Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29841
Gene name Gene Name - the full gene name approved by the HGNC.
Grainyhead like transcription factor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GRHL1
Synonyms (NCBI Gene) Gene synonyms aliases
LBP32, MGR, NH32, TFCP2L2
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p25.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the grainyhead family of transcription factors. The encoded protein can exist as a homodimer or can form heterodimers with sister-of-mammalian grainyhead or brother-of-mammalian grainyhead. This protein functions as a transcr
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT026212 hsa-miR-192-5p Microarray 19074876
MIRT437584 hsa-miR-125a-5p Microarray, qRT-PCR 22815788
MIRT437754 hsa-miR-99a-5p Microarray, qRT-PCR 22815788
MIRT437755 hsa-miR-99b-5p Microarray, qRT-PCR 22815788
MIRT437756 hsa-miR-100-5p Microarray, qRT-PCR 22815788
Transcription factors
Transcription factor Regulation Reference
HDAC3 Repression 24419085
MYCN Repression 24419085
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:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 18288204
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 12175488
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609786 17923 ENSG00000134317
Protein
UniProt ID Q9NZI5
Protein name Grainyhead-like protein 1 homolog (Mammalian grainyhead) (NH32) (Transcription factor CP2-like 2) (Transcription factor LBP-32)
Protein function Transcription factor involved in epithelial development. Binds directly to the consensus DNA sequence 5'-AACCGGTT-3' (PubMed:12175488, PubMed:18288204, PubMed:29309642). Important regulator of DSG1 in the context of hair anchorage and epidermal
PDB 5MPF , 5MPH , 5MPI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04516 CP2 231 442 CP2 transcription factor Family
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is highly expressed in brain, pancreas, tonsil, placenta and kidney. Isoform 2 is highly expressed in brain and liver. Expressed at very low levels in non-steroidogenic cells. {ECO:0000269|PubMed:10644752, ECO:0000269|PubMed:
Sequence
MTQEYDNKRPVLVLQNEALYPQRRSYTSEDEAWKSFLENPLTAATKAMMSINGDEDSAAA
LGLLYDYYKVPRERRSSTAKPEVEHPEPDHSKRNSIPIVTEQPLISAGENRVQVLKNVPF
NIVLPHGNQLGIDKRGHLTAPDTTVTVSIATMPTHSIKTETQPHGFAVGIPPAVYHPEPT
ERVVVFDRNLNTDQFSSGAQAPNAQRRTPDSTFSETFKEGVQEVFFPSDLSLRMPGMNSE
DYVFDSVSGNNFEYTLEASKSLRQKPGDSTMTYLNKGQFYPITLKEVSSSEGIHHPISKV
RSVIMVVFAEDKSREDQLRHWKYWHSRQHTAKQRCIDIADYKESFNTISNIEEIAYNAIS
FTWDINDEAKVFISVNCLSTDFSSQKGVKGLPLNIQVDTYSYNNRSNKPVHRAYCQIKVF
CDKGAERKIRDEERKQSKRKVS
DVKVPLLPSHKRMDITVFKPFIDLDTQPVLFIPDVHFA
NLQRGTHVLPIASEELEGEGSVLKRGPYGTEDDFAVPPSTKLARIEEPKRVLLYVRKESE
EVFDALMLKTPSLKGLMEAISDKYDVPHDKIGKIFKKCKKGILVNMDDNIVKHYSNEDTF
QLQIEEAGGSYKLTLTEI
Sequence length 618
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    PPARA activates gene expression
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
27790247
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
29059683
Diabetes Diabetes rs80356611 27790247
Diabetes mellitus Diabetes Mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
27790247
Unknown
Disease term Disease name Evidence References Source
Coronary heart disease Coronary heart disease 27790247 ClinVar
Heart failure Heart failure 27790247 ClinVar
Neuroticism Neuroticism 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
Neoplasms Inhibit 29301499
Prostatic Neoplasms Associate 26068399, 36095024
Skin Neoplasms Inhibit 29301499