1. Gene
  2. SP6 - Sp6 transcription factor Gene

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

SP6 Protein Structure

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (270 - 297)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (301 - 323)

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  • 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

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