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    Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 [ Mus musculus (house mouse) ]

    Gene ID: 15204, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Herc2provided by MGI
    Official Full Name
    HECT and RLD domain containing E3 ubiquitin protein ligase 2provided by MGI
    Primary source
    MGI:MGI:103234
    See related
    Ensembl:ENSMUSG00000030451 AllianceGenome:MGI:103234
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    rjs; jdf2; D15F32S1h; mKIAA0393; D7H15F32S1; D7H15F37S1
    Summary
    Predicted to enable SUMO binding activity; ubiquitin protein ligase activity; and ubiquitin protein ligase binding activity. Involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Acts upstream of or within spermatogenesis. Located in mitochondrial inner membrane. Is expressed in several structures, including central nervous system; ganglia; and trunk. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability and pigmentation disease. Orthologous to human HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 12.1), cortex adult (RPKM 11.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    7 B5; 7 33.42 cM
    Exon count:
    93
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (55699872..55884373)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (56050124..56231800)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_18963 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:63305247-63305356 Neighboring gene STARR-seq mESC enhancer starr_18964 Neighboring gene ribosomal protein S12-like 1 Neighboring gene STARR-seq mESC enhancer starr_18965 Neighboring gene non imprinted in Prader-Willi/Angelman syndrome 1 homolog (human) Neighboring gene predicted gene, 34121 Neighboring gene predicted gene, 51510 Neighboring gene solute carrier family 1 (neutral amino acid transporter), member 5 pseudogene Neighboring gene STARR-seq mESC enhancer starr_18966 Neighboring gene oculocutaneous albinism II Neighboring gene STARR-seq mESC enhancer starr_18969 Neighboring gene gamma-aminobutyric acid type A receptor, subunit gamma 3 Neighboring gene predicted gene, 17984

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress. Sala-Gaston J, et al. Cell Mol Life Sci, 2022 Oct 14. PMID 36241744, Free PMC Article
    2. A very large protein with diverse functional motifs is deficient in rjs (runty, jerky, sterile) mice. Lehman AL, et al. Proc Natl Acad Sci U S A, 1998 Aug 4. PMID 9689098, Free PMC Article
    3. Pleiotropy in microdeletion syndromes: neurologic and spermatogenic abnormalities in mice homozygous for the p6H deletion are likely due to dysfunction of a single gene. Rinchik EM, et al. Proc Natl Acad Sci U S A, 1995 Jul 3. PMID 7604002, Free PMC Article
    4. The effects of mutant p-alleles on the reproductive system in mice. Melvold RW. Genet Res, 1974 Jun. PMID 4435358
    5. Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse. Lyon MF, et al. Proc Natl Acad Sci U S A, 1992 Aug 1. PMID 1495987, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress.
      Title: HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress.
    2. identified HERC2, a HECT domain-containing E3 ligase, as being responsible for polyubiquitination of USP33.
      Title: Degradation of the deubiquitinating enzyme USP33 is mediated by p97 and the ubiquitin ligase HERC2.
    3. HERC2 acts as a regulator of E6AP.
      Title: Physical and functional interaction of the HECT ubiquitin-protein ligases E6AP and HERC2.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Spontaneous (1) 
    • Gene trapped (1) 
    • Chemically induced (ENU) (11)  1 citation
    • Endonuclease-mediated (4) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0393

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SUMO binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin protein ligase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables ubiquitin-protein transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within negative regulation of Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within neuron differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein ubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein ubiquitination ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within spermatogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in mitochondrial inner membrane HDA PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase HERC2
    Names
    HECT domain and RCC1-like domain-containing protein 2
    HECT-type E3 ubiquitin transferase HERC2
    hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 2
    probable E3 ubiquitin-protein ligase HERC2
    NP_001347009.1
    NP_034548.2
    XP_006540700.1
    XP_006540702.1

    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_001360080.1 → NP_001347009.1  E3 ubiquitin-protein ligase HERC2

      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)
      AC102121, AC102150
      Consensus CDS
      CCDS21318.1
      UniProtKB/Swiss-Prot
      E9PZT6, O88473, Q3TRJ8, Q3TS47, Q3TST2, Q3UFQ6, Q3URH7, Q4U2R1, Q5DU32, Q7TPR5, Q80VV7, Q9QYT1, Q9Z168, Q9Z171
      UniProtKB/TrEMBL
      C6EQH2
      Related
      ENSMUSP00000131573.2, ENSMUST00000164095.3
      Conserved Domains (9) summary
      cd08664
      Location:2766 → 2911
      APC10-HERC2; APC10-like DOC1 domain present in HERC2 (HECT domain and RLD2)
      COG5184
      Location:2957 → 3323
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd00078
      Location:4423 → 4794
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd02344
      Location:2707 → 2751
      ZZ_HERC2; Zinc finger, ZZ type. Zinc finger present in HERC2 and related proteins. HERC2 is a potential E3 ubiquitin protein ligase and/or guanine nucleotide exchange factor. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or ...
      cd14402
      Location:2461 → 2508
      UBA_HERC2; UBA domain found in probable E3 ubiquitin-protein ligase HERC2 and similar proteins
      pfam00173
      Location:1212 → 1283
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
      pfam06701
      Location:1871 → 1930
      MIB_HERC2; Mib_herc2
      pfam11515
      Location:2555 → 2632
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      pfam18346
      Location:2640 → 2697
      SH3_15; Mind bomb SH3 repeat domain

