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

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: mouse all
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Genomic context

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_000001.11 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 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?

NudCL2 is required for cytokinesis by stabilizing RCC2 with Hsp90 at the midbody.
Title: NudCL2 is required for cytokinesis by stabilizing RCC2 with Hsp90 at the midbody.
RCC2 promotes prostate cancer cell proliferation and migration through Hh/GLI1 signaling pathway and cancer stem-like cells.
Title: RCC2 promotes prostate cancer cell proliferation and migration through Hh/GLI1 signaling pathway and cancer stem-like cells.
LncRNA HOTAIR enhances RCC2 to accelerate cervical cancer progression by sponging miR-331-3p.
Title: LncRNA HOTAIR enhances RCC2 to accelerate cervical cancer progression by sponging miR-331-3p.
The mitotic regulator RCC2 promotes glucose metabolism through BACH1-dependent transcriptional upregulation of hexokinase II in glioma.
Title: The mitotic regulator RCC2 promotes glucose metabolism through BACH1-dependent transcriptional upregulation of hexokinase II in glioma.
RCC2 promotes proliferation and radio-resistance in glioblastoma via activating transcription of DNMT1.
Title: RCC2 promotes proliferation and radio-resistance in glioblastoma via activating transcription of DNMT1.
Study reports that p53 is a transcriptional regulator of RCC2 that acts through its binding to a palindromic motif in the RCC2 promoter. p53 and RCC2 signaling is important for regulation of cell migration and suppression of metastasis.
Title: RCC2 is a novel p53 target in suppressing metastasis.
RCC2 regulates apoptosis by blocking Rac1 signaling. RCC2 expression in tumor can be a useful marker for predicting chemotherapeutic response.
Title: RCC2 over-expression in tumor cells alters apoptosis and drug sensitivity by regulating Rac1 activation.
results suggest that combined exposure to CSE and PM2.5 induces LCPAT1 expression, which up-regulates autophagy, and promotes lung cancer progression via RCC2.
Title: LncRNA LCPAT1 Mediates Smoking/ Particulate Matter 2.5-Induced Cell Autophagy and Epithelial-Mesenchymal Transition in Lung Cancer Cells via RCC2.
RCC2 plays a pivotal role in LUAD metastasis by inducing EMT via activation of MAPK-JNK signaling.
Title: Overexpression of RCC2 Enhances Cell Motility and Promotes Tumor Metastasis in Lung Adenocarcinoma by Inducing Epithelial-Mesenchymal Transition.
Impaired RCC2 affects functional and clinical endpoints of colorectal cancer. High-risk patients with either MSI or MSS tumors can be identified with cost-effective routine RCC2 assays.
Title: Regulator of Chromosome Condensation 2 Identifies High-Risk Patients within Both Major Phenotypes of Colorectal Cancer.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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

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 EBI GWAS CatalogPubMed
Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. EBI GWAS Catalog EBI GWAS CatalogPubMed

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
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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G22339 (e-PCR)
- UniSTS:34322

RH68854 (e-PCR)
- UniSTS:90965

RH47145 (e-PCR)
- UniSTS:85901

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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

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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

NG_051834.1 RefSeqGene

Range

5078..37995

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001136204.3 → NP_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:151 → 481

ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
NM_018715.4 → NP_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:151 → 481

ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]