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RCC2 regulator of chromosome condensation 2 [ Homo sapiens (human) ]

Gene ID: 55920, updated on 17-Jun-2019

Summary

Official Symbol
RCC2provided by HGNC
Official Full Name
regulator of chromosome condensation 2provided by HGNC
Primary source
HGNC:HGNC:30297
See related
Ensembl:ENSG00000179051 MIM:609587
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
TD-60
Summary
The protein encoded by this gene is a guanine exchange factor that is active on RalA, a small GTPase. The encoded protein and RalA are both essential for proper kinetochore-microtubule function in early mitosis. This protein has been shown to be a biomarker for colorectal cancer. [provided by RefSeq, Oct 2016]
Expression
Ubiquitous expression in lymph node (RPKM 29.5), skin (RPKM 28.3) and 25 other tissues See more
Orthologs

Genomic context

See RCC2 in Genome Data Viewer
Location:
1p36.13
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (17406760..17439677, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17733251..17766250, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene peptidyl arginine deiminase 4 Neighboring gene peptidyl arginine deiminase 6 Neighboring gene Rho guanine nucleotide exchange factor 10 like Neighboring gene long intergenic non-protein coding RNA 2810

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?

Phenotypes

NHGRI GWAS Catalog

Description
Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits.
NHGRI GWA Catalog
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
NHGRI GWA Catalog

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
retropepsin gag-pol Positional proteomics analysis identifies the cleavage of human regulator of chromosome condensation 2 (RCC2) at amino acid residues 56-57 by the HIV-1 protease PubMed

Go to the HIV-1, Human Interaction Database

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...
  • M Phase, organism-specific biosystem (from REACTOME)
    M Phase, organism-specific biosystemMitosis, or the M phase, involves nuclear division and cytokinesis, where two identical daughter cells are produced. Mitosis involves prophase, prometaphase, metaphase, anaphase, and telophase. Fin...
  • Mitotic Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Anaphase, organism-specific biosystemIn anaphase, the paired chromosomes separate at the centromeres, and move to the opposite sides of the cell. The movement of the chromosomes is facilitated by a combination of kinetochore movement al...
  • Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
    Mitotic Metaphase and Anaphase, organism-specific biosystemMetaphase is marked by the formation of the metaphase plate. The metaphase plate is formed when the spindle fibers align the chromosomes along the middle of the cell. Such an organization helps to ...
  • Mitotic Prometaphase, organism-specific biosystem (from REACTOME)
    Mitotic Prometaphase, organism-specific biosystemThe dissolution of the nuclear membrane marks the beginning of the prometaphase. Kinetochores are created when proteins attach to the centromeres. Microtubules then attach at the kinetochores, and th...
  • RHO GTPase Effectors, organism-specific biosystem (from REACTOME)
    RHO GTPase Effectors, organism-specific biosystemRHO GTPases regulate cell behaviour by activating a number of downstream effectors that regulate cytoskeletal organization, intracellular trafficking and transcription (reviewed by Sahai and Marshall...
  • RHO GTPases Activate Formins, organism-specific biosystem (from REACTOME)
    RHO GTPases Activate Formins, organism-specific biosystemFormins are a family of proteins with 15 members in mammals, organized into 8 subfamilies. Formins are involved in the regulation of actin cytoskeleton. Many but not all formin family members are act...
  • Resolution of Sister Chromatid Cohesion, organism-specific biosystem (from REACTOME)
    Resolution of Sister Chromatid Cohesion, organism-specific biosystemThe resolution of sister chromatids in mitotic prometaphase involves removal of cohesin complexes from chromosomal arms, with preservation of cohesion at centromeres (Losada et al. 1998, Hauf et al. ...
  • Separation of Sister Chromatids, organism-specific biosystem (from REACTOME)
    Separation of Sister Chromatids, organism-specific biosystemWhile sister chromatids resolve in prometaphase, separating along chromosomal arms, the cohesion of sister centromeres persists until anaphase. At the anaphase onset, the anaphase promoting complex/c...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Rho GTPases, organism-specific biosystem (from REACTOME)
    Signaling by Rho GTPases, organism-specific biosystemThe Rho family of small guanine nucleotide binding proteins is one of five generally recognized branches of the Ras superfamily. Like most Ras superfamily members, typical Rho proteins function as bi...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1470, DKFZp762N0610

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
Rac GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
microtubule binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
small GTPase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
cell cycle IEA
Inferred from Electronic Annotation
more info
 
cell division IEA
Inferred from Electronic Annotation
more info
 
chromosome passenger complex localization to kinetochore IMP
Inferred from Mutant Phenotype
more info
PubMed 
establishment of protein localization IEA
Inferred from Electronic Annotation
more info
 
focal adhesion assembly IDA
Inferred from Direct Assay
more info
PubMed 
integrin-mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of GTPase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of focal adhesion assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of substrate adhesion-dependent cell spreading ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of G2/M transition of mitotic cell cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of attachment of spindle microtubules to kinetochore IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of fibroblast migration IEA
Inferred from Electronic Annotation
more info
 
regulation of ruffle assembly IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chromosome, centromeric core domain IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
colocalizes_with membrane IDA
Inferred from Direct Assay
more info
PubMed 
microtubule IEA
Inferred from Electronic Annotation
more info
 
midbody IDA
Inferred from Direct Assay
more info
PubMed 
mitotic spindle midzone IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
protein RCC2
Names
RCC1-like protein TD-60
epididymis secretory sperm binding protein
telophase disk protein of 60 kDa

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_051834.1 RefSeqGene

    Range
    5001..38000
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001136204.3NP_001129676.1  protein RCC2

    See identical proteins and their annotated locations for NP_001129676.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB040903, BC004933, BC053908, BQ774471
    Consensus CDS
    CCDS181.1
    UniProtKB/Swiss-Prot
    Q9P258
    UniProtKB/TrEMBL
    A0A024RAC5
    Related
    ENSP00000364582.3, ENST00000375433.3
    Conserved Domains (1) summary
    cl27697
    Location:151481
    RCC1; Regulator of chromosome condensation (RCC1) repeat
  2. NM_018715.4NP_061185.1  protein RCC2

    See identical proteins and their annotated locations for NP_061185.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AB040903, BC004933, BQ774471
    Consensus CDS
    CCDS181.1
    UniProtKB/Swiss-Prot
    Q9P258
    UniProtKB/TrEMBL
    A0A024RAC5
    Related
    ENSP00000364585.4, ENST00000375436.9
    Conserved Domains (1) summary
    cl27697
    Location:151481
    RCC1; Regulator of chromosome condensation (RCC1) repeat

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    17406760..17439677 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 PATCHES

Genomic

  1. NW_011332688.1 Reference GRCh38.p13 PATCHES

    Range
    251983..284900 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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