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)

Not available

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 去后m Evidence Neuro keywords PubMed ID
GO:0005515 protein binding 新闻学会 16169070|18022368
Biological process 去后m Evidence Neuro keywords PubMed ID
GO:0007096 regulation of exit from mitosis IEA -
Cellular component 去后m 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天冬酰胺酶抵抗所有的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