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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
External Ids for MYCBP2 Gene
- HGNC: 23386
- Entrez Gene: 23077
- Ensembl: ENSG00000005810
- OMIM: 610392
- UniProtKB: O75592
Previous GeneCards Identifiers for MYCBP2 Gene
- GC13M075417
- GC13M076517
- GC13M077618
- GC13M058316
Summaries 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).
Additional gene information for MYCBP2 Gene
- HGNC(23386)
- Entrez Gene(23077)
- Ensembl(ENSG00000005810)
- OMIM(610392)
- UniProtKB(O75592)
- Open Targets Platform(ENSG00000005810)
- Monarch Initiative
- Search for MYCBP2 at DataMed
- Search for MYCBP2 at HumanCyc
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
- 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:
-
- 13q22.3 by HGNC
- 13q22.3 by Entrez Gene
- 13q22.3 by Ensembl
MYCBP2 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 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
- 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};
Protein Expression for MYCBP2 Gene
Post-translational modifications for MYCBP2 Gene
- Autoubiquitinated.
-
Ubiquitination at Lys1046, Lys2132, and Lys3788
- NX_O75592 (NX_O75592-1)
- Modification sites at PhosphoSitePlus
Other Protein References for MYCBP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005266356.1
- XP_006719842.1
- XP_006719843.1
- XP_006719844.1
- XP_006719845.1
- XP_006719846.1
- XP_006719847.1
- XP_006719848.1
- XP_006719849.1
- XP_006719850.1
- XP_006719851.1
- XP_006719852.1
- XP_011533306.1
- XP_011533307.1
- XP_016875943.1
- XP_016875944.1
- XP_016875945.1
- XP_016875946.1
- XP_016875947.1
- XP_016875948.1
- XP_016875949.1
- XP_016875950.1
- XP_016875951.1
- XP_016875952.1
- XP_016875953.1
- XP_016875954.1
- XP_016875955.1
- XP_016875956.1
- XP_016875957.1
- NP_055872.4
Antibody Products
- Creative Diagnostics Anti-MYCBP2 (aa 2425-2475) polyclonal antibody
- Novus Biologicals Antibodies for MYCBP2
-
Abcam antibodies for MYCBP2
- Invitrogen Antibodies for MYCBP2 (AFLGC-MYCBP2)
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for MYCBP2
- Origene Custom Protein Services for MYCBP2
- Novus Biologicals proteins for MYCBP2
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
- InterPro:
- Blocks:
-
- Zn-finger, RING
- Regulator of chromosome condensation, RCC1
- ProtoNet:
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
O75592UniProtKB/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.
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
| 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 | -- |
Phenotypes for MYCBP2 Gene
- MGI mutant phenotypes for MYCBP2:
- inferred from 7 alleles
- GenomeRNAi human phenotypes for MYCBP2:
Animal Models for MYCBP2 Gene
- MGI Knock Outs for MYCBP2:
-
- Mycbp2 Mycbp2<tm1.1Adia>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MYCBP2 - Select products 50% OFF >
- * MYCBP2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MYCBP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MYCBP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYCBP2
miRNA for MYCBP2 Gene
- miRTarBase miRNAs that target MYCBP2
-
- mmu-miR-34b-5p (MIRT012719)
- mmu-miR-136-5p (MIRT014843)
- hsa-miR-21-5p (MIRT030878)
- hsa-miR-15b-5p (MIRT046460)
- hsa-miR-183-5p (MIRT047123)
- hsa-miR-148a-3p (MIRT048035)
- hsa-miR-196a-5p (MIRT048178)
- hsa-miR-17-5p (MIRT050846)
- hsa-miR-377-3p (MIRT440167)
- hsa-miR-487a-3p (MIRT440168)
- hsa-miR-493-3p (MIRT440169)
- hsa-miR-6083 (MIRT721107)
- hsa-miR-4795-3p (MIRT721108)
- hsa-miR-496 (MIRT721109)
- hsa-miR-4742-3p (MIRT721110)
- hsa-miR-126-5p (MIRT721111)
- hsa-miR-606 (MIRT721112)
- hsa-miR-92a-3p (MIRT732768)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MYCBP2
- Browse OriGene Inhibitory RNA Products For MYCBP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYCBP2
Clone Products
- Applied Biological Materials (abm): Clones for MYCBP2 - Select products 50% OFF >
- * MYCBP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MYCBP2
Cell Line Products
-
Horizon Cell Lines 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}.
| 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 |
- Nucleoplasm (3)
- Vesicles (2)
| 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 | -- |
Pathways & Interactions for MYCBP2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Integrated Breast Cancer Pathway | ||
Pathways by source for MYCBP2 Gene
1 BioSystems pathway for MYCBP2 Gene
UniProtKB/Swiss-Prot O75592-MYCB2_HUMAN
- Pathway: Protein modification; protein ubiquitination.
