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MYCBP2 Gene(Protein Coding)

MYC Binding Protein 2, E3 Ubiquitin Protein Ligase

GCID:
GC13M077044
GIFtS:
53
Genes Participants
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Aliases for MYCBP2 Gene

Aliases for MYCBP2 Gene

  • MYC Binding Protein 2, E3 Ubiquitin Protein Ligase 2 3 5
  • Protein Associated With Myc 3 4
  • Pam/Highwire/Rpm-1 Protein 3 4
  • Myc-Binding Protein 2 3 4
  • PAM 3 4
  • Probable E3 Ubiquitin-Protein Ligase MYCBP2 3
  • E3 Ubiquitin-Protein Ligase MYCBP2 3
  • MYC Binding Protein 2 2
  • EC 6.3.2.- 4
  • Highwire 3
  • KIAA0916 4
  • Myc-Bp2 3
  • Phr 3

External Ids for MYCBP2 Gene

Previous GeneCards Identifiers for MYCBP2 Gene

  • GC13M075417
  • GC13M076517
  • GC13M077618
  • GC13M058316

Summaries for MYCBP2 Gene

GeneCards Summary for MYCBP2 Gene

MYCBP2 (MYC Binding Protein 2, E3 Ubiquitin Protein Ligase) is a Protein Coding gene. Diseases associated with MYCBP2 include Ecthyma and Reticulate Acropigmentation Of Kitamura. Among its related pathways are Integrated Breast Cancer Pathway. GO annotations related to this gene include protein homodimerization activity and ligase activity.

UniProtKB/Swiss-Prot for MYCBP2 Gene

  • E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of TSC2/tuberin. Interacts with the E2 enzymes UBE2D1, UBE2D3 and UBE2L3 (in vitro). May function as a facilitator or regulator of transcriptional activation by MYC. May have a role during synaptogenesis.

Gene Wiki entry for MYCBP2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYCBP2 Gene

Genomics for MYCBP2 Gene

Products:

  1. Regulatory Element

Regulatory Elements for MYCBP2 Gene

Enhancers for MYCBP2 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
GH13F077429 1.2 FANTOM5 ENCODE 12.7 -102.8 -102842 1.6 TBP PKNOX1 BMI1 CBX5 ZNF143 ZNF207 ETV6 CREM EGR2 CBFB MYCBP2 LOC105370271
GH13F077477 1.2 Ensembl ENCODE 12.1 -151.3 -151280 1.6 TBP PKNOX1 ATF1 TBL1XR1 ZNF2 RAD21 YY1 GTF3C2 ZNF366 RCOR1 MYCBP2 LOC105370271 SCEL
GH13F077297 0.8 Ensembl ENCODE 13.8 +27.5 27450 4.4 ZNF316 BHLHE40 FOS MAFK SPI1 MYCBP2 CLN5 MYCBP2-AS1 GC13P077273
GH13F077324 1.4 FANTOM5 ENCODE 6.4 +0.7 746 3.1 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CLN5 MYCBP2-AS2 MYCBP2 FBXL3 KCTD12 GC13P077273
GH13F077459 0.8 Ensembl ENCODE 11.1 -133.2 -133152 0.8 MTA2 IKZF1 RAD21 MYC SPI1 YY1 MYCBP2 LOC105370271
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYCBP2 on UCSC Golden Path with GeneCards custom track

Promoters for MYCBP2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000517973 850 3201 HDGF PKNOX1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Transcription factor binding sites by QIAGEN in the MYCBP2 gene promoter:

Genomic Location for MYCBP2 Gene

Chromosome:
13
Start:
77,044,655 bp from pter
End:
77,327,050 bp from pter
Size:
282,396 bases
Orientation:
Minus strand

Genomic View for MYCBP2 Gene

Genes around MYCBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYCBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYCBP2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for MYCBP2 Gene

Proteins for MYCBP2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for MYCBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75592-MYCB2_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase MYCBP2
    Protein Accession:
    O75592
    Secondary Accessions:
    • A6NJC6
    • Q5JSX8
    • Q5VZN6
    • Q6PIB6
    • Q9UQ11
    • Q9Y6E4

