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    CSRNP3 cysteine and serine rich nuclear protein 3 [ Homo sapiens (human) ]

    Gene ID: 80034, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CSRNP3provided by HGNC
    Official Full Name
    cysteine and serine rich nuclear protein 3provided by HGNC
    Primary source
    HGNC:HGNC:30729
    See related
    Ensembl:ENSG00000178662 MIM:620405; AllianceGenome:HGNC:30729
    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
    MBU1; TAIP2; TAIP-2; PPP1R73; FAM130A2
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and sequence-specific DNA binding activity. Predicted to be involved in positive regulation of apoptotic process and positive regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 7.4), endometrium (RPKM 2.0) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CSRNP3 in Genome Data Viewer
    Location:
    2q24.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (165469698..165689407)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (165926990..166146740)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (166326208..166545917)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene sodium voltage-gated channel alpha subunit 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12066 Neighboring gene Sharpr-MPRA regulatory region 13511 Neighboring gene sodium voltage-gated channel alpha subunit 2 Neighboring gene MAPRE1 pseudogene 3 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:166279515-166280129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:166283004-166283939 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:166317128-166318327 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166385525-166386157 Neighboring gene MPRA-validated peak3912 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr2:166436961-166437478 Neighboring gene NANOG hESC enhancer GRCh37_chr2:166437479-166437996 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16727 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16726 Neighboring gene uncharacterized LOC124906085 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166490986-166491565 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166491566-166492144 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:166564017-166564558 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166565101-166565640 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166593391-166593948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166649507-166650413 Neighboring gene uncharacterized LOC124906086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:166650414-166651319 Neighboring gene polypeptide N-acetylgalactosaminyltransferase 3 Neighboring gene NANOG hESC enhancer GRCh37_chr2:166700603-166701418 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:166710405-166710906 Neighboring gene uncharacterized LOC100506124

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Genome-wide association meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age. Deelen J, et al. Hum Mol Genet, 2014 Aug 15. PMID 24688116, Free PMC Article
    2. Characterization of a family of novel cysteine- serine-rich nuclear proteins (CSRNP). Gingras S, et al. PLoS One, 2007 Aug 29. PMID 17726538, Free PMC Article
    3. Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts. Dick DM, et al. Am J Med Genet B Neuropsychiatr Genet, 2010 Sep. PMID 20468071, Free PMC Article
    4. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. Maestrini E, et al. Mol Psychiatry, 2010 Sep. PMID 19401682, Free PMC Article
    5. Docking motif-guided mapping of the interactome of protein phosphatase-1. Hendrickx A, et al. Chem Biol, 2009 Apr 24. PMID 19389623

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts.
    Submit: New GeneRIF Correction

    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 meta-analysis of human longevity identifies a novel locus conferring survival beyond 90 years of age.
    EBI GWAS Catalog

    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

    Homology

    Clone Names

    • FLJ11703, FLJ32093, FLJ44141

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    cysteine/serine-rich nuclear protein 3
    Names
    TGF-beta induced apoptosis protein 2
    family with sequence similarity 130, member A2
    protein phosphatase 1, regulatory subunit 73

    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_001172173.2 → NP_001165644.1  cysteine/serine-rich nuclear protein 3

      See identical proteins and their annotated locations for NP_001165644.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC019140, AK056655, AK126129
      Consensus CDS
      CCDS2225.1
      UniProtKB/Swiss-Prot
      B3KPR4, Q53SG0, Q6ZTX3, Q8WYN3, Q9HAF9
      Related
      ENSP00000498841.1, ENST00000651982.1
      Conserved Domains (1) summary
      pfam16019
      Location:61 → 278
      CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

    2. NM_024969.3 → NP_079245.2  cysteine/serine-rich nuclear protein 3

      See identical proteins and their annotated locations for NP_079245.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC019140, AK056655, DA500249
      Consensus CDS
      CCDS2225.1
      UniProtKB/Swiss-Prot
      B3KPR4, Q53SG0, Q6ZTX3, Q8WYN3, Q9HAF9
      Related
      ENSP00000344042.4, ENST00000342316.8
      Conserved Domains (1) summary
      pfam16019
      Location:61 → 278
      CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

    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

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      165469698..165689407
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047445908.1 → XP_047301864.1  cysteine/serine-rich nuclear protein 3 isoform X3

      UniProtKB/Swiss-Prot
      B3KPR4, Q53SG0, Q6ZTX3, Q8WYN3, Q9HAF9

    2. XM_024453155.2 → XP_024308923.1  cysteine/serine-rich nuclear protein 3 isoform X3

      UniProtKB/Swiss-Prot
      B3KPR4, Q53SG0, Q6ZTX3, Q8WYN3, Q9HAF9
      Conserved Domains (1) summary
      pfam16019
      Location:61 → 278
      CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

    3. XM_047445907.1 → XP_047301863.1  cysteine/serine-rich nuclear protein 3 isoform X1

    4. XM_005246865.5 → XP_005246922.1  cysteine/serine-rich nuclear protein 3 isoform X2

      UniProtKB/TrEMBL
      J3KQ49
      Related
      ENSP00000387195.1, ENST00000409420.1
      Conserved Domains (1) summary
      pfam16019
      Location:93 → 310
      CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      165926990..166146740
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344010.1 → XP_054199985.1  cysteine/serine-rich nuclear protein 3 isoform X3

      UniProtKB/Swiss-Prot
      B3KPR4, Q53SG0, Q6ZTX3, Q8WYN3, Q9HAF9

    2. XM_054344008.1 → XP_054199983.1  cysteine/serine-rich nuclear protein 3 isoform X1

    3. XM_054344009.1 → XP_054199984.1  cysteine/serine-rich nuclear protein 3 isoform X2

      UniProtKB/TrEMBL
      J3KQ49
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8WYN3.1 GenPept UniProtKB/Swiss-Prot:Q8WYN3

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