Gene Gene information from NCBI Gene database.
Entrez ID 51742
Gene name AT-rich interaction domain 4B
Gene symbol ARID4B
Synonyms (NCBI Gene)
BCAABRCAA1RBBP1L1RBP1L1SAP180
Chromosome 1
Chromosome location 1q42.3
Summary This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes includ
miRNA miRNA information provided by mirtarbase database.
658
miRTarBase ID miRNA Experiments Reference
MIRT004028 hsa-miR-106a-5p Luciferase reporter assay 17575136
MIRT004065 hsa-miR-19b-3p Luciferase reporter assay 17575136
MIRT004072 hsa-miR-20b-5p Luciferase reporter assay 17575136
MIRT004089 hsa-miR-92a-3p Luciferase reporter assay 17575136
MIRT004072 hsa-miR-20b-5p Western blot;Other 17575136
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II NAS 9651585, 22865885
GO:0000976 Function Transcription cis-regulatory region binding IBA
GO:0003677 Function DNA binding EXP 33675746
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding IMP 33675746
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609696 15550 ENSG00000054267
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q4LE39
Protein name AT-rich interactive domain-containing protein 4B (ARID domain-containing protein 4B) (180 kDa Sin3-associated polypeptide) (Sin3-associated polypeptide p180) (Breast cancer-associated antigen BRCAA1) (Histone deacetylase complex subunit SAP180) (Retinobla
Protein function Acts as a transcriptional repressor (PubMed:12724404). May function in the assembly and/or enzymatic activity of the Sin3A corepressor complex or in mediating interactions between the complex and other regulatory complexes (PubMed:12724404). Pla
PDB 7DM4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08169 RBB1NT 168 263 RBB1NT (NUC162) domain Domain
PF01388 ARID 308 394 ARID/BRIGHT DNA binding domain Domain
PF11717 Tudor-knot 570 626 RNA binding activity-knot of a chromodomain Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in the testis and in breast, lung, colon, pancreatic and ovarian cancers. Expressed at low levels in the thymus, prostate and ovary. {ECO:0000269|PubMed:11481388, ECO:0000269|PubMed:12724404, ECO:0000269|PubMed:1524712
Sequence
MKALDEPPYLTVGTDVSAKYRGAFCEAKIKTAKRLVKVKVTFRHDSSTVEVQDDHIKGPL
KVGAIVEVKNLDGAYQEAVINKLTDASWYTVVFDDGDEKTLRRSSLCLKGERHFAESETL
DQLPLTNPEHFGTPVIGKKTNRGRRSNHIPEEESSSSSSDEDEDDRKQIDELLGKVVCVD
YISLDKKKALWFPALVVCPDCSDEIAVKKDNILVRSFKDGKFTSVPRKDVHEITSDTAPK
PDAVLKQAFEQALEFHKSRTIPA
NWKTELKEDSSSSEAEEEEEEEDDEKEKEDNSSEEEE
EIEPFPEERENFLQQLYKFMEDRGTPINKRPVLGYRNLNLFKLFRLVHKLGGFDNIESGA
VWKQVYQDLGIPVLNSAAGYNVKCAYKKYLYGFE
EYCRSANIEFQMALPEKVVNKQCKEC
ENVKEIKVKEENETEIKEIKMEEERNIIPREEKPIEDEIERKENIKPSLGSKKNLLESIP
THSDQEKEVNIKKPEDNENLDDKDDDTTRVDESLNIKVEAEEEKAKSGDETNKEEDEDDE
EAEEEEEEEEEEEDEDDDDNNEEEEFECYPPGMKVQVRYGRGKNQKMYEASIKDSDVEGG
EVLYLVHYCGWNVRYDEWIKADKIVR
PADKNVPKIKHRKKIKNKLDKEKDKDEKYSPKNC
KLRRLSKPPFQTNPSPEMVSKLDLTDAKNSDTAHIKSIEITSILNGLQASESSAEDSEQE
DERGAQDMDNNGKEESKIDHLTNNRNDLISKEEQNSSSLLEENKVHADLVISKPVSKSPE
RLRKDIEVLSEDTDYEEDEVTKKRKDVKKDTTDKSSKPQIKRGKRRYCNTEECLKTGSPG
KKEEKAKNKESLCMENSSNSSSDEDEEETKAKMTPTKKYNGLEEKRKSLRTTGFYSGFSE
VAEKRIKLLNNSDERLQNSRAKDRKDVWSSIQGQWPKKTLKELFSDSDTEAAASPPHPAP
EEGVAEESLQTVAEEESCSPSVELEKPPPVNVDSKPIEEKTVEVNDRKAEFPSSGSNSVL
NTPPTTPESPSSVTVTEGSRQQSSVTVSEPLAPNQEEVRSIKSETDSTIEVDSVAGELQD
LQSEGNSSPAGFDASVSSSSSNQPEPEHPEKACTGQKRVKDAQGGGSSSKKQKRSHKATV
VNNKKKGKGTNSSDSEELSAGESITKSQPVKSVSTGMKSHSTKSPARTQSPGKCGKNGDK
DPDLKEPSNRLPKVYKWSFQMSDLENMTSAERITILQEKLQEIRKHYLSLKSEVASIDRR
RKRLKKKERESAATSSSSSSPSSSSITAAVMLTLAEPSMSSASQNGMSVECR
Sequence length 1312
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    HDACs deacetylate histones
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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 Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, ADENOID CYSTIC CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1 Uncertain significance ClinVar
★★☆☆☆
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
Adenoid Cystic Carcinoma Adenocarcinoma CTD_human_DG 23685749
★☆☆☆☆
Found in Text Mining only
Amino Acid Metabolism, Inborn Errors Disorder of amino acid metabolism BEFREE 16365091, 24486081
★☆☆☆☆
Found in Text Mining only
ATRIAL SEPTAL DEFECT 1 Atrial Septal Defect BEFREE 30446206
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect BEFREE 30446206
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 30446206
★☆☆☆☆
Found in Text Mining only
Brain Tumor, Primary Brain Neoplasms BEFREE 27451434
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 11481388, 15247124, 22693453, 23447578, 27451434
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 33592583, 38137006 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 11481388
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular Diseases BEFREE 29572205
★☆☆☆☆
Found in Text Mining only