Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	29117
Gene name	Bromodomain containing 7
Gene symbol	BRD7
Synonyms (NCBI Gene)	BP75CELTIX1NAG4SMARCI1
Chromosome	16
Chromosome location	16q12.1
Summary	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

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SNP ID	Visualize variation	Clinical significance	Consequence
rs796065051	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained

104

Show/Hide all (104)

miRTarBase ID	miRNA	Experiments	Reference
MIRT006219	hsa-miR-200c-3p	ImmunohistochemistryLuciferase reporter assayMicroarrayWestern 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
MIRT527582	hsa-miR-4761-3p	PAR-CLIP	20371350
MIRT527581	hsa-miR-300	PAR-CLIP	20371350
MIRT527580	hsa-miR-381-3p	PAR-CLIP	20371350
MIRT527579	hsa-miR-382-3p	PAR-CLIP	20371350
MIRT527578	hsa-miR-4301	PAR-CLIP	20371350
MIRT527577	hsa-miR-6861-5p	PAR-CLIP	20371350
MIRT527576	hsa-miR-503-3p	PAR-CLIP	20371350
MIRT527575	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT527574	hsa-miR-1260a	PAR-CLIP	20371350
MIRT527573	hsa-miR-1260b	PAR-CLIP	20371350
MIRT527572	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT527583	hsa-miR-624-3p	PAR-CLIP	20371350
MIRT527582	hsa-miR-4761-3p	PAR-CLIP	20371350
MIRT527581	hsa-miR-300	PAR-CLIP	20371350
MIRT527580	hsa-miR-381-3p	PAR-CLIP	20371350
MIRT527579	hsa-miR-382-3p	PAR-CLIP	20371350
MIRT527578	hsa-miR-4301	PAR-CLIP	20371350
MIRT527577	hsa-miR-6861-5p	PAR-CLIP	20371350
MIRT527576	hsa-miR-503-3p	PAR-CLIP	20371350
MIRT527575	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT527574	hsa-miR-1260a	PAR-CLIP	20371350
MIRT527573	hsa-miR-1260b	PAR-CLIP	20371350
MIRT527572	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT527583	hsa-miR-624-3p	PAR-CLIP	22012620
MIRT527582	hsa-miR-4761-3p	PAR-CLIP	22012620
MIRT527581	hsa-miR-300	PAR-CLIP	22012620
MIRT527580	hsa-miR-381-3p	PAR-CLIP	22012620
MIRT527579	hsa-miR-382-3p	PAR-CLIP	22012620
MIRT527578	hsa-miR-4301	PAR-CLIP	22012620
MIRT527577	hsa-miR-6861-5p	PAR-CLIP	22012620
MIRT527576	hsa-miR-503-3p	PAR-CLIP	22012620
MIRT527575	hsa-miR-188-3p	PAR-CLIP	22012620
MIRT527574	hsa-miR-1260a	PAR-CLIP	22012620
MIRT527573	hsa-miR-1260b	PAR-CLIP	22012620
MIRT527572	hsa-miR-3156-3p	PAR-CLIP	22012620
MIRT441105	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT441105	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT527581	hsa-miR-300	Luciferase reporter assayqRT-PCRWestern blot	26010572
MIRT527583	hsa-miR-624-3p	PAR-CLIP	20371350
MIRT527582	hsa-miR-4761-3p	PAR-CLIP	20371350
MIRT527581	hsa-miR-300	PAR-CLIP	20371350
MIRT527580	hsa-miR-381-3p	PAR-CLIP	20371350
MIRT527579	hsa-miR-382-3p	PAR-CLIP	20371350
MIRT527578	hsa-miR-4301	PAR-CLIP	20371350
MIRT527577	hsa-miR-6861-5p	PAR-CLIP	20371350
MIRT527576	hsa-miR-503-3p	PAR-CLIP	20371350
MIRT527575	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT527574	hsa-miR-1260a	PAR-CLIP	20371350
MIRT527573	hsa-miR-1260b	PAR-CLIP	20371350
MIRT527572	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT527583	hsa-miR-624-3p	PAR-CLIP	20371350
MIRT527582	hsa-miR-4761-3p	PAR-CLIP	20371350
MIRT527581	hsa-miR-300	PAR-CLIP	20371350
MIRT527580	hsa-miR-381-3p	PAR-CLIP	20371350
MIRT527579	hsa-miR-382-3p	PAR-CLIP	20371350
MIRT527578	hsa-miR-4301	PAR-CLIP	20371350
MIRT527577	hsa-miR-6861-5p	PAR-CLIP	20371350
MIRT527576	hsa-miR-503-3p	PAR-CLIP	20371350
MIRT527575	hsa-miR-188-3p	PAR-CLIP	20371350
MIRT527574	hsa-miR-1260a	PAR-CLIP	20371350
MIRT527573	hsa-miR-1260b	PAR-CLIP	20371350
MIRT527572	hsa-miR-3156-3p	PAR-CLIP	20371350
MIRT527583	hsa-miR-624-3p	PAR-CLIP	22012620
MIRT527582	hsa-miR-4761-3p	PAR-CLIP	22012620
MIRT527581	hsa-miR-300	PAR-CLIP	22012620
MIRT527580	hsa-miR-381-3p	PAR-CLIP	22012620
MIRT527579	hsa-miR-382-3p	PAR-CLIP	22012620
MIRT527578	hsa-miR-4301	PAR-CLIP	22012620
MIRT527577	hsa-miR-6861-5p	PAR-CLIP	22012620
MIRT527576	hsa-miR-503-3p	PAR-CLIP	22012620
MIRT527575	hsa-miR-188-3p	PAR-CLIP	22012620
MIRT527574	hsa-miR-1260a	PAR-CLIP	22012620
MIRT527573	hsa-miR-1260b	PAR-CLIP	22012620
MIRT527572	hsa-miR-3156-3p	PAR-CLIP	22012620
MIRT824517	hsa-miR-1299	CLIP-seq
MIRT824518	hsa-miR-520d-5p	CLIP-seq
MIRT824519	hsa-miR-524-5p	CLIP-seq
MIRT824520	hsa-miR-548ac	CLIP-seq
MIRT824521	hsa-miR-548ae	CLIP-seq
MIRT824522	hsa-miR-548aj	CLIP-seq
MIRT824523	hsa-miR-548am	CLIP-seq
MIRT824524	hsa-miR-548d-3p	CLIP-seq
MIRT824525	hsa-miR-548x	CLIP-seq
MIRT824526	hsa-miR-548z	CLIP-seq
MIRT824527	hsa-miR-561	CLIP-seq
MIRT824528	hsa-miR-639	CLIP-seq
MIRT824529	hsa-miR-875-3p	CLIP-seq
MIRT824517	hsa-miR-1299	CLIP-seq
MIRT1943723	hsa-miR-374c	CLIP-seq
MIRT1943724	hsa-miR-381	CLIP-seq
MIRT1943725	hsa-miR-655	CLIP-seq
MIRT824529	hsa-miR-875-3p	CLIP-seq
MIRT2182455	hsa-miR-1915	CLIP-seq
MIRT1943723	hsa-miR-374c	CLIP-seq
MIRT1943724	hsa-miR-381	CLIP-seq
MIRT2182456	hsa-miR-4267	CLIP-seq
MIRT2182457	hsa-miR-4726-3p	CLIP-seq
MIRT2182458	hsa-miR-556-3p	CLIP-seq
MIRT1943725	hsa-miR-655	CLIP-seq

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Transcription factor	Regulation	Reference
E2F6	Unknown	16792505
MAX	Unknown	19111069
MYC	Repression	19111069
SP1	Activation	19111069
SP1	Unknown	16792505

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
GO:0003714	Function	Transcription corepressor activity	IDA	16265664
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0003714	Function	Transcription corepressor activity	ISS
GO:0005515	Function	Protein binding	IPI	12489984, 18329849, 20228809, 20660729, 32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11025449, 12489984, 16265664, 20228809, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10526152
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	TAS	10526152
GO:0005829	Component	Cytosol	IDA
GO:0006338	Process	Chromatin remodeling	NAS	10078207
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	12489984
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	18809673
GO:0007346	Process	Regulation of mitotic cell cycle	IMP	20228809
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016586	Component	RSC-type complex	NAS	8804307
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	25066234
GO:0042393	Function	Histone binding	IDA	12489984
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	15985610
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IMP	20228809
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	16265664
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0140015	Function	Histone H3K14ac reader activity	IDA	16265664
GO:0140566	Function	Histone reader activity	IBA
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	NAS	10778858
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	IDA	16265664
GO:2000781	Process	Positive regulation of double-strand break repair	NAS	25066234
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

MIM	HGNC	e!Ensembl
618489	14310	ENSG00000166164

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

	KEGG		Reactome
	ATP-dependent chromatin remodeling Hepatocellular carcinoma		Regulation of TP53 Activity through Acetylation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Granular cell cancer	Likely pathogenic	rs796065051	RCV000190398	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECTUM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (27)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Inhibit	27580131	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alcoholism	Associate	28981154	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Stimulate	29596882	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Associate	35943053	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Inhibit	25743841	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	30592293, 31929348, 33617509	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	25743841	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Inhibit	26620707	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	26149213	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Associate	12918109	★★★★★ ★☆☆☆☆ Found in Text Mining only
Crohn Disease	Associate	23615072	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Associate	26620707	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	26802028	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Associate	18071067, 18778484, 27010857	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Inhibit	25743841, 37940358, 39664566	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	37940358	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Inhibit	39664566	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	12918109, 18778484, 26802028	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	20660729, 24840027, 26010572, 26620707, 27010857, 27580131, 28951988, 30592293, 31929348, 37940358, 39664566	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Associate	37378023	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Inhibit	24840027	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	26010572	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	34163028, 37478850	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Associate	25743841	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	36477655	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Associate	37197658	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Associate	23110154	★★★★★ ★☆☆☆☆ Found in Text Mining only

BRD7 (bromodomain containing 7)