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Aliases for MYCBP2 Gene

Aliases for MYCBP2 Gene

  • MYC Binding Protein 2, E3 Ubiquitin Protein Ligase 2 3
  • PAM 3 4 6
  • Protein Associated With Myc 3 4
  • Pam/Highwire/Rpm-1 Protein 3 4
  • Myc-Binding Protein 2 3 4
  • KIAA0916 4 6
  • Probable E3 Ubiquitin-Protein Ligase MYCBP2 3
  • E3 Ubiquitin-Protein Ligase MYCBP2 3
  • MYC Binding Protein 2 2
  • EC 6.3.2.- 4

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. Among its related pathways are Integrated Breast Cancer Pathway. GO annotations related to this gene include protein homodimerization activity and ubiquitin-protein transferase 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

Regulatory Elements for MYCBP2 Gene

Genomic Location for MYCBP2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYCBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYCBP2 Gene

Proteins for MYCBP2 Gene

  • 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. Interacts with TSC2 (tuberin) when TSC2 is in complex with TSC1 (hamartin). Interacts with FBXO45.
    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

Proteomics data for MYCBP2 Gene at MOPED

Post-translational modifications for MYCBP2 Gene

Other Protein References for MYCBP2 Gene

No data available for DME Specific Peptides for MYCBP2 Gene

Domains for MYCBP2 Gene

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 :
  • O75592
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

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:0004842 ubiquitin-protein transferase activity IEA --
GO:0005488 binding --
GO:0005515 protein binding IPI 22357847
GO:0008270 zinc ion binding IEA --
GO:0016874 ligase activity 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:

No data available for Transcription Factor Targeting and HOMER Transcription for MYCBP2 Gene

Localization for MYCBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYCBP2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYCBP2 Gene COMPARTMENTS Subcellular localization image for MYCBP2 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for MYCBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0015630 microtubule cytoskeleton IEA --
GO:0016020 membrane IDA 19946888
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with MYCBP2: view

Pathways 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:0008045 motor neuron axon guidance --
GO:0016567 protein ubiquitination IEA --
GO:0021785 branchiomotor neuron axon guidance IEA --
genes like me logo Genes that share ontologies with MYCBP2: view

Compounds for MYCBP2 Gene

(4) HMDB Compounds for MYCBP2 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine monophosphate
  • 5'-AMP
61-19-8
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
Phosphoric acid
  • acide phosphorique (FRENCH)
7664-38-2
Pyrophosphate
  • (4-)Diphosphoric acid ion
14000-31-8
genes like me logo Genes that share compounds with MYCBP2: view

Transcripts for MYCBP2 Gene

Unigene Clusters for MYCBP2 Gene

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

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

mRNA expression in normal human tissues for MYCBP2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for MYCBP2 Gene

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 expressions with MYCBP2: view

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
chimpanzee
(Pan troglodytes)
Mammalia MYCBP2 35
  • 99.73 (n)
  • 99.91 (a)
MYCBP2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYCBP2 35
  • 92.23 (n)
  • 98.43 (a)
MYCBP2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYCBP2 35
  • 94.03 (n)
  • 98.65 (a)
MYCBP2 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mycbp2 35
  • 89.94 (n)
  • 97.17 (a)
Mycbp2 16
Mycbp2 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYCBP2 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 75 (a)
OneToMany
-- 36
  • 100 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
-- 36
OneToMany
-- 36
  • 91 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
-- 36
  • 92 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Mycbp2 35
  • 88.97 (n)
  • 96.68 (a)
chicken
(Gallus gallus)
Aves MYCBP2 35
  • 83.9 (n)
  • 94.59 (a)
MYCBP2 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYCBP2 36
  • 90 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.3526 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12300 35
zebrafish
(Danio rerio)
Actinopterygii Dr.17163 35
mycbp2 35
  • 72.88 (n)
  • 84.6 (a)
mycbp2 36
  • 86 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011177 35
  • 29.1 (n)
  • 12.11 (a)
fruit fly
(Drosophila melanogaster)
Insecta hiw 35
  • 50.09 (n)
  • 46.47 (a)
hiw 36
  • 35 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F07B7.12 36
  • 26 (a)
OneToMany
rpm-1 35
  • 45.62 (n)
  • 32.81 (a)
rpm-1 36
  • 29 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4977 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 41 (a)
OneToOne
Species with no ortholog for MYCBP2:
  • 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

Selected 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 MAF
rs11400 -- 77,097,740(-) AAAAC(C/T)GAGAC reference, synonymous-codon
rs383659 -- 77,063,964(+) TAACC(G/T)AAGCA intron-variant
rs445080 -- 77,046,882(-) TGCAG(C/T)GTGAT intron-variant
rs624575 -- 77,048,683(+) ACTCG(C/T)AGATT intron-variant
rs670513 -- 77,050,023(+) TTTTT(A/T)AACTG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832653 CNV Loss 17160897
dgv575e1 CNV Complex 17122850
esv2515250 CNV Insertion 19546169
esv1226195 CNV Insertion 17803354
nsv528143 CNV Loss 19592680

Relevant External Links for MYCBP2 Gene

HapMap Linkage Disequilibrium report
MYCBP2
Human Gene Mutation Database (HGMD)
MYCBP2

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

Disorders for MYCBP2 Gene

Relevant External Links for MYCBP2

Genetic Association Database (GAD)
MYCBP2
Human Genome Epidemiology (HuGE) Navigator
MYCBP2
genes like me logo Genes that share disorders with MYCBP2: view

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

Publications for MYCBP2 Gene

  1. 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
  2. The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A. … Ross M.T. (Nature 2004) 2 3 4
  3. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10048485) Nagase T. … Ohara O. (DNA Res. 1998) 3 4
  4. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang Q.-H. … Chen Z. (Genome Res. 2000) 3 4
  5. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D. … Nagase T. (DNA Res. 2002) 3 4

Products for MYCBP2 Gene

Sources for MYCBP2 Gene

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