SP4 (Sp4 transcription factor)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6671
Gene name Gene Name - the full gene name approved by the HGNC.
Sp4 transcription factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SP4
Synonyms (NCBI Gene) Gene synonyms aliases
HF1B, SPR-1
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p15.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
600540 11209 ENSG00000105866
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
TSHLRAHLRWHTGERPFICNWMFCGKRFTRSDELQRHRRTHTGEKRFECPECSKRFMRSD
HLSKHVKTHQNKKGGGTALAIVTSGELDSSVTEVLGSPRIVTVAAISQDSNPATPNVSTN
MEEF
Sequence length 784
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
B-Cell Lymphocytosis monoclonal b-cell lymphocytosis N/A N/A ClinVar
Bipolar Disorder Bipolar disorder, Bipolar I disorder N/A N/A GWAS
Insomnia Insomnia N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Show/Hide Text Mining Associations (26)
Associations from Text Mining Disease 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