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

Gene ID: 64224, updated on 3-Apr-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 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
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Genomic context

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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

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