Grhl2 MGI Mouse Gene Detail - MGI:2182543 - grainyhead like transcription factor 2

Symbol

Grhl2
Name

grainyhead like transcription factor 2
Synonyms

0610015A08Rik, BOM, clft3, grainyheadlike, Tcfcp2l3

Feature Type

protein coding gene
IDs

MGI:2182543
NCBI Gene: 252973
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr15:37233036-37363569 bp, + strand
From Ensembl annotation of GRCm38

View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 14.84 cM, cytoband C
Mapping Data

2 experiments

SNPs within 2kb

1209 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2182543	protein coding gene	Chr15:37232821-37363569 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0021801	protein coding gene	Chr15:35664970-35809050 (+)
A/J	MGP_AJ_G0021761	protein coding gene	Chr15:34310594-34445890 (+)
AKR/J	MGP_AKRJ_G0021741	protein coding gene	Chr15:35296973-35436796 (+)
BALB/cJ	MGP_BALBcJ_G0021768	protein coding gene	Chr15:34354378-34486013 (+)
C3H/HeJ	MGP_C3HHeJ_G0021542	protein coding gene	Chr15:35259244-35401043 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0022207	protein coding gene	Chr15:37065628-37221423 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0019744	protein coding gene	Chr15:32106514-32238701 (+)
CAST/EiJ	MGP_CASTEiJ_G0021059	protein coding gene	Chr15:35649299-35787278 (+)
CBA/J	MGP_CBAJ_G0021511	protein coding gene	Chr15:38239914-38394850 (+)
DBA/2J	MGP_DBA2J_G0021635	protein coding gene	Chr15:34150288-34282217 (+)
FVB/NJ	MGP_FVBNJ_G0021613	protein coding gene	Chr15:33553287-33686706 (+)
LP/J	MGP_LPJ_G0021705	protein coding gene	Chr15:35541945-35683881 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0021637	protein coding gene	Chr15:41299231-41444189 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0022230	protein coding gene	Chr15:35451016-35589335 (+)
PWK/PhJ	MGP_PWKPhJ_G0020803	protein coding gene	Chr15:34168274-34309507 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0020641	protein coding gene	Chr15:35142909-35276878 (+)
WSB/EiJ	MGP_WSBEiJ_G0021114	protein coding gene	Chr15:35405430-35542936 (+)

Human Ortholog

GRHL2, grainyhead like transcription factor 2

Vertebrate Orthologs

10

Human Ortholog

GRHL2, grainyhead like transcription factor 2
Orthology source: HomoloGene, HGNC
Synonyms

BOM, DFNA28, ECTDS, PPCD4, TFCP2L3
Links

HGNC:2799

NCBI Gene ID: 79977

neXtProt AC: NX_Q6ISB3

UniProt: Q6ISB3
Chr Location

8q22.3; chr8:101492440-101678105 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 32616
1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
HCOP

human homology predictions: GRHL2
Gene Tree

Grhl2

Diseases

1 with human GRHL2 associations

				Human Disease	Mouse Models
				autosomal dominant nonsyndromic deafness 28 IDs autosomal dominant nonsyndromic deafness 28 DOID:0110557 ICD10CM:H90.3 OMIM:608641

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

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Phenotype Summary

34 phenotypes from 6 alleles in 6 genetic backgrounds
10 phenotypes from multigenic genotypes
22 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	immune system	integument	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	neoplasm	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	vision/eye

Click cells to view annotations.

All Mutations and Alleles

54
Chemically induced (ENU)

2
Chemically induced (other)

2
Endonuclease-mediated

1
Gene trapped

47
Targeted

2
Genomic Mutations

2 involving Grhl2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

10 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null mutation display embryonic lethality during organogenesis with cranioschisis, facial cleft, impaired neural fold elevation, and an open posterior neuropore.

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All GO Annotations

54
GO References

13

External Resources

FuncBase

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 death	cell differentiation	cell population proliferation	cellular component organization	establishment of localization	homeostatic process	immune system process	lipid metabolic process	nucleic acid-templated transcription	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	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

586
Tissues

333
cDNA Data

43
Literature Summary

26

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase grhl2

ZFIN grhl2a, grhl2b

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Grhl2 interacts with 330 markers (Mir7-1, Mir7-2, Mir7b, ...) View All

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All Sequences

60
RefSeq

12
UniProt

6
CCDS

CCDS27434.1
UniGene

244612

Ensembl

ENSMUSG00000022286 (Evidence)
NCBI Gene

252973

			Length	Strain/Species	Flank
genomic	ENSMUSG00000022286	Ensembl Gene Model \| MGI Sequence Detail	130534	C57BL/6J	± kb
transcript	ENSMUST00000022895	Ensembl \| MGI Sequence Detail	4947	Not Applicable
polypeptide	ENSMUSP00000022895	Ensembl \| MGI Sequence Detail	625	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000008230 grainyhead-like protein 2

(term hierarchy)
InterPro Domains

IPR007604 CP2 transcription factor

IPR040167 Transcription factor CP2-like

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All nucleic 50

cDNA 46

Primer pair 3

Other 1

Microarray probesets 6

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MGI:1915242, MGI:5056362

Summaries

All 67

Developmental Gene Expression 26

Gene Ontology 13

Phenotypes 22
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

J:269325 De Castro SCP, et al., Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice. Hum Mol Genet. 2018 Dec 15;27(24):4218-4230

TSS for Grhl2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr131094	Chr15:37233041-37233073 (+)	21 bp
Tssr131095	Chr15:37233079-37233094 (+)	51 bp
Tssr131096	Chr15:37233286-37233306 (+)	260 bp
Tssr131097	Chr15:37233310-37233337 (+)	288 bp
Tssr131098	Chr15:37233369-37233398 (+)	348 bp
Tssr131100	Chr15:37318383-37318407 (+)	85,359 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 & Copyright Notice Send questions and comments to User Support.	last database update 06/18/2019 MGI 6.14