Gene table of IGHMBP2 : immunoglobulin mu binding protein 2

Gene-disease associations table

Disease IDDisease nameSource of annotation with IGHMBP2OMIM linkNumber of associated genesgenes
PS118220CHARCOT-MARIE-TOOTH DISEASEClinVar, OMIM, HUMSAVAR link to OMIM 48KARS, FIG4, PRPS1, FGD4, MPZ, KIF1B, NEFL, GJB1, VCP, GDAP1, AIFM1, IGHMBP2, SH3TC2, TRIM2, JPH1, PLEKHG5, NEFH, NAGLU, TRPV4, HARS, HSPB8, HSPB1, PMP22, MED25, SPG11, SBF1, DYNC1H1, SURF1, DNM2, NDRG1, MARS, SBF2, RAB7A, MORC2, AARS, COX6A1, PDK3, DHTKD1, HK1, LMNA, LRSAM1, EGR2, PRX, MTMR2, LITAF, MFN2, YARS, GARS
253300SPINAL MUSCULAR ATROPHY, TYPE IClinVar link to OMIM 2IGHMBP2, SMN1
604320SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1ClinVar, OMIM, HUMSAVAR link to OMIM 1IGHMBP2

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Annotation of the gene IGHMBP2

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
ATPase activityGO:00168873.65
ATP-dependent helicase activityGO:00080265.12
purine ribonucleoside triphosphate bindingGO:00356392.22
macromolecular complex bindingGO:00448772.61
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
DNA helicase activityGO:00036785.73
RNA-dependent ATPase activityGO:00081865.56
nucleotide bindingGO:00001661.96
heterocyclic compound bindingGO:19013631.06
nucleoside phosphate bindingGO:19012651.96
nucleoside bindingGO:00018822.21
cation bindingGO:00431691.4
tRNA bindingGO:00000495.95
transition metal ion bindingGO:00469142.48
ATPase activity, coupledGO:00426233.97
ATP-dependent 5'-3' RNA helicase activityGO:00325759.74
ion bindingGO:00431671.36
purine nucleoside bindingGO:00018832.22
ribonucleoside bindingGO:00325492.22
ribonucleoprotein complex bindingGO:00430215.15
purine nucleotide bindingGO:00170762.19
metal ion bindingGO:00468721.41
single-stranded DNA bindingGO:00036975.17
ATP bindingGO:00055242.43
hydrolase activityGO:00167871.9
ATP-dependent DNA helicase activityGO:00040036.13
transcription factor bindingGO:00081343.46
ATP-dependent 5'-3' DNA helicase activityGO:00431418.13
nucleoside-triphosphatase activityGO:00171113.09
ATP-dependent RNA helicase activityGO:00040045.56
helicase activityGO:00043864.69
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
DNA-dependent ATPase activityGO:00080945.31
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168183.03
ribosome bindingGO:00430225.83
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
hydrolase activity, acting on acid anhydridesGO:00168173.03
pyrophosphatase activityGO:00164623.04
RNA helicase activityGO:00037245.53
5'-3' RNA helicase activityGO:00325749.74
adenyl ribonucleotide bindingGO:00325592.41
RNA bindingGO:00037232.36
protein bindingGO:00055150.46
purine NTP-dependent helicase activityGO:00700355.12
purine ribonucleotide bindingGO:00325552.2
5'-3' DNA helicase activityGO:00431397.66
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19
zinc ion bindingGO:00082702.66