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, 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. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ligase activity. An important paralog of this gene is IBTK.
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.
Additional gene information for MYCBP2 Gene
- Monarch Initiative
- Search for MYCBP2 at DataMed
- Search for MYCBP2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYCBP2 Gene
Genomics for MYCBP2 Gene
GeneHancer (GH) Regulatory Elements for MYCBP2 Gene
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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH13J077324 | Promoter/Enhancer | 2.5 | EPDnew FANTOM5 Ensembl ENCODE dbSUPER | 656.4 | +0.7 | 746 | 3.1 | HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 | MYCBP2 CLN5 FBXL3 KCTD12 GC13P077273 | |
| GH13J077429 | Enhancer | 1.1 | FANTOM5 ENCODE | 12.7 | -102.8 | -102841 | 1.6 | PKNOX1 SMAD1 BMI1 BATF KLF5 IRF4 ZNF207 ZNF143 ATF7 ETV6 | MYCBP2 LOC105370271 | |
| GH13J077477 | Enhancer | 1.1 | Ensembl ENCODE | 12.2 | -151.3 | -151279 | 1.6 | HDGF PKNOX1 ATF1 SIN3A ZNF2 YY1 GTF3C2 ZNF207 ZNF143 ZFP91 | MYCBP2 LOC105370271 SCEL | |
| GH13J077299 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 13.8 | +26.5 | 26487 | 1.7 | ZNF316 CEBPB FOSL2 FOS SPI1 | MYCBP2 CLN5 GC13P077273 | |
| GH13J077297 | Enhancer | 0.8 | Ensembl ENCODE dbSUPER | 13.3 | +28.7 | 28708 | 1.6 | IKZF2 SPI1 | MYCBP2 CLN5 MYCBP2-AS1 GC13P077273 |
- 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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the MYCBP2 gene promoter:
-
- Meis-1b
- Meis-1a
- Meis-1
- AREB6
- ISGF-3
- C/EBPalpha
- CHOP-10
- AML1a
- HOXA3
- ER-alpha
Regulatory Element Products
Genomic Locations for MYCBP2 Gene
Genomic Locations for MYCBP2 Gene
- chr13:77,044,655-77,327,050
- (GRCh38/hg38)
- Size:
- 282,396 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 Entrez Gene
- 13q22.3 by HGNC
- 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:
- 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};
Protein Expression for MYCBP2 Gene
Post-translational modifications for MYCBP2 Gene
- Autoubiquitinated.
- Ubiquitination at Lys3750, isoforms=22094, and Lys1008
- Modification sites at PhosphoSitePlus
Other Protein References for MYCBP2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_016875952.1
- XP_006719844.1
- XP_006719849.1
- XP_016875955.1
- XP_016875945.1
- XP_006719843.1
- XP_011533306.1
- XP_006719845.1
- XP_016875950.1
- XP_006719846.1
- XP_016875953.1
- XP_016875943.1
- NP_055872.4
- XP_005266356.1
- XP_011533307.1
- XP_016875948.1
- XP_016875956.1
- XP_016875946.1
- XP_006719847.1
- XP_006719850.1
- XP_016875951.1
- XP_006719848.1
- XP_016875949.1
- XP_016875954.1
- XP_016875944.1
- XP_006719851.1
- XP_006719842.1
- XP_006719852.1
- XP_016875957.1
- XP_016875947.1
Antibody Products
- Novus Biologicals Antibodies for MYCBP2
-
Abcam antibodies for MYCBP2
- Search GeneTex for Antibodies for 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
- Search GeneTex for Proteins for MYCBP2
Assay Products
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:
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 highwire 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).
- Family:
-
- Belongs to the highwire family.
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.
- 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.
