ANKS1B (ankyrin repeat and sterile alpha motif domain containing 1B)

Gene

• Entrez ID: 56899
• Gene name: Ankyrin repeat and sterile alpha motif domain containing 1B
• Gene symbol: ANKS1B
• Synonyms (NCBI Gene): AIDA, AIDA-1, ANKS2, EB-1, EB1, cajalin-2
• Chromosome: 12
• Chromosome location: 12q23.1
• Summary: This gene encodes a multi-domain protein that is predominantly expressed in brain and testis. This protein interacts with amyloid beta protein precursor (AbetaPP) and may have a role in normal brain development, and in the pathogenesis of Alzheimer`s dise

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022633	hsa-miR-124-3p	Microarray	18668037
MIRT785366	hsa-miR-147	CLIP-seq
MIRT785367	hsa-miR-186	CLIP-seq
MIRT785368	hsa-miR-2113	CLIP-seq
MIRT785369	hsa-miR-218	CLIP-seq
MIRT785370	hsa-miR-2355-5p	CLIP-seq
MIRT785371	hsa-miR-3133	CLIP-seq
MIRT785372	hsa-miR-3140-3p	CLIP-seq
MIRT785373	hsa-miR-3646	CLIP-seq
MIRT785374	hsa-miR-3679-3p	CLIP-seq
MIRT785375	hsa-miR-4446-5p	CLIP-seq
MIRT785376	hsa-miR-4678	CLIP-seq
MIRT785377	hsa-miR-4795-3p	CLIP-seq
MIRT785378	hsa-miR-548m	CLIP-seq
MIRT785379	hsa-miR-599	CLIP-seq
MIRT785380	hsa-miR-636	CLIP-seq
MIRT785381	hsa-miR-3189-3p	CLIP-seq
MIRT785382	hsa-miR-3689a-3p	CLIP-seq
MIRT785383	hsa-miR-3689c	CLIP-seq
MIRT785384	hsa-miR-3975	CLIP-seq
MIRT785385	hsa-miR-4267	CLIP-seq
MIRT785386	hsa-miR-4448	CLIP-seq
MIRT785387	hsa-miR-4728-5p	CLIP-seq
MIRT785388	hsa-miR-550a	CLIP-seq
MIRT1931645	hsa-miR-3662	CLIP-seq
MIRT2475096	hsa-miR-10a	CLIP-seq
MIRT2475097	hsa-miR-10b	CLIP-seq
MIRT2475098	hsa-miR-339-5p	CLIP-seq
MIRT2475099	hsa-miR-3667-5p	CLIP-seq
MIRT2475100	hsa-miR-4421	CLIP-seq
MIRT2475101	hsa-miR-451b	CLIP-seq
MIRT2475102	hsa-miR-4696	CLIP-seq
MIRT2475103	hsa-miR-4725-5p	CLIP-seq
MIRT2475104	hsa-miR-504	CLIP-seq
MIRT2475096	hsa-miR-10a	CLIP-seq
MIRT2475097	hsa-miR-10b	CLIP-seq
MIRT2475098	hsa-miR-339-5p	CLIP-seq
MIRT2475099	hsa-miR-3667-5p	CLIP-seq
MIRT2475100	hsa-miR-4421	CLIP-seq
MIRT2475101	hsa-miR-451b	CLIP-seq
MIRT2475102	hsa-miR-4696	CLIP-seq
MIRT2475103	hsa-miR-4725-5p	CLIP-seq
MIRT2475104	hsa-miR-