Gene Gene information from NCBI Gene database.
Entrez ID 54617
Gene name INO80 complex ATPase subunit
Gene symbol INO80
Synonyms (NCBI Gene)
INO80AINOC1
Chromosome 15
Chromosome location 15q15.1
Summary This gene encodes a subunit of the chromatin remodeling complex, which is classified into subfamilies depending on sequence features apart from the conserved ATPase domain. This protein is the catalytic ATPase subunit of the INO80 chromatin remodeling com
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs199722402 C>T Likely-pathogenic Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs730882226 A>G Likely-pathogenic Non coding transcript variant, coding sequence variant, missense variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
393
miRTarBase ID miRNA Experiments Reference
MIRT632816 hsa-miR-6796-3p HITS-CLIP 23824327
MIRT632815 hsa-miR-216a-5p HITS-CLIP 23824327
MIRT632814 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT632813 hsa-miR-6736-3p HITS-CLIP 23824327
MIRT673262 hsa-miR-5693 HITS-CLIP 23824327
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
YY1 Unknown 17721549
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
67
GO ID Ontology Definition Evidence Reference
GO:0000070 Process Mitotic sister chromatid segregation IMP 20237820
GO:0000166 Function Nucleotide binding IEA
GO:0000723 Process Telomere maintenance IEA
GO:0000723 Process Telomere maintenance ISO
GO:0000724 Process Double-strand break repair via homologous recombination IMP 18026119
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610169 26956 ENSG00000128908
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9ULG1
Protein name Chromatin-remodeling ATPase INO80 (hINO80) (EC 3.6.4.-) (DNA helicase-related INO80 complex homolog 1) (DNA helicase-related protein INO80) (INO80 complex subunit A)
Protein function ATPase component of the chromatin remodeling INO80 complex which is involved in transcriptional regulation, DNA replication and DNA repair (PubMed:16230350, PubMed:16298340, PubMed:17721549, PubMed:20237820, PubMed:20855601). Binds DNA (PubMed:1
PDB 6HTS , 7ZI4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13892 DBINO 273 405 DNA-binding domain Domain
PF00176 SNF2_N 473 822 SNF2 family N-terminal domain Family
PF00271 Helicase_C 1101 1214 Helicase conserved C-terminal domain Family
Tissue specificity TISSUE SPECIFICITY: According to PubMed:10574462, widely expressed. According to PubMed:16298340, specifically expressed in brain, liver and pancreas. {ECO:0000269|PubMed:10574462, ECO:0000269|PubMed:16298340}.
Sequence
MASELGARDDGGCTELAKPLYLQYLERALRLDHFLRQTSAIFNRNISSDDSEDGLDDSNP
LLPQSGDPLIQVKEEPPNSLLGETSGAGSSGMLNTYSLNGVLQSESKCDKGNLYNFSKLK
KSRKWLKSILLSDESSEADSQSEDDDEEELNLSREELHNMLRLHKYKKLHQNKYSKDKEL
QQYQYYSAGLLSTYDPFYEQQRHLLGPKKKKFKEEKKLKAKLKKVKKKRRRDEELSSEES
PRRHHHQTKVFAKFSHDAPPPGTKKKHLSIEQLNARRRKVWLSIVKKELPKANKQKASAR
NLFLTNSRKLAHQCMKEVRRAALQAQKNCKETLPRARRLTKEMLLYWKKYEKVEKEHRKR
