SP8 Sp8 transcription factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: SP8provided by HGNC
Official Full Name: Sp8 transcription factorprovided by HGNC
Primary source: HGNC:HGNC:19196
See related: Ensembl:ENSG00000164651 MIM:608306; AllianceGenome:HGNC:19196
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BTD
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]
Expression: Biased expression in prostate (RPKM 3.9) and skin (RPKM 0.2) See more
Orthologs: mouse all
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Genomic context

Location:: 7p21.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (20782279..20786886, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (20918318..20922938, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (20821899..20826505, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data suggest expression of transcription factor p8/SP8 is up-regulated in endoplasmic reticulum stress due to lipotoxicity; overexpression of SP8 up-regulates autophagy; autophagy due to lipotoxicity requires SP8; these reactions are mTOR-independent.
Title: The Transcription Factor p8 Regulates Autophagy in Response to Palmitic Acid Stress via a Mammalian Target of Rapamycin (mTOR)-independent Signaling Pathway.
Genetic variants on 3q21 and in the Sp8 transcription factor gene (SP8) as susceptibility loci for psychotic disorders.
Title: Genetic variants on 3q21 and in the Sp8 transcription factor gene (SP8) as susceptibility loci for psychotic disorders: a genetic association study.
This study provided that SP8 are associated with Bipolar I in the Han Chinese population
Title: Genome-wide association study of bipolar I disorder in the Han Chinese population.
Observational study of gene-disease association. (HuGE Navigator)
Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of bipolar I disorder in the Han Chinese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in dorsal/ventral pattern formation	IEA Inferred from Electronic Annotation more info
involved_in embryonic limb morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in proximal/distal pattern formation	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: transcription factor Sp8

Names: specificity protein 8

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029244.2 RefSeqGene

Range

5004..9611

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_182700.6 → NP_874359.2 transcription factor Sp8 isoform 1

See identical proteins and their annotated locations for NP_874359.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the shorter transcript but encodes the longer isoform (1).

Source sequence(s)

AC005060, AI632278, AY167047, KF511006

Consensus CDS

CCDS43555.1

UniProtKB/TrEMBL

A8K350

Related

ENSP00000408792.2, ENST00000418710.3

Conserved Domains (4) summary

COG5048
Location:389 → 456

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:379 → 398

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:434 → 456

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:420 → 443

zf-H2C2_2; Zinc-finger double domain
NM_198956.4 → NP_945194.1 transcription factor Sp8 isoform 2

See identical proteins and their annotated locations for NP_945194.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) includes an alternate internal exon and initiates translation from a downstream start codon, compared to variant 1. The resulting isoform (2) is shorter at the N-terminus, compared to isoform 1.

Source sequence(s)

AC005060, AI632278, AK290465, DA497089, KF511006

Consensus CDS

CCDS5372.1

UniProtKB/Swiss-Prot

Q7Z615, Q7Z616, Q8IXZ3, Q96MJ1

UniProtKB/TrEMBL

A8K350

Related

ENSP00000354482.4, ENST00000361443.4

Conserved Domains (4) summary

COG5048
Location:371 → 438

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:361 → 380

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:416 → 438

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:402 → 425

zf-H2C2_2; Zinc-finger double domain