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

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 6936
Gene name GC-rich sequence DNA-binding factor 2
Gene symbol GCFC2
Synonyms (NCBI Gene)
C2orf3DNABFGCFTCF9
Chromosome 2
Chromosome location 2p12
Summary 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.
53
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0000245 Process Spliceosomal complex assembly IMP 24304693
GO:0000398 Process MRNA splicing, via spliceosome IBA
GO:0000398 Process MRNA splicing, via spliceosome IEA
GO:0003677 Function DNA binding IEA
GO:0005515 Function Protein binding IPI 24304693, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
189901 1317 ENSG00000005436
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (8)
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
MAJOR DEPRESSIVE DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OCULAR HYPERTENSION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (15)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Carcinoma BEFREE 1370479
★★★★★
★☆☆☆☆
Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia Lymphoblastic Leukemia BEFREE 20189245
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic Periodontitis Periodontitis BEFREE 29589156, 29641752
★★★★★
★☆☆☆☆
Found in Text Mining only
Developmental reading disorder Developmental dyslexia BEFREE 23954868, 25877001
★★★★★
★☆☆☆☆
Found in Text Mining only
Dyslexia Dyslexia BEFREE 17309879
★★★★★
★☆☆☆☆
Found in Text Mining only
Dyslexia Dyslexia LHGDN 17309879
★★★★★
★☆☆☆☆
Found in Text Mining only
Dyslexia Dyslexia Pubtator 20846247, 23209710, 24022301, 25877001 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Gastric Adenocarcinoma Gastric Cancer BEFREE 30619779
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★★★★★
★☆☆☆☆
Found in Text Mining only
Multiple Myeloma Multiple myeloma BEFREE 1370479
★★★★★
★☆☆☆☆
Found in Text Mining only