Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79977
Gene name Gene Name - the full gene name approved by the HGNC.
Grainyhead like transcription factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GRHL2
Synonyms (NCBI Gene) Gene synonyms aliases
BOM, DFNA28, ECTDS, PPCD4, TFCP2L3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DFNA28, ECTDS, PPCD4
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
ZEB1 Repression 23814079
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 21873635
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
GO:0001161 Function Intronic transcription regulatory region sequence-specific DNA binding ISS
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608576 2799 ENSG00000083307
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Anonychia ANONYCHIA rs74315420, rs74315421, rs74315422, rs74315423, rs387907026, rs387907027, rs387907028, rs780261665, rs775644973, rs370554150
Corneal dystrophy Corneal dystrophy rs121909212, rs121909214, rs760714959, rs766305306, rs1554579819, rs1554579832, rs1554579878 29499165
Deafness Deafness, Autosomal Dominant 28 rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822
View all (1019 more)
25152456
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Rheumatoid arthritis Rheumatoid arthritis GWAS
Bronchopulmonary Dysplasia Bronchopulmonary Dysplasia GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
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