BRD9 bromodomain containing 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BRD9provided by HGNC
Official Full Name: bromodomain containing 9provided by HGNC
Primary source: HGNC:HGNC:25818
See related: Ensembl:ENSG00000028310 MIM:618465; AllianceGenome:HGNC:25818
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PRO9856; SMARCI2; LAVS3040
Summary: Enables lysine-acetylated histone binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of SWI/SNF complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in testis (RPKM 6.5), lymph node (RPKM 4.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5p15.33

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (863741..892801, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (769793..798853, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (863856..892916, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

TPPP-BRD9 fusion-related gallbladder carcinomas are frequently associated with intracholecystic neoplasia, neuroendocrine carcinoma, and a distinctive small tubular-type adenocarcinoma commonly accompanied with a syringomatous pattern.
Title: TPPP-BRD9 fusion-related gallbladder carcinomas are frequently associated with intracholecystic neoplasia, neuroendocrine carcinoma, and a distinctive small tubular-type adenocarcinoma commonly accompanied with a syringomatous pattern.
BRD9 regulates normal human hematopoietic stem cell function and lineage differentiation.
Title: BRD9 regulates normal human hematopoietic stem cell function and lineage differentiation.
The ncBAF Complex Regulates Transcription in AML Through H3K27ac Sensing by BRD9.
Title: The ncBAF Complex Regulates Transcription in AML Through H3K27ac Sensing by BRD9.
Pan-cancer analyses of bromodomain containing 9 as a novel therapeutic target reveals its diagnostic, prognostic potential and biological mechanism in human tumours.
Title: Pan-cancer analyses of bromodomain containing 9 as a novel therapeutic target reveals its diagnostic, prognostic potential and biological mechanism in human tumours.
Bromodomain-Containing Protein 9 Regulates Signaling Pathways and Reprograms the Epigenome in Immortalized Human Uterine Fibroid Cells.
Title: Bromodomain-Containing Protein 9 Regulates Signaling Pathways and Reprograms the Epigenome in Immortalized Human Uterine Fibroid Cells.
BRD9-SMAD2/3 Orchestrates Stemness and Tumorigenesis in Pancreatic Ductal Adenocarcinoma.
Title: BRD9-SMAD2/3 Orchestrates Stemness and Tumorigenesis in Pancreatic Ductal Adenocarcinoma.
BRD9-mediated control of the TGF-beta/Activin/Nodal pathway regulates self-renewal and differentiation of human embryonic stem cells and progression of cancer cells.
Title: BRD9-mediated control of the TGF-β/Activin/Nodal pathway regulates self-renewal and differentiation of human embryonic stem cells and progression of cancer cells.
BRD9 Degradation Disrupts Ribosome Biogenesis in Multiple Myeloma.
Title: BRD9 Degradation Disrupts Ribosome Biogenesis in Multiple Myeloma.
BRD9 is an essential regulator of glycolysis that creates an epigenetic vulnerability in colon adenocarcinoma.
Title: BRD9 is an essential regulator of glycolysis that creates an epigenetic vulnerability in colon adenocarcinoma.
Characterization of the Functional Interplay between the BRD7 and BRD9 Homologues in mSWI/SNF Complexes.
Title: Characterization of the Functional Interplay between the BRD7 and BRD9 Homologues in mSWI/SNF Complexes.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lysine-acetylated histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables lysine-acetylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables nucleic acid binding	NAS Non-traceable Author Statement more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in chromatin remodeling	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of cell differentiation	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of cell population proliferation	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of stem cell population maintenance	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of GBAF complex	NAS Non-traceable Author Statement more info	PubMed
part_of SWI/SNF complex	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: bromodomain-containing protein 9

Names: rhabdomyosarcoma antigen MU-RMS-40.8; sarcoma antigen NY-SAR-29

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001009877.3 → NP_001009877.2 bromodomain-containing protein 9 isoform 2

See identical proteins and their annotated locations for NP_001009877.2

Status: VALIDATED

Source sequence(s)

AC122719

Consensus CDS

CCDS34128.2

UniProtKB/Swiss-Prot

Q9H8M2

UniProtKB/TrEMBL

B4DXI2

Related

ENSP00000419845.1, ENST00000483173.5

Conserved Domains (2) summary

pfam12024
Location:221 → 450

DUF3512; Domain of unknown function (DUF3512)

cl02556
Location:102 → 184

Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.
NM_001317951.2 → NP_001304880.1 bromodomain-containing protein 9 isoform 3

