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

Gene ID: 55920, updated on 3-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
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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 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 activation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
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)

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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

  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)