Human Gene GRHL2 (uc010mbu.3) Description and Page Index
Description: Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA. RefSeq Summary (NM_024915): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data because transcript sequence consistent with the reference genome assembly was not available for all regions of the RefSeq transcript. The extent of this transcript is supported by transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK023844.1, BC129822.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000646743.1/ ENSP00000495564.1 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr8:102,504,668-102,681,952 Size: 177,285 Total Exon Count: 16 Strand: + Coding Region Position: hg19 chr8:102,504,998-102,678,931 Size: 173,934 Coding Exon Count: 16
ID:GRHL2_HUMAN DESCRIPTION: RecName: Full=Grainyhead-like protein 2 homolog; AltName: Full=Brother of mammalian grainyhead; AltName: Full=Transcription factor CP2-like 3; FUNCTION: May function as a transcription factor. SUBUNIT: Homodimer, also forms heterodimers with GRHL1 or GRHL3. SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Highly expressed in placenta, prostate, brain and kidney. Lower-level expression in a variety of epithelial tissues such as thymus, kidney, lung, salivary gland, mammary gland and digestive tract. Expressed in the cochlear. DISEASE: Defects in GRHL2 are the cause of deafness autosomal dominant type 28 (DFNA28) [MIM:608641]. DFNA28 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA28 is characterized by mild to moderate hearing loss across most frequencies that progressed to severe loss in the higher frequencies by the fifth decade. Age at onset varied, with the earliest case documented at 7 years of age. SIMILARITY: Belongs to the grh/CP2 family. Grainyhead subfamily.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): GRHL2 CDC HuGE Published Literature: GRHL2
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6ISB3
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.