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

Gene ID: 79977, updated on 10-Oct-2024

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
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Genomic context

See GRHL2 in Genome Data Viewer
Location:
8q22.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (101492439..101681200)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (102618002..102807085)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (102504667..102681954)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986897 Neighboring gene long intergenic non-protein coding RNA 2845 Neighboring gene RNA, 7SL, cytoplasmic 563, pseudogene Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr8:102472256-102472756 Neighboring gene Sharpr-MPRA regulatory region 9085 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:102504685-102505213 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:102513194-102514170 Neighboring gene GRHL2 divergent transcript Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27730 Neighboring gene SAP domain containing ribonucleoprotein pseudogene Neighboring gene probable ribosome biogenesis protein RLP24 Neighboring gene Sharpr-MPRA regulatory region 9664 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:102655529-102656728 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:102659137-102659637 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:102668311-102669171 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27733 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr8:102762302-102763501 Neighboring gene neurocalcin delta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27735 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:102799260-102799806 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:102799807-102800353 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19433 Neighboring gene small nucleolar RNA U13 Neighboring gene PDCL3 pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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 
located_in 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

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)

NEW Try the new Transcript table

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

  1. NG_011971.3 RefSeqGene

    Range
    5002..182289
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330593.2NP_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:213422
    CP2; CP2 transcription factor
  2. NM_024915.4NP_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:229438
    CP2; CP2 transcription factor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    101492439..101681200
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A8K9Y8
    Conserved Domains (1) summary
    pfam04516
    Location:229438
    CP2; CP2 transcription factor
  2. XM_011517306.4XP_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:213422
    CP2; CP2 transcription factor

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    102618002..102807085
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054361285.1XP_054217260.1  grainyhead-like protein 2 homolog isoform X1

  2. XM_054361286.1XP_054217261.1  grainyhead-like protein 2 homolog isoform X2