This gene encodes an E3 ubiquitin-protein ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of proteins. The encoded protein plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this protein regulates the cAMP and mTOR signaling pathways, and may additionally regulate autophagy. Reduced expression of this ... See more...

Aliases for MYCBP2 Gene

Aliases for MYCBP2 Gene

  • MYC Binding Protein 2 2 3 5
  • PAM 2 3 4
  • MYC Binding Protein 2, E3 Ubiquitin Protein Ligase 2 3
  • E3 Ubiquitin-Protein Ligase MYCBP2 3 4
  • PAM/Highwire/RPM-1 Protein 1 2 3
  • Protein Associated With Myc 3 4
  • Myc-Binding Protein 2 3 4
  • KIAA0916 2 4
  • PHR1 2 3
  • RING-Type E3 Ubiquitin Transferase MYCBP2 3
  • Pam/Highwire/Rpm-1 Protein 3
  • EC 2.3.2.33 4
  • Highwire 3
  • FLJ10106 2
  • Myc-Bp2 3
  • MYCBP2 5
  • Phr 3

External Ids for MYCBP2 Gene

Previous GeneCards Identifiers for MYCBP2 Gene

  • GC13M075417
  • GC13M076517
  • GC13M077618
  • GC13M058316

Summaries for MYCBP2 Gene

Entrez Gene Summary for MYCBP2 Gene

  • This gene encodes an E3 ubiquitin-protein ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of proteins. The encoded protein plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this protein regulates the cAMP and mTOR signaling pathways, and may additionally regulate autophagy. Reduced expression of this gene has been observed in acute lymphoblastic leukemia patients and a mutation in this gene has been identified in patients with a rare inherited vision defect. [provided by RefSeq, Mar 2017]

GeneCards Summary for MYCBP2 Gene

MYCBP2 (MYC Binding Protein 2) is a Protein Coding gene. Diseases associated with MYCBP2 include Reticulate Acropigmentation Of Kitamura and Pelizaeus-Merzbacher Disease. Among its related pathways are Integrated Breast Cancer Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ligase activity. An important paralog of this gene is FBXO24.

UniProtKB/Swiss-Prot Summary for MYCBP2 Gene

  • Atypical E3 ubiquitin-protein ligase which specifically mediates ubiquitination of threonine and serine residues on target proteins, instead of ubiquitinating lysine residues (PubMed:29643511). Shows esterification activity towards both threonine and serine, with a preference for threonine, and acts via two essential catalytic cysteine residues that relay ubiquitin to its substrate via thioester intermediates (PubMed:29643511). Interacts with the E2 enzymes UBE2D1, UBE2D3, UBE2E1 and UBE2L3 (PubMed:18308511, PubMed:29643511). Plays a key role in neural development, probably by mediating ubiquitination of threonine residues on target proteins (Probable). Involved in different processes such as regulation of neurite outgrowth, synaptic growth, synaptogenesis and axon degeneration (By similarity). Required for the formation of major central nervous system axon tracts (By similarity). Required for proper axon growth by regulating axon navigation and axon branching: acts by regulating the subcellular location and stability of MAP3K12/DLK (By similarity). Required for proper localization of retinogeniculate projections but not for eye-specific segregation (By similarity). Regulates axon guidance in the olfactory system (By similarity). Involved in Wallerian axon degeneration, an evolutionarily conserved process that drives the loss of damaged axons: acts by promoting destabilization of NMNAT2, probably via ubiquitination of NMNAT2 (By similarity). Catalyzes ubiquitination of threonine and/or serine residues on NMNAT2, consequences of threonine and/or serine ubiquitination are however unknown (PubMed:29643511). Regulates the internalization of TRPV1 in peripheral sensory neurons (By similarity). Mediates ubiquitination and subsequent proteasomal degradation of TSC2/tuberin (PubMed:18308511, PubMed:27278822). Independently of the E3 ubiquitin-protein ligase activity, also acts as a guanosine exchange factor (GEF) for RAN in neurons of dorsal root ganglia (PubMed:26304119). May function as a facilitator or regulator of transcriptional activation by MYC (PubMed:9689053). Acts in concert with HUWE1 to regulate the circadian clock gene expression by promoting the lithium-induced ubiquination and degradation of NR1D1 (PubMed:20534529).

