Description: Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA. RefSeq Summary (NM_001136204): 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]. Transcript (Including UTRs) Position: hg19 chr1:17,733,251-17,765,059 Size: 31,809 Total Exon Count: 12 Strand: - Coding Region Position: hg19 chr1:17,735,586-17,765,010 Size: 29,425 Coding Exon Count: 12
ID:RCC2_HUMAN DESCRIPTION: RecName: Full=Protein RCC2; AltName: Full=RCC1-like protein TD-60; AltName: Full=Telophase disk protein of 60 kDa; FUNCTION: Required for completion of mitosis and cytokinesis. May function as a guanine nucleotide exchange factor for the small GTPase RAC1. SUBUNIT: Binds preferentially to the nucleotide-free form of RAC1. Interacts with microtubules. SUBCELLULAR LOCATION: Nucleus, nucleolus. Chromosome, centromere. Cytoplasm, cytoskeleton, spindle. Note=Appears in the nucleus at G2, then concentrates at the inner centromere region of chromosomes during prophase. Redistributes to the midzone of the mitotic spindle during anaphase. Here, the protein covers the entire equatorial diameter from cortex to cortex. PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. SIMILARITY: Contains 7 RCC1 repeats. SEQUENCE CAUTION: Sequence=BAA95994.1; Type=Erroneous initiation; Sequence=CAB94882.1; Type=Frameshift; Positions=477;
Basal cell carcinoma (cutaneous) Stacey ,et al. 2008, Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits, Nature genetics 2008 40- 11 : 1313-8.
[PubMed 18849993]
Hepatitis C, Chronic Christian M Lange et al. Hepatology (Baltimore, Md.) 2012, Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy., Hepatology (Baltimore, Md.).
[PubMed 22095909]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9P258
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
LF383924 - JP 2014500723-A/191427: Polycomb-Associated Non-Coding RNAs. AL359612 - Homo sapiens mRNA; cDNA DKFZp762N0610 (from clone DKFZp762N0610). AK126021 - Homo sapiens cDNA FLJ44033 fis, clone TESTI4028062. BC142946 - Homo sapiens regulator of chromosome condensation 2, mRNA (cDNA clone IMAGE:8860329), partial cds. AB040903 - Homo sapiens KIAA1470 mRNA for KIAA1470 protein. AJ421269 - Homo sapiens mRNA for RCC1-like protein (TD-60 gene). JD565843 - Sequence 546867 from Patent EP1572962. LF357196 - JP 2014500723-A/164699: Polycomb-Associated Non-Coding RNAs. JD508549 - Sequence 489573 from Patent EP1572962. JD342571 - Sequence 323595 from Patent EP1572962. DQ589188 - Homo sapiens piRNA piR-56300, complete sequence. JD071510 - Sequence 52534 from Patent EP1572962. JD173378 - Sequence 154402 from Patent EP1572962. JD394189 - Sequence 375213 from Patent EP1572962. JD154431 - Sequence 135455 from Patent EP1572962. JD438347 - Sequence 419371 from Patent EP1572962. JD326394 - Sequence 307418 from Patent EP1572962. BC004933 - Homo sapiens regulator of chromosome condensation 2, mRNA (cDNA clone IMAGE:3531803), partial cds. AK026005 - Homo sapiens cDNA: FLJ22352 fis, clone HRC06328. JD173871 - Sequence 154895 from Patent EP1572962. LF357195 - JP 2014500723-A/164698: Polycomb-Associated Non-Coding RNAs. JD544175 - Sequence 525199 from Patent EP1572962. JD426863 - Sequence 407887 from Patent EP1572962. JD095947 - Sequence 76971 from Patent EP1572962. LF357194 - JP 2014500723-A/164697: Polycomb-Associated Non-Coding RNAs. JD519942 - Sequence 500966 from Patent EP1572962. JD291333 - Sequence 272357 from Patent EP1572962. JD142711 - Sequence 123735 