Gene table of RECQL4 : RecQ like helicase 4

Gene-disease associations table

Disease IDDisease nameSource of annotation with RECQL4OMIM linkNumber of associated genesgenes
268400ROTHMUND-THOMSON SYNDROMEClinVar, OMIM link to OMIM 1RECQL4
266280RAPADILINO SYNDROMEOMIM link to OMIM 1RECQL4
218600BALLER-GEROLD SYNDROMEClinVar, OMIM, HUMSAVAR link to OMIM 1RECQL4

Download the gene annotation in CSV format

Annotation of the gene RECQL4

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
four-way junction helicase activityGO:00093788.13
ATPase activityGO:00168873.65
ATP-dependent helicase activityGO:00080265.12
purine ribonucleoside triphosphate bindingGO:00356392.22
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
DNA helicase activityGO:00036785.73
annealing activityGO:00976177.25
heterocyclic compound bindingGO:19013631.06
purine nucleoside bindingGO:00018832.22
nucleoside bindingGO:00018822.21
structure-specific DNA bindingGO:00435664.98
ATPase activity, coupledGO:00426233.97
nucleotide bindingGO:00001661.96
nucleoside phosphate bindingGO:19012651.96
ATP-dependent 3'-5' DNA helicase activityGO:00431407.95
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
ATP bindingGO:00055242.43
hydrolase activityGO:00167871.9
ATP-dependent DNA helicase activityGO:00040036.13
DNA secondary structure bindingGO:00002176.6
nucleoside-triphosphatase activityGO:00171113.09
helicase activityGO:00043864.69
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
annealing helicase activityGO:00363107.66
DNA-dependent ATPase activityGO:00080945.31
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydridesGO:00168183.03
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
bubble DNA bindingGO:00004057.79
hydrolase activity, acting on acid anhydridesGO:00168173.03
pyrophosphatase activityGO:00164623.04
adenyl ribonucleotide bindingGO:00325592.41
protein bindingGO:00055150.46
purine NTP-dependent helicase activityGO:00700355.12
purine ribonucleotide bindingGO:00325552.2
3'-5' DNA helicase activityGO:00431387.25
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19