Log in to save this analysis

Save This Analysis

Gene Gene information from NCBI Gene database.
Entrez ID 29028
Gene name ATPase family AAA domain containing 2
Gene symbol ATAD2
Synonyms (NCBI Gene)
ANCCACT137PRO2000
Chromosome 8
Chromosome location 8q24.13
Summary A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated wit
miRNA miRNA information provided by mirtarbase database.
345 Show/Hide all (345)
miRTarBase ID miRNA Experiments Reference
MIRT020472 hsa-miR-106b-5p Microarray 17242205
MIRT024263 hsa-miR-215-5p Microarray 19074876
MIRT026860 hsa-miR-192-5p Microarray 19074876
MIRT050753 hsa-miR-17-3p CLASH 23622248
MIRT041465 hsa-miR-193b-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
AR Unknown 22771493
E2F1 Unknown 22771493
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20 Show/Hide all (20)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003682 Function Chromatin binding IBA
GO:0005515 Function Protein binding IPI 17998543, 25640309, 31527615
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611941 30123 ENSG00000156802
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6PL18
Protein name ATPase family AAA domain-containing protein 2 (EC 3.6.1.-) (AAA nuclear coregulator cancer-associated protein) (ANCCA)
Protein function May be a transcriptional coactivator of the nuclear receptor ESR1 required to induce the expression of a subset of estradiol target genes, such as CCND1, MYC and E2F1. May play a role in the recruitment or occupancy of CREBBP at some ESR1 target
PDB 3DAI , 4QSP , 4QSQ , 4QSR , 4QSS , 4QST , 4QSU , 4QSV , 4QSW , 4QSX , 4QUT , 4QUU , 4TT2 , 4TT4 , 4TT6 , 4TTE , 4TU4 , 4TU6 , 4TYL , 4TZ2 , 4TZ8 , 5A5N , 5A5O , 5A5P , 5A5Q , 5A5R , 5A81 , 5A82 , 5A83 , 5EPB , 5F36 , 5F3A , 5LJ0 , 5QXI , 5QXJ , 5QXK , 5QXL , 5QXM , 5QXN , 5QXO , 5QXP , 5QXQ , 5QXR , 5QXS , 5QXT , 5QXU , 5QXV , 5QXW , 5QXX , 5QXY , 5QXZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00004 AAA 463 → 598 ATPase family associated with various cellular activities (AAA) Domain
PF00439 Bromodomain 993 → 1074 Bromodomain Domain
PF17862 AAA_lid_3 621 → 680 AAA+ lid domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in estrogen receptor positive breast tumors and in osteosarcoma tumors. {ECO:0000269|PubMed:15721472, ECO:0000269|PubMed:17076897, ECO:0000269|PubMed:17660802}.
Sequence
MVVLRSSLELHNHSAASATGSLDLSSDFLSLEHIGRRRLRSAGAAQKKPAATTAKAGDGS
SVKEVETYHRTRALRSLRKDAQNSSDSSFEKNVEITEQLANGRHFTRQLARQQADKKKEE
HREDKVIPVTRSLRARNIVQSTEHLHEDNGDVEVRRSCRIRSRYSGVNQSMLFDKLITNT
AEAVLQKMDDMKKMRRQRMRELEDLGVFNETEESNLNMYTRGKQKDIQRTDEETTDNQEG
SVESSEEGEDQEHEDDGEDEDDEDDDDDDDDDDDDDDEDDEDEEDGEEENQKRYYLRQRK
ATVYYQAPLEKPRHQRKPNIFYSGPASPARPRYRLSSAGPRSPYCKRMNRRRHAIHSSDS
TSSSSSEDEQHFERRRKRSRNRAINRCLPLNFRKDELKGIYKDRMKIGASLADVDPMQLD
SSVRFDSVGGLSNHIAALKEMVVFPLLYPEVFEKFKIQPPRGCLFYGPPGTGKTLVARAL
ANECSQGDKRVAFFMRKGADCLSKWVGESERQLRLLFDQAYQMRPSIIFFDEIDGLAPVR
SSRQDQIHSSIVSTLLALMDGLDSRGEIVVIGATNRLDSIDPALRRPGRFDREFLFSL
PD
KEARKEILKIHTRDWNPKPLDTFLEELAENCVGYCGADIKSICAEAALCALRRRYPQIYT
TSEKLQLDLSSINISAKDFE
VAMQKMIPASQRAVTSPGQALSTVVKPLLQNTVDKILEAL
QRVFPHAEFRTNKTLDSDISCPLLESDLAYSDDDVPSVYENGLSQKSSHKAKDNFNFLHL
NRNACYQPMSFRPRILIVGEPGFGQGSHLAPAVIHALEKFTVYTLDIPVLFGVSTTSPEE
TCAQVIREAKRTAPSIVYVPHIHVWWEIVGPTLKATFTTLLQNIPSFAPVLLLATSDKPH
SALPEEVQELFIRDYGEIFNVQLPDKEERTKFFEDLILKQAAKPPISKKKAVLQALEVLP
VAPPPEPRSLTAEEVKRLEEQEEDTFRELRIFLRNVTHRLAIDKRFRVFTKPVDPDEVPD
YVTVIKQPMDLSSVISKIDLHKYLTVKDYLRDIDLICSNALEYNPDRDPGDRLI
RHRACA
LRDTAYAIIKEELDEDFEQLCEEIQESRKKRGCSSSKYAPSYYHVMPKQNSTLVGDKRSD
PEQNEKLKTPSTPVACSTPAQLKRKIRKKSNWYLGTIKKRRKISQAKDDSQNAIDHKIES
DTEETQDTSVDHNETGNTGESSVEENEKQQNASESKLELRNNSNTCNIENELEDSRKTTA
CTELRDKIACNGDASSSQIIHISDENEGKEMCVLRMTRARRSQVEQQQLITVEKALAILS
QPTPSLVVDHERLKNLLKTVVKKSQNYNIFQLENLYAVISQCIYRHRKDHDKTSLIQKME
QEVENFSCSR
Sequence length 1390
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Reactome Pathway
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
Colorectal cancer Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Uncertain significance ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (51)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 22914773, 23775406, 31186081
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 19843847, 20864510, 21158754, 31721721
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 17998543, 20124470, 20864510, 23393560, 24391143, 24489661, 32174193, 37922300 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 24552534, 32462022 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 22043308, 24552534, 25687855, 32462022 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 24761900, 31746426
★★★★★
★☆☆☆☆
Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism Cerebellar ataxia and hypogonadotropic hypogonadism Pubtator 20864510 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 25813398
★★★★★
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 25813398
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 29958090
★★★★★
★☆☆☆☆
Found in Text Mining only