Gene Wiki entry for MYCBP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYCBP2 Gene

Genomics for MYCBP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MYCBP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J077323 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 606.3 -0.4 -386 7.4 SP1 HNRNPL GATAD2A TEAD4 PRDM10 ZNF629 REST TFE3 NFKBIZ RFX5 MYCBP2 LOC107984564 NONHSAG013815.2 lnc-SCEL-8 MYCBP2-AS1 CLN5 FBXL3 KCTD12 SCEL
GH13J077429 Enhancer 1.2 FANTOM5 Ensembl ENCODE 12.7 -102.7 -102744 1.7 SP1 BACH1 FOXA1 STAT3 ZNF143 RELA SMAD5 TCF12 IKZF2 POLR2A MYCBP2 piR-56341-048 piR-59769-160 SCEL
GH13J077477 Promoter/Enhancer 1.2 ENCODE CraniofacialAtlas 12.2 -151.2 -151231 1.6 CTCF PRDM10 REST ZNF629 LEF1 JUND PRDM1 ZNF143 ZSCAN4 RAD21 MYCBP2 piR-58297-142 HSALNG0098059 SCEL
GH13J077143 Enhancer 0.9 Ensembl ENCODE 10.6 +183.5 183498 0.8 CEBPG GATAD2A FOXA1 CEBPA ATF7 CEBPB CTBP1 NR3C1 FOXA2 ATF3 MYCBP2-AS2 MYCBP2 lnc-FBXL3-5 piR-35729-016 FBXL3
GH13J077460 Enhancer 0.8 Ensembl ENCODE 11.2 -133.9 -133903 3.2 POLR2A SP1 RAD21 RELB RUNX3 FOXA2 ATF3 YY1 JUND SPI1 lnc-SCEL-2 MYCBP2 MG828514 SCEL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYCBP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MYCBP2

Top Transcription factor binding sites by QIAGEN in the MYCBP2 gene promoter:
  • AML1a
  • AREB6
  • C/EBPalpha
  • CHOP-10
  • ER-alpha
  • HOXA3
  • ISGF-3
  • Meis-1
  • Meis-1a
  • Meis-1b

Genomic Locations for MYCBP2 Gene

Genomic Locations for MYCBP2 Gene
chr13:77,044,657-77,327,098
(GRCh38/hg38)
Size:
282,442 bases
Orientation:
Minus strand
chr13:77,618,792-77,901,185
(GRCh37/hg19)
Size:
282,394 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 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:
    4678 amino acids
    Molecular mass:
    513636 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). Interacts with (sumoylated) RANGAP1; interaction with sumoylated RANGAP1 inhibits E3 ubiquitin-protein ligase activity and promotes MYCBP2 translocation to the nucleus (PubMed:26304119). Interacts with RAN (PubMed:26304119). Interacts with RAN (PubMed:26304119). Interacts with ATP13A2; the interaction inhibits the ubiquitination of TSC2 by MYCBP2 (PubMed:27278822).
    SequenceCaution:
    • Sequence=AAD39842.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAH37971.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=CAI39758.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MYCBP2 Gene

    Alternative splice isoforms for MYCBP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYCBP2 Gene

Post-translational modifications for MYCBP2 Gene

No data available for DME Specific Peptides for MYCBP2 Gene

Domains & Families for MYCBP2 Gene

Gene Families for MYCBP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for MYCBP2 Gene

Suggested Antigen Peptide Sequences for MYCBP2 Gene

GenScript: Design optimal peptide antigens:
  • Protein associated with Myc (MYCB2_HUMAN)

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 RING-Cys relay (RCR) family.
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).
  • The tandem cysteine domain region confers threonine specificity and contains the two essential catalytic cysteine residues that relay ubiquitin. It binds four zinc ions in a C5HC7HC2 configuration.
Family:
  • Belongs to the RING-Cys relay (RCR) family.
genes like me logo Genes that share domains with MYCBP2: view