from Patent EP1572962. JD257371 - Sequence 238395 from Patent EP1572962. JD221021 - Sequence 202045 from Patent EP1572962. JD545287 - Sequence 526311 from Patent EP1572962. JD090124 - Sequence 71148 from Patent EP1572962. JD429142 - Sequence 410166 from Patent EP1572962. BC053908 - Homo sapiens regulator of chromosome condensation 2, mRNA (cDNA clone MGC:61610 IMAGE:6502476), complete cds. GQ901050 - Homo sapiens clone HEL-T-162 epididymis secretory sperm binding protein mRNA, complete cds. JD051537 - Sequence 32561 from Patent EP1572962. JD254298 - Sequence 235322 from Patent EP1572962. JD359819 - Sequence 340843 from Patent EP1572962. BC042141 - Homo sapiens regulator of chromosome condensation 2, mRNA (cDNA clone MGC:52285 IMAGE:5932549), complete cds. LF357193 - JP 2014500723-A/164696: Polycomb-Associated Non-Coding RNAs. JD142073 - Sequence 123097 from Patent EP1572962. JD051178 - Sequence 32202 from Patent EP1572962. AB384219 - Synthetic construct DNA, clone: pF1KSDA1470, Homo sapiens RCC2 gene for regulator of chromosome condensation 2, complete cds, without stop codon, in Flexi system. LF357192 - JP 2014500723-A/164695: Polycomb-Associated Non-Coding RNAs. LF357191 - JP 2014500723-A/164694: Polycomb-Associated Non-Coding RNAs. LF357190 - JP 2014500723-A/164693: Polycomb-Associated Non-Coding RNAs. JD186847 - Sequence 167871 from Patent EP1572962. MA619501 - JP 2018138019-A/191427: Polycomb-Associated Non-Coding RNAs. MA592773 - JP 2018138019-A/164699: Polycomb-Associated Non-Coding RNAs. MA592772 - JP 2018138019-A/164698: Polycomb-Associated Non-Coding RNAs. MA592771 - JP 2018138019-A/164697: Polycomb-Associated Non-Coding RNAs. MA592770 - JP 2018138019-A/164696: Polycomb-Associated Non-Coding RNAs. MA592769 - JP 2018138019-A/164695: Polycomb-Associated Non-Coding RNAs. MA592768 - JP 2018138019-A/164694: Polycomb-Associated Non-Coding RNAs. MA592767 - JP 2018138019-A/164693: Polycomb-Associated Non-Coding RNAs.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein Q9P258 (Reactome details) participates in the following event(s):
R-HSA-141409 Mad1 binds kinetochore R-HSA-375302 Kinetochore capture of astral microtubules R-HSA-5666129 CDC42:GTP recruits DIAPH2-2 to kinetochores R-HSA-5666169 Kinetochore capture of astral microtubules is positively regulated by CDC42:GTP:p-S196-DIAPH2-2 R-HSA-141431 MAD2 associates with the Mad1 kinetochore complex R-HSA-141439 Release of activated MAD2 from kinetochores R-HSA-2467811 Separation of sister chromatids R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin R-HSA-5666160 AURKB phosphorylates DIAPH2-2 at kinetochores R-HSA-141422 MAD2 converted to an inhibitory state via interaction with Mad1 R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres R-HSA-141444 Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal R-HSA-68877 Mitotic Prometaphase R-HSA-5663220 RHO GTPases Activate Formins R-HSA-2500257 Resolution of Sister Chromatid Cohesion R-HSA-2467813 Separation of Sister Chromatids R-HSA-141424 Amplification of signal from the kinetochores R-HSA-68886 M Phase R-HSA-195258 RHO GTPase Effectors R-HSA-68882 Mitotic Anaphase R-HSA-69618 Mitotic Spindle Checkpoint R-HSA-69278 Cell Cycle (Mitotic) R-HSA-194315 Signaling by Rho GTPases R-HSA-2555396 Mitotic Metaphase and Anaphase R-HSA-69620 Cell Cycle Checkpoints R-HSA-1640170 Cell Cycle R-HSA-162582 Signal Transduction
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