Gene Page: MAD2L1BP
Summary ?
| GeneID | 9587 |
| Symbol | MAD2L1BP |
| Synonyms | CMT2 |
| Description | MAD2L1 binding protein |
| Reference | HGNC:HGNC:21059|Ensembl:ENSG00000124688|HPRD:10065|Vega:OTTHUMG00000014747 |
| Gene type | protein-coding |
| Map location | 6p21.1 |
| Pascal p-value | 4.047E-4 |
| Sherlock p-value | 0.01 |
| Fetal beta | 0.523 |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| GSMA_IIE | Genome scan meta-analysis (European-ancestry samples) | Psr: 0.04433 | |
| Network | Shortest path distance of core genes in the Human protein-protein interaction network | Contribution to shortest path in PPI network: 0.0385 |
Section I. Genetics and epigenetics annotation
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression during devlopment (BrainCloud)
Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
Top co-expressed genes in brain regions
| Top 10 positively co-expressed genes | ||
| Gene | Pearson's Correlation | Spearman's Correlation |
| KIAA0556 | 0.88 | 0.89 |
| GIT2 | 0.88 | 0.88 |
| MTF1 | 0.88 | 0.88 |
| C20orf194 | 0.87 | 0.89 |
| MTR | 0.87 | 0.91 |
| TSC1 | 0.87 | 0.89 |
| PPFIA1 | 0.87 | 0.86 |
| XPC | 0.87 | 0.88 |
| ARHGAP21 | 0.87 | 0.88 |
| CEP350 | 0.87 | 0.90 |
| Top 10 negatively co-expressed genes | ||
| Gene | Pearson's Correlation | Spearman's Correlation |
| AF347015.21 | -0.68 | -0.69 |
| C1orf54 | -0.67 | -0.72 |
| AF347015.31 | -0.65 | -0.63 |
| IFI27 | -0.64 | -0.61 |
| VAMP5 | -0.63 | -0.63 |
| HIGD1B | -0.63 | -0.64 |
| GNG11 | -0.62 | -0.62 |
| ENHO | -0.62 | -0.63 |
| MT-CO2 | -0.61 | -0.61 |
| MYL3 | -0.60 | -0.60 |
Section III. Gene Ontology annotation
| Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16169070 |18022368 | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0007096 | regulation of exit from mitosis | IEA | - | |
| Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0005634 | nucleus | IDA | 10942595 | |
| GO:0005634 | nucleus | IEA | - | |
| GO:0005737 | cytoplasm | IDA | 10942595 |
Section IV. Protein-protein interaction annotation
| Interactors | Aliases B | Official full name B | Experimental | Source | PubMed ID |
|---|---|---|---|---|---|
| C1orf103 | FLJ11269 | RIF1 | RP11-96K19.1 | chromosome 1 open reading frame 103 | Two-hybrid | BioGRID | 16169070 |
| EEF1A1 | CCS-3 | CCS3 | EEF-1 | EEF1A | EF-Tu | EF1A | FLJ25721 | GRAF-1EF | HNGC:16303 | LENG7 | MGC102687 | MGC131894 | MGC16224 | PTI1 | eEF1A-1 | eukaryotic translation elongation factor 1 alpha 1 | Two-hybrid | BioGRID | 16169070 |
| IGSF21 | FLJ41177 | MGC15730 | immunoglobin superfamily, member 21 | Two-hybrid | BioGRID | 16169070 |
| KAT5 | ESA1 | HTATIP | HTATIP1 | PLIP | TIP | TIP60 | cPLA2 | K(lysine) acetyltransferase 5 | Two-hybrid | BioGRID | 16169070 |
| KIAA1377 | - | KIAA1377 | Two-hybrid | BioGRID | 16169070 |
| KRT15 | CK15 | K15 | K1CO | keratin 15 | Two-hybrid | BioGRID | 16189514 |
| MAD2L1 | HSMAD2 | MAD2 | MAD2 mitotic arrest deficient-like 1 (yeast) | MAD2 interacts with CMT2. | BIND | 12456649 |
| MAD2L1 | HSMAD2 | MAD2 | MAD2 mitotic arrest deficient-like 1 (yeast) | - | HPRD,BioGRID | 12456649 |
| PTN | HARP | HBGF8 | HBNF | NEGF1 | pleiotrophin | Two-hybrid | BioGRID | 16169070 |
| SETDB1 | ESET | KG1T | KIAA0067 | KMT1E | SET domain, bifurcated 1 | Two-hybrid | BioGRID | 16169070 |
| TP53 | FLJ92943 | LFS1 | TRP53 | p53 | tumor protein p53 | Two-hybrid | BioGRID | 16169070 |
| TRIP13 | 16E1BP | thyroid hormone receptor interactor 13 | Affinity Capture-Western Two-hybrid | BioGRID | 16169070 |16189514 |
| TRIP13 | 16E1BP | thyroid hormone receptor interactor 13 | - | HPRD | 11591653 |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| WANG LMO4 TARGETS DN | 352 | 225 | All SZGR 2.0 genes in this pathway |
| GINESTIER BREAST CANCER 20Q13 AMPLIFICATION DN | 180 | 101 | All SZGR 2.0 genes in this pathway |
| KAAB FAILED HEART ATRIUM DN | 141 | 99 | All SZGR 2.0 genes in this pathway |
| SESTO RESPONSE TO UV C3 | 20 | 15 | All SZGR 2.0 genes in this pathway |
| MARSON BOUND BY FOXP3 STIMULATED | 1022 | 619 | All SZGR 2.0 genes in this pathway |
| BONOME OVARIAN CANCER SURVIVAL OPTIMAL DEBULKING | 246 | 152 | All SZGR 2.0 genes in this pathway |
| HOLLEMAN ASPARAGINASE RESISTANCE ALL DN | 25 | 14 | All SZGR 2.0 genes in this pathway |
| ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY | 1839 | 928 | All SZGR 2.0 genes in this pathway |