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    CSN1S2AP casein alpha s2 like A, pseudogene [ Homo sapiens (human) ]

    Gene ID: 286828, updated on 16-Jan-2024

    Summary

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    Official Symbol
    CSN1S2APprovided by HGNC
    Official Full Name
    casein alpha s2 like A, pseudogeneprovided by HGNC
    Primary source
    HGNC:HGNC:20230
    See related
    Ensembl:ENSG00000293421 AllianceGenome:HGNC:20230
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CSN1S2A
    Summary
    This locus is the equivalent of casein gamma in mouse (GeneID 12993) and is found in a cluster of casein genes, similar to other mammals. In human, the potential open reading frame that matches the homologous protein from other species is prematurely truncated shortly after the signal peptide. Therefore, this locus appears to be a pseudogene. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
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    Genomic context

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    See CSN1S2AP in Genome Data Viewer
    Location:
    4q13.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (70067386..70085273)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (73402250..73420114)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (70933103..70950990)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene histatin 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:70928535-70929734 Neighboring gene histatin 1 Neighboring gene casein alpha s2 like B, pseudogene Neighboring gene proline rich 27

    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. Multispecies comparison of the casein gene loci and evolution of casein gene family. Rijnkels M. J Mammary Gland Biol Neoplasia, 2002 Jul. PMID 12751895
    2. Multispecies comparative analysis of a mammalian-specific genomic domain encoding secretory proteins. Rijnkels M, et al. Genomics, 2003 Oct. PMID 13679022
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    General gene information

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    Markers

    Other Names

    • alpha-S2-like casein A

    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.

    RNA

    1. NR_003720.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AY154892
      Related
      ENST00000451783.5

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      70067386..70085273
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_013171801.1 Reference GRCh38.p14 PATCHES

      Range
      107525..125389
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      73402250..73420114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_173085.1: Suppressed sequence

      Description
      NM_173085.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version

    Gene LinkOut

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