GRHL2 grainyhead like transcription factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GRHL2provided by HGNC
Official Full Name: grainyhead like transcription factor 2provided by HGNC
Primary source: HGNC:HGNC:2799
See related: Ensembl:ENSG00000083307 MIM:608576; AllianceGenome:HGNC:2799
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BOM; ECTDS; PPCD4; DFNA28; TFCP2L3
Summary: The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009]
Expression: Broad expression in skin (RPKM 14.0), prostate (RPKM 13.5) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q22.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (101492439..101681200)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (102618002..102807085)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (102504667..102681954)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Enhancing Transcriptional Reprogramming of Mesenchymal Glioblastoma with Grainyhead-like 2 and HDAC Inhibitors Leads to Apoptosis and Cell-Cycle Dysregulation.
Title: Enhancing Transcriptional Reprogramming of Mesenchymal Glioblastoma with Grainyhead-like 2 and HDAC Inhibitors Leads to Apoptosis and Cell-Cycle Dysregulation.
GRHL2-controlled gene expression networks in luminal breast cancer.
Title: GRHL2-controlled gene expression networks in luminal breast cancer.
Correlation analysis between CD133, Klk3 and grhl2 expression and tumor characteristics in prostate cancer.
Title: Correlation analysis between CD133, Klk3 and grhl2 expression and tumor characteristics in prostate cancer.
Hypermethylation of the GRHL2 promoter region is associated with ovarian endometriosis.
Title: Hypermethylation of the GRHL2 promoter region is associated with ovarian endometriosis.
Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature.
Title: Novel GRHL2 Gene Variant Associated with Hearing Loss: A Case Report and Review of the Literature.
GRHL2 induces liver fibrosis and intestinal mucosal barrier dysfunction in non-alcoholic fatty liver disease via microRNA-200 and the MAPK pathway.
Title: GRHL2 induces liver fibrosis and intestinal mucosal barrier dysfunction in non-alcoholic fatty liver disease via microRNA-200 and the MAPK pathway.
Exposure of human oral keratinocytes to Porphyromonas gingivalis or LPS led to rapid loss of endogenous GRHL2 and the junction proteins
Title: Porphyromonas gingivalis Impairs Oral Epithelial Barrier through Targeting GRHL2.
Rs3735715 polymorphism in GRHL2 gene may influence the susceptibility of noise-induced hearing loss
Title: Polymorphism in GRHL2 gene may contribute to noise-induced hearing loss susceptibility: a meta-analysis.
demonstrate that epithelial genes are subject to epigenetic control during intermediate phases of epithelial-mesenchymal transition/MET involving GRHL2
Title: The role of GRHL2 and epigenetic remodeling in epithelial-mesenchymal plasticity in ovarian cancer cells.
Study found Grhl2 highly expressed in placentas of patients with pre-eclampsia. Furthermore, upregulation of Grhl2 by circ-TNRC18-induced inhibition of miR-762 led to trophoblast cell migration and epithelial-mesenchymal transition.
Title: CircTRNC18 inhibits trophoblast cell migration and epithelial-mesenchymal transition by regulating miR-762/Grhl2 pathway in pre-eclampsia.

Submit: New GeneRIF Correction See all GeneRIFs (62)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal dominant nonsyndromic hearing loss 28 MedGen: C1837640 OMIM: 608641 GeneReviews: Genetic Hearing Loss Overview	Compare labs
Corneal dystrophy, posterior polymorphous, 4 MedGen: C4747961 OMIM: 618031 GeneReviews: Not available	Compare labs
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome MedGen: C4014987 OMIM: 616029 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study (GWAS) for bronchopulmonary dysplasia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36161 (e-PCR)
- UniSTS:65903

RH123420 (e-PCR)
- UniSTS:135795

WI-11745 (e-PCR)
- UniSTS:82820

RH65468 (e-PCR)
- UniSTS:46301

Clone Names

FLJ11172, FLJ13782, MGC149294, MGC149295

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables intronic transcription regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in anterior neural tube closure	IEA Inferred from Electronic Annotation more info
involved_in bicellular tight junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in brain development	IBA Inferred from Biological aspect of Ancestor more info
involved_in camera-type eye development	IEA Inferred from Electronic Annotation more info
involved_in cardiac ventricle morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic cranial skeleton morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in embryonic digit morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cell morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in epithelial cell morphogenesis involved in placental branching	IEA Inferred from Electronic Annotation more info
involved_in epithelium migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in face development	IEA Inferred from Electronic Annotation more info
involved_in keratinocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in lung epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in lung lobe morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in neural tube closure	ISS Inferred from Sequence or Structural Similarity more info
involved_in neural tube development	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of telomerase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: grainyhead-like protein 2 homolog

Names: brother of mammalian grainyhead; brother-of-MGR; grainyhead-like 2; transcription factor CP2-like 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011971.3 RefSeqGene

Range

5002..182289

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001330593.2 → NP_001317522.1 grainyhead-like protein 2 homolog isoform 2

Status: REVIEWED

Source sequence(s)

AK296817, AP000426, AP001207, BC069633, BX117477, DN916458

Consensus CDS

CCDS83312.1

UniProtKB/TrEMBL

A8K9Y8

Related

ENSP00000379260.1, ENST00000395927.1

Conserved Domains (1) summary

pfam04516
Location:213 → 422

CP2; CP2 transcription factor
NM_024915.4 → NP_079191.2 grainyhead-like protein 2 homolog isoform 1

See identical proteins and their annotated locations for NP_079191.2

Status: REVIEWED

Source sequence(s)

AP000426, AP001207, BC069638

Consensus CDS

CCDS34931.1

UniProtKB/Swiss-Prot

A1L303, Q6ISB3, Q6NT03, Q9H8B8

UniProtKB/TrEMBL

A8K9Y8

Related

ENSP00000495564.1, ENST00000646743.1

Conserved Domains (1) summary

pfam04516
Location:229 → 438

CP2; CP2 transcription factor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

101492439..101681200

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011517307.4 → XP_011515609.1 grainyhead-like protein 2 homolog isoform X2

UniProtKB/TrEMBL

A8K9Y8

Conserved Domains (1) summary

pfam04516
Location:229 → 438

CP2; CP2 transcription factor
XM_011517306.4 → XP_011515608.1 grainyhead-like protein 2 homolog isoform X1

See identical proteins and their annotated locations for XP_011515608.1

UniProtKB/TrEMBL

A8K9Y8

Conserved Domains (1) summary

pfam04516
Location:213 → 422

CP2; CP2 transcription factor