| Tag | Content |
|---|---|
| Uniprot ID | Q8K5C0; Q80UZ5; |
| Entrez ID | 252973 |
| Genbank protein ID | AAM22619.1; AAH55035.1; AAH42575.1; |
| Genbank nucleotide ID | NM_026496.4 |
| Ensembl protein ID | ENSMUSP00000022895 |
| Ensembl nucleotide ID | ENSMUSG00000022286 |
| Gene name | Grainyhead-like protein 2 homolog |
| Gene symbol | Grhl2 |
| Organism | Mus musculus |
| NCBI taxa ID | 10090 |
| Cleft type | CPO |
| Developmental stage | |
| Data sources | Manually collected |
| Reference | 21515572; 26177923; 20654612; |
| Functional description | Transcription factor playing an important role in primary neurulation and in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' acting as an activator and repressor on distinct target genes (PubMed:22696678). During embryogenesis, plays unique and cooperative roles with GRHL3 in establishing distinct zones of primary neurulation. Essential for closure 3 (rostral end of the forebrain), functions cooperatively with GRHL3 in closure 2 (forebrain/midbrain boundary) and posterior neuropore closure (PubMed:20654612). Regulates epithelial morphogenesis acting as a target gene-associated transcriptional activator of apical junctional complex components. Up-regulates of CLDN3 and CLDN4, as well as of RAB25, which increases the CLDN4 protein and its localization at tight junctions (PubMed:22696678). Comprises an essential component of the transcriptional machinery that establishes appropriate expression levels of CLDN4 and CDH1 in different types of epithelia (PubMed:20978075). Exhibits functional redundancy with GRHL3 in epidermal morphogenetic events such as eyelid fusion and epidermal wound repair (PubMed:21081122). In lung, forms a regulatory loop with NKX2-1 that coordinates lung epithelial cell morphogenesis and differentiation (PubMed:22955271). In keratinocytes, plays a role in telomerase activation during cellular proliferation, regulates TERT expression by binding to TERT promoter region and inhibiting DNA methylation at the 5'-CpG island, possibly by interfering with DNMT1 enzyme activity. In addition, impairs keratinocyte differentiation and epidermal function by inhibiting the expression of genes clustered at the epidermal differentiation complex (EDC) as well as GRHL1 and GRHL3 through epigenetic mechanisms (By similarity). |
| Sequence | MSQESDNNKR LVALVPMPSD PPFNTRRAYT SEDEAWKSYL ENPLTAATKA MMSINGDEDS 60 AAALGLLYDY YKVPRDKRLL SVSKASDSQE DQDKRNCLGT SEAQINLSGG ENRVQVLKTV 120 PVNLCLSQDH MENSKREQYS VSITESSAVI PVSGITVVKA EDFTPVFMAP PVHYPRADSE 180 EQRVVIFEQT QYDLPSIASH SSYLKDDQRS TPDSTYSESF KDGASEKFRS TSVGADEYTY 240 DQTGSGTFQY TLEATKSLRQ KQGEGPMTYL NKGQFYAITL SETGDNKCFR HPISKVRSVV 300 MVVFSEDKNR DEQLKYWKYW HSRQHTAKQR VLDIADYKES FNTIGNIEEI AYNAVSFTWD 360 VNEEAKIFIT VNCLSTDFSS QKGVKGLPLM IQIDTYSYNN RSNKPIHRAY CQIKVFCDKG 420 AERKIRDEER KQNRKKGKGQ ASQAQCNNSS DGKMAAIPLQ KKSDITYFKT MPDLHSQPVL 480 FIPDVHFANL QRTGQVYYNT DDEREGSSVL VKRMFRPMEE EFGPTPSKQI KEENVKRVLL 540 YVRKENDDVF DALMLKSPTV KGLMEALSEK YGLPVEKITK LYKKSKKGIL VNMDDNIIEH 600 YSNEDTFILN MESMVEGFKI TLMEI 625 |
Abbreviation :
CLO : cleft lip only. CPO : cleft palate only.
CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.
