BCAS2 BCAS2 pre-mRNA processing factor [Homo sapiens (human)] - Gene

Summary

Official Symbol: BCAS2provided by HGNC
Official Full Name: BCAS2 pre-mRNA processing factorprovided by HGNC
Primary source: HGNC:HGNC:975
See related: Ensembl:ENSG00000116752 MIM:605783; AllianceGenome:HGNC:975
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: DAM1; SPF27; Snt309
Summary: Involved in mRNA splicing, via spliceosome. Located in DNA replication factor A complex; centrosome; and nuclear speck. Part of Prp19 complex and U2-type catalytic step 2 spliceosome. Implicated in breast cancer. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in bone marrow (RPKM 27.2), brain (RPKM 25.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p13.2

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (114567557..114581615, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (114579016..114593070, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (115110178..115124236, complement)

Chromosome 1 - NC_000001.11 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?

BCAS2 regulates granulosa cell survival by participating in mRNA alternative splicing.
Title: BCAS2 regulates granulosa cell survival by participating in mRNA alternative splicing.
BCAS2, a protein enriched in advanced prostate cancer, interacts with NBS1 to enhance DNA double-strand break repair.
Title: BCAS2, a protein enriched in advanced prostate cancer, interacts with NBS1 to enhance DNA double-strand break repair.
BCAS2 is an AF-1 coactivator of ERalpha whose overexpression promotes carcinogenic processes, suggesting an important role in the development of estrogen-receptor positive breast cancer.
Title: BCAS2 Enhances Carcinogenic Effects of Estrogen Receptor Alpha in Breast Cancer Cells.
Study showed that CDK4 and BCAS2 may be target genes of miR-486 and levels of CDK4 and BCAS2 were both significantly higher in the esophageal cancer tissues and cell lines than levels in the normal tissues and cells.
Title: miR-486 functions as a tumor suppressor in esophageal cancer by targeting CDK4/BCAS2.
Chromosomal breakpoints involved the BCAS2 gene in 1q31 is associated with Diffuse Large B-Cell Lymphomas.
Title: Novel IGH and MYC Translocation Partners in Diffuse Large B-Cell Lymphomas.
BCAS2 interacts with HSF4 and negatively regulates its protein stability via ubiquitination.
Title: BCAS2 interacts with HSF4 and negatively regulates its protein stability via ubiquitination.
These results demonstrate that Aurora B inhibits both direct interaction with the microtubule and oligomerization of the Dam1 complex to drive error correction during mitosis.
Title: The molecular architecture of the Dam1 kinetochore complex is defined by cross-linking based structural modelling.
BCAS2 is a novel androgen receptor-interacting protein.
Title: BCAS2 promotes prostate cancer cells proliferation by enhancing AR mRNA transcription and protein stability.
ERRbeta signalling leads to BCAS2-mediated blockage of the G1/S transition and inhibition of the epithelial to mesenchymal transition through FST-mediated regulation of E-cadherin
Title: ERRβ signalling through FST and BCAS2 inhibits cellular proliferation in breast cancer cells.
BCAS2 directly interacts with p53 to reduce p53 transcriptional activity by mildly but consistently decreasing p53 protein in the absence of DNA damage. In the presence of DNA damage, BCAS2 prominently reduces p53 protein.
Title: Breast cancer amplified sequence 2, a novel negative regulator of the p53 tumor suppressor.

Submit: New GeneRIF Correction See all GeneRIFs (12)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Common genetic variants on 1p13.2 associate with risk of autism. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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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

SHGC-36835 (e-PCR)
- UniSTS:60278

EST28B4 (e-PCR)
- UniSTS:263319

D1S2509E (e-PCR)
- UniSTS:154069

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA splicing	TAS Traceable Author Statement more info	PubMed
involved_in RNA splicing, via transesterification reactions	TAS Traceable Author Statement more info	PubMed
involved_in mRNA splicing, via spliceosome	IDA Inferred from Direct Assay more info	PubMed
involved_in mRNA splicing, via spliceosome	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of DNA replication factor A complex	IDA Inferred from Direct Assay more info	PubMed
part_of Prp19 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Prp19 complex	IPI Inferred from Physical Interaction more info	PubMed
part_of U2-type catalytic step 2 spliceosome	IDA Inferred from Direct Assay more info	PubMed
part_of catalytic step 2 spliceosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	IDA Inferred from Direct Assay more info
located_in nuclear speck	IDA Inferred from Direct Assay more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of spliceosomal complex	IDA Inferred from Direct Assay more info	PubMed
part_of spliceosomal complex	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: pre-mRNA-splicing factor SPF27

Names: DNA amplified in mammary carcinoma 1 protein; breast carcinoma amplified sequence 2; spliceosome associated protein, amplified in breast cancer; spliceosome-associated protein SPF 27

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.