1. Gene
  2. SP8 - Sp8 transcription factor Gene

SP8 - Sp8 transcription factor Gene

Homo sapiens

Also known as BTD

Gene ID: 221833 | Gene type: protein coding

About SP8

Cytogenetic location: 7p21.1 Genomic coordinates (GRCh38): 7:20,782,279-20,786,886 (from NCBI)

This gene has 2 transcripts (splice variants), 173 orthologues and 22 paralogues. Biased expression in prostate (RPKM 3.9) and skin (RPKM 0.2).

Summary

The protein encoded by this gene is an SP family transcription factor that in mouse has been shown to be essential for proper limb development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]

SP8 Products(2)

mRNA Protein Name
NM_182700.6 NP_874359.2 transcription factor Sp8 isoform 1
NM_198956.4 NP_945194.1 transcription factor Sp8 isoform 2
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables sequence-specific double-stranded DNA binding IDA
IDA: Inferred from direct assay
28473536 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

SP8 Protein Structure

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (372 - 399)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (403 - 425)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 490 a.a.
Protein Preferred Names Protein Names

transcription factor Sp8

specificity protein 8

Related Diseases

Diseases Alias
Deafness, Autosomal Recessive 110

DFNB110

Autosomal Recessive Nonsyndromic Deafness 110

Autosomal Recessive Deafness 110

Deafness, Autosomal Recessive, 110

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
Bos taurus SP8 VGNC VGNC:35158
Macaca mulatta SP8 VGNC VGNC:77964
Mus musculus SP8 MGD MGI:2443471
Felis catus SP8 VGNC VGNC:102707
Rattus norvegicus SP8 RGD RGD:1307619
Others SP8 NCBI