BCL7A BAF chromatin remodeling complex subunit BCL7A [Homo sapiens (human)] - Gene

Summary

Official Symbol: BCL7Aprovided by HGNC
Official Full Name: BAF chromatin remodeling complex subunit BCL7Aprovided by HGNC
Primary source: HGNC:HGNC:1004
See related: Ensembl:ENSG00000110987 MIM:601406; AllianceGenome:HGNC:1004
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BCL7; SMARCJ1
Summary: This gene is directly involved, with Myc and IgH, in a three-way gene translocation in a Burkitt lymphoma cell line. As a result of the gene translocation, the N-terminal region of the gene product is disrupted, which is thought to be related to the pathogenesis of a subset of high-grade B cell non-Hodgkin lymphoma. The N-terminal segment involved in the translocation includes the region that shares a strong sequence similarity with those of BCL7B and BCL7C. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in brain (RPKM 10.8), lymph node (RPKM 10.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q24.31

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (122021884..122062044)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (122017688..122057841)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (122459790..122499950)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

BCL7A as a novel prognostic biomarker for glioma patients.
Title: BCL7A as a novel prognostic biomarker for glioma patients.
MiR-501-3p promotes osteosarcoma cell proliferation, migration and invasion by targeting BCL7A.
Title: MiR-501-3p promotes osteosarcoma cell proliferation, migration and invasion by targeting BCL7A.
Frequent mutations in the amino-terminal domain of BCL7A impair its tumor suppressor role in DLBCL.
Title: Frequent mutations in the amino-terminal domain of BCL7A impair its tumor suppressor role in DLBCL.
Survival analysis showed that, compared with those who had higher levels of BCL7A expression, patients with ovarian cancer and low levels of BCL7A generally had shorter overall/relapse-free survival times.
Title: Low BCL7A expression predicts poor prognosis in ovarian cancer.
BCL7A, BRWD3, and AUTS2 demonstrate significantly higher mutation frequencies among AA cases. These genes are all involved in translocations in B-cell malignancies. Moreover, we detected a significant difference in mutation frequency of TP53 and IRF4 with frequencies higher among CA cases. Our study provides rationale for interrogating diverse tumor cohorts to best understand tumor genomics across populations.
Title: Comprehensive molecular profiling of 718 Multiple Myelomas reveals significant differences in mutation frequencies between African and European descent cases.
Data suggest that BCL7A may play an important role in cutaneous T-cell lymphoma (CTCL) carcinogenesis.
Title: Loss of BCL7A expression correlates with poor disease prognosis in patients with early-stage cutaneous T-cell lymphoma.
Report describes BCL7A protein expression in normal lymphoid tissues and lymphomas using immunohistochemistry.
Title: BCL7A protein expression in normal and malignant lymphoid tissues.
Variants in BCL7A were strongly related to diffuse large B-cell lymphoma.
Title: Risk of non-Hodgkin lymphoma associated with germline variation in genes that regulate the cell cycle, apoptosis, and lymphocyte development.
Observational study of gene-disease association. (HuGE Navigator)
Title: Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.
deletion of genes BCL7A in early-stage mycosis fungoides.
Title: Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF.

Submit: New GeneRIF Correction See all GeneRIFs (11)

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
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects. 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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Markers

RH103236 (e-PCR)
- UniSTS:97568

BCL7A_1791 (e-PCR)
- UniSTS:277030

RH80875 (e-PCR)
- UniSTS:88106

SHGC-149267 (e-PCR)
- UniSTS:182573

SHGC-147729 (e-PCR)
- UniSTS:172864

NoName (e-PCR)
- UniSTS:485512

G59230 (e-PCR)
- UniSTS:136403

G64631 (e-PCR)
- UniSTS:163802

RH67957 (e-PCR)
- UniSTS:30443

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chromatin remodeling	NAS Non-traceable Author Statement more info	PubMed
involved_in negative regulation of DNA-templated transcription	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 double-strand break repair	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 G0 to G1 transition	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of G1/S transition of mitotic cell cycle	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of mitotic metaphase/anaphase transition	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of nucleotide-excision repair	NAS Non-traceable Author Statement more info	PubMed
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
part_of SWI/SNF complex	NAS Non-traceable Author Statement more info	PubMed
located_in chromatin	NAS Non-traceable Author Statement more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info

General protein information

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Preferred Names: B-cell CLL/lymphoma 7 protein family member A

Names: B-cell CLL/lymphoma 7A; B-cell CLL/lymphoma-7; BCL tumor suppressor 7A; BCL7A, BAF complex component

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_001024808.3 → NP_001019979.1 B-cell CLL/lymphoma 7 protein family member A isoform b

See identical proteins and their annotated locations for NP_001019979.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.

Source sequence(s)

AC069503, AC156455, AK296159

Consensus CDS

CCDS53841.1

UniProtKB/Swiss-Prot

B4DJN6, B7ZB21, Q13843, Q14CT7, Q4VC05

Related

ENSP00000261822.5, ENST00000261822.5

Conserved Domains (2) summary

PHA02664
Location:72 → 205

PHA02664; hypothetical protein; Provisional

pfam04714
Location:4 → 50

BCL_N; BCL7, N-terminal conserver region
NM_020993.5 → NP_066273.1 B-cell CLL/lymphoma 7 protein family member A isoform a

See identical proteins and their annotated locations for NP_066273.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).

Source sequence(s)

AC069503, AC156455, AK296159, X89984

Consensus CDS

CCDS9226.1

UniProtKB/Swiss-Prot

Q4VC05

Related

ENSP00000445868.1, ENST00000538010.5

Conserved Domains (1) summary

pfam04714
Location:4 → 50

BCL_N; BCL7, N-terminal conserver region