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

Gene ID: 387923, updated on 7-Apr-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 and protein glycosylation. Predicted to be located in endoplasmic reticulum membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in brain (RPKM 17.7), testis (RPKM 10.7) and 16 other tissues See more
Orthologs
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Genomic context

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Location:
13q14.11
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (44373647..44397714)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (43593406..43617488)
105.20220307 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
  • 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. 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
  5. Towards a proteome-scale map of the human protein-protein interaction network. Rual JF, et al. Nature, 2005 Oct 20. PMID 16189514

See all (12) 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_2023_10

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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