SP6 - Sp6 transcription factor Gene

Homo sapiens

Also known as AI1K; EPFN; KLF14; EPIPROFIN

Gene ID: 80320 | Gene type: protein coding

About SP6

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:47,844,908-47,876,311 (from NCBI)

This gene has 2 transcripts (splice variants), 186 orthologues and 22 paralogues. Biased expression in placenta (RPKM 11.3), skin (RPKM 2.8) and 6 other tissues.

Summary

SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008]

SP6 Products(2)

mRNA	Protein	Name
NM_001258248.2	NP_001245177.1	transcription factor Sp6
NM_199262.3	NP_954871.1	transcription factor Sp6

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	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

SP6 Protein Structure

zf-H2C2_2

0
100
200
300
376 a.a.

Protein Preferred Names

Protein Names

transcription factor Sp6

Kruppel-like factor 14

Related Diseases

Diseases

Alias

Amelogenesis Imperfecta

Ai	Congenital Enamel Hypoplasia
Al - [Amelogenesis Imperfecta]

Hermansky-Pudlak Syndrome 6

HPS6	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Delta Storage Pool Disease	Hermansky-Pudlak Syndrome, Type 6
Platelet Storage Pool Deficiency	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Premenstrual Tension

Premenstrual Syndrome	Pmt - [Premenstrual Tension]
Premenstrual Tension Nos	Syndrome Of Menstruation

Brain Stem Infarction

Brain Stem Infarctions

Brainstem Infarction

Lesion Of Sciatic Nerve

Nerve Lesion Sciatic

Sciatic Neuropathy

Maturity-Onset Diabetes Of The Young

MODY	Maturity Onset Diabetes Mellitus In Young
Mason-Type Diabetes	Mason Type Diabetes
Maturity Onset Diabetes Of The Young	Mody Syndrome
Diabetes Of The Young, Maturity-Onset

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13609	SP6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-137635	Sp-6-Phe-cAMPS	Activator	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	SP6	VGNC	VGNC:65588
Canis familiaris	SP6	VGNC	VGNC:46689
Macaca mulatta	SP6	VGNC	VGNC:77922
Bos taurus	SP6	VGNC	VGNC:35156
Mus musculus	SP6	MGD	MGI:1932575
Rattus norvegicus	SP6	RGD	RGD:1306768
Others	SP6	NCBI

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