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    HERPUD2 HERPUD family member 2 [ Homo sapiens (human) ]

    Gene ID: 64224, updated on 19-May-2024

    Summary

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    Official Symbol
    HERPUD2provided by HGNC
    Official Full Name
    HERPUD family member 2provided by HGNC
    Primary source
    HGNC:HGNC:21915
    See related
    Ensembl:ENSG00000122557 MIM:620829; AllianceGenome:HGNC:21915
    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
    Summary
    Predicted to be involved in endoplasmic reticulum unfolded protein response. Predicted to act upstream of or within spermatogenesis. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 12.4), ovary (RPKM 12.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HERPUD2 in Genome Data Viewer
    Location:
    7p14.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (35632659..35695135, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (35773637..35840411, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (35672269..35734745, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901614 Neighboring gene uncharacterized LOC101928421 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:35641191-35641691 Neighboring gene MPRA-validated peak6479 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:35733884-35734771 Neighboring gene HERPUD2 antisense RNA 1 Neighboring gene long intergenic non-protein coding RNA 3013

    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. Heritability and genetic association analysis of cognition in the Diabetes Heart Study. Cox AJ, et al. Neurobiol Aging, 2014 Aug. PMID 24684796, Free PMC Article
    2. Solubility-based genetic screen identifies RING finger protein 126 as an E3 ligase for activation-induced cytidine deaminase. Delker RK, et al. Proc Natl Acad Sci U S A, 2013 Jan 15. PMID 23277564, Free PMC Article
    3. Interaction mapping of endoplasmic reticulum ubiquitin ligases identifies modulators of innate immune signalling. Fenech EJ, et al. Elife, 2020 Jul 2. PMID 32614325, Free PMC Article
    4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. Trynka G, et al. Gut, 2009 Aug. PMID 19240061
    5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association. (HuGE Navigator)
      Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
    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

    EBI GWAS Catalog

    Description
    Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    • FLJ22313, FLJ31032

    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
    		  
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein
    Names
    homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 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_022373.5 → NP_071768.3  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein

      See identical proteins and their annotated locations for NP_071768.3

      Status: VALIDATED

      Source sequence(s)
      AK315685, BC020264, DA282706, DA778088
      Consensus CDS
      CCDS5446.1
      UniProtKB/Swiss-Prot
      A4D1Y8, Q9BSE4, Q9H6F9
      Related
      ENSP00000310729.3, ENST00000311350.8
      Conserved Domains (2) summary
      cd01790
      Location:9 → 87
      Herp_N; Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain protein
      smart00213
      Location:10 → 87
      UBQ; Ubiquitin homologues

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      35632659..35695135 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715765.3 → XP_006715828.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein isoform X2

      See identical proteins and their annotated locations for XP_006715828.1

      Conserved Domains (1) summary
      cl28922
      Location:9 → 51
      Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold

    2. XM_047420698.1 → XP_047276654.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein isoform X2

    3. XM_017012506.3 → XP_016867995.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      A4D1Y8, Q9BSE4, Q9H6F9
      Related
      ENSP00000379390.1, ENST00000396081.5
      Conserved Domains (2) summary
      cd01790
      Location:9 → 87
      Herp_N; Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain protein
      smart00213
      Location:10 → 87
      UBQ; Ubiquitin homologues

    4. XM_047420699.1 → XP_047276655.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      35773637..35840411 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358786.1 → XP_054214761.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein isoform X2

    2. XM_054358785.1 → XP_054214760.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein isoform X1

      UniProtKB/Swiss-Prot
      A4D1Y8, Q9BSE4, Q9H6F9

    3. XM_054358787.1 → XP_054214762.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein isoform X2

    4. XM_054358788.1 → XP_054214763.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSE4.2 GenPept UniProtKB/Swiss-Prot:Q9BSE4

    Gene LinkOut

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

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