Gene
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.
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.
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 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0005515 Function Protein binding IPI 24722188, 25416956, 26871637, 32296183
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600540 11209 ENSG00000105866
Protein
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
TSHLRAHLRWH
TGERPFICNWMFCGKRFTRSDELQRHRRTHTGEKRFECPECSKRFMRSD
HLSKHVKTHQ
NKKGGGTALAIVTSGELDSSVTEVLGSPRIVTVAAISQDSNPATPNVSTN
MEEF
Sequence length 784
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Lymphoblastic leukemia Precursor Cell Lymphoblastic Leukemia Lymphoma rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699
View all (13 more)
29348612
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
28991256, 19401786, 26198764, 30285260
Unknown
Disease term Disease name Evidence References Source
Mental depression Major Depressive Disorder 20038947 ClinVar
Mental Depression Mental Depression GWAS
Bipolar Disorder Bipolar Disorder GWAS
Neuroticism Neuroticism GWAS
Associations from Text Mining
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