Gene Gene information from NCBI Gene database.
Entrez ID 7024
Gene name Transcription factor CP2
Gene symbol TFCP2
Synonyms (NCBI Gene)
LBP1CLSFLSF1DSEFTFCP2C
Chromosome 12
Chromosome location 12q13.12-q13.13
Summary This gene encodes a transcription factor that binds the alpha-globin promoter and activates transcription of the alpha-globin gene. The encoded protein regulates erythroid gene expression, plays a role in the transcriptional switch of globin gene promoter
miRNA miRNA information provided by mirtarbase database.
546
miRTarBase ID miRNA Experiments Reference
MIRT020695 hsa-miR-155-5p Proteomics 18668040
MIRT043398 hsa-miR-331-3p CLASH 23622248
MIRT542401 hsa-miR-329-3p HITS-CLIP 23313552
MIRT542400 hsa-miR-362-3p HITS-CLIP 23313552
MIRT542399 hsa-miR-603 HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
189889 11748 ENSG00000135457
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q12800
Protein name Alpha-globin transcription factor CP2 (SAA3 enhancer factor) (Transcription factor LSF)
Protein function Binds a variety of cellular and viral promoters including fibrinogen, alpha-globin, SV40 and HIV-1 promoters. Activation of the alpha-globin promoter in erythroid cells is via synergistic interaction with UBP1 (By similarity). Functions as part
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04516 CP2 44 260 CP2 transcription factor Family
PF18016 SAM_3 319 382 SAM domain (Sterile alpha motif) Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Expressed in brain, ovary, kidney, thymus, spleen, liver, adrenal, heart and lung (at protein level). {ECO:0000269|PubMed:10455131, ECO:0000269|PubMed:7828600, ECO:0000269|PubMed:8157699}.
Sequence
MAWALKLPLADEVIESGLVQDFDASLSGIGQELGAGAYSMSDVLALPIFKQEESSLPPDN
ENKILPFQYVLCAATSPAVKLHDETLTYLNQGQSYEIRMLDNRKLGELPEINGKLVKSIF
RVVFHDRRLQYTEHQQLEGWRWNRPGDRILDIDIPMSVGIIDPRANPTQLNTVEFLWDPA
KRTSVFIQVHCISTEFTMRKHGGEKGVPFRVQIDTFKENENGEYTEHLHSASCQIKVFKP
KGADRKQKTDREKMEKRTPH
EKEKYQPSYETTILTECSPWPEITYVNNSPSPGFNSSHSS
FSLGEGNGSPNHQPEPPPPVTDNLLPTTTPQEAQQWLHRNRFSTFTRLFTNFSGADLLKL
TRDDVIQICGPADGIRLFNALK
GRMVRPRLTIYVCQESLQLREQQQQQQQQQQKHEDGDS
NGTFFVYHAIYLEELTAVELTEKIAQLFSISPCQISQIYKQGPTGIHVLISDEMIQNFQE
EACFILDTMKAETNDSYHIILK
Sequence length 502
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PSORIASIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Acquired Immunodeficiency Syndrome Associate 10888618
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Associate 11283204, 16272261, 28286146
★☆☆☆☆
Found in Text Mining only
Calcinosis Cutis Stimulate 25609232
★☆☆☆☆
Found in Text Mining only
Carcinoma Associate 38168093
★☆☆☆☆
Found in Text Mining only
Carcinoma Basal Cell Associate 32631335
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 25609232, 32539694
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Stimulate 25337247
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 32539694, 33892791, 35710032, 36741376
★☆☆☆☆
Found in Text Mining only
Diabetes Gestational Associate 34116986
★☆☆☆☆
Found in Text Mining only
Endometriosis Associate 35072229
★☆☆☆☆
Found in Text Mining only