GCFC2 (GC-rich sequence DNA-binding factor 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6936
Gene name Gene Name - the full gene name approved by the HGNC.
GC-rich sequence DNA-binding factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GCFC2
Synonyms (NCBI Gene) Gene synonyms aliases
C2orf3, DNABF, GCF, TCF9
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p12
Summary Summary of gene provided in NCBI Entrez Gene.
The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(53)
miRTarBase ID miRNA Experiments Reference
MIRT020556 hsa-miR-155-5p Reporter assay;Other 20584899
MIRT002735 hsa-miR-1-3p Microarray 15685193
MIRT038676 hsa-miR-10a-3p CLASH 23622248
MIRT562839 hsa-miR-3714 PAR-CLIP 20371350
MIRT562838 hsa-miR-1910-3p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0000245 Process Spliceosomal complex assembly IMP 24304693
GO:0000398 Process MRNA splicing, via spliceosome IBA 21873635
GO:0000398 Process MRNA splicing, via spliceosome TAS
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 24304693, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
189901 1317 ENSG00000005436
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P16383
Protein name Intron Large complex component GCFC2 (GC-rich sequence DNA-binding factor) (GC-rich sequence DNA-binding factor 2) (Transcription factor 9) (TCF-9)
Protein function Involved in pre-mRNA splicing through regulating spliceosome C complex formation (PubMed:24304693). May play a role during late-stage splicing events and turnover of excised introns (PubMed:24304693).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07842 GCFC 467 → 684 GC-rich sequence DNA-binding factor-like protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed in tissues and cell lines.
Sequence 
MAHRPKRTFRQRAADSSDSDGAEESPAEPGAPRELPVPGSAEEEPPSGGGRAQVAGLPHR
VRGPRGRGRVWASSRRATKAAPRADEGSESRTLDVSTDEEDKIHHSSESKDDQGLSSDSS
SSLGEKELSSTVKIPDAAFIQAARRKRELARAQDDYISLDVQHTSSISGMKRESEDDPES
EPDDHEKRIPFTLRPQTLRQRMAEESISRNEETSEESQEDEKQDTWEQQQMRKAVKIIEE
RDIDLSCGNGSSKVKKFDTSISFPPVNLEIIKKQLNTRLTLLQETHRSHLREYEKYVQDV
KSSKSTIQNLESSSNQALNCKFYKSMKIYVENLIDCLNEKIINIQEIESSMHALLLKQAM
TFMKRRQDELKHESTYLQQLSRKDETSTSGNFSVDEKTQWILEEIESRRTKRRQARVLSG
NCNHQEGTSSDDELPSAEMIDFQKSQGDILQKQKKVFEEVQDDFCNIQNILLKFQQWREK
FPDSYYEAFISLCIPKLLNPLIRVQLIDWNPLKLESTGLKEMPWFKSVEEFMDSSVEDSK
KESSSDKKVLSAIINKTIIPRLTDFVEFLWDPLSTSQTTSLITHCRVILEEHSTCENEVS
KSRQDLLKSIVSRMKKAVEDDVFIPLYPKSAVENKTSPHSKFQERQFWSGLKLFRNILLW
NGLLTDDTLQELGLGKLLNRYLIIALLNATPGPDVVKKCNQVAACLPEKWFENSAMRTSI
PQLENFIQFLLQSAHKLSRSEFRDEVEEIILILVKIKALNQAESFIGEHHLDHLKSLIKE
D
Sequence length 781
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    mRNA Splicing - Major Pathway
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Schizophrenia Schizophrenia GWAS
Brain atrophy Brain atrophy GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Restless Legs Syndrome Restless Legs Syndrome GWAS
Show/Hide Text Mining Associations (2)
Associations from Text Mining
Disease Name Relationship Type References
Dyslexia Associate 20846247, 23209710, 24022301, 25877001
Immunoglobulin G4 Related Disease Associate 21457949