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

Gene ID: 10286, updated on 5-Sep-2021

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
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
Expression
Ubiquitous expression in bone marrow (RPKM 27.2), brain (RPKM 25.4) and 25 other tissues See more
Orthologs
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Genomic context

See BCAS2 in Genome Data Viewer
Location:
1p13.2
Exon count:
7
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (114567557..114581615, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (115110178..115124236, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378913 Neighboring gene pyruvate kinase M1/2 pseudogene 1 Neighboring gene uncharacterized LOC105378914 Neighboring gene DENN domain containing 2C Neighboring gene adenosine monophosphate deaminase 1

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Common genetic variants on 1p13.2 associate with risk of autism.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of Prp19 complex IBA
Inferred from Biological aspect of Ancestor
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
PubMed 
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 

General protein information

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.

mRNA and Protein(s)

  1. NM_005872.3NP_005863.1  pre-mRNA-splicing factor SPF27

    See identical proteins and their annotated locations for NP_005863.1

    Status: VALIDATED

    Source sequence(s)
    BC022880, BC039238, BF184377
    Consensus CDS
    CCDS874.1
    UniProtKB/Swiss-Prot
    O75934
    UniProtKB/TrEMBL
    B2R7W3
    Related
    ENSP00000358554.3, ENST00000369541.4
    Conserved Domains (1) summary
    pfam05700
    Location:11214
    BCAS2; Breast carcinoma amplified sequence 2 (BCAS2)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    114567557..114581615 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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