Gene Gene information from NCBI Gene database.
Entrez ID 79977
Gene name Grainyhead like transcription factor 2
Gene symbol GRHL2
Synonyms (NCBI Gene)
BOMDFNA28ECTDSPPCD4TFCP2L3
Chromosome 8
Chromosome location 8q22.3
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 b
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs55682875 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, genic downstream transcript variant, synonymous variant
rs398122997 ->C Pathogenic Coding sequence variant, frameshift variant, genic downstream transcript variant
rs398123006 G>A Pathogenic Genic downstream transcript variant, splice acceptor variant
rs587777737 T>C Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
rs587777738 T>A,C Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
773
miRTarBase ID miRNA Experiments Reference
MIRT029844 hsa-miR-26b-5p Microarray 19088304
MIRT736656 hsa-miR-150-3p RNA-seq 32808540
MIRT1033882 hsa-miR-103a CLIP-seq
MIRT1033883 hsa-miR-103b CLIP-seq
MIRT1033884 hsa-miR-106a CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ZEB1 Repression 23814079
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
65
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001161 Function Intronic transcription regulatory region sequence-specific DNA binding IEA
GO:0001161 Function Intronic transcription regulatory region sequence-specific DNA binding ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608576 2799 ENSG00000083307
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ISB3
Protein name Grainyhead-like protein 2 homolog (Brother of mammalian grainyhead) (Transcription factor CP2-like 3)
Protein function Transcription factor playing an important role in primary neurulation and in epithelial development (PubMed:25152456, PubMed:29309642). Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct
PDB 5MR7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04516 CP2 214 438 CP2 transcription factor Family
Tissue specificity TISSUE SPECIFICITY: Expressed in keratinocytes (at protein level). Highly expressed in placenta, prostate, brain and kidney. Lower-level expression in a variety of epithelial tissues such as thymus, lung, salivary gland, mammary gland and digestive tract.
Sequence
MSQESDNNKRLVALVPMPSDPPFNTRRAYTSEDEAWKSYLENPLTAATKAMMSINGDEDS
AAALGLLYDYYKVPRDKRLLSVSKASDSQEDQEKRNCLGTSEAQSNLSGGENRVQVLKTV
PVNLSLNQDHLENSKREQYSISFPESSAIIPVSGITVVKAEDFTPVFMAPPVHYPRGDGE
EQRVVIFEQTQYDVPSLATHSAYLKDDQRSTPDSTYSESFKDAATEKFRSASVGAEEYMY
DQTSSGTFQYTLEATKSLRQKQGEGPMTYLNKGQFYAITLSETGDNKCFRHPISKVRSVV
MVVFSEDKNRDEQLKYWKYWHSRQHTAKQRVLDIADYKESFNTIGNIEEIAYNAVSFTWD
VNEEAKIFITVNCLSTDFSSQKGVKGLPLMIQIDTYSYNNRSNKPIHRAYCQIKVFCDKG
AERKIRDEERKQNRKKGK
GQASQTQCNSSSDGKLAAIPLQKKSDITYFKTMPDLHSQPVL
FIPDVHFANLQRTGQVYYNTDDEREGGSVLVKRMFRPMEEEFGPVPSKQMKEEGTKRVLL
YVRKETDDVFDALMLKSPTVKGLMEAISEKYGLPVEKIAKLYKKSKKGILVNMDDNIIEH
YSNEDTFILNMESMVEGFKVTLMEI
Sequence length 625
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
70
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant nonsyndromic hearing loss 28 Pathogenic rs398122997, rs398123006 RCV000002279
RCV000077792
Corneal dystrophy Likely pathogenic; Pathogenic rs1554579819, rs1554579832, rs1554579878 RCV000656694
RCV000656693
RCV000656692
Corneal dystrophy, posterior polymorphous, 4 Likely pathogenic; Pathogenic rs1554579819, rs1554579878 RCV000656696
RCV000656697
GRHL2-related disorder Likely pathogenic rs2536894969, rs2536796557 RCV004548603
RCV003410540
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs34332949 RCV005890095
Cholangiocarcinoma Benign rs3735709 RCV005890091
Clear cell carcinoma of kidney Benign rs34332949 RCV005890096
Colon adenocarcinoma Benign rs34332949 RCV005890093
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenomyosis Associate 37019419
Adie Syndrome Inhibit 38303513
Age Related Hearing Impairment 1 Associate 29455378
Aneuploidy Stimulate 37761927
Asthma Associate 25152456
Breast Neoplasms Associate 22379025, 31084623, 31110002, 36691073, 38429368
Carcinogenesis Inhibit 25550776
Carcinoma Ovarian Epithelial Associate 26887977, 28278050
Congenital Cranial Dysinnervation Disorders Associate 29110737
Corneal Dystrophy Posterior Polymorphous 1 Associate 29499165