Gene Gene information from NCBI Gene database.
Entrez ID 55920
Gene name Regulator of chromosome condensation 2
Gene symbol RCC2
Synonyms (NCBI Gene)
TD-60
Chromosome 1
Chromosome location 1p36.13
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 biomark
miRNA miRNA information provided by mirtarbase database.
1204
miRTarBase ID miRNA Experiments Reference
MIRT021351 hsa-miR-9-5p Microarray 17612493
MIRT022250 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT023502 hsa-miR-1-3p Proteomics 18668040
MIRT025685 hsa-miR-7-5p Microarray 17612493
MIRT049492 hsa-miR-92a-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005085 Function Guanyl-nucleotide exchange factor activity IEA
GO:0005515 Function Protein binding IPI 22282019, 25074804
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609587 30297 ENSG00000179051
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P258
Protein name Protein RCC2 (RCC1-like protein TD-60) (Telophase disk protein of 60 kDa)
Protein function Multifunctional protein that may affect its functions by regulating the activity of small GTPases, such as RAC1 and RALA (PubMed:12919680, PubMed:25074804, PubMed:26158537, PubMed:28869598). Required for normal progress through the cell cycle, b
PDB 5GWN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00415 RCC1 168 217 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00415 RCC1 220 269 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00415 RCC1 272 345 Regulator of chromosome condensation (RCC1) repeat Repeat
PF00415 RCC1 349 399 Regulator of chromosome condensation (RCC1) repeat Repeat
Sequence
MPRKKAAAAAWEEPSSGNGTARAGPRKRGGPAGRKRERPERCSSSSGGGSSGDEDGLELD
GAPGGGKRAARPATAGKAGGAAVVITEPEHTKERVKLEGSKCKGQLLIFGATNWDLIGRK
EVPKQQAAYRNLGQNLWGPHRYGCLAGVRVRTVVSGSCAAHSLLITTEGKLWSWGRNEKG
QLGHGDTKRVEAPRLIEGLSHEVIVSAACGRNHTLAL
TETGSVFAFGENKMGQLGLGNQT
DAVPSPAQIMYNGQPITKMACGAEFSMIM
DCKGNLYSFGCPEYGQLGHNSDGKFIARAQR
IEYDCELVPRRVAIFIEKTKDGQILPVPNVVVRDVACGANHTLVL
DSQKRVFSWGFGGYG
RLGHAEQKDEMVPRLVKLFDFPGRGASQIYAGYTCSFAV
SEVGGLFFWGATNTSRESTMY
PKAVQDLCGWRIRSLACGKSSIIVAADESTISWGPSPTFGELGYGDHKPKSSTAAQEVKT
LDGIFSEQVAMGYSHSLVIARDESETEKEKIKKLPEYNPRTL
Sequence length 522
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
31
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BILIARY TRACT CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28606921
★☆☆☆☆
Found in Text Mining only
Basal Cell Cancer Basal Cell Neoplasm GWASCAT_DG 27539887, 31174203
★☆☆☆☆
Found in Text Mining only
Basal cell carcinoma Carcinoma GWASCAT_DG 27539887, 31174203
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Basal Cell Neoplasm Basal Cell Neoplasm GWASCAT_DG 27539887, 31174203
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 31839818
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Breast neoplasm Pubtator 33170908 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36441563 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 29321004, 29913439
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 29321004, 30768358, 31749881
★☆☆☆☆
Found in Text Mining only
Clear-cell metastatic renal cell carcinoma Renal Carcinoma BEFREE 20620589
★☆☆☆☆
Found in Text Mining only