| Relation | Gene symbol | Entrez ID | UniProt ID | Cleft type | Developmental stage | Species | Evidence | Details |
|---|---|---|---|---|---|---|---|---|
| 1:1 ortholog | GRHL2 | A0A452F1Z6 | Capra hircus | Prediction | More>> | |||
| 1:1 ortholog | GRHL2 | 100056140 | F7BG04 | Equus caballus | Prediction | More>> | ||
| 1:1 ortholog | GRHL2 | 79977 | Q6ISB3 | Homo sapiens | Prediction | More>> | ||
| 1:1 ortholog | Grhl2 | 252973 | Q8K5C0 | CPO | Mus musculus | Publication | More>> | |
| 1:1 ortholog | GRHL2 | 464320 | H2QWI7 | Pan troglodytes | Prediction | More>> | ||
| 1:1 ortholog | GRHL2 | F1S0Q6 | Sus scrofa | Prediction | More>> | |||
| 1:1 ortholog | Grhl2 | 299979 | B5DEI9 | Rattus norvegicus | Prediction | More>> | ||
| 1:1 ortholog | grhl2b | 100034503 | F7VJQ5 | Danio rerio | Prediction | More>> |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001161 | intronic transcription regulatory region sequence-specific DNA binding | IDA |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | ISS |
| GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | ISO |
| GO:0003677 | DNA binding | IDA |
| GO:0003677 | DNA binding | ISA |
| GO:0003682 | chromatin binding | IDA |
| GO:0003700 | DNA-binding transcription factor activity | IDA |
| GO:0003700 | DNA-binding transcription factor activity | ISA |
| GO:0003700 | DNA-binding transcription factor activity | IBA |
| GO:0031490 | chromatin DNA binding | ISS |
| GO:0031490 | chromatin DNA binding | ISO |
| GO:0043565 | sequence-specific DNA binding | ISS |
| GO:0043565 | sequence-specific DNA binding | ISO |
| GO:0043565 | sequence-specific DNA binding | IDA |
| GO:0043565 | sequence-specific DNA binding | IBA |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0001701 | in utero embryonic development | IMP |
| GO:0001843 | neural tube closure | IMP |
| GO:0003208 | cardiac ventricle morphogenesis | IMP |
| GO:0003382 | epithelial cell morphogenesis | ISS |
| GO:0003382 | epithelial cell morphogenesis | ISO |
| GO:0003382 | epithelial cell morphogenesis | IMP |
| GO:0006355 | regulation of transcription, DNA-templated | IDA |
| GO:0006355 | regulation of transcription, DNA-templated | ISA |
| GO:0006357 | regulation of transcription by RNA polymerase II | IBA |
| GO:0007155 | cell adhesion | ISS |
| GO:0007155 | cell adhesion | ISO |
| GO:0007420 | brain development | IMP |
| GO:0007420 | brain development | IBA |
| GO:0008283 | cell population proliferation | ISO |
| GO:0008544 | epidermis development | ISS |
| GO:0008544 | epidermis development | ISO |
| GO:0008544 | epidermis development | IMP |
| GO:0010468 | regulation of gene expression | IMP |
| GO:0021915 | neural tube development | IMP |
| GO:0021915 | neural tube development | IBA |
| GO:0030323 | respiratory tube development | IMP |
| GO:0034329 | cell junction assembly | ISS |
| GO:0034329 | cell junction assembly | ISO |
| GO:0035264 | multicellular organism growth | IMP |
| GO:0042733 | embryonic digit morphogenesis | IMP |
| GO:0043010 | camera-type eye development | IMP |
| GO:0044030 | regulation of DNA methylation | ISS |
| GO:0044030 | regulation of DNA methylation | ISO |
| GO:0045617 | negative regulation of keratinocyte differentiation | ISS |
| GO:0045617 | negative regulation of keratinocyte differentiation | ISO |
| GO:0045893 | positive regulation of transcription, DNA-templated | IMP |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | ISO |
| GO:0045944 | positive regulation of transcription by RNA polymerase II | IDA |
| GO:0048568 | embryonic organ development | IMP |
| GO:0048701 | embryonic cranial skeleton morphogenesis | IMP |
| GO:0051973 | positive regulation of telomerase activity | ISS |
| GO:0051973 | positive regulation of telomerase activity | ISO |
| GO:0060324 | face development | IMP |
| GO:0060463 | lung lobe morphogenesis | IMP |
| GO:0060487 | lung epithelial cell differentiation | IMP |
| GO:0060672 | epithelial cell morphogenesis involved in placental branching | IMP |
| GO:0061713 | anterior neural tube closure | IMP |
| GO:0070830 | bicellular tight junction assembly | ISS |
| GO:0070830 | bicellular tight junction assembly | ISO |
| GO:0090132 | epithelium migration | IMP |
| GO ID | GO Term | Evidence |
|---|---|---|
| GO:0005634 | nucleus | ISS |
| GO:0005634 | nucleus | ISO |
| GO:0005634 | nucleus | IBA |
| GO:0005634 | nucleus | IDA |
| GO:0005654 | nucleoplasm | ISO |
| GO:0005911 | cell-cell junction | ISS |
| GO:0005911 | cell-cell junction | ISO |
| GO:0016020 | membrane | IEA |
| Reactome ID | Reactome Term | Evidence |
|---|
| Pfam ID | Pfam Term |
|---|---|
| PF04516 | CP2 |