Enzyme Numbers (IUBMB) for MYCBP2 Gene
Phenotypes From GWAS Catalog for MYCBP2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 15161933 |
| GO:0016740 | transferase activity | IEA | -- |
| GO:0046872 | metal ion binding | 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
- Cyagen custom Knockout/knockin (KOKI) mouse models for MYCBP2
-
CRISPR Products
-
OriGene CRISPR knockouts for MYCBP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MYCBP2
- genomics-online: gRNA clones - Search results for 68 available MYCBP2 gene related products
- Overview of 68 available MYCBP2 gene related products
- Applied Biological Materials CRISPR for MYCBP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for MYCBP2
miRNA for MYCBP2 Gene
- miRTarBase miRNAs that target MYCBP2
-
- 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
- genomics-online: shRNA clones - Search results for 68 available MYCBP2 gene related products
- Overview of 68 available MYCBP2 gene related products
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for MYCBP2 in any vector
- NM_015057.4
- XM_006719787.2
- XM_006719788.2
- XM_011535005.2
- XM_006719781.2
- XM_006719789.2
- XM_006719783.2
- XM_006719784.2
- XM_005266299.2
- XM_006719785.2
- XM_011535004.2
- XM_006719779.2
- XM_006719786.2
- XM_006719780.2
- XM_006719782.2
- XM_017020461.1
- XM_017020465.1
- XM_017020454.1
- XM_017020459.1
- XM_017020460.1
- XM_017020457.1
- XM_017020458.1
- XM_017020462.1
- XM_017020466.1
- XM_017020455.1
- XM_017020464.1
- XM_017020467.1
- XM_017020456.1
- XM_017020463.1
- XM_017020468.1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MYCBP2
- Applied Biological Materials Clones for MYCBP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 4 |
| extracellular | 1 |
- Nucleus (3)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | -- |
| GO:0016020 | membrane | HDA | 19946888 |
| GO:0043231 | intracellular membrane-bounded organelle | IDA | -- |
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
| 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 | -- |
No data available for SIGNOR curated interactions for MYCBP2 Gene
Drugs & Compounds for MYCBP2 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| pyrophosphate |
|
14000-31-8 |
|
Drug Products
Transcripts for MYCBP2 Gene
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 :
-
- ENST00000544440 14664 bps (uc058xok.1)
- ENST00000429715 3660 bps (uc058xon.1)
- ENST00000485061 566 bps (uc058xox.1)
- ENST00000482517 1581 bps (uc058xoy.1)
- ENST00000462987 463 bps (uc058xoz.1)
Unigene Clusters for MYCBP2 Gene
- MYC binding protein 2, E3 ubiquitin protein ligase:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for MYCBP2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MYCBP2
- genomics-online: gRNA clones - Search results for 68 available MYCBP2 gene related products
- Overview of 68 available MYCBP2 gene related products
- Applied Biological Materials CRISPR for MYCBP2
-
Vectors and viruses for KO, Activation, Repression, and more
-
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
- genomics-online: shRNA clones - Search results for 68 available MYCBP2 gene related products
- Overview of 68 available MYCBP2 gene related products
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for MYCBP2 in any vector
- NM_015057.4
- XM_006719787.2
- XM_006719788.2
- XM_011535005.2
- XM_006719781.2
- XM_006719789.2
- XM_006719783.2
- XM_006719784.2
- XM_005266299.2
- XM_006719785.2
- XM_011535004.2
- XM_006719779.2
- XM_006719786.2
- XM_006719780.2
- XM_006719782.2
- XM_017020461.1
- XM_017020465.1
- XM_017020454.1
- XM_017020459.1
- XM_017020460.1
- XM_017020457.1
- XM_017020458.1
- XM_017020462.1
- XM_017020466.1
- XM_017020455.1
- XM_017020464.1
- XM_017020467.1
- XM_017020456.1
- XM_017020463.1
- XM_017020468.1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MYCBP2
- Applied Biological Materials Clones for MYCBP2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| 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: |
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
NURSA nuclear receptor signaling pathways regulating expression of MYCBP2 Gene:
MYCBP2SOURCE 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. 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(4.4)
- Lung(2.1)
- Heart(2)
- Muscle(2)
Primer Products
-
OriGene qPCR primer pairs for MYCBP2
- genomics-online: primer clones - Search results for 68 available MYCBP2 gene related products
- Overview of 68 available MYCBP2 gene related products
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 | -- 34 |
|
OneToMany | |
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| -- 34 |
|
OneToMany | |||
| chimpanzee (Pan troglodytes) |
Mammalia | MYCBP2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | MYCBP2 34 33 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | MYCBP2 34 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | MYCBP2 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Mycbp2 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Mycbp2 33 |
|
||
| chicken (Gallus gallus) |
Aves | MYCBP2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | MYCBP2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.3526 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | mycbp2 34 33 |
|
OneToOne | |
| Dr.17163 33 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12300 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | hiw 34 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011177 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | rpm-1 34 33 |
|
OneToMany | |
| F07B7.12 34 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne | |
| Cin.4977 33 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.4977 33 |
|
- 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)
- 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
| SNP ID | Clin | Chr 13 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs193920951 | uncertain-significance, Malignant tumor of prostate | 77,126,432(-) | C/G/T | coding_sequence_variant, intron_variant, missense_variant | |
| rs386352333 | uncertain-significance, not provided | 77,051,078(-) | T/C | coding_sequence_variant, missense_variant | |
| rs1000003742 | -- | 77,199,934(-) | G/C | intron_variant | |
| rs1000004973 | -- | 77,201,890(-) | A/C | intron_variant | |
| rs1000009677 | -- | 77,288,743(-) | A/C | genic_upstream_transcript_variant, intron_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 |
|---|---|---|
| ecthyma |
|
|
| reticulate acropigmentation of kitamura |
|
|
| brunner syndrome |
|
|
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
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 58
- 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 58
- RAE-1, a novel PHR binding protein, is required for axon termination and synapse formation in Caenorhabditis elegans. (PMID: 22357847) Grill B … Garner CC (The Journal of neuroscience : the official journal of the Society for Neuroscience 2012) 3 4 58
- Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 44 58
- Fbxo45 forms a novel ubiquitin ligase complex and is required for neuronal development. (PMID: 19398581) Saiga T … Nakayama KI (Molecular and cellular biology 2009) 3 4 58
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Sources for MYCBP2 Gene
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