Gene Gene information from NCBI Gene database.
Entrez ID 6671
Gene name Sp4 transcription factor
Gene symbol SP4
Synonyms (NCBI Gene)
HF1BSPR-1
Chromosome 7
Chromosome location 7p15.3
Summary The protein encoded by this gene is a transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded protein binds to the same sites in promoter CpG islands
miRNA miRNA information provided by mirtarbase database.
747
miRTarBase ID miRNA Experiments Reference
MIRT002401 hsa-miR-27a-3p Western blot 18006846
MIRT018082 hsa-miR-335-5p Microarray 18185580
MIRT026542 hsa-miR-192-5p Microarray 19074876
MIRT002401 hsa-miR-27a-3p Western blot;qRT-PCR 20382698
MIRT029593 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600540 11209 ENSG00000105866
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q02446
Protein name Transcription factor Sp4 (SPR-1)
Protein function Binds to GT and GC boxes promoters elements. Probable transcriptional activator.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 647 671 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 677 701 Zinc finger, C2H2 type Domain
PF13894 zf-C2H2_4 707 730 Domain
Tissue specificity TISSUE SPECIFICITY: Abundant in brain.
Sequence
MSDQKKEEEEEAAAAAAMATEGGKTSEPENNNKKPKTSGSQDSQPSPLALLAATCSKIGT
PGENQATGQQQIIIDPSQGLVQLQNQPQQLELVTTQLAGNAWQLVASTPPASKENNVSQP
ASSSSSSSSSNNGSASPTKTKSGNSSTPGQFQVIQVQNPSGSVQYQVIPQLQTVEGQQIQ
INPTSSSSLQDLQGQIQLISAGNNQAILTAANRTASGNILAQNLANQTVPVQIRPGVSIP
LQLQTLPGTQAQVVTTLPINIGGVTLALPVINNVAAGGGTGQVGQPAATADSGTSNGNQL
VSTPTNTTTSASTMPESPSSSTTCTTTASTSLTSSDTLVSSADTGQYASTSASSSERTIE
ESQTPAATESEAQSSSQLQPNGMQNAQDQSNSLQQVQIVGQPILQQIQIQQPQQQIIQAI
PPQSFQLQSGQTIQTIQQQPLQNVQLQAVNPTQVLIRAPTLTPSGQISWQTVQVQNIQSL
SNLQVQNAGLSQQLTITPVSSSGGTTLAQIAPVAVAGAPITLNTAQLASVPNLQTVSVAN
LGAAGVQVQGVPVTITSVAGQQQGQDGVKVQQATIAPVTVAVGGIANATIGAVSPDQLTQ
VHLQQGQQTSDQEVQPGKRLRRVACSCPNCREGEGRGSNEPGKKKQHICHIEGCGKVYGK
TSHLRAHLRWH
TGERPFICNWMFCGKRFTRSDELQRHRRTHTGEKRFECPECSKRFMRSD
HLSKHVKTHQ
NKKGGGTALAIVTSGELDSSVTEVLGSPRIVTVAAISQDSNPATPNVSTN
MEEF
Sequence length 784
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Monoclonal B-Cell Lymphocytosis Uncertain significance rs869025250 RCV000208557
SP4-related disorder Likely benign rs137934826 RCV003929477
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 21765466, 25803781
Carcinoma Hepatocellular Associate 26317792
Colonic Diseases Associate 21156786
Colorectal Neoplasms Associate 21156786, 21919647, 23194063
Cone Rod Dystrophies Associate 17356515
Dermatomyositis Associate 36996276
Disease Associate 17356515
Drug Hypersensitivity Associate 22438059
Esophageal Squamous Cell Carcinoma Associate 37768180
Glioblastoma Associate 31717924