Sp6 MGI Mouse Gene Detail - MGI:1932575 - trans-acting transcription factor 6

Symbol

Sp6
Name

trans-acting transcription factor 6
Synonyms

1110025J03Rik, Epfn, epiprofin, Klf14

Feature Type

protein coding gene
IDs

MGI:1932575
NCBI Gene: 83395
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr11:96904395-96915565 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 60.51 cM
Mapping Data

2 experiments

SNPs within 2kb

265 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1932575	protein coding gene	Chr11:96904220-96915565 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019019	protein coding gene	Chr11:99389816-99402520 (+)
A/J	MGP_AJ_G0018987	protein coding gene	Chr11:95321333-95333575 (+)
AKR/J	MGP_AKRJ_G0018957	protein coding gene	Chr11:98278145-98289653 (+)
BALB/cJ	MGP_BALBcJ_G0018960	protein coding gene	Chr11:95809663-95821655 (+)
C3H/HeJ	MGP_C3HHeJ_G0018774	protein coding gene	Chr11:98389138-98400237 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0019412	protein coding gene	Chr11:102473705-102486636 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017043	protein coding gene	Chr11:92784823-92795871 (+)
CAST/EiJ	MGP_CASTEiJ_G0018327	protein coding gene	Chr11:99240584-99255382 (+)
CBA/J	MGP_CBAJ_G0018745	protein coding gene	Chr11:106681046-106695085 (+)
DBA/2J	MGP_DBA2J_G0018853	protein coding gene	Chr11:94872310-94884712 (+)
FVB/NJ	MGP_FVBNJ_G0018842	protein coding gene	Chr11:94350491-94361694 (+)
LP/J	MGP_LPJ_G0018923	protein coding gene	Chr11:99917448-99930837 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018869	protein coding gene	Chr11:106604695-106617206 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0019452	protein coding gene	Chr11:98571235-98584390 (+)
PWK/PhJ	MGP_PWKPhJ_G0018099	protein coding gene	Chr11:95844526-95855839 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017889	protein coding gene	Chr11:98296120-98307097 (+)
WSB/EiJ	MGP_WSBEiJ_G0018377	protein coding gene	Chr11:98477865-98490152 (+)

Human Ortholog

SP6, Sp6 transcription factor

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SP6, Sp6 transcription factor
Synonyms

AI1K, EPFN, EPIPROFIN, KLF14
Links

HGNC:14530

NCBI Gene ID: 80320

neXtProt AC: NX_Q3SY56

UniProt: Q3SY56
Chr Location

17q21.32; chr17:47844908-47876311 (-) GRCh38

MGI Vertebrate Homology

Sp6 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SP6
Gene Tree

Sp6

Diseases

1 with human SP6 associations

				Human Disease	Mouse Models
				amelogenesis imperfecta type 1K IDs amelogenesis imperfecta type 1K DOID:0060945 OMIM:620104 ORDO:88661

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

42 phenotypes from 3 alleles in 3 genetic backgrounds
3 images
17 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

8
Gene trapped

2
Targeted

6
Genomic Mutations

1 involving Sp6
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

18 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a disruption at this locus display impaired skin, hair follicle, tooth and lung development as well as limb abnormalities and partial postnatal lethality.

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All GO Annotations

16
GO References

10

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	non-membrane-bounded 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

866
Tissues

123
cDNA Data

13
Literature Summary

21

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

49
RefSeq

4
UniProt

2
CCDS

CCDS25309.1

Ensembl

ENSMUSG00000038560 (Evidence)
NCBI Gene

83395

			Length	Strain/Species	Flank
genomic	83395	NCBI Gene Model \| MGI Sequence Detail	11171	C57BL/6J	± kb
transcript	NM_001363230	RefSeq \| MGI Sequence Detail	3620	C57BL/6
polypeptide	Q9ESX2	UniProt \| EBI \| MGI Sequence Detail	376	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000015444 transcription factor Sp6

(term hierarchy)
InterPro Domains

IPR036236 Zinc finger C2H2 superfamily

IPR013087 Zinc finger C2H2-type

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All nucleic 21

cDNA 13

Primer pair 4

Other 4

Microarray probesets 6

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MGI:1915872, MGI:2144036, MGI:2144231

Summaries

All 64

Developmental Gene Expression 21

Gene Ontology 10

Phenotypes 17
Earliest

J:56548 Zheng B, et al., Engineering a mouse balancer chromosome. Nat Genet. 1999 Aug;22(4):375-8
Latest

J:327901 Ye Q, et al., Understanding the development of oral epithelial organs through single cell transcriptomic analysis. Development. 2022 Aug 15;149(16):dev200539

TSS for Sp6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr104591	Chr11:96909584-96909591 (+)	5,193 bp
Tssr104592	Chr11:96909645-96909653 (+)	5,254 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)
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