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

Gene ID: 15204, updated on 2-Nov-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 negative regulation of Notch signaling pathway; neuron differentiation; and spermatogenesis. Located in mitochondrial inner membrane. Is expressed in several structures, including central nervous system; genitourinary system; liver; peripheral nervous system ganglion; and spleen. Human ortholog(s) of this gene implicated in autosomal recessive intellectual developmental disorder 38 and pigmentation disease. Orthologous to human HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2). [provided by Alliance of Genome Resources, Nov 2024]
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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See Herc2 in Genome Data Viewer
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 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. Effects on sperm morphology by alleles at the pink-eyed dilution locus in mice. Wolfe HG. Genetics, 1977 Feb. PMID 863229, Free PMC Article
  3. 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
  4. The effects of mutant p-alleles on the reproductive system in mice. Melvold RW. Genet Res, 1974 Jun. PMID 4435358
  5. 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

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)
  • Chemically induced (ENU) (11)  1 citation
  • Endonuclease-mediated (4) 
  • Gene trapped (1) 
  • Spontaneous (1) 

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 SUMO binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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 activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables ubiquitin protein ligase binding IEA
Inferred from Electronic Annotation
more info
  
enables ubiquitin protein ligase binding ISO
Inferred from Sequence Orthology
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
  
involved_in DNA damage response ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in 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 IEA
Inferred from Electronic Annotation
more info
  
involved_in protein ubiquitination ISO
Inferred from Sequence Orthology
more info
  
involved_in protein ubiquitination ISS
Inferred from Sequence or Structural Similarity
more info
  
acts_upstream_of_or_within spermatogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in centriole IEA
Inferred from Electronic Annotation
more info
  
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 cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cytosol 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 nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
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

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