U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from GEO Profiles

    • Showing Current items.

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

    Gene ID: 55920, updated on 27-Nov-2024

    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; AllianceGenome:HGNC:30297
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See RCC2 in Genome Data Viewer
    Location:
    1p36.13
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (17406760..17439677, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (17220707..17253705, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (17733256..17766173, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17642404-17642961 Neighboring gene peptidyl arginine deiminase 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17685053-17685772 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17703685-17704186 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:17707761-17708960 Neighboring gene peptidyl arginine deiminase 6 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:17720217-17721416 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17727331-17728267 Neighboring gene RCC2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17743473-17744343 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17746283-17746817 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:17748547-17749301 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17752063-17752701 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:17754621-17755259 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:17755305-17755919 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 342 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 343 Neighboring gene uncharacterized LOC124903862 Neighboring gene small nucleolar RNA U13

    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 Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • KIAA1470, DKFZp762N0610

    Gene Ontology Provided by GOA

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

    NEW Try the new Transcript table

    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
      5078..37995
      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
      Q8IVL9, Q9BSN6, Q9NPV8, Q9P258
      UniProtKB/TrEMBL
      A0A024RAC5, A0A384NYY6, A5PLK7
      Related
      ENSP00000364582.3, ENST00000375433.3
      Conserved Domains (1) summary
      COG5184
      Location:151481
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
    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
      Q8IVL9, Q9BSN6, Q9NPV8, Q9P258
      UniProtKB/TrEMBL
      A0A024RAC5, A0A384NYY6, A5PLK7
      Related
      ENSP00000364585.4, ENST00000375436.9
      Conserved Domains (1) summary
      COG5184
      Location:151481
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_011332688.1 Reference GRCh38.p14 PATCHES

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      17220707..17253705 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)