

G67238 (e-PCR)
- UniSTS:186469

G67239 (e-PCR)
- UniSTS:186470

G67240 (e-PCR)
- UniSTS:186471

G67235 (e-PCR)
- UniSTS:186472

G67236 (e-PCR)
- UniSTS:186473

SHGC-83052 (e-PCR)
- UniSTS:96146

GDB:1317582 (e-PCR)
- UniSTS:29084

SHGC-32392 (e-PCR)
- UniSTS:10415

D5S1597E (e-PCR)
- UniSTS:151019

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables DNA binding	IEA Inferred from Electronic Annotation more info
contributes_to DNA clamp loader activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to DNA clamp loader activity	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
contributes_to single-stranded DNA helicase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	IEA Inferred from Electronic Annotation more info
involved_in DNA repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA-templated DNA replication	IBA Inferred from Biological aspect of Ancestor more info
involved_in DNA-templated DNA replication	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-directed DNA polymerase activity	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
part_of Ctf18 RFC-like complex	IDA Inferred from Direct Assay more info	PubMed
part_of DNA replication factor C complex	IBA Inferred from Biological aspect of Ancestor more info
part_of DNA replication factor C complex	IDA Inferred from Direct Assay more info	PubMed
part_of DNA replication factor C complex	IPI Inferred from Physical Interaction more info	PubMed
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: replication factor C subunit 2

Names: A1 40 kDa subunit; RF-C 40 kDa subunit; activator 1 subunit 2; replication factor C (activator 1) 2, 40kDa

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_008102.1 RefSeqGene

Range

5010..27907

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001278791.2 → NP_001265720.1 replication factor C subunit 2 isoform 3

See identical proteins and their annotated locations for NP_001265720.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate splice site in its 5' UTR, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AW450467, BC002813, BM563468, HY046046, HY056452

UniProtKB/Swiss-Prot

P35250

Conserved Domains (1) summary

PLN03025
Location:2 → 247

PLN03025; replication factor C subunit; Provisional
NM_001278792.2 → NP_001265721.1 replication factor C subunit 2 isoform 4

See identical proteins and their annotated locations for NP_001265721.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an exon in the central coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.

Source sequence(s)

AW450467, BC002813, BM810551, HY046046, HY056452

Consensus CDS

CCDS75618.1

UniProtKB/TrEMBL

A0A087WVY3

Related

ENSP00000479768.1, ENST00000621097.4

Conserved Domains (1) summary

PLN03025
Location:5 → 245

PLN03025; replication factor C subunit; Provisional
NM_001278793.2 → NP_001265722.1 replication factor C subunit 2 isoform 5

See identical proteins and their annotated locations for NP_001265722.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) uses an alternate splice site in its 5' UTR, lacks an in-frame exon in its 5' coding region, and begins translation at a downstream start codon, compared to variant 1. The encoded isoform (5) is shorter, compared to isoform 1.

Source sequence(s)

AW450467, BC002813, BQ674131, HY046046, HY056452

UniProtKB/TrEMBL

H7C5P4

Conserved Domains (3) summary

PLN03025
Location:9 → 213

PLN03025; replication factor C subunit; Provisional

pfam08542
Location:139 → 207

Rep_fac_C; Replication factor C C-terminal domain

pfam16193
Location:73 → 101

AAA_assoc_2; AAA C-terminal domain
NM_002914.5 → NP_002905.2 replication factor C subunit 2 isoform 2

See identical proteins and their annotated locations for NP_002905.2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AW450467, BC002813, HY046046, HY056452

Consensus CDS

CCDS5567.1

UniProtKB/TrEMBL

B5BUD2, Q75MT5

Related

ENSP00000275627.3, ENST00000352131.7

Conserved Domains (4) summary

cd00009
Location:51 → 151

AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...

PLN03025
Location:36 → 314

PLN03025; replication factor C subunit; Provisional

pfam08542
Location:240 → 308

Rep_fac_C; Replication factor C C-terminal domain

pfam16193
Location:174 → 202

AAA_assoc_2; AAA C-terminal domain
NM_181471.3 → NP_852136.1 replication factor C subunit 2 isoform 1

See identical proteins and their annotated locations for NP_852136.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AB451243, AW450467, BC002813, HY046046, HY056452

Consensus CDS

CCDS5568.1

UniProtKB/Swiss-Prot

B5BU07, D3DXG3, P32846, P35250, Q9BU93

UniProtKB/TrEMBL

B5BUD2

Related

ENSP00000055077.3, ENST00000055077.8

Conserved Domains (1) summary

PLN03025
Location:36 → 348

PLN03025; replication factor C subunit; Provisional