    2. NM_010418.2 → NP_034548.2  E3 ubiquitin-protein ligase HERC2

      See identical proteins and their annotated locations for NP_034548.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AF061529, AF071173, AK148361, BP754028, BY241058
      Consensus CDS
      CCDS21318.1
      UniProtKB/Swiss-Prot
      E9PZT6, O88473, Q3TRJ8, Q3TS47, Q3TST2, Q3UFQ6, Q3URH7, Q4U2R1, Q5DU32, Q7TPR5, Q80VV7, Q9QYT1, Q9Z168, Q9Z171
      UniProtKB/TrEMBL
      C6EQH2
      Related
      ENSMUSP00000075579.7, ENSMUST00000076226.13
      Conserved Domains (9) summary
      cd08664
      Location:2766 → 2911
      APC10-HERC2; APC10-like DOC1 domain present in HERC2 (HECT domain and RLD2)
      COG5184
      Location:2957 → 3323
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd00078
      Location:4423 → 4794
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd02344
      Location:2707 → 2751
      ZZ_HERC2; Zinc finger, ZZ type. Zinc finger present in HERC2 and related proteins. HERC2 is a potential E3 ubiquitin protein ligase and/or guanine nucleotide exchange factor. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or ...
      cd14402
      Location:2461 → 2508
      UBA_HERC2; UBA domain found in probable E3 ubiquitin-protein ligase HERC2 and similar proteins
      pfam00173
      Location:1212 → 1283
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
      pfam06701
      Location:1871 → 1930
      MIB_HERC2; Mib_herc2
      pfam11515
      Location:2555 → 2632
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      pfam18346
      Location:2640 → 2697
      SH3_15; Mind bomb SH3 repeat domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      55699872..55884373
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006540639.3 → XP_006540702.1  E3 ubiquitin-protein ligase HERC2 isoform X2

      UniProtKB/TrEMBL
      C6EQH2
      Related
      ENSMUSP00000145997.2, ENSMUST00000205303.2
      Conserved Domains (9) summary
      cd08664
      Location:2766 → 2911
      APC10-HERC2; APC10-like DOC1 domain present in HERC2 (HECT domain and RLD2)
      COG5184
      Location:2957 → 3323
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd00078
      Location:4387 → 4758
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd02344
      Location:2707 → 2751
      ZZ_HERC2; Zinc finger, ZZ type. Zinc finger present in HERC2 and related proteins. HERC2 is a potential E3 ubiquitin protein ligase and/or guanine nucleotide exchange factor. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or ...
      cd14402
      Location:2461 → 2508
      UBA_HERC2; UBA domain found in probable E3 ubiquitin-protein ligase HERC2 and similar proteins
      pfam00173
      Location:1212 → 1283
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
      pfam06701
      Location:1871 → 1930
      MIB_HERC2; Mib_herc2
      pfam11515
      Location:2555 → 2632
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      pfam18346
      Location:2640 → 2697
      SH3_15; Mind bomb SH3 repeat domain

    2. XM_006540637.4 → XP_006540700.1  E3 ubiquitin-protein ligase HERC2 isoform X1

      See identical proteins and their annotated locations for XP_006540700.1

      UniProtKB/Swiss-Prot
      E9PZT6, O88473, Q3TRJ8, Q3TS47, Q3TST2, Q3UFQ6, Q3URH7, Q4U2R1, Q5DU32, Q7TPR5, Q80VV7, Q9QYT1, Q9Z168, Q9Z171
      UniProtKB/TrEMBL
      C6EQH2
      Conserved Domains (9) summary
      cd08664
      Location:2766 → 2911
      APC10-HERC2; APC10-like DOC1 domain present in HERC2 (HECT domain and RLD2)
      COG5184
      Location:2957 → 3323
      ATS1; Alpha-tubulin suppressor and related RCC1 domain-containing proteins [Cell cycle control, cell division, chromosome partitioning, Cytoskeleton]
      cd00078
      Location:4423 → 4794
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd02344
      Location:2707 → 2751
      ZZ_HERC2; Zinc finger, ZZ type. Zinc finger present in HERC2 and related proteins. HERC2 is a potential E3 ubiquitin protein ligase and/or guanine nucleotide exchange factor. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or ...
      cd14402
      Location:2461 → 2508
      UBA_HERC2; UBA domain found in probable E3 ubiquitin-protein ligase HERC2 and similar proteins
      pfam00173
      Location:1212 → 1283
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
      pfam06701
      Location:1871 → 1930
      MIB_HERC2; Mib_herc2
      pfam11515
      Location:2555 → 2632
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      pfam18346
      Location:2640 → 2697
      SH3_15; Mind bomb SH3 repeat domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4U2R1.3 GenPept UniProtKB/Swiss-Prot:Q4U2R1

    Gene LinkOut

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