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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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