SP3 - Sp3 transcription factor Gene

Also Known as SPR2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6670

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
Molecular Function GO Annotation Evidence References 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 References 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

SP3 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SP3 Q02447 CIB3 Homo sapiens Q96Q77 32296183
Intra
SP3 Q02447 SPANXN2 Homo sapiens Q5MJ10 32296183
Intra
SP3 Q02447 LIN54 Homo sapiens Q6MZP7 32296183
Intra
SP3 Q02447 PHF21A Homo sapiens Q96BD5 32296183
Intra
SP3 Q02447 ESR1 Homo sapiens P03372 10816575
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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