Gene Gene information from NCBI Gene database.
Entrez ID 6670
Gene name Sp3 transcription factor
Gene symbol SP3
Synonyms (NCBI Gene)
SPR2
Chromosome 2
Chromosome location 2q31.1
Summary This gene belongs to a family of Sp1 related genes that encode transcription factors that regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several
miRNA miRNA information provided by mirtarbase database.
296
miRTarBase ID miRNA Experiments Reference
MIRT002402 hsa-miR-27a-3p Western blot 18006846
MIRT006249 hsa-miR-223-3p Luciferase reporter assayWestern blot 22080513
MIRT022933 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT002402 hsa-miR-27a-3p Western blot;qRT-PCR 20382698
MIRT042140 hsa-miR-484 CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Transcription factor Regulation Reference
MYB Unknown 18342022
NF1 Unknown 18342022
NFYA Activation 16024108
SP1 Activation 16024108
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
56
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 14979875
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601804 11208 ENSG00000172845
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q02447
Protein name Transcription factor Sp3 (SPR-2)
Protein function Transcriptional factor that can act as an activator or repressor depending on isoform and/or post-translational modifications. Binds to GT and GC boxes promoter elements. Competes with SP1 for the GC-box promoters. Weak activator of transcriptio
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 621 645 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 651 675 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 681 703 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed.
Sequence
MTAPEKPVKQEEMAALDVDSGGGGGGGGGHGEYLQQQQQHGNGAVAAAAAAQDTQPSPLA
LLAATCSKIGPPSPGDDEEEAAAAAGAPAAAGATGDLASAQLGGAPNRWEVLSATPTTIK
DEAGNLVQIPSAATSSGQYVLPLQNLQNQQIFSVAPGSDSSNGTVSSVQYQVIPQIQSAD
GQQVQIGFTGSSDNGGINQESSQIQIIPGSNQTLLASGTPSANIQNLIPQTGQVQVQGVA
IGGSSFPGQTQVVANVPLGLPGNITFVPINSVDLDSLGLSGSSQTMTAGINADGHLINTG
QAMDSSDNSERTGERVSPDINETNTDTDLFVPTSSSSQLPVTIDSTGILQQNTNSLTTSS
GQVHSSDLQGNYIQSPVSEETQAQNIQVSTAQPVVQHLQLQESQQPTSQAQIVQGITPQT
IHGVQASGQNISQQALQNLQLQLNPGTFLIQAQTVTPSGQVTWQTFQVQGVQNLQNLQIQ
NTAAQQITLTPVQTLTLGQVAAGGAFTSTPVSLSTGQLPNLQTVTVNSIDSAGIQLHPGE
NADSPADIRIKEEEPDPEEWQLSGDSTLNTNDLTHLRVQVVDEEGDQQHQEGKRLRRVAC
TCPNCKEGGGRGTNLGKKKQHICHIPGCGKVYGKTSHLRAHLRWHSGERPFVCNWMYCGK
RFTRSDELQRHRRTH
TGEKKFVCPECSKRFMRSDHLAKHIKTHQNKKGIHSSSTVLASVE
AARDDTLITAGGTTLILANIQQGSVSGIGTVNTSATSNQDILTNTEIPLQLVTVSGNETM
E
Sequence length 781
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    SUMOylation of transcription factors
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIAC EMBOLISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOEMBOLIC STROKE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Astrocytoma Astrocytoma Pubtator 26689994 Associate
★☆☆☆☆
Found in Text Mining only
Bladder Neoplasm Bladder Neoplasm LHGDN 18593936
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 12176973, 12733991, 12837748, 15987735, 17511886 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 26317792 Associate
★☆☆☆☆
Found in Text Mining only
Chronic Obstructive Airway Disease Chronic Obstructive Pulmonary Disease BEFREE 22140090
★☆☆☆☆
Found in Text Mining only
Colonic Diseases Colonic disease Pubtator 21156786 Associate
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 26807725 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 11027677, 20068171, 21156786, 21919647, 23194063, 24948597, 37786278 Associate
★☆☆☆☆
Found in Text Mining only
Congenital myasthenic syndrome ib Congenital myasthenic syndrome Pubtator 12393509 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 29207083 Associate
★☆☆☆☆
Found in Text Mining only