Interacting Proteins for MYCBP2 Gene
Selected Interacting proteins:
O75592-MYCB2_HUMAN
ENSP00000444596
for MYCBP2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for MYCBP2
| 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 |
Drugs & Compounds for MYCBP2 Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
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 :
-
- ENST00000357337 14736 nts (view in UCSC)
- ENST00000429715 3660 nts (view in UCSC)
- ENST00000462987 463 nts (view in UCSC)
- ENST00000466564 364 nts (view in UCSC)
- ENST00000474882 393 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MYCBP2 - Select products 50% OFF >
- * MYCBP2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MYCBP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MYCBP2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYCBP2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MYCBP2
- Browse OriGene Inhibitory RNA Products For MYCBP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYCBP2
Clone Products
- Applied Biological Materials (abm): Clones for MYCBP2 - Select products 50% OFF >
- * MYCBP2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MYCBP2
| 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
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MYCBP2
SOURCE GeneReport for Unigene cluster for MYCBP2 Gene:
Hs.591221mRNA 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)
Primer Products
-
OriGene qPCR primer pairs for MYCBP2
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Chimpanzee (Pan troglodytes) |
Mammalia | MYCBP2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MYCBP2 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | MYCBP2 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MYCBP2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Mycbp2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mycbp2 30 |
|
||
| Chicken (Gallus gallus) |
Aves | MYCBP2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MYCBP2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.3526 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | mycbp2 30 31 |
|
OneToOne | |
| Dr.17163 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12300 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | hiw 30 31 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011177 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | rpm-1 30 31 |
|
OneToMany | |
| F07B7.12 31 |
|
OneToMany | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
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
(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
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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYCBP2 Gene
Disorders for MYCBP2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| reticulate acropigmentation of kitamura |
|
|
| pelizaeus-merzbacher disease |
|
|
| hypomyelinating leukodystrophy |
|
|
| cerebral degeneration |
|
|
| breast cancer |
|
|
Search MYCBP2 in MalaCards
View complete list of genes associated with diseases
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
No data available for UniProtKB/Swiss-Prot and Genatlas for MYCBP2 Gene
Publications for MYCBP2 Gene
- The DNA sequence and analysis of human chromosome 13. (PMID: 15057823) Dunham A … Ross MT (Nature 2004) 2 3 4
- 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
- Activity-based E3 ligase profiling uncovers an E3 ligase with esterification activity. (PMID: 29643511) Pao KC … Virdee S (Nature 2018) 3 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
- 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
ExternalLinks
Products for MYCBP2 Gene
- Browse OriGene Antibodies
- Custom Antibody Services
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- Origene shrna, sirna, and RNAi products in human, mouse, rat for MYCBP2
- Browse OriGene Inhibitory RNA Products For MYCBP2
- OriGene qPCR primer pairs for MYCBP2
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For MYCBP2
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- High-throughput Antibody Production Service
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- Novus Biologicals proteins for MYCBP2
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- Invitrogen Antibodies for MYCBP2 (AFLGC-MYCBP2)
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- VectorBuilder Virus packaging for MYCBP2 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for MYCBP2
- antibodies-online: Show 17 available MYCBP2 Antibodies ranked by validation data
- Compare Top MYCBP2 Antibodies
- antibodies-online: Search results for available MYCBP2 related products ranked by validation data
- antibodies-online: Search results for available MYCBP2 related products ranked by validation data
- Browse Santa Cruz Biotechnology (SCBT) Antibodies
- Search Santa Cruz Biotechnology (SCBT) for MYCBP2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for MYCBP2
- Horizon Cell Lines for MYCBP2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MYCBP2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MYCBP2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for MYCBP2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MYCBP2
Sources for MYCBP2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB