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    CSRNP2 cysteine and serine rich nuclear protein 2 [ Homo sapiens (human) ]

    Gene ID: 81566, updated on 28-Oct-2024

    Summary

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    Official Symbol
    CSRNP2provided by HGNC
    Official Full Name
    cysteine and serine rich nuclear protein 2provided by HGNC
    Primary source
    HGNC:HGNC:16006
    See related
    Ensembl:ENSG00000110925 MIM:620404; AllianceGenome:HGNC:16006
    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
    C12orf2; PPP1R72; TAIP-12; C12orf22; FAM130A1
    Summary
    The protein encoded by this gene belongs to the CSRNP family of nuclear proteins that share conserved regions, including cysteine- and serine- rich regions, a basic domain, a transcriptional activation domain, and bind the sequence 'AGAGTG', thus have the hallmark of transcription factors. Studies in mice suggest that these genes may have redundant functions. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011]
    Expression
    Broad expression in testis (RPKM 16.6), brain (RPKM 11.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CSRNP2 in Genome Data Viewer
    Location:
    12q13.12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (51061205..51083596, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (51024095..51046514, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (51454988..51477379, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene solute carrier family 11 member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51419127-51419740 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51419741-51420352 Neighboring gene RNA, U6 small nuclear 87, pseudogene Neighboring gene RNA, U6 small nuclear 1273, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6367 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51441816-51442354 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51442355-51442893 Neighboring gene LETM1 domain containing 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:51463214-51463714 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4458 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:51477804-51478430 Neighboring gene transcription factor CP2 Neighboring gene ribosomal protein L35a pseudogene 29 Neighboring gene PHB1 pseudogene 19

    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 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. 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
    2. Docking motif-guided mapping of the interactome of protein phosphatase-1. Hendrickx A, et al. Chem Biol, 2009 Apr 24. PMID 19389623
    3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. Flachsbart F, et al. Mutat Res, 2010 Dec 10. PMID 20800603
    4. An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. Chen S, et al. Nat Genet, 2018 Jul. PMID 29892012, Free PMC Article
    5. Large-scale concatenation cDNA sequencing. Yu W, et al. Genome Res, 1997 Apr. PMID 9110174, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ25576

    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 phosphatase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 2
    Names
    CSRNP-2
    TGF-beta-induced apoptosis protein 12
    family with sequence similarity 130, member A1
    protein phosphatase 1, regulatory subunit 72

    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_030809.3 → NP_110436.1  cysteine/serine-rich nuclear protein 2

      See identical proteins and their annotated locations for NP_110436.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AJ298133, BM975428, DB059091
      Consensus CDS
      CCDS8807.1
      UniProtKB/Swiss-Prot
      Q9H175
      UniProtKB/TrEMBL
      B2R7Q9
      Related
      ENSP00000228515.1, ENST00000228515.6
      Conserved Domains (1) summary
      pfam16019
      Location:62 → 279
      CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

    RNA

    1. NR_045072.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate donor splice site at the 5' terminal exon compared to variant 1. It is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with the translation of the longest ORF; translation of the upstream ORF renders this transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AJ298133, BM975428, DB460042

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      51061205..51083596 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449216.2 → XP_024304984.1  cysteine/serine-rich nuclear protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9H175
      UniProtKB/TrEMBL
      B2R7Q9
      Conserved Domains (1) summary
      pfam16019
      Location:62 → 279
      CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

    2. XM_024449214.2 → XP_024304982.1  cysteine/serine-rich nuclear protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9H175
      UniProtKB/TrEMBL
      B2R7Q9
      Conserved Domains (1) summary
      pfam16019
      Location:62 → 279
      CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

    3. XM_047429621.1 → XP_047285577.1  cysteine/serine-rich nuclear protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9H175

    4. XM_024449215.2 → XP_024304983.1  cysteine/serine-rich nuclear protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9H175
      UniProtKB/TrEMBL
      B2R7Q9
      Conserved Domains (1) summary
      pfam16019
      Location:62 → 279
      CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

    5. XM_024449213.2 → XP_024304981.1  cysteine/serine-rich nuclear protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9H175
      UniProtKB/TrEMBL
      B2R7Q9
      Conserved Domains (1) summary
      pfam16019
      Location:62 → 279
      CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

    6. XM_047429619.1 → XP_047285575.1  cysteine/serine-rich nuclear protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9H175

    7. XM_047429618.1 → XP_047285574.1  cysteine/serine-rich nuclear protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9H175

    8. XM_047429620.1 → XP_047285576.1  cysteine/serine-rich nuclear protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9H175

    9. XM_024449210.2 → XP_024304978.1  cysteine/serine-rich nuclear protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9H175
      UniProtKB/TrEMBL
      B2R7Q9
      Conserved Domains (1) summary
      pfam16019
      Location:62 → 279
      CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

    10. XM_047429617.1 → XP_047285573.1  cysteine/serine-rich nuclear protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9H175

    11. XM_024449211.2 → XP_024304979.1  cysteine/serine-rich nuclear protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9H175
      UniProtKB/TrEMBL
      B2R7Q9
      Conserved Domains (1) summary
      pfam16019
      Location:62 → 279
      CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

    12. XM_024449212.2 → XP_024304980.1  cysteine/serine-rich nuclear protein 2 isoform X1

      UniProtKB/Swiss-Prot
      Q9H175
      UniProtKB/TrEMBL
      B2R7Q9
      Conserved Domains (1) summary
      pfam16019
      Location:62 → 279
      CSRNP_N; Cysteine/serine-rich nuclear protein N-terminus

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      51024095..51046514 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373357.1 → XP_054229332.1  cysteine/serine-rich nuclear protein 2 isoform X1

    2. XM_054373354.1 → XP_054229329.1  cysteine/serine-rich nuclear protein 2 isoform X1

    3. XM_054373360.1 → XP_054229335.1  cysteine/serine-rich nuclear protein 2 isoform X1

    4. XM_054373361.1 → XP_054229336.1  cysteine/serine-rich nuclear protein 2 isoform X1

    5. XM_054373355.1 → XP_054229330.1  cysteine/serine-rich nuclear protein 2 isoform X1

    6. XM_054373358.1 → XP_054229333.1  cysteine/serine-rich nuclear protein 2 isoform X1

    7. XM_054373356.1 → XP_054229331.1  cysteine/serine-rich nuclear protein 2 isoform X1

    8. XM_054373359.1 → XP_054229334.1  cysteine/serine-rich nuclear protein 2 isoform X1

    9. XM_054373362.1 → XP_054229337.1  cysteine/serine-rich nuclear protein 2 isoform X1

    10. XM_054373363.1 → XP_054229338.1  cysteine/serine-rich nuclear protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H175.1 GenPept UniProtKB/Swiss-Prot:Q9H175

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