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    Grhl2 grainyhead like transcription factor 2 [ Mus musculus (house mouse) ]

    Gene ID: 252973, updated on 9-Dec-2024

    Summary

    Official Symbol
    Grhl2provided by MGI
    Official Full Name
    grainyhead like transcription factor 2provided by MGI
    Primary source
    MGI:MGI:2182543
    See related
    Ensembl:ENSMUSG00000022286 AllianceGenome:MGI:2182543
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    BOM; clft3; Tcfcp2l3; 0610015A08Rik
    Summary
    Enables DNA-binding transcription factor activity; chromatin binding activity; and intronic transcription regulatory region sequence-specific DNA binding activity. Involved in several processes, including epithelial cell differentiation; neural tube closure; and positive regulation of transcription by RNA polymerase II. Acts upstream of or within several processes, including embryonic morphogenesis; face development; and lung lobe morphogenesis. Located in nucleus. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 28 and posterior polymorphous corneal dystrophy 4. Orthologous to human GRHL2 (grainyhead like transcription factor 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in genital fat pad adult (RPKM 7.3), bladder adult (RPKM 5.9) and 14 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Grhl2 in Genome Data Viewer
    Location:
    15 B3.1; 15 14.84 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 15 NC_000081.7 (37233065..37363813)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 15 NC_000081.6 (37232821..37363569)

    Chromosome 15 - NC_000081.7Genomic Context describing neighboring genes Neighboring gene lactate dehydrogenase A pseudogene Neighboring gene predicted gene, 41303 Neighboring gene STARR-seq mESC enhancer starr_38416 Neighboring gene predicted gene 16136 Neighboring gene STARR-seq mESC enhancer starr_38417 Neighboring gene STARR-seq mESC enhancer starr_38421 Neighboring gene STARR-seq mESC enhancer starr_38423 Neighboring gene RIKEN cDNA 4930447A16 gene Neighboring gene neurocalcin delta Neighboring gene predicted gene 15941 Neighboring gene nucleus accumbens-associated protein 1 pseudogene

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Chemically induced (ENU) (2)  1 citation
    • Endonuclease-mediated (3) 
    • Gene trapped (3) 
    • Targeted (3)  1 citation

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables DNA binding ISA
    Inferred from Sequence Alignment
    more info
    PubMed 
    enables DNA-binding transcription activator activity ISO
    Inferred from Sequence Orthology
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables DNA-binding transcription factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity ISA
    Inferred from Sequence Alignment
    more info
    PubMed 
    enables DNA-binding transcription factor binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables DNA-binding transcription factor binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables chromatin DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables chromatin DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables intronic transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific DNA binding ISO
    Inferred from Sequence Orthology
    more info
     
    enables sequence-specific DNA binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    acts_upstream_of_or_within anterior neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bicellular tight junction assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in bicellular tight junction assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in brain development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within brain development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within camera-type eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within cardiac ventricle morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cell adhesion ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cell junction assembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cell junction assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within embryonic cranial skeleton morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic digit morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within embryonic organ development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epidermis development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epithelial cell morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epithelial cell morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in epithelial cell morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within epithelial cell morphogenesis involved in placental branching IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in epithelium migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within face development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within in utero embryonic development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in keratinocyte differentiation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in keratinocyte differentiation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in lung epithelial cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within lung lobe morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neural tube closure IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in neural tube development IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within neural tube development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription 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 ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of DNA-templated transcription ISA
    Inferred from Sequence Alignment
    more info
    PubMed 
    acts_upstream_of_or_within regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    acts_upstream_of_or_within respiratory tube development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell-cell junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell-cell junction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    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 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
     
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    grainyhead-like protein 2 homolog
    Names
    brother of mammalian grainyhead
    grainyhead like 2
    grainyhead-like 2
    grainyheadlike
    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.

    mRNA and Protein(s)

    1. NM_026496.4NP_080772.2  grainyhead-like protein 2 homolog

      See identical proteins and their annotated locations for NP_080772.2

      Status: VALIDATED

      Source sequence(s)
      BC055035, BY018142, BY703140, CJ322576
      Consensus CDS
      CCDS27434.1
      UniProtKB/Swiss-Prot
      Q80UZ5, Q8K5C0
      Related
      ENSMUSP00000022895.9, ENSMUST00000022895.15
      Conserved Domains (1) summary
      pfam04516
      Location:229438
      CP2; CP2 transcription factor

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000081.7 Reference GRCm39 C57BL/6J

      Range
      37233065..37363813
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017316622.1XP_017172111.1  grainyhead-like protein 2 homolog isoform X3

      Conserved Domains (1) summary
      pfam04516
      Location:303493
      CP2; CP2 transcription factor
    2. XM_006520065.4XP_006520128.1  grainyhead-like protein 2 homolog isoform X5

      See identical proteins and their annotated locations for XP_006520128.1

      UniProtKB/TrEMBL
      Q9DCN4
      Related
      ENSMUSP00000125410.2, ENSMUST00000161405.8
      Conserved Domains (1) summary
      pfam04516
      Location:229419
      CP2; CP2 transcription factor
    3. XM_006520063.5XP_006520126.3  grainyhead-like protein 2 homolog isoform X1

      Conserved Domains (1) summary
      pfam04516
      Location:213422
      CP2; CP2 transcription factor
    4. XM_017316621.3XP_017172110.2  grainyhead-like protein 2 homolog isoform X2

      Conserved Domains (1) summary
      pfam04516
      Location:213422
      CP2; CP2 transcription factor
    5. XM_017316623.2XP_017172112.2  grainyhead-like protein 2 homolog isoform X4

      Conserved Domains (1) summary
      pfam04516
      Location:213403
      CP2; CP2 transcription factor