Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
221833
Gene name Gene Name - the full gene name approved by the HGNC.
Sp8 transcription factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SP8
Synonyms (NCBI Gene) Gene synonyms aliases
BTD
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 201
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT444751 hsa-miR-4453 PAR-CLIP 22100165
MIRT444750 hsa-miR-4538 PAR-CLIP 22100165
MIRT444749 hsa-miR-208a-5p PAR-CLIP 22100165
MIRT444748 hsa-miR-208b-5p PAR-CLIP 22100165
MIRT444747 hsa-miR-6790-3p PAR-CLIP 22100165
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608306 19196 ENSG00000164651
Protein
UniProt ID Q8IXZ3
Protein name Transcription factor Sp8 (Specificity protein 8)
Protein function Transcription factor which plays a key role in limb development. Positively regulates FGF8 expression in the apical ectodermal ridge (AER) and contributes to limb outgrowth in embryos (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 356 380 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 386 410 Zinc finger, C2H2 type Domain
PF13894 zf-C2H2_4 416 439 Domain
Sequence
MLAATCNKIGSPSPSPSSLSDSSSSFGKGFHPWKRSSSSSSASCNVVGSSLSSFGVSGAS
RNGGSSSAAAAAAAAAAAAAALVSDSFSCGGSPGSSAFSLTSSSAAAAAAAAAAAASSSP
FANDYSVFQAPGVSGGSGGGGGGGGGGSSAHSQDGSHQPVFISKVHTSVDGLQGIYPRVG
MAHPYESWFKPSHPGLGAAGEVGSAGASSWWDVGAGWIDVQNPNSAAALPGSLHPAAGGL
QTSLHSPLGGYNSDYSGLSHSAFSSGASSHLLSPAGQHLMDGFKPVLPGSYPDSAPSPLA
GAGGSMLSAGPSAPLGGSPRSSARRYSGRATCDCPNCQEAERLGPAGASLRRKGLHSCHI
PGCGKVYGKTSHLKAHLRWH
TGERPFVCNWLFCGKRFTRSDELQRHLRTHTGEKRFACPV
CNKRFMRSDHLSKHVKTHS
GGGGGGGSAGSGSGGKKGSDTDSEHSAAGSPPCHSPELLQP
PEPGHRNGLE
Sequence length 490
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Bipolar Disorder Bipolar Disorder GWAS
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Bipolar Disorder Associate 23967141
Cleft Lip Associate 19137569
Glycosuria Renal Associate 34338422
Parkinson Disease Associate 33319795
Psychotic Disorders Associate 23967141