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    SERP2 stress associated endoplasmic reticulum protein family member 2 [ Homo sapiens (human) ]

    Gene ID: 387923, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SERP2provided by HGNC
    Official Full Name
    stress associated endoplasmic reticulum protein family member 2provided by HGNC
    Primary source
    HGNC:HGNC:20607
    See related
    Ensembl:ENSG00000151778 AllianceGenome:HGNC:20607
    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
    C13orf21; bA269C23.1
    Summary
    Predicted to be involved in endoplasmic reticulum unfolded protein response. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 17.7), testis (RPKM 10.7) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SERP2 in Genome Data Viewer
    Location:
    13q14.11
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (44373647..44397714)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (43593406..43617488)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (44947783..44971850)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107984552 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:44886104-44887303 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:44903813-44904314 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:44906909-44907408 Neighboring gene uncharacterized LOC105370297 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:44991723-44992251 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:44999732-44999924 Neighboring gene tumor suppressor candidate 8 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr13:45008784-45009983 Neighboring gene uncharacterized LOC124903167 Neighboring gene TSC22 domain family member 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:45026151-45026652 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:45026653-45027152

    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. Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. Zheng JS, et al. PLoS One, 2013. PMID 24204828, Free PMC Article
    2. The DNA sequence and analysis of human chromosome 13. Dunham A, et al. Nature, 2004 Apr 1. PMID 15057823, Free PMC Article
    3. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article
    4. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, Free PMC Article
    5. SUMOylation of DDX39A Alters Binding and Export of Antiviral Transcripts to Control Innate Immunity. Shi P, et al. J Immunol, 2020 Jul 1. PMID 32393512

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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 contribution of genotype by environment interaction to variation of diabetes-related traits.
    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)

    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

    • MGC35505

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in endoplasmic reticulum unfolded protein response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    stress-associated endoplasmic reticulum protein 2
    Names
    ribosome-associated membrane protein RAMP4-2

    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_001010897.3 → NP_001010897.1  stress-associated endoplasmic reticulum protein 2

      See identical proteins and their annotated locations for NP_001010897.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) is the longer protein coding transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL138960, BC029067
      Consensus CDS
      CCDS31965.1
      UniProtKB/Swiss-Prot
      Q8N6R1
      Related
      ENSP00000368477.3, ENST00000379179.8
      Conserved Domains (1) summary
      pfam06624
      Location:2 → 58
      RAMP4; Ribosome associated membrane protein RAMP4

    2. NM_001346980.2 → NP_001333909.1  stress-associated endoplasmic reticulum protein 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AL138960
      Consensus CDS
      CCDS31965.1
      UniProtKB/Swiss-Prot
      Q8N6R1
      Conserved Domains (1) summary
      pfam06624
      Location:2 → 58
      RAMP4; Ribosome associated membrane protein RAMP4

    RNA

    1. NR_144535.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) contains an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL138960
      Related
      ENST00000493476.1

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      44373647..44397714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007063679.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      43593406..43617488
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008488762.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6R1.1 GenPept UniProtKB/Swiss-Prot:Q8N6R1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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