AEKEALEQRKLDEEMREAKRQQRKLNFLITQTELYAHFMSRKRDM
GHDGIQEEILRKLED
SSTQRQIDIGGGVVVNITQEDYDSNHFKAQALKNAENAYHIHQARTRSFDEDAKESRAAA
LRAANKSGTGFGESYSLANPSIRAGEDIPQPTIFNGKLKGYQLKGMNWLANLYEQGINGI
LADEMGLGKTVQSIALLAHLAERENIWGPFLIISPASTLNNWHQEFTRFVPKFKVLPYWG
NPHDRKVIRRFWSQKTLYTQDAPFHVVITSYQLVVQDVKYFQRVKWQYMVLDEAQALKSS
SSVRWKILLQFQCRNRLLLTGTPIQNTMAELWALLHFIMPTLFDSHEEFNEWFSKDIESH
AENKSAIDENQLSRLHMILKPFMLRRIKKDVENELSDKIEILMYCQLTSRQKLLYQALKN
KISIEDLLQSSMGSTQQAQNTTSSLMNLVMQFRKVCNHPELF
ERQETWSPFHISLKPYHI
SKFIYRHGQIRVFNHSRDRWLRVLSPFAPDYIQRSLFHRKGINEESCFSFLRFIDISPAE
MANLMLQGLLARWLALFLSLKASYRLHQLRSWGAPEGESHQRYLRNKDFLLGVNFPLSFP
NLCSCPLLKSLVFSSHCKAVSGYSDQVVHQRRSATSSLRRCLLTELPSFLCVASPRVTAV
PLDSYCNDRSAEYERRVLKEGGSLAAKQCLLNGAPELAADWLNRRSQFFPEPAGGLWSIR
PQNGWSFIRIPGKESLITDSGKLYALDVLLTRLKSQGHRVLIYSQMTRMIDLLEEYMVYR
KHTYMRLDGSSKISERRDMVADFQNRNDIFVFLLSTRAGGLGINLTAADTVIFYDSDWNP
TVDQQAMDRAHRLG
QTKQVTVYRLICKGTIEERILQRAKEKSEIQRMVISGGNFKPDTLK
PKEVVSLLLDDEELEKKLRLRQEEKRQQEETNRVKERKRKREKYAEKKKKEDELDGKRRK
EGVNLVIPFVPSADNSNLSADGDDSFISVDSAMPSPFSEISISSELHTGSIPLDESSSDM
LVIVDDPASSAPQSRATNSPASITGSVSDTVNGISIQEMPAAGRGHSARSRGRPKGSGST
AKGAGKGRSRKSTAGSAAAMAGAKAGAAAASAAAYAAYGYNVSKGISASSPLQTSLVRPA
GLADFGPSSASSPLSSPLSKGNNVPGNPKNLHMTSSLAPDSLVRKQGKGTNPSGGR
Sequence length 1556
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  ATP-dependent chromatin remodeling   UCH proteinases
DNA Damage Recognition in GG-NER
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
INO80-related immunodeficiency Likely pathogenic rs199722402, rs730882226 RCV005252782
RCV005252783
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Likely pathogenic rs199722402, rs730882226 RCV000162143
RCV000162144
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary microcephaly Likely pathogenic rs199722402, rs730882226 RCV000162143
RCV000162144
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure Likely pathogenic rs199722402, rs730882226 RCV000162143
RCV000162144
★★★★☆
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 Evidence Score
COMBINED IMMUNODEFICIENCY WITH GRANULOMATOSIS Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 27779717
★☆☆☆☆
Found in Text Mining only
cervical cancer Cervical Cancer BEFREE 27750218
★☆☆☆☆
Found in Text Mining only
Cervix carcinoma Cervix carcinoma BEFREE 27750218
★☆☆☆☆
Found in Text Mining only
Chronic Kidney Diseases Kidney Disease GWASDB_DG 22479191
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 29383140
★☆☆☆☆
Found in Text Mining only
Congenital chromosomal disease Congenital Chromosomal Disease BEFREE 26489677
★☆☆☆☆
Found in Text Mining only
Congenital heart disease Congenital Heart Disease BEFREE 29371594
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Diabetes mellitus, type 1 Pubtator 33083497 Associate
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Hepatolenticular Degeneration Hepatolenticular Degeneration BEFREE 30230192
★☆☆☆☆
Found in Text Mining only