    Protein attributes for MYCBP2 Gene

    Size:
    4640 amino acids
    Molecular mass:
    510084 Da
    Quaternary structure:
    • Interacts with MYC (PubMed:9689053). Interacts with TSC2 (tuberin) when TSC2 is in complex with TSC1 (hamartin) (PubMed:14559897). Interacts with FBXO45 (PubMed:19398581). Interacts with RAE1 (PubMed:22357847). Interacts with CPNE1 (via VWFA domain) and CPNE4 (via VWFA domain) (By similarity).
    SequenceCaution:
    • Sequence=AAD39842.1; Type=Frameshift; Positions=4636; Evidence={ECO:0000305}; Sequence=AAH37971.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI39758.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Alternative splice isoforms for MYCBP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYCBP2 Gene

Protein Expression for MYCBP2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for MYCBP2 Gene

Other Protein References for MYCBP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MYCBP2 Gene

Domains & Families for MYCBP2 Gene

Protein Domains for MYCBP2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MYCBP2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75592

UniProtKB/Swiss-Prot:

MYCB2_HUMAN :
  • The PHR domains are compact beta-sandwich folds composed of 11 antiparallel strands and decorated with conserved apical loops. They are likely to play a structural role and mediate interactions with substrates or partners (By similarity).
  • Belongs to the highwire family.
  • Contains 1 B box-type zinc finger.
Domain:
  • The PHR domains are compact beta-sandwich folds composed of 11 antiparallel strands and decorated with conserved apical loops. They are likely to play a structural role and mediate interactions with substrates or partners (By similarity).
  • Contains 1 DOC domain.
Family:
  • Belongs to the highwire family.
Similarity:
  • Contains 1 B box-type zinc finger.
  • Contains 1 filamin repeat.
  • Contains 5 RCC1 repeats.
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with MYCBP2: view

No data available for Gene Families for MYCBP2 Gene

Function for MYCBP2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for MYCBP2 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase which mediates ubiquitination and subsequent proteasomal degradation of TSC2/tuberin. Interacts with the E2 enzymes UBE2D1, UBE2D3 and UBE2L3 (in vitro). May function as a facilitator or regulator of transcriptional activation by MYC. May have a role during synaptogenesis.

Enzyme Numbers (IUBMB) for MYCBP2 Gene

Gene Ontology (GO) - Molecular Function for MYCBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15161933
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MYCBP2: view
genes like me logo Genes that share phenotypes with MYCBP2: view

Animal Models for MYCBP2 Gene

MGI Knock Outs for MYCBP2:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYCBP2 Gene

Localization for MYCBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYCBP2 Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYCBP2 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 1

Gene Ontology (GO) - Cellular Components for MYCBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with MYCBP2: view

Pathways & Interactions for MYCBP2 Gene

genes like me logo Genes that share pathways with MYCBP2: view

Pathways by source for MYCBP2 Gene

1 BioSystems pathway for MYCBP2 Gene

UniProtKB/Swiss-Prot O75592-MYCB2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for MYCBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with MYCBP2: view

No data available for SIGNOR curated interactions for MYCBP2 Gene

Drugs & Compounds for MYCBP2 Gene

Products:

  1. Drug

(3) Drugs for MYCBP2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved Nutra 0
Adenosine triphosphate Approved Nutra 0

(1) Additional Compounds for MYCBP2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
 14000-31-8
genes like me logo Genes that share compounds with MYCBP2: view

Transcripts for MYCBP2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for MYCBP2 Gene

(30) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(270) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYCBP2 Gene

MYC binding protein 2, E3 ubiquitin protein ligase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MYCBP2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: -
SP2:
SP3:
SP4: -
SP5:
SP6:

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b ^ 32
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:

Relevant External Links for MYCBP2 Gene

GeneLoc Exon Structure for
MYCBP2
ECgene alternative splicing isoforms for
MYCBP2

Expression for MYCBP2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MYCBP2 Gene

mRNA expression in normal human tissues for MYCBP2 Gene
mRNA expression by BioGPS for MYCBP2 GenemRNA expression by GTEx for MYCBP2 Gene

Protein differential expression in normal tissues from HIPED for MYCBP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (35.4) and Testis (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MYCBP2 Gene



Protein tissue co-expression partners for MYCBP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MYCBP2 Gene:

MYCBP2

SOURCE GeneReport for Unigene cluster for MYCBP2 Gene:

Hs.591221

mRNA Expression by UniProt/SwissProt for MYCBP2 Gene:

O75592-MYCB2_HUMAN
Tissue specificity: Expressed in all tissues examined, expression is exceptionally abundant in brain and thymus. Colocalizes with TSC1 and TSC2 along the neurites and in the growth cones. Colocalized with TSC1 in one of the filopodial extensions at the tip of a growth cone.
genes like me logo Genes that share expression patterns with MYCBP2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for MYCBP2 Gene

