Gene Gene information from NCBI Gene database.
Entrez ID 54454
Gene name ATPase family AAA domain containing 2B
Gene symbol ATAD2B
Synonyms (NCBI Gene)
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Chromosome 2
Chromosome location 2p24.1-p23.3
Summary The protein encoded by this gene belongs to the AAA ATPase family. This family member includes an N-terminal bromodomain. It has been found to be localized to the nucleus, partly to replication sites, consistent with a chromatin-related function. Alternat
miRNA miRNA information provided by mirtarbase database.
326
miRTarBase ID miRNA Experiments Reference
MIRT029473 hsa-miR-26b-5p Microarray 19088304
MIRT030851 hsa-miR-21-5p Microarray 18591254
MIRT724840 hsa-miR-186-3p HITS-CLIP 19536157
MIRT724839 hsa-miR-150-5p HITS-CLIP 19536157
MIRT724838 hsa-miR-1269a HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003682 Function Chromatin binding IBA
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 24561620, 25593309
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615347 29230 ENSG00000119778
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULI0
Protein name ATPase family AAA domain-containing protein 2B
PDB 2DKW , 3LXJ , 6VEO , 8SDX , 8UHL , 8UK5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00004 AAA 437 572 ATPase family associated with various cellular activities (AAA) Domain
PF17862 AAA_lid_3 595 639 AAA+ lid domain Domain
PF00439 Bromodomain 967 1049 Bromodomain Domain
Sequence
MVNTRKSSLRLLGSKSPGPGPGPGAGAEPGATGGSSHFISSRTRSSKTRAASCPAAKAGG
SGGAGVTLDEARKVEVDGSLSDSHVSPPAKRTLKQPDSVCKDKSKSRSTGQREEWNLSTG
QARLTSQPGATLPNGHSGLSLRSHPLRGEKKGDGDLSCINGDMEVRKSCRSRKNRFESVN
QSLLFDQLVNSTAEAVLQEMDNINIRQNRRSGEVERLRMWTDTEFENMDMYSRVKRRRKS
LRRNSYGIQNHHEVSTEGEEEESQEEDGDIEVEEAEGEENDRPYNLRQRKTVDRYQAPPI
VPAHQKKRENTLFDIHRSPARRSHIRRKKHAIHSSDTTSSDEERFERRKSKSMARARNRC
LPMNFRAEDLASGILRERVKVGASLADVDPMNIDKSVRFDSIGGLSHHIHALKEMVVFPL
LYPEIFEKFKIQPPRGCLFYGPPGTGKTLVARALANECSQGDKKVAFFMRKGADCLSKWV
GESERQLRLLFDQAYLMRPSIIFFDEIDGLAPVRSSRQDQIHSSIVSTLLALMDGLDNRG
EIVVIGATNRLDSIDPALRRPGRFDREFLFNL
PDQKARKHILQIHTRDWNPKLSDAFLGE
LAEKCVGYCGADIKALCTEAALIALRRRYPQIYASSHKL
QLDVSSIVLSAQDFYHAMQNI
VPASQRAVMSSGHALSPIIRPLLERSFNNILAVLQKVFPHAEISQSDKKEDIETLILEDS
EDENALSIFETNCHSGSPKKQSSSAAIHKPYLHFTMSPYHQPTSYRPRLLLSGERGSGQT
SHLAPALLHTLERFSVHRLDLPALYSVSAKTPEESCAQIFREARRTVPSIVYMPHIGDWW
EAVSETVRATFLTLLQDIPSFSPIFLLSTSETMYSELPEEVKCIFRIQYEEVLYIQRPIE
EDRRKFFQELILNQASMAPPRRKHAALCAMEVLPLALPSPPRQLSESEKSRMEDQEENTL
RELRLFLRDVTKRLATDKRFNIFSKPVDIEEVSDYLEVIKEPMDLSTVITKIDKHNYLTA
KDFLKDIDLICSNALEYNPDKDPGDKIIR
HRACTLKDTAHAIIAAELDPEFNKLCEEIKE
ARIKRGLSVTSEQINPHSTGARKTETRVEEAFRHKQRNPMDVWHNSANKCAFRVRRKSRR
RSQWGKGIIKKRKVNNLKKDEEDTKFADYENHTEDRKLLENGEFEVSTDCHEENGEETGD
LSMTNDESSCDIMDLDQGQRLNNGAGTKENFASTEEESSNESLLVNSSSSLNPEQTSRKE
TFLKGNCLNGEASTDSFEGIPVLECQNGKLEVVSFCDSGDKCSSEQKILLEDQSKEKPET
STENHGDDLEKLEALECSNNEKLEPGSDVEVKDAELDKEGASKVKKYRKLILEQAKTTSL
ELVPEEPSEPVPPLIVDRERLKKLLDLLVDKSNNLAVDQLERLYSLLSQCIYRHRKDYDK
SQLVEEMERTVHMFETFL
Sequence length 1458
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
See cases Uncertain significance rs866490133 RCV003492905
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Connective Tissue Diseases Associate 22208759
Genetic Diseases Inborn Associate 22208759
Heredodegenerative Disorders Nervous System Associate 22208759
Myotonia with Skeletal Abnormalities and Mental Retardation Associate 22208759
Respiratory Tract Diseases Associate 37925496