Function for MYCBP2 Gene

Molecular function for MYCBP2 Gene

UniProtKB/Swiss-Prot Function:
Atypical E3 ubiquitin-protein ligase which specifically mediates ubiquitination of threonine and serine residues on target proteins, instead of ubiquitinating lysine residues (PubMed:29643511). Shows esterification activity towards both threonine and serine, with a preference for threonine, and acts via two essential catalytic cysteine residues that relay ubiquitin to its substrate via thioester intermediates (PubMed:29643511). Interacts with the E2 enzymes UBE2D1, UBE2D3, UBE2E1 and UBE2L3 (PubMed:18308511, PubMed:29643511). Plays a key role in neural development, probably by mediating ubiquitination of threonine residues on target proteins (Probable). Involved in different processes such as regulation of neurite outgrowth, synaptic growth, synaptogenesis and axon degeneration (By similarity). Required for the formation of major central nervous system axon tracts (By similarity). Required for proper axon growth by regulating axon navigation and axon branching: acts by regulating the subcellular location and stability of MAP3K12/DLK (By similarity). Required for proper localization of retinogeniculate projections but not for eye-specific segregation (By similarity). Regulates axon guidance in the olfactory system (By similarity). Involved in Wallerian axon degeneration, an evolutionarily conserved process that drives the loss of damaged axons: acts by promoting destabilization of NMNAT2, probably via ubiquitination of NMNAT2 (By similarity). Catalyzes ubiquitination of threonine and/or serine residues on NMNAT2, consequences of threonine and/or serine ubiquitination are however unknown (PubMed:29643511). Regulates the internalization of TRPV1 in peripheral sensory neurons (By similarity). Mediates ubiquitination and subsequent proteasomal degradation of TSC2/tuberin (PubMed:18308511, PubMed:27278822). Independently of the E3 ubiquitin-protein ligase activity, also acts as a guanosine exchange factor (GEF) for RAN in neurons of dorsal root ganglia (PubMed:26304119). May function as a facilitator or regulator of transcriptional activation by MYC (PubMed:9689053). Acts in concert with HUWE1 to regulate the circadian clock gene expression by promoting the lithium-induced ubiquination and degradation of NR1D1 (PubMed:20534529).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[E2 ubiquitin-conjugating enzyme]-S-ubiquitinyl-L-cysteine + [acceptor protein]-L-threonine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-3-O-ubiquitinyl-L-threonine.; EC=2.3.2.33; Evidence={ECO:0000269|PubMed:29643511};.

Enzyme Numbers (IUBMB) for MYCBP2 Gene

Phenotypes From GWAS Catalog for MYCBP2 Gene

Gene Ontology (GO) - Molecular Function for MYCBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA,IDA 26304119
GO:0005515 protein binding IPI 15161933
GO:0008270 zinc ion binding IDA 29643511
GO:0008536 Ran GTPase binding IDA 26304119
GO:0016740 transferase 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:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYCBP2

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. Cell projection, axon. Cytoplasm, cytoskeleton. Note=Localizes to axon shafts and associates with microtubule cytoskeleton (By similarity). Translocates to the nucleus following interaction with sumoylated RANGAP1 (PubMed:26304119). {ECO:0000250 UniProtKB:Q7TPH6, ECO:0000269 PubMed:26304119}.

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
cytoskeleton 3
plasma membrane 2
extracellular 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MYCBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,IDA 26304119
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0015630 microtubule cytoskeleton IEA --
genes like me logo Genes that share ontologies with MYCBP2: view

Pathways & Interactions for MYCBP2 Gene

PathCards logo

SuperPathways 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.

SIGNOR curated interactions for MYCBP2 Gene

Activates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MYCBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008045 motor neuron axon guidance IEA --
GO:0016567 protein ubiquitination IMP 27278822
GO:0021785 branchiomotor neuron axon guidance IEA --
GO:0021952 central nervous system projection neuron axonogenesis IEA,ISS --
GO:0031398 positive regulation of protein ubiquitination IEA,IDA 20534529
genes like me logo Genes that share ontologies with MYCBP2: view

Drugs & Compounds for MYCBP2 Gene

(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, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with MYCBP2: view

Transcripts for MYCBP2 Gene

mRNA/cDNA for MYCBP2 Gene

1 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYCBP2

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

Expression for MYCBP2 Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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. Highly expressed in peripheral and central neurons. Colocalized with TSC1 in one of the filopodial extensions at the tip of a growth cone.

