Aliases for HERC2 Gene
Aliases for HERC2 Gene
- HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2 2 3 5
- HECT-Type E3 Ubiquitin Transferase HERC2 3 4
- Hect Domain And RLD 2 2 3
- Hect Domain And RCC1-Like Domain-Containing Protein 2 3
- HECT Domain And RCC1-Like Domain-Containing Protein 2 4
- Probable E3 Ubiquitin-Protein Ligase HERC2 3
- E3 Ubiquitin-Protein Ligase HERC2 3
- EC 2.3.2.26 4
External Ids for HERC2 Gene
- HGNC: 4868
- Entrez Gene: 8924
- Ensembl: ENSG00000128731
- OMIM: 605837
- UniProtKB: O95714
Previous GeneCards Identifiers for HERC2 Gene
- GC15M024428
- GC15M021248
- GC15M025823
- GC15M025958
- GC15M026029
- GC15M028356
- GC15M006482
Summaries for HERC2 Gene
-
This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]
GeneCards Summary for HERC2 Gene
HERC2 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2) is a Protein Coding gene. Diseases associated with HERC2 include Mental Retardation, Autosomal Recessive 38. Among its related pathways are DNA Double-Strand Break Repair and Innate Immune System. GO annotations related to this gene include ligase activity and ubiquitin protein ligase binding. An important paralog of this gene is HERC1.
UniProtKB/Swiss-Prot for HERC2 Gene
-
E3 ubiquitin-protein ligase that regulates ubiquitin-dependent retention of repair proteins on damaged chromosomes. Recruited to sites of DNA damage in response to ionizing radiation (IR) and facilitates the assembly of UBE2N and RNF8 promoting DNA damage-induced formation of Lys-63-linked ubiquitin chains. Acts as a mediator of binding specificity between UBE2N and RNF8. Involved in the maintenance of RNF168 levels. E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of XPA which influences the circadian oscillation of DNA excision repair activity.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HERC2 Gene
Genomics for HERC2 Gene
Regulatory Elements for HERC2 Gene
Enhancers for HERC2 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH15G028098 | 1.2 | Ensembl ENCODE | 22.2 | +223.0 | 223019 | 1.5 | HDGF ARNT TCF12 GLIS2 GATA2 ZNF207 KLF13 ZNF263 SP3 MCM3 | HERC2 OCA2 GC15P028070 |
| GH15G028106 | 0.9 | Ensembl ENCODE | 27.3 | +214.9 | 214938 | 1.9 | ZNF263 RNF2 SUZ12 CHD1 CBX2 NFXL1 RBBP5 EZH2 | HERC2 OCA2 GC15M028288 |
| GH15G028293 | 0.8 | ENCODE | 26.6 | +27.6 | 27619 | 2.3 | HDAC1 TCF12 EGR1 EGR2 ZBTB2 NCOA1 ZNF592 MEF2D MTA1 SMARCA4 | HERC2 HERC2P9 GC15M028288 RPL41P2 |
| GH15G028093 | 1.4 | FANTOM5 Ensembl ENCODE | 10.3 | +226.4 | 226376 | 3.7 | TBP HDGF PKNOX1 ATF1 ARID4B SIN3A GLIS2 EGR1 KLF7 EGR2 | HERC2 OCA2 GC15P028070 |
| GH15G028135 | 0.4 | ENCODE | 30 | +185.3 | 185260 | 2.0 | SPI1 | HERC2 OCA2 LOC100419574 GC15M028288 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around HERC2 on UCSC Golden Path with GeneCards custom track
Promoters for HERC2 Gene
| Ensembl Regulatory Elements (ENSRs) | TSS Distance (bp) | Size (bp) | Binding Sites for Transcription Factors within promoters |
|---|---|---|---|
| ENSR00000074222 | 272 | 2201 | ZNF366 ZNF398 PRDM1 |
- Transcription factor binding sites by QIAGEN in the HERC2 gene promoter:
Regulatory Element Products
Genomic Location for HERC2 Gene
- Chromosome:
- 15
- Start:
- 28,111,037 bp from pter
- End:
- 28,322,172 bp from pter
- Size:
- 211,136 bases
- Orientation:
- Minus strand
Genomic View for HERC2 Gene
Genes around HERC2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 15q13.1 by Ensembl
- 15q13.1 by Entrez Gene
- 15q13.1 by HGNC
HERC2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HERC2 Gene
Proteins for HERC2 Gene
-
Protein details for HERC2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O95714-HERC2_HUMAN
- Recommended name:
- E3 ubiquitin-protein ligase HERC2
- Protein Accession:
- O95714
- Q86SV7
- Q86SV8
- Q86SV9
- Q86YY3
- Q86YY4
- Q86YY5
- Q86YY6
- Q86YY7
- Q86YY8
- Q86YY9
- Q86YZ0
- Q86YZ1
Protein attributes for HERC2 Gene
- Size:
- 4834 amino acids
- Molecular mass:
- 527228 Da
- Quaternary structure:
-
- Interacts (when phosphorylated at Thr-4827 and sumoylated) with RNF8 (via FHA domain); this interaction increases after ionizing radiation (IR) treatment. Interacts with XPA. Interacts with NEURL4. Via its interaction with NEURL4, may indirectly interact with CCP110 and CEP97.
- Miscellaneous:
-
- A regulatory element withinin an intron of the HERC2 gene inhibits OCA2 promoter. There are several single nucleotide polymorphisms within the OCA2 gene and within the HERC2 gene that have a statistical association with human eye color.
Protein Expression for HERC2 Gene
Selected DME Specific Peptides for HERC2 Gene
- O95714:
-
- ACGSGDAQTL
- GQVYAWG
- ACGSSHS
- GDGDYGKLG
- GKLGRGGS
- GELYTWG
Post-translational modifications for HERC2 Gene
- Phosphorylation at Thr-4827 is required for interaction with RNF8.
- Sumoylated with SUMO1 by PIAS4 in response to double-strand breaks (DSBs), promoting the interaction with RNF8.
- Ubiquitination at posLast=2020, posLast=9595, isoforms=105, posLast=990990, isoforms=2657, posLast=36903690, posLast=37803780, and isoforms=3839
- Modification sites at PhosphoSitePlus
Other Protein References for HERC2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for HERC2
- Invitrogen Antibodies for HERC2
- antibodies-online Antibodies for HERC2: See all 15
- Search GeneTex for Antibodies for HERC2
-
Santa Cruz Biotechnology (SCBT) Antibodies for HERC2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for HERC2
- Origene Custom Protein Services for HERC2
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Assay Products
Domains & Families for HERC2 Gene
Gene Families for HERC2 Gene
Protein Domains for HERC2 Gene
Suggested Antigen Peptide Sequences for HERC2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O95714UniProtKB/Swiss-Prot:
HERC2_HUMAN :- The ZZ-type zinc finger mediates binding to SUMO1, and at low level SUMO2.
- Domain:
-
- The ZZ-type zinc finger mediates binding to SUMO1, and at low level SUMO2.
- The RCC1 repeats are grouped into three seven-bladed beta-propeller regions.
Function for HERC2 Gene
Molecular function for HERC2 Gene
- GENATLAS Biochemistry:
- HECT domain and RLD2,ancestral gene of a superfamily of low-copy repeat sequences in the PWCR/ANCR breakpoint cluster region
- UniProtKB/Swiss-Prot CatalyticActivity:
- S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.
- UniProtKB/Swiss-Prot Function:
- E3 ubiquitin-protein ligase that regulates ubiquitin-dependent retention of repair proteins on damaged chromosomes. Recruited to sites of DNA damage in response to ionizing radiation (IR) and facilitates the assembly of UBE2N and RNF8 promoting DNA damage-induced formation of Lys-63-linked ubiquitin chains. Acts as a mediator of binding specificity between UBE2N and RNF8. Involved in the maintenance of RNF168 levels. E3 ubiquitin-protein ligase that promotes the ubiquitination and proteasomal degradation of XPA which influences the circadian oscillation of DNA excision repair activity.
Enzyme Numbers (IUBMB) for HERC2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004842 | ubiquitin-protein transferase activity | IDA | 20304803 |
| GO:0005085 | guanyl-nucleotide exchange factor activity | NAS | 9949213 |
| GO:0005515 | protein binding | IPI | 20023648 |
| GO:0008270 | zinc ion binding | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for HERC2 Gene
- MGI mutant phenotypes for HERC2:
- inferred from 12 alleles
- GenomeRNAi human phenotypes for HERC2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for HERC2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HERC2 gene
- Search ViGene Biosciences for HERC2
CRISPR Products
-
OriGene CRISPR knockouts for HERC2
-
Santa Cruz Biotechnology (SCBT) CRISPR for HERC2
- GenScript: Design CRISPR guide RNA sequences for HERC2
miRNA for HERC2 Gene
- miRTarBase miRNAs that target HERC2
-
- hsa-mir-1-3p (MIRT023773)
- hsa-mir-192-5p (MIRT026472)
- hsa-mir-877-3p (MIRT037101)
- hsa-mir-193b-3p (MIRT041348)
- hsa-mir-196b-5p (MIRT042693)
- hsa-mir-1185-1-3p (MIRT440511)
- hsa-mir-544a (MIRT440512)
- hsa-mir-1185-2-3p (MIRT440513)
- hsa-mir-382-5p (MIRT440514)
- hsa-mir-382-3p (MIRT440515)
- hsa-mir-488-3p (MIRT497910)
- hsa-mir-4798-3p (MIRT497911)
miRNA Products
- Search ViGene Biosciences for HERC2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HERC2
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-
ViGene Biosciences ready-to-package AAV shRNAs for HERC2 gene
Clone Products
-
OriGene ORF clones in human for HERC2
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Cell Line Products
-
Horizon Cell Lines for HERC2
-
ViGene Biosciences adenoviral particle packaged cDNA for HERC2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for HERC2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for HERC2 gene
Flow Cytometry Products
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for HERC2 Gene
Localization for HERC2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HERC2 Gene
- Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Nucleus. Note=Recruited to sites of DNA damage in response to ionizing radiation (IR) via its interaction with RNF8. May loose association with centrosomes during mitosis.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 3 |
| mitochondrion | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 20304803 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IEA,IDA | 20304803 |
| GO:0005743 | mitochondrial inner membrane | IEA | -- |
| GO:0005814 | centriole | IEA | -- |
Pathways & Interactions for HERC2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DNA Double-Strand Break Repair |
.53
|
|
| 2 | Class I MHC mediated antigen processing and presentation | ||
| 3 | DNA Double Strand Break Response | ||
| 4 | SUMOylation |
.95
|
|
| 5 | Cell Cycle Checkpoints |
.84
|
|
Pathways by source for HERC2 Gene
1 KEGG pathway for HERC2 Gene
UniProtKB/Swiss-Prot O95714-HERC2_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for HERC2 Gene
Selected Interacting proteins:
ENSP00000261609
O95714-HERC2_HUMAN
for HERC2 Gene via
STRING
MINT
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006281 | DNA repair | IEA | -- |
| GO:0006303 | double-strand break repair via nonhomologous end joining | TAS | -- |
| GO:0006886 | intracellular protein transport | NAS | 9949213 |
| GO:0006974 | cellular response to DNA damage stimulus | IEA,IDA | 22508508 |
| GO:0007283 | spermatogenesis | IEA | -- |
Drugs & Compounds for HERC2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Transcripts for HERC2 Gene
mRNA/cDNA for HERC2 Gene
- (10) REFSEQ mRNAs :
- (215) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for HERC2
-
Santa Cruz Biotechnology (SCBT) CRISPR for HERC2
- GenScript: Design CRISPR guide RNA sequences for HERC2
miRNA Products
- Search ViGene Biosciences for HERC2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for HERC2
- Browse OriGene Inhibitory RNA Products For HERC2
-
ViGene Biosciences ready-to-package AAV shRNAs for HERC2 gene
Clone Products
-
OriGene ORF clones in human for HERC2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Addgene plasmids for HERC2
Flow Cytometry Products
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||
| SP2: |
Expression for HERC2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Skeletal Muscle (Muscoskeletal System)
-
Blood (Hematopoietic System)
- pre Conventional Dendritic Cells Peripheral Blood
-
Gonad (Reproductive System)
- Primordial Germ Cells Primitive Gonad
- Eye (Sensory Organs)
This gene is overexpressed in Plasma (13.8), Stomach (11.9), Placenta (8.7), Testis (8.6), and Pancreatic juice (6.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HERC2 Gene
NURSA nuclear receptor signaling pathways regulating expression of HERC2 Gene:
HERC2SOURCE GeneReport for Unigene cluster for HERC2 Gene:
Hs.434890Evidence on tissue expression from TISSUES for HERC2 Gene
- Nervous system(4.8)
- Liver(4)
- Lung(3.9)
- Intestine(2.7)
- Eye(2.4)
- Pancreas(2.2)
- Skin(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HERC2 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- digestive
- integumentary
- nervous
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cranial nerve
- eye
- head
- jaw
- mandible
- maxilla
- mouth
- skull
- tooth
Limb:
- foot
- lower limb
General:
- peripheral nerve
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for HERC2
No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for HERC2 Gene
Orthologs for HERC2 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | HERC2 35 |
|
OneToOne | |
| LOC453257 34 |
|
||||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HERC2 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | HERC2 35 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | HERC2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | HERC2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Herc2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Herc2 34 |
|
||
| chicken (Gallus gallus) |
Aves | HERC2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | HERC2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | herc2 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | herc2 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | HERC2 36 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011823 34 |
|
||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SAF1 37 |
|
|
|
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.11556 34 |
|
- Species where no ortholog for HERC2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for HERC2 Gene
(8) SIMAP similar genes for HERC2 Gene using alignment to 6 proteins:
Pseudogenes.org Pseudogenes for HERC2 Gene
Variants for HERC2 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for HERC2 Gene
- HERC2_HUMAN-O95714
- Genetic variants in HERC2 define the skin/hair/eye pigmentation variation locus 1 (SHEP1) [MIM:227220]; also known as skin/hair/eye pigmentation type 1, blue/nonblue eyes or skin/hair/eye pigmentation type 1, blue/brown eyes or skin/hair/eye pigmentation type 1, blond/brown hair or eye color, brown/blue or eye color, blue/nonblue or eye color type 3 (EYCL3) or brown eye color type 2 (BEY2) or hair color type 3 (HCL3). Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.
| SNP ID | Clin | Chr 15 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs397518474 | Pathogenic, Mental retardation, autosomal recessive 38 (MRT38) [MIM:615516] | 28,265,707(-) | CATTC(C/T)GATGC | intron-variant, nc-transcript-variant, reference, missense | |
| rs1057518934 | Pathogenic | 28,211,095(-) | ACATC(-/C)TGAAA | nc-transcript-variant, reference, frameshift-variant | |
| rs1057518478 | Uncertain significance | 28,214,143(-) | GCTCA(C/T)CAACA | nc-transcript-variant, upstream-variant-2KB, reference, missense | |
| rs146366728 | Uncertain significance | 28,198,757(+) | TCTAA(C/T)CATCA | nc-transcript-variant, reference, missense | |
| rs200632307 | Uncertain significance | 28,255,999(+) | AAACT(G/T)AAATA | intron-variant |
Residual Variation Intolerance Score:
0.163% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
8.57;
86.09% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for HERC2 Gene
Disorders for HERC2 Gene
(1) MalaCards diseases for HERC2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mental retardation, autosomal recessive 38 |
|
|
Search HERC2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
HERC2_HUMAN- Mental retardation, autosomal recessive 38 (MRT38) [MIM:615516]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT38 is characterized by global developmental delay affecting motor, speech, adaptive, and social development. Patients manifest autistic features, aggression, self-injury, impulsivity, and distractibility. {ECO:0000269 PubMed:23065719}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for HERC2
No data available for Genatlas for HERC2 Gene
Publications for HERC2 Gene
- Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. (PMID: 18252221) Kayser M. … van Duijn C.M. (Am. J. Hum. Genet. 2008) 3 4 46 64
- The ancestral gene for transcribed, low-copy repeats in the Prader- Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities. (PMID: 9949213) Ji Y. … Nicholls R.D. (Hum. Mol. Genet. 1999) 2 3 4 64
- Interaction proteomics identify NEURL4 and the HECT E3 ligase HERC2 as novel modulators of centrosome architecture. (PMID: 22261722) Al-Hakim A.K. … Pelletier L. (Mol. Cell. Proteomics 2012) 3 4 64
- DNA damage-inducible SUMOylation of HERC2 promotes RNF8 binding via a novel SUMO-binding Zinc finger. (PMID: 22508508) Danielsen J.R. … Mailand N. (J. Cell Biol. 2012) 3 4 64
- A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. (PMID: 23065719) Puffenberger E.G. … Strauss K.A. (Hum. Mutat. 2012) 3 4 64
Products for HERC2 Gene
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- Search GeneTex for Antibodies for HERC2
- Search GeneTex for Proteins for HERC2
- ViGene Biosciences adenoviral particle packaged cDNA for HERC2 gene
- ViGene Biosciences lentiviral particle packaged cDNA for HERC2 gene
- ViGene Biosciences ready-to-package AAV shRNAs for HERC2 gene
- Search ViGene Biosciences for HERC2
- Santa Cruz Biotechnology (SCBT) Antibodies for HERC2
- Search Santa Cruz Biotechnology (SCBT) for HERC2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for HERC2
- Horizon Cell Lines for HERC2
- Cyagen custom Knockout/knockin (KOKI) mouse models for HERC2
- VectorBuilder custom plasmid, inducible vectors for HERC2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for HERC2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for HERC2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer