Genomic DNA
Genomic size of DNA is about 50 kbp and consists of 17 exons. >
cDNA
GCF was originally discovered as a gene that encodes a transcriptional repressor that binds to a GC-rich sequence of the regulatory regions of human EGF-R gene (Kageyama and Pastan, 1989). However, a following study showed that GCF cDNA is an artificial fusion molecule between two different cDNAs; The 5 side of the cDNA encodes a highly basic region with the sequence-specific binding activity to the GC-rich region and the 3 side encodes most of C2orf3 protein (Takimoto et al., 1999). Reed et al. cloned a full length of the former cDNA that has transcriptional repressor activity with the sequence-specific DNA binding ability, and named this cDNA as GCF2. Following studies had confirmed the transcriptional repressive activity of GCF2 ( Shibutani M et al., 1998: Khachigian LM et al., 1999). The full length of C2orf3 cDNA was cloned and its sequence was determined. The cDNA is composed of 2661 nucleotides and encodes a protein of 781 amino acids. The encoded protein does not contain the highly basic region of the published GCF and has no sequence-specific DNA binding activity to the GC-rich sequence (Takimoto et al., 1999) ( GenBank : AB026911 )
cDNA sequence:
GGGCGGGCACTGAAGCTGCGGCTTGCGGTTCAGCGGGTTCTAGGGCGCCGGGCGCTCGGGCCTCGGCCATGGCTCACAGGCCGAAAAGGACTTTTCGGCA
GCGCGCGGCTGATTCCAGCGACAGCGATGGCGCCGAGGAGTCGCCTGCTGAGCCTGGGGCGCCGAGGGAACTTCCGGTCCCGGGTTCTGCGGAGGAAGAG
CCGCCCTCTGGAGGAGGCCGCGCGCAGGTGGCGGGACTGCCCCACCGGGTTCGGGGCCCTCGTGGCCGGGGCCGGGTCTGGGCGAGCTCCCGGCGTGCCA
CCAAAGCGGCTCCCCGCGCGGACGAAGGCTCAGAATCCAGAACCCTTGATGTGTCCACAGATGAAGAGGATAAAATACATCACTCCTCAGAAAGTAAGGA
TGATCAGGGTTTGTCTTCTGACAGTTCTAGCTCTCTTGGAGAAAAAGAACTTTCATCAACAGTTAAGATCCCAGATGCAGCTTTTATTCAGGCAGCCCGC
AGAAAACGTGAATTGGCCAGGGCCCAAGATGACTATATTTCTTTGGATGTACAACATACCTCCTCCATCTCTGGTATGAAGAGAGAGAGCGAAGATGACC
CTGAGAGTGAGCCTGATGACCATGAAAAGAGAATACCATTTACTCTAAGACCTCAAACACTTAGACAAAGGATGGCTGAGGAATCAATAAGCAGAAATGA
AGAAACAAGTGAAGAAAGTCAGGAAGATGAAAAGCAAGATACTTGGGAACAACAGCAAATGAGGAAAGCAGTTAAAATCATAGAGGAAAGAGACATAGAT
CTTTCCTGTGGCAGTGGATCTTCAAAAGTGAAGAAATTTGATACTTCCATTTCATTTCCGCCAGTAAATTTAGAAATTATAAAGAAGCAATTAAATACTA
GATTAACATTACTACAGGAAACTCACCGCTCACACCTGAGGGAGTATGAAAAATACGTACAAGATGTCAAAAGCTCAAAGAGTACCATCCAGAACCTAGA
GAGTTCATCAAATCAAGCTCTAAATTGTAAATTCTATAAAAGCATGAAAATTTATGTGGAAAATTTAATTGACTGCCTTAATGAAAAGATTATCAACATC
CAAGAAATAGAATCATCCATGCATGCACTCCTTTTAAAACAAGCTATGACCTTTATGAAACGCAGGCAAGATGAATTAAAACATGAATCAACGTATTTAC
AACAGTTATCACGCAAAGATGAGACATCCACAAGTGGAAACTTCTCAGTAGATGAAAAAACTCAGTGGATTTTAGAAGAGATTGAATCTCGAAGGACAAA
AAGAAGACAAGCAAGGGTGCTTTCTGGGAATTGTAACCATCAGGAAGGAACATCTAGTGATGATGAACTGCCTTCAGCAGAGATGATTGACTTCCAAAAA
AGCCAAGGTGACATTTTACAGAAACAGAAGAAAGTTTTTGAAGAAGTGCAAGATGATTTTTGTAACATCCAGAATATTTTGTTGAAATTTCAGCAATGGC
GAGAAAAGTTTCCTGACTCCTATTATGAAGCTTTCATTAGTTTATGCATACCAAAGCTTTTAAATCCCCTAATACGAGTTCAGTTGATTGATTGGAATCC
TCTTAAGTTGGAATCCACAGGTTTAAAAGAGATGCCATGGTTCAAATCTGTAGAAGAATTTATGGATAGCAGTGTAGAAGATTCAAAGAAGGAAAGTAGT
TCAGATAAAAAAGTCTTGTCTGCAATCATCAACAAAACAATTATTCCCCGACTTACAGACTTTGTAGAATTCCTTTGGGATCCTTTGTCAACCTCACAGA
CAACAAGTTTAATAACACATTGCAGAGTGATTCTTGAAGAACATTCCACTTGTGAAAATGAAGTTAGTAAAAGCAGACAGGATTTACTTAAATCCATTGT
TTCAAGAATGAAAAAGGCAGTAGAAGATGATGTTTTTATTCCTCTGTATCCAAAGAGTGCTGTAGAAAACAAAACATCACCTCATTCAAAGTTCCAAGAA
AGACAGTTCTGGTCAGGCCTAAAGCTCTTCCGCAATATTCTTCTTTGGAATGGACTCCTTACAGATGACACCTTGCAAGAACTAGGACTAGGGAAGCTGC
TAAATCGTTACCTTATTATAGCACTTCTCAATGCCACACCTGGGCCAGATGTGGTTAAAAAGTGCAACCAGGTAGCAGCATGTCTACCAGAAAAATGGTT
TGAAAATTCTGCCATGAGGACATCTATTCCACAGCTAGAAAACTTCATTCAGTTTTTATTGCAGTCTGCACATAAATTATCTAGAAGTGAATTCAGGGAT
GAAGTCGAAGAAATAATTCTTATTTTGGTGAAAATAAAAGCTTTGAATCAAGCAGAATCCTTCATAGGAGAGCATCACCTAGACCATCTTAAATCACTAA
TTAAAGAAGATTGAATAAACTTTATTGGAAAATGCTAAAATTTTAATATAGTTACACTCAGTTCCTTTGTTTGAGAAGAAGCTGGTGCCTCTCTCTTCTT
TATTCCCTGTAATAGAAGGTAGGATTTGAAAAAAAGCAGGACTCCACCTCTGTATTCCCCCGTGCTTTACCTTCTGGCATCATGAAAAGCTGCCATGATT
CTGTGGTGTTCTAAGGAATTAAATGCACTGGAGCTTTAAGAGCTCAACGTGTTTCCCTTTG

