2. Gene
  3. SP3 - Sp3 transcription factor Gene

SP3 - Sp3 transcription factor Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as SPR2

Gene ID: 6670 | Gene type: protein coding

About SP3

Cytogenetic location: 2q31.1 Genomic coordinates (GRCh38): 2:173,900,775-173,965,702 (from NCBI)

This gene has 11 transcripts (splice variants), 276 orthologues and 3 paralogues. Ubiquitous expression in bone marrow (RPKM 21.0), thyroid (RPKM 19.7) and 25 other tissues.

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 transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses the transcription of numerous genes. Transcript variants encoding different isoforms have been described for this gene, and one has been reported to initiate translation from a non-AUG (AUA) start codon. Additional isoforms, resulting from the use of alternate downstream translation initiation sites, have also been noted. A related pseudogene has been identified on chromosome 13. [provided by RefSeq, Feb 2010]

SP3 Products(3)

mRNA Protein Name
NM_001017371.5 NP_001017371.3 transcription factor Sp3 isoform 2
NM_001172712.1 NP_001166183.1 transcription factor Sp3 isoform 3
NM_003111.5 NP_003102.1 transcription factor Sp3 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
IDA: Inferred from direct assay
14979875 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: Inferred from physical interaction
17130167 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
10391891 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 GOA
Biological Process GO Annotation Evidence Reference Source
involved in negative regulation of DNA-templated transcription IMP
IMP: Inferred from mutant phenotype
20091743 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
12771217 GOA
involved in positive regulation of transcription by RNA polymerase II IGI
IGI: Inferred from genetic interaction
14979875 GOA
involved in positive regulation of transcription by RNA polymerase II IMP
IMP: Inferred from mutant phenotype
14979875 GOA
involved in regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
12560508 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SP3 Protein Structure

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (637 - 664)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (668 - 690)

  • 0
  • 200
  • 400
  • 600
  • 781 a.a.
Protein Preferred Names Protein Names

transcription factor Sp3

GC-binding transcription factor Sp3

Related Diseases

Diseases Alias
Basidiobolomycosis

Infection By Basidiobolus

Subcutaneous Mucoromycosis Due To Basidiobolus Ranarum
Wolfram Syndrome

Didmoad Syndrome

Didmoad

Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness

Wfs

Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness

Didmoadud

Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome

Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome
Vascular Disease

Vascular Diseases

Aneurysm

Spinal Cord Ischemia

Vascular Anomaly

Spinal Cord Vascular Diseases

Vascular Tissue Disease
Coffin-Siris Syndrome 1

Coffin-Siris Syndrome

Fifth Digit Syndrome

Css

CSS1

Mrd12

Mental Retardation, Autosomal Dominant 12

Hhid

Dwarfism-Onychodysplasia

Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features

Autosomal Dominant Mental Retardation 12

Short Stature-Onychodysplasia.

Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx

Mental Retardation With Hypoplastic Fifth Fingernails And Toenails

Short Stature-Onychodysplasia

Coffin-Siris Syndrome, Type 1

Mental Retardation, Autosomal Dominant, Type 12
Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (4)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-161794 SP3N Degrader / Unkown
HY-161795 SP3CHO / Unkown
HY-RS13606 SP3 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown
HY-125400 Zaragozic acid C / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta SP3 VGNC VGNC:77846
Rattus norvegicus SP3 RGD RGD:1583765
Bos taurus SP3 VGNC VGNC:35154
Felis catus SP3 VGNC VGNC:65587
Canis familiaris SP3 VGNC VGNC:53107
Mus musculus SP3 MGD MGI:1277166
Others SP3 NCBI