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

Grhl2 Gene Detail

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

Sequence Map

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

Mouse Genome Browser
Download
Sequence

130534 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 15, 14.84 cM, cytoband C
Mapping Data

2 experiments

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, 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

35 phenotypes from 6 alleles in 6 genetic backgrounds
10 phenotypes from multigenic genotypes
20 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

53
Chemically induced (ENU)

2
Chemically induced (other)

2
Gene trapped

47
Targeted

2
Genomic Mutations

2 involving Grhl2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

21 strains or lines available

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

48
GO References

11

External Resources

FuncBase

Molecular Function

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

Biological Process

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

523
Tissues

319
cDNA Data

42
Literature Summary

21

Images

Tissue x Stage Matrix

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

52
RefSeq

12
UniProt

6
CCDS

CCDS27434.1
UniGene

244612

			Length	Strain/Species	Flank
genomic	OTTMUSG00000030880	VEGA Gene Model \| MGI Sequence Detail	130534	C57BL/6J	± kb
transcript	OTTMUST00000076417	VEGA \| MGI Sequence Detail	4947	Not Applicable
polypeptide	OTTMUSP00000040224	VEGA \| MGI Sequence Detail	625	Not Applicable

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SNPs within 2kb

1209 from dbSNP Build 142

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UniProt

6 Sequences
Protein Ontology

PR:000008230 grainyhead-like protein 2

(term hierarchy)
InterPro Domains

IPR007604 CP2 transcription factor

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All nucleic 48

cDNA 45

Primer pair 2

Other 1

Microarray probesets 6

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MGI:1915242, MGI:5056362

Summaries

All 61

Developmental Gene Expression 21

Gene Ontology 11

Phenotypes 20
Earliest

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

J:242825 Fong KS, et al., A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure. Dis Model Mech. 2016 May 01;9(5):585-96

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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