ABTB3 (ankyrin repeat and BTB domain containing 3)

Gene

• Entrez ID: 121551
• Gene name: Ankyrin repeat and BTB domain containing 3
• Gene symbol: ABTB3
• Synonyms (NCBI Gene): ABTB2B, BTBD11
• Chromosome: 12
• Chromosome location: 12q23.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT826252	hsa-miR-1254	CLIP-seq
MIRT826253	hsa-miR-1291	CLIP-seq
MIRT826254	hsa-miR-2054	CLIP-seq
MIRT826255	hsa-miR-3116	CLIP-seq
MIRT826256	hsa-miR-3612	CLIP-seq
MIRT826257	hsa-miR-374c	CLIP-seq
MIRT826258	hsa-miR-4254	CLIP-seq
MIRT826259	hsa-miR-4443	CLIP-seq
MIRT826260	hsa-miR-4539	CLIP-seq
MIRT826261	hsa-miR-650	CLIP-seq
MIRT826262	hsa-miR-655	CLIP-seq
MIRT826263	hsa-miR-661	CLIP-seq
MIRT1944330	hsa-miR-34a	CLIP-seq
MIRT1944331	hsa-miR-34c-5p	CLIP-seq
MIRT1944332	hsa-miR-3910	CLIP-seq
MIRT1944333	hsa-miR-4279	CLIP-seq
MIRT1944334	hsa-miR-449a	CLIP-seq
MIRT1944335	hsa-miR-449b	CLIP-seq
MIRT1944336	hsa-miR-4528	CLIP-seq
MIRT2182886	hsa-miR-1200	CLIP-seq
MIRT2182887	hsa-miR-1207-3p	CLIP-seq
MIRT2182888	hsa-miR-2682	CLIP-seq
MIRT2182889	hsa-miR-27a	CLIP-seq
MIRT2182890	hsa-miR-27b	CLIP-seq
MIRT2182891	hsa-miR-3140-5p	CLIP-seq
MIRT2182892	hsa-miR-3146	CLIP-seq
MIRT2182893	hsa-miR-3190	CLIP-seq
MIRT2182894	hsa-miR-3607-5p	CLIP-seq
MIRT1944332	hsa-miR-3910	CLIP-seq
MIRT2182895	hsa-miR-3921	CLIP-seq
MIRT2182896	hsa-miR-4269	CLIP-seq
MIRT2182897	hsa-miR-4464	CLIP-seq
MIRT2182898	hsa-miR-4491	CLIP-seq
MIRT2182899	hsa-miR-4493	CLIP-seq
MIRT2182900	hsa-miR-4496	CLIP-seq
MIRT2182901	hsa-miR-449c	CLIP-seq
MIRT2182902	hsa-miR-450b-5p	CLIP-seq
MIRT2182903	hsa-miR-4514	CLIP-seq
MIRT2182904	hsa-miR-4653-3p	CLIP-seq
MIRT2182905	hsa-miR-4653-5p	CLIP-seq
MIRT2182906	hsa-miR-4657	CLIP-seq
MIRT2182907	hsa-miR-4692	CLIP-seq
MIRT2182908	hsa-miR-4742-5p	CLIP-seq
MIRT2182909	hsa-miR-4748	CLIP-seq
MIRT2182910	hsa-miR-513a-5p	CLIP-seq
MIRT2182911	hsa-miR-518a-5p	CLIP-seq
MIRT2182912	hsa-miR-527	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0016020	Component	Membrane	IEA
GO:0030165	Function	PDZ domain binding	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0098978	Component	Glutamatergic synapse	IEA

Other IDs

• MIM: 621028
• HGNC: 23844
• e!Ensembl: ENSG00000151136

Protein

• UniProt ID: A6QL63
• Protein name: Ankyrin repeat- and BTB/POZ domain-containing protein 3 (BTB/POZ domain-containing protein 11)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	633 → 718	Ankyrin repeats (3 copies)	Repeat
  PF00651	BTB	914 → 1022	BTB/POZ domain	Domain

• Sequence:

  MARRGKKPVVRTLEDLTLDSGYGGAADSVRSSNLSLCCSDSHPASPYGGSCWPPLADSMH
  SRHNSFDTVNTALVEDSEGLDCAGQHCSRLLPDLDEVPWTLQELEALLLRSRDPRAGPAV
  PGGLPKDALAKLSTLVSRALVRIAKEAQRLSLRFAKCTKYEIQSAMEIVLSWGLAAHCTA
  AALAALSLYNMSSAGGDRLGRGKSARCGLTFSVGRVYRWMVDSRVALRIHEHAAIYLTAC
  MESLFRDIYSRVVASGVPRSCSGPGSGSGSGPGPSSGPGAAPAADKEREAPGGGAASGGA
  CSAASSASGGSSCCAPPAAAAAAVPPAAAANHHHHHHHALHEAPKFTVETLEHTVNNDSE
  IWGLLQPYQHLICGKNASGVLCLPDSLNLHRDPQRSNKPGELPMFSQSELRTIEQSLLAT
  RVGSIAELSDLVSRAMHHLQPLNAKHHGNGTPLHHKQGALYWEPEALYTLCYFMHCPQME
  WENPNVEPSKVNLQVERPFLVLPPLMEWIRVAVAHAGHRRSFSMDSDDVRQAARLLLPGV
  DCEPRQLRADDCFCASRKLDAVAIEAKFKQDLGFRMLNCGRTDLVKQAVSLLGPDGINTM
  SEQGMTPLMYACVRGDEAMVQMLLDAGADLNVEVVSTPHKYPSVHPETRHWTALTFAVLH
  GHIPVVQLLLDAGAKVEGSVEHGEENYSETPLQLAAAVGNFELVSLLLERGADPLIGTMY
  RNGISTTPQGDMNSFSQAAAHGHRNVFRKLLAQPEKEKSDILSLEEILAEGTDLAETAPP
  PLCASRNSKAKLRALREAMYHSAEHGYVDVTIDIRSIGVPWTLHTWLESLRIAFQQHRRP
  LIQCLLKEFKTIQEEEYTEELVTQGLPLMFEILKASKNEVISQQLCVIFTHCYGPYPIPK
  LTEIKRKQTSRLDPHFLNNKEMSDVTFLVEGRPFYAHKVLLFTASPRFKALLSSKPTNDG
  TCIEIGYVKYSIFQLVMQYLYYGGPESLLIKNNEIMELLSAAKFFQLEALQRHCEIICAK
  SINTDNCVDIYNHAKFLGVTELSAYCEGYFLKNMMVLIENEAFKQLLYDKNGEGTGQDVL
  QDLQRTLAIRIQSIHLSSSKGSVV

• Sequence length: 1104

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL TREMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL CAVITY CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Asthma	Asthma	GWASDB_DG	24406073		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	26503814		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	CTD_human_DG	19233941		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	40171809	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	19233941		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	40171809	Associate	★☆☆☆☆ Found in Text Mining only