Evidence on tissue expression from TISSUES for MYCBP2 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Skin(2.9)
  • Kidney(2.9)
  • Spleen(2.5)
  • Intestine(2.4)
  • Blood(2.4)
  • Heart(2.4)
  • Lung(2.3)
  • Muscle(2.3)
  • Eye(2.3)
  • Lymph node(2.3)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with MYCBP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 -- 31
  • 100 (a)
OneToMany
-- 31
  • 92 (a)
OneToMany
-- 31
  • 92 (a)
OneToMany
-- 31
  • 91 (a)
OneToMany
-- 31
  • 90 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
-- 31
OneToMany
Chimpanzee
(Pan troglodytes)
Mammalia MYCBP2 30 31
  • 99.73 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MYCBP2 30 31
  • 94.03 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MYCBP2 31
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia MYCBP2 30 31
  • 92.23 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mycbp2 30 17 31
  • 89.94 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mycbp2 30
  • 88.97 (n)
Chicken
(Gallus gallus)
Aves MYCBP2 30 31
  • 83.9 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MYCBP2 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia Str.3526 30
Zebrafish
(Danio rerio)
Actinopterygii mycbp2 30 31
  • 72.88 (n)
OneToOne
Dr.17163 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12300 30
Fruit Fly
(Drosophila melanogaster)
Insecta hiw 30 31
  • 50.09 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011177 30
  • 29.1 (n)
Worm
(Caenorhabditis elegans)
Secernentea rpm-1 30 31
  • 45.62 (n)
OneToMany
F07B7.12 31
  • 26 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4977 30
Species where no ortholog for MYCBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for MYCBP2: view image

Paralogs for MYCBP2 Gene

Paralogs for MYCBP2 Gene

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

  • MYCB2_HUMAN
  • F8WA13_HUMAN
  • H7C3U4_HUMAN
  • J3KPZ3_HUMAN

Pseudogenes.org Pseudogenes for MYCBP2 Gene

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

Variants for MYCBP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MYCBP2 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
691448 Uncertain Significance: Pyloric stenosis; Esophageal atresia 77,206,744(-) C/G MISSENSE_VARIANT
713358 Benign: not provided 77,181,815(-) C/T SYNONYMOUS_VARIANT
718182 Likely Benign: not provided 77,055,554(-) A/T INTRON_VARIANT
721764 Benign: not provided 77,166,522(-) T/G SYNONYMOUS_VARIANT
722591 Likely Benign: not provided 77,326,774(-) A/C INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MYCBP2 Gene

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

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

Variation tolerance for MYCBP2 Gene

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

Additional Variant Information 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

(5) MalaCards diseases for MYCBP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
reticulate acropigmentation of kitamura
  • rak
pelizaeus-merzbacher disease
  • pmd
hypomyelinating leukodystrophy
  • hld
cerebral degeneration
  • brain degeneration
breast cancer
  • breast lobular carcinoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for MYCBP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 MT (Nature 2004) 2 3 4
  2. Identification of a large Myc-binding protein that contains RCC1-like repeats. (PMID: 9689053) Guo Q … Bishop JM (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4
  3. Activity-based E3 ligase profiling uncovers an E3 ligase with esterification activity. (PMID: 29643511) Pao KC … Virdee S (Nature 2018) 3 4
  4. The Parkinson's disease-associated genes ATP13A2 and SYT11 regulate autophagy via a common pathway. (PMID: 27278822) Bento CF … Rubinsztein DC (Nature communications 2016) 3 4
  5. MYCBP2 Is a Guanosine Exchange Factor for Ran Protein and Determines Its Localization in Neurons of Dorsal Root Ganglia. (PMID: 26304119) Dörr A … Scholich K (The Journal of biological chemistry 2015) 3 4

Products for MYCBP2 Gene

Sources for MYCBP2 Gene