Status: VALIDATED

Source sequence(s)

AK023503, AK299157

UniProtKB/Swiss-Prot

Q9H8M2

Conserved Domains (2) summary

cd05513
Location:24 → 121

Bromo_brd7_like; Bromodomain, brd7_like subgroup. The BRD7 gene encodes a nuclear protein that has been shown to inhibit cell growth and the progression of the cell cycle by regulating cell-cycle genes at the transcriptional level. BRD7 has been identified as a gene ...

pfam12024
Location:178 → 407

DUF3512; Domain of unknown function (DUF3512)
NM_001375861.1 → NP_001362790.1 bromodomain-containing protein 9 isoform 4

Status: VALIDATED

Source sequence(s)

AC122719

Conserved Domains (2) summary

cd05513
Location:140 → 237

Bromo_brd7_like; Bromodomain, brd7_like subgroup. The BRD7 gene encodes a nuclear protein that has been shown to inhibit cell growth and the progression of the cell cycle by regulating cell-cycle genes at the transcriptional level. BRD7 has been identified as a gene ...

pfam12024
Location:294 → 553

DUF3512; Domain of unknown function (DUF3512)
NM_001375862.1 → NP_001362791.1 bromodomain-containing protein 9 isoform 5

Status: VALIDATED

Source sequence(s)

AC122719

Conserved Domains (2) summary

cd05513
Location:140 → 237

Bromo_brd7_like; Bromodomain, brd7_like subgroup. The BRD7 gene encodes a nuclear protein that has been shown to inhibit cell growth and the progression of the cell cycle by regulating cell-cycle genes at the transcriptional level. BRD7 has been identified as a gene ...

pfam12024
Location:319 → 544

DUF3512; Domain of unknown function (DUF3512)
NM_001375863.1 → NP_001362792.1 bromodomain-containing protein 9 isoform 6

Status: VALIDATED

Source sequence(s)

AC122719

Conserved Domains (2) summary

cd05513
Location:142 → 239

Bromo_brd7_like; Bromodomain, brd7_like subgroup. The BRD7 gene encodes a nuclear protein that has been shown to inhibit cell growth and the progression of the cell cycle by regulating cell-cycle genes at the transcriptional level. BRD7 has been identified as a gene ...

pfam12024
Location:296 → 525

DUF3512; Domain of unknown function (DUF3512)
NM_001375877.1 → NP_001362806.1 bromodomain-containing protein 9 isoform 7

Status: VALIDATED

Source sequence(s)

AC122719

Conserved Domains (2) summary

cd05513
Location:140 → 237

Bromo_brd7_like; Bromodomain, brd7_like subgroup. The BRD7 gene encodes a nuclear protein that has been shown to inhibit cell growth and the progression of the cell cycle by regulating cell-cycle genes at the transcriptional level. BRD7 has been identified as a gene ...

pfam12024
Location:294 → 523

DUF3512; Domain of unknown function (DUF3512)
NM_001375878.1 → NP_001362807.1 bromodomain-containing protein 9 isoform 8

Status: VALIDATED

Source sequence(s)

AC122719

Conserved Domains (2) summary

cd05513
Location:142 → 239

Bromo_brd7_like; Bromodomain, brd7_like subgroup. The BRD7 gene encodes a nuclear protein that has been shown to inhibit cell growth and the progression of the cell cycle by regulating cell-cycle genes at the transcriptional level. BRD7 has been identified as a gene ...

pfam12024
Location:276 → 505

DUF3512; Domain of unknown function (DUF3512)
NM_001375879.1 → NP_001362808.1 bromodomain-containing protein 9 isoform 9

Status: VALIDATED

Source sequence(s)

AC122719

Conserved Domains (2) summary

cd05513
Location:140 → 237

Bromo_brd7_like; Bromodomain, brd7_like subgroup. The BRD7 gene encodes a nuclear protein that has been shown to inhibit cell growth and the progression of the cell cycle by regulating cell-cycle genes at the transcriptional level. BRD7 has been identified as a gene ...

pfam12024
Location:273 → 502

DUF3512; Domain of unknown function (DUF3512)
NM_023924.5 → NP_076413.3 bromodomain-containing protein 9 isoform 1

See identical proteins and their annotated locations for NP_076413.3

Status: VALIDATED

Source sequence(s)

AK023503, AK026830, AK299157

Consensus CDS

CCDS34127.2

UniProtKB/Swiss-Prot

A6NFY8, B4DMQ2, B4DR93, Q2XUS1, Q6UWU9, Q8IUS4, Q9H5Q5, Q9H7R9, Q9H8M2

Related

ENSP00000419765.1, ENST00000467963.6

Conserved Domains (2) summary

cd05513
Location:140 → 237

Bromo_brd7_like; Bromodomain, brd7_like subgroup. The BRD7 gene encodes a nuclear protein that has been shown to inhibit cell growth and the progression of the cell cycle by regulating cell-cycle genes at the transcriptional level. BRD7 has been identified as a gene ...

pfam12024
Location:274 → 503

DUF3512; Domain of unknown function (DUF3512)

RNA

NR_184208.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC122719

Related

ENST00000489816.5
NR_184210.1 RNA Sequence

Status: VALIDATED

Source sequence(s)

AC122719

Related

ENST00000495265.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

863741..892801 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047417605.1 → XP_047273561.1 bromodomain-containing protein 9 isoform X10
XM_024446198.2 → XP_024301966.1 bromodomain-containing protein 9 isoform X9

Conserved Domains (2) summary

pfam12024
Location:100 → 329

DUF3512; Domain of unknown function (DUF3512)

cl02556
Location:1 → 63

Bromodomain; Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.
XM_024446200.2 → XP_024301968.1 bromodomain-containing protein 9 isoform X8

Conserved Domains (2) summary

pfam12024
Location:120 → 349

DUF3512; Domain of unknown function (DUF3512)

cl02556
Location:1 → 63

Bromodomain; Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.
XM_024446199.2 → XP_024301967.1 bromodomain-containing protein 9 isoform X7

Conserved Domains (2) summary

cd05513
Location:24 → 121

Bromo_brd7_like; Bromodomain, brd7_like subgroup. The BRD7 gene encodes a nuclear protein that has been shown to inhibit cell growth and the progression of the cell cycle by regulating cell-cycle genes at the transcriptional level. BRD7 has been identified as a gene ...

pfam12024
Location:158 → 387

DUF3512; Domain of unknown function (DUF3512)
XM_047417600.1 → XP_047273556.1 bromodomain-containing protein 9 isoform X1
XM_024446195.2 → XP_024301963.1 bromodomain-containing protein 9 isoform X1

Conserved Domains (2) summary

cd05513
Location:140 → 237

Bromo_brd7_like; Bromodomain, brd7_like subgroup. The BRD7 gene encodes a nuclear protein that has been shown to inhibit cell growth and the progression of the cell cycle by regulating cell-cycle genes at the transcriptional level. BRD7 has been identified as a gene ...

pfam12024
Location:294 → 523

DUF3512; Domain of unknown function (DUF3512)
XM_047417602.1 → XP_047273558.1 bromodomain-containing protein 9 isoform X4
XM_047417601.1 → XP_047273557.1 bromodomain-containing protein 9 isoform X2
XM_047417604.1 → XP_047273560.1 bromodomain-containing protein 9 isoform X6
XM_047417603.1 → XP_047273559.1 bromodomain-containing protein 9 isoform X5
XM_024446196.2 → XP_024301964.1 bromodomain-containing protein 9 isoform X3

Conserved Domains (2) summary

cd05513
Location:140 → 237

Bromo_brd7_like; Bromodomain, brd7_like subgroup. The BRD7 gene encodes a nuclear protein that has been shown to inhibit cell growth and the progression of the cell cycle by regulating cell-cycle genes at the transcriptional level. BRD7 has been identified as a gene ...

pfam12024
Location:294 → 481

DUF3512; Domain of unknown function (DUF3512)
XM_047417606.1 → XP_047273562.1 bromodomain-containing protein 9 isoform X12
XM_006714494.4 → XP_006714557.1 bromodomain-containing protein 9 isoform X11

Conserved Domains (2) summary

cd05513
Location:140 → 237

Bromo_brd7_like; Bromodomain, brd7_like subgroup. The BRD7 gene encodes a nuclear protein that has been shown to inhibit cell growth and the progression of the cell cycle by regulating cell-cycle genes at the transcriptional level. BRD7 has been identified as a gene ...

pfam12024
Location:294 → 342

DUF3512; Domain of unknown function (DUF3512)