BRD7 (bromodomain containing 7)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29117
Gene name Gene Name - the full gene name approved by the HGNC.
Bromodomain containing 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BRD7
Synonyms (NCBI Gene) Gene synonyms aliases
BP75, CELTIX1, NAG4, SMARCI1
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling complex, and as a protein which interacts with p53 and
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs796065051 G>A Likely-pathogenic Coding sequence variant, non coding transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(104)
miRTarBase ID miRNA Experiments Reference
MIRT006219 hsa-miR-200c-3p Immunohistochemistry, Luciferase reporter assay, Microarray, Western blot 22015043
MIRT048707 hsa-miR-99a-5p CLASH 23622248
MIRT037026 hsa-miR-877-3p CLASH 23622248
MIRT036077 hsa-miR-1296-5p CLASH 23622248
MIRT527583 hsa-miR-624-3p PAR-CLIP 20371350
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
Transcription factor Regulation Reference
E2F6 Unknown 16792505
MAX Unknown 19111069
MYC Repression 19111069
SP1 Activation 19111069
SP1 Unknown 16792505
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(42)
GO ID Ontology Definition Evidence Reference
GO:0000776 Component Kinetochore NAS 11078522
GO:0000785 Component Chromatin NAS 12192000
GO:0000976 Function Transcription cis-regulatory region binding IDA 20228809
GO:0002039 Function P53 binding IPI 20228809
GO:0003713 Function Transcription coactivator activity IDA 20228809
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
618489 14310 ENSG00000166164
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9NPI1
Protein name Bromodomain-containing protein 7 (75 kDa bromodomain protein) (Protein CELTIX-1)
Protein function Acts both as coactivator and as corepressor. May play a role in chromatin remodeling. Activator of the Wnt signaling pathway in a DVL1-dependent manner by negatively regulating the GSK3B phosphotransferase activity. Induces dephosphorylation of
PDB 2I7K , 5MQ1 , 6PPA , 6V0Q , 6V16 , 6V17 , 6V1E , 6V1F , 6V1H , 7VDV , 7Y8R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00439 Bromodomain 140 → 223 Bromodomain Domain
PF12024 DUF3512 298 → 485 Domain of unknown function (DUF3512) Family
Sequence 
MGKKHKKHKSDKHLYEEYVEKPLKLVLKVGGNEVTELSTGSSGHDSSLFEDKNDHDKHKD
RKRKKRKKGEKQIPGEEKGRKRRRVKEDKKKRDRDRVENEAEKDLQCHAPVRLDLPPEKP
LTSSLAKQEEVEQTPLQEALNQLMRQLQRKDPSAFFSFPVTDFIAPGYSMIIKHPMDFST
MKEKIKNNDYQSIEELKDNFKLMCTNAMIYNKPETIYYKAAKKLLHSGMKILSQERIQSL
KQSIDFMADLQKTRKQKDGTDTSQSGEDGGCWQREREDSGDAEAHAFKSPSKENKKKDKD
MLEDKFKSNNLEREQEQLDRIVKESGGKLTRRLVNSQCEFERRKPDGTTTLGLLHPVDPI
VGEPGYCPVRLGMTTGRLQSGVNTLQGFKEDKRNKVTPVLYLNYGPYSSYAPHYDSTFAN
ISKDDSDLIYSTYGEDSDLPSDFSIHEFLATCQDYPYVMADSLLDVLTKGGHSRTLQEME
MSLPEDEGHTRTLDTAKEMEITEVEPPGRLDSSTQDRLIALKAVTNFGVPVEVFDSEEAE
IFQKKLDETTRLLRELQEAQNERLSTRPPPNMICLLGPSYREMHLAEQVTNNLKELAQQV
TPGDIVSTYGVRKAMGISIPSPVMENNFVDLTEDTEEPKKTDVAECGPGGS
Sequence length 651
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  ATP-dependent chromatin remodeling
Hepatocellular carcinoma 		  Regulation of TP53 Activity through Acetylation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypothyroidism Hypothyroidism N/A N/A GWAS
Inflammatory Bowel Disease Inflammatory bowel disease (MTAG) N/A N/A GWAS
Show/Hide Text Mining Associations (27)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Inhibit 27580131
Alcoholism Associate 28981154
Anemia Aplastic Stimulate 29596882
Asthma Associate 35943053
Breast Neoplasms Inhibit 25743841
Breast Neoplasms Associate 30592293, 31929348, 33617509
Carcinogenesis Associate 25743841
Carcinoma Hepatocellular Inhibit 26620707
Carcinoma Non Small Cell Lung Associate 26149213
Colorectal Neoplasms Associate 12918109