It is suggested that MRPL1 gene which is located closely to C2orf3 with head-head orientation and that they are co-regulated (Anthoni et al., 2007). There are several alternative spliced forms for mRNA expression: The initial report on a cDNA that encompass the full coding region is 2661bp in length (Takimoto et al., 1999).

Encodes 781 amino acids
Amino acid sequence: (Uniprot : P16383)
MAHRPKRTFRQRAADSSDSDGAEESPAEPGAPRELPVPGSAEEEPPSGGGRAQVAGLPHRVRGPRGRGRVWASSRRATKAAPRADEGSESRTLDVSTDEE
DKIHHSSESKDDQGLSSDSSSSLGEKELSSTVKIPDAAFIQAARRKRELARAQDDYISLDVQHTSSISGMKRESEDDPESEPDDHEKRIPFTLRPQTLRQ
RMAEESISRNEETSEESQEDEKQDTWEQQQMRKAVKIIEERDIDLSCGSGSSKVKKFDTSISFPPVNLEIIKKQLNTRLTLLQETHRSHLREYEKYVQDV
KSSKSTIQNLESSSNQALNCKFYKSMKIYVENLIDCLNEKIINIQEIESSMHALLLKQAMTFMKRRQDELKHESTYLQQLSRKDETSTSGNFSVDEKTQW
ILEEIESRRTKRRQARVLSGNCNHQEGTSSDDELPSAEMIDFQKSQGDILQKQKKVFEEVQDDFCNIQNILLKFQQWREKFPDSYYEAFISLCIPKLLNP
LIRVQLIDWNPLKLESTGLKEMPWFKSVEEFMDSSVEDSKKESSSDKKVLSAIINKTIIPRLTDFVEFLWDPLSTSQTTSLITHCRVILEEHSTCENEVS
KSRQDLLKSIVSRMKKAVEDDVFIPLYPKSAVENKTSPHSKFQERQFWSGLKLFRNILLWNGLLTDDTLQELGLGKLLNRYLIIALLNATPGPDVVKKCN
QVAACLPEKWFENSAMRTSIPQLENFIQFLLQSAHKLSRSEFRDEVEEIILILVKIKALNQAESFIGEHHLDHLKSLIKED

C2orf3 protein with molecular weight of 89 kD are observed in human cancer cell line, and localizes in nucleoplasm and nucleolus.

C2orf3 plays a role in pre-mRNA splicing, by forming a complex with DHX15 (hPrp43) and TFIP11 (Yoshimoto et al., 2014). As these proteins are present in post-splicing intron complex, C2orf3 protein may play a role in post-splicing turnover of mRNA. The study with and antibody specific to C2ofr3 protein showed that this protein is present nucleoplasm and nucleoli.
After splicing reaction, pre-mRNA releases intron RNA complex, which contains uridine-rich small nuclear RNAs (snRNAs; U1, U2, U4, U5 and U6) PRPF19complex, hnRNP proteins and TFIP11. A RNA helicase hPrp43 removes the several factors from the complex, leaving lariat RNA intron, which is then subject to linearization by a debranching enzyme DBR1 (Wen et al., 2008; Yoshimoto et al., 2009).C2orf3 protein was shown to form a complex with tuftelin-interacting protein (TFIP11) and hPrp43, which play a role in post-splicing turnover of mRNA. Through its amino terminal, TFIP11 binds to a RNA helicase hPrp43 that plays a role in the dissociation of snRNAs from a lariat intron in vitro. C2orf3 preferentially associates with lariat intron in the splicing reaction and C2orf3-deleted nuclear extracts showed a significant repression of splicing of pre-mRNA in vitro (Yoshimoto et al., 2014). The presence of C2orf3 protein in nucleoli suggest a potential role in rRNA processing/or nucleoli structure (Yoshimoto et al., 2014).