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

Gene ID: 64224, updated on 3-Dec-2024

Summary

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 be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
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

See HERPUD2 in Genome Data Viewer
Location:
7p14.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (35632659..35695135, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (35773637..35840411, complement)
RS_2024_09 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

Expression

  • 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

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_022373.5NP_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:987
    Herp_N; Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain protein
    smart00213
    Location:1087
    UBQ; Ubiquitin homologues

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_000007.14 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_006715765.3XP_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:951
    Ubiquitin_like_fold; Beta-grasp ubiquitin-like fold
  2. XM_047420698.1XP_047276654.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein isoform X2

  3. XM_017012506.3XP_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:987
    Herp_N; Homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain protein
    smart00213
    Location:1087
    UBQ; Ubiquitin homologues
  4. XM_047420699.1XP_047276655.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein isoform X3

    UniProtKB/TrEMBL
    C9J4Q7

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_054358786.1XP_054214761.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein isoform X2

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

    UniProtKB/Swiss-Prot
    A4D1Y8, Q9BSE4, Q9H6F9
  3. XM_054358787.1XP_054214762.1  homocysteine-responsive endoplasmic reticulum-resident ubiquitin-like domain member 2 protein isoform X2

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

    UniProtKB/TrEMBL
    C9J4Q7