Sp8 MGI Mouse Gene Detail - MGI:2443471 - trans-acting transcription factor 8

Symbol

Sp8
Name

trans-acting transcription factor 8
Synonyms

D930049B17Rik, mBtd

Feature Type

protein coding gene
IDs

MGI:2443471
NCBI Gene: 320145
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr12:118810064-118816311 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 63.48 cM
Mapping Data

1 experiment

SNPs within 2kb

106 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2443471	protein coding gene	Chr12:118809968-118816313 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020188	protein coding gene	Chr12:121844614-121850853 (+)
A/J	MGP_AJ_G0020144	protein coding gene	Chr12:117317983-117324233 (+)
AKR/J	MGP_AKRJ_G0020119	protein coding gene	Chr12:120891920-120898161 (+)
BALB/cJ	MGP_BALBcJ_G0020127	protein coding gene	Chr12:117766918-117773157 (+)
C3H/HeJ	MGP_C3HHeJ_G0019931	protein coding gene	Chr12:121183199-121189450 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020574	protein coding gene	Chr12:125626555-125632792 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018186	protein coding gene	Chr12:113697963-113704192 (+)
CAST/EiJ	MGP_CASTEiJ_G0019471	protein coding gene	Chr12:115062624-115070575 (+)
CBA/J	MGP_CBAJ_G0019898	protein coding gene	Chr12:130578575-130584835 (+)
DBA/2J	MGP_DBA2J_G0020015	protein coding gene	Chr12:116722141-116728415 (+)
FVB/NJ	MGP_FVBNJ_G0020000	protein coding gene	Chr12:115393903-115400275 (+)
LP/J	MGP_LPJ_G0020089	protein coding gene	Chr12:121862728-121868974 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020036	protein coding gene	Chr12:133837798-133845131 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020603	protein coding gene	Chr12:120077457-120083688 (+)
PWK/PhJ	MGP_PWKPhJ_G0019233	protein coding gene	Chr12:111498070-111504394 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019038	protein coding gene	Chr12:113048627-113056557 (+)
WSB/EiJ	MGP_WSBEiJ_G0019529	protein coding gene	Chr12:121046272-121052515 (+)

Human Ortholog

SP8, Sp8 transcription factor

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SP8, Sp8 transcription factor
Synonyms

BTD
Links

HGNC:19196

NCBI Gene ID: 221833

neXtProt AC: NX_Q8IXZ3

UniProt: Q8IXZ3
Chr Location

7p21.1; chr7:20782279-20786886 (-) GRCh38

MGI Vertebrate Homology

Sp8 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: SP8
Gene Tree

Sp8

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References

4 with disease annotations

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Phenotype Summary

89 phenotypes from 5 alleles in 10 genetic backgrounds
22 phenotypes from multigenic genotypes
90 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

10
Endonuclease-mediated

2
Spontaneous

1
Targeted

7
Genomic Mutations

1 involving Sp8
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

29 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutant fetuses are characterized by truncated limbs, the lack of a tail, abnormal craniofacial development, and neural tube defects.

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All GO Annotations

12
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

939
Tissues

115
cDNA Data

14
Literature Summary

100

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

Xenbase sp8

ZFIN sp8a, sp8b

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All Sequences

52
RefSeq

18
UniProt

4
CCDS

CCDS26213.1

Ensembl

ENSMUSG00000048562 (Evidence)
NCBI Gene

320145

			Length	Strain/Species	Flank
genomic	ENSMUSG00000048562	Ensembl Gene Model \| MGI Sequence Detail	6248	C57BL/6J	± kb
transcript	ENSMUST00000063918	Ensembl \| MGI Sequence Detail	4478	Not Applicable
polypeptide	ENSMUSP00000065746	Ensembl \| MGI Sequence Detail	486	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000015446 transcription factor Sp8

(term hierarchy)
InterPro Domains

IPR036236 Zinc finger C2H2 superfamily

IPR013087 Zinc finger C2H2-type

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All nucleic 26

Genomic 2

cDNA 16

Primer pair 1

Other 7

Microarray probesets 2

Summaries

All 194

Developmental Gene Expression 100

Diseases 4

Gene Ontology 8

Phenotypes 90
Earliest

J:42265 Huang TT, et al., Superoxide-mediated cytotoxicity in superoxide dismutase-deficient fetal fibroblasts. Arch Biochem Biophys. 1997 Aug 15;344(2):424-32
Latest

J:354182 Sun M, et al., ERK signaling expands mammalian cortical radial glial cells and extends the neurogenic period. Proc Natl Acad Sci U S A. 2024 Mar 26;121(13):e2314802121

TSS for Sp8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr115563	Chr12:118810941-118810952 (+)	883 bp
Tssr115564	Chr12:118810962-118810973 (+)	904 bp
Tssr115565	Chr12:118811040-118811046 (+)	979 bp
Tssr115566	Chr12:118811283-118811303 (+)	1,229 bp
Tssr115567	Chr12:118811307-118811319 (+)	1,249 bp
Tssr115568	Chr12:118812123-118812147 (+)	2,071 bp
Tssr115569	Chr12:118814974-118814976 (+)	4,911 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/17/2024 MGI 6.24