Grhl3 MGI Mouse Gene Detail - MGI:2655333 - grainyhead like transcription factor 3

Symbol

Grhl3
Name

grainyhead like transcription factor 3
Synonyms

ct, Get1, nmf231, Som

Feature Type

protein coding gene
IDs

MGI:2655333
NCBI Gene: 230824
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr4:135269199-135300941 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 67.76 cM
Mapping Data

5 experiments

SNPs within 2kb

241 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2655333	protein coding gene	Chr4:135269199-135300943 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0028946	protein coding gene	Chr4:137985516-138017228 (-)
A/J	MGP_AJ_G0028905	protein coding gene	Chr4:132154255-132185955 (-)
AKR/J	MGP_AKRJ_G0028857	protein coding gene	Chr4:135964197-135995934 (-)
BALB/cJ	MGP_BALBcJ_G0028929	protein coding gene	Chr4:132814292-132847181 (-)
C3H/HeJ	MGP_C3HHeJ_G0028643	protein coding gene	Chr4:136244335-136276060 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0029370	protein coding gene	Chr4:142911592-142947672 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0026641	protein coding gene	Chr4:125211625-125243237 (-)
CAST/EiJ	MGP_CASTEiJ_G0028075	protein coding gene	Chr4:134364955-134402014 (-)
CBA/J	MGP_CBAJ_G0028608	protein coding gene	Chr4:146817679-146849480 (-)
DBA/2J	MGP_DBA2J_G0028757	protein coding gene	Chr4:132572082-132603921 (-)
FVB/NJ	MGP_FVBNJ_G0028724	protein coding gene	Chr4:131493162-131524830 (-)
LP/J	MGP_LPJ_G0028856	protein coding gene	Chr4:138089383-138121130 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0028750	protein coding gene	Chr4:151126803-151159407 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0029408	protein coding gene	Chr4:136407396-136439334 (-)
PWK/PhJ	MGP_PWKPhJ_G0027795	protein coding gene	Chr4:129344079-129376026 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0027621	protein coding gene	Chr4:132233096-132265020 (-)
WSB/EiJ	MGP_WSBEiJ_G0028153	protein coding gene	Chr4:136585104-136618104 (-)

Human Ortholog

GRHL3, grainyhead like transcription factor 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GRHL3, grainyhead like transcription factor 3
Synonyms

SOM, TFCP2L4, VWS2
Links

HGNC:25839

NCBI Gene ID: 57822

neXtProt AC: NX_Q8TE85

UniProt: Q8TE85
Chr Location

1p36.11; chr1:24199558-24364482 (+) GRCh38

MGI Vertebrate Homology

Grhl3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: GRHL3
Gene Tree

Grhl3

Diseases

1 with Grhl3 mouse models

Human Disease

Mouse Models

Van der Woude syndrome

IDs

View 1 model

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

61 phenotypes from 9 alleles in 17 genetic backgrounds
42 phenotypes from multigenic genotypes
1 images
104 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

73
Chemically induced (ENU)

1
Chemically induced (other)

2
Endonuclease-mediated

1
Gene trapped

55
Spontaneous

2
Targeted

11
Transgenic

1
Genomic Mutations

3 involving Grhl3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

53 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mice homozygous for the variably penetrant curly-tail mutation (ct) show symptoms of cranial or spinal neural tube defects such as curly tails and/or spina bifida; homozygotes with more severe phenotypes display exencephaly and die in utero. Homozygous knockout mice show severe neural tube defects.

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All GO Annotations

41
GO References

17

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

1066
Tissues

226
cDNA Data

9
Literature Summary

51

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase grhl3

ZFIN grhl3

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All Sequences

30
RefSeq

4
UniProt

1
CCDS

CCDS38920.1

Ensembl

ENSMUSG00000037188 (Evidence)
NCBI Gene

230824

			Length	Strain/Species	Flank
genomic	ENSMUSG00000037188	Ensembl Gene Model \| MGI Sequence Detail	31743	C57BL/6J	± kb
transcript	ENSMUST00000105855	Ensembl \| MGI Sequence Detail	2789	Not Applicable
polypeptide	ENSMUSP00000101481	Ensembl \| MGI Sequence Detail	603	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000008231 grainyhead-like protein 3

(term hierarchy)
InterPro Domains

IPR007604 CP2 transcription factor

IPR040167 Transcription factor CP2-like

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All nucleic 27

cDNA 11

Primer pair 10

Other 6

Microarray probesets 4

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MGD-MRK-2211, MGI:2140331, MGI:88550

Summaries

All 161

Developmental Gene Expression 51

Diseases 1

Gene Ontology 17

Phenotypes 104
Earliest

J:264 Gruneberg H, Genetical studies on the skeleton of the mouse. VIII. Curly-tail. J Genet. 1954;52(1):52-67
Latest

J:341642 Schwartz B, et al., ZNF750 Regulates Skin Barrier Function by Driving Cornified Envelope and Lipid Processing Pathways. J Invest Dermatol. 2023 Sep 3;

TSS for Grhl3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr43997	Chr4:135300934-135300954 (-)	-3 bp
Tssr43996	Chr4:135300843-135300863 (-)	88 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 04/16/2024 MGI 6.23