Orthologs for MYCBP2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYCBP2 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 100 (a)
 OneToMany
-- 35
  • 92 (a)
 OneToMany
-- 35
  • 92 (a)
 OneToMany
-- 35
  • 91 (a)
 OneToMany
-- 35
  • 90 (a)
 OneToMany
-- 35
  • 75 (a)
 OneToMany
-- 35
OneToMany
chimpanzee
(Pan troglodytes)
 Mammalia MYCBP2 34 35
  • 99.73 (n)
dog
(Canis familiaris)
 Mammalia MYCBP2 34 35
  • 94.03 (n)
oppossum
(Monodelphis domestica)
 Mammalia MYCBP2 35
  • 93 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia MYCBP2 34 35
  • 92.23 (n)
mouse
(Mus musculus)
 Mammalia Mycbp2 34 16 35
  • 89.94 (n)
rat
(Rattus norvegicus)
 Mammalia Mycbp2 34
  • 88.97 (n)
chicken
(Gallus gallus)
 Aves MYCBP2 34 35
  • 83.9 (n)
lizard
(Anolis carolinensis)
 Reptilia MYCBP2 35
  • 90 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia Str.3526 34
zebrafish
(Danio rerio)
 Actinopterygii mycbp2 34 35
  • 72.88 (n)
Dr.17163 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.12300 34
fruit fly
(Drosophila melanogaster)
 Insecta hiw 34 35
  • 50.09 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011177 34
  • 29.1 (n)
worm
(Caenorhabditis elegans)
 Secernentea rpm-1 34 35
  • 45.62 (n)
F07B7.12 35
  • 26 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 41 (a)
 OneToOne
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.4977 34
Species where no ortholog for MYCBP2 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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)

Evolution for MYCBP2 Gene

ENSEMBL:
Gene Tree for MYCBP2 (if available)
TreeFam:
Gene Tree for MYCBP2 (if available)

Paralogs for MYCBP2 Gene

(3) SIMAP similar genes for MYCBP2 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for MYCBP2 Gene

genes like me logo Genes that share paralogs with MYCBP2: view

No data available for Paralogs for MYCBP2 Gene

Variants for MYCBP2 Gene

Sequence variations from dbSNP and Humsavar for MYCBP2 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs193920951 Uncertain significance 77,126,432(-) GGCAT(A/C/G)TACAA intron-variant, reference, missense
rs386352333 Uncertain significance 77,051,078(-) GAACA(A/G)CACAT reference, missense
rs10400634 -- 77,187,075(+) AAAGT(A/G)CTGGG intron-variant
rs1041242 -- 77,194,037(-) CAAAT(A/G)CTTGA intron-variant
rs10467631 -- 77,186,937(+) CTCCC(A/G)AGCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MYCBP2 Gene

Variant ID Type Subtype PubMed ID
nsv832653 CNV loss 17160897
nsv528143 CNV loss 19592680
nsv1148797 CNV duplication 26484159
nsv1039620 CNV gain 25217958
nsv1037653 CNV loss 25217958
esv3550737 CNV deletion 23714750
esv2759951 CNV loss 17122850
esv2515250 CNV insertion 19546169
esv1226195 CNV insertion 17803354

Variation tolerance for MYCBP2 Gene

Gene Damage Index Score: 4.67; 65.85% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYCBP2 Gene

Human Gene Mutation Database (HGMD)
MYCBP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYCBP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYCBP2 Gene

Disorders for MYCBP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MYCBP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ecthyma
reticulate acropigmentation of kitamura
  • rapk
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for MYCBP2

Genetic Association Database (GAD)
MYCBP2
Human Genome Epidemiology (HuGE) Navigator
MYCBP2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYCBP2
genes like me logo Genes that share disorders with MYCBP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYCBP2 Gene

Publications for MYCBP2 Gene

  1. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 2 3 4 64
  2. Identification of a large Myc-binding protein that contains RCC1-like repeats. (PMID: 9689053) Guo Q. … Bishop J.M. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 64
  3. RAE-1, a novel PHR binding protein, is required for axon termination and synapse formation in Caenorhabditis elegans. (PMID: 22357847) Grill B. … Garner C.C. (J. Neurosci. 2012) 3 4 64
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64
  5. Fbxo45 forms a novel ubiquitin ligase complex and is required for neuronal development. (PMID: 19398581) Saiga T. … Nakayama K.I. (Mol. Cell. Biol. 2009) 3 4 64

Products for MYCBP2 Gene

Sources for MYCBP2 Gene

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