1. Gene
  2. SP4 - Sp4 transcription factor Gene

SP4 - Sp4 transcription factor Gene

Homo sapiens

Also known as HF1B; SPR-1

Gene ID: 6671 | Gene type: protein coding

About SP4

Cytogenetic location: 7p15.3 Genomic coordinates (GRCh38): 7:21,428,083-21,514,822 (from NCBI)

This gene has 5 transcripts (splice variants), 207 orthologues and 3 paralogues. Ubiquitous expression in ovary (RPKM 3.6), thyroid (RPKM 3.0) and 25 other tissues.

Summary

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 as does the transcription factor SP1, although its expression is much more restricted compared to that of SP1. This gene may be involved in bipolar disorder and schizophrenia. [provided by RefSeq, May 2016]

SP4 Products(3)

mRNA Protein Name
NM_001326542.2 NP_001313471.1 transcription factor Sp4 isoform 2
NM_001326543.2 NP_001313472.1 transcription factor Sp4 isoform 3
NM_003112.5 NP_003103.2 transcription factor Sp4 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence Reference Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
32296183 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
24722188 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
23332764 GOA
Biological Process GO Annotation Evidence Reference Source
acts upstream of or within positive effect regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
7559627 GOA
involved in regulation of transcription by RNA polymerase II 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

SP4 Protein Structure

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (663 - 690)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (694 - 716)

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

transcription factor Sp4

Related Diseases

Diseases Alias
Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Spastic Paraplegia 5a, Autosomal Recessive

SPG5A

Hereditary Spastic Paraplegia 5a

Autosomal Recessive Spastic Paraplegia 5a

Autosomal Recessive Spastic Paraplegia Type 5a

Spastic Paraplegia 5a

Spastic Paraplegia Type 5a

Spastic Paraplegia Type 5a, Recessive

Autosomal Recessive Spastic Paraplegia

Spastic Paraplegia-5a

Paraplegia, Spastic, Autosomal Recessive, Type 5a

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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
Felis catus SP4 VGNC VGNC:80723
Macaca mulatta SP4 VGNC VGNC:77847
Bos taurus SP4 VGNC VGNC:35155
Rattus norvegicus SP4 RGD RGD:3741
Mus musculus SP4 MGD MGI:107595
Canis familiaris SP4 VGNC VGNC:46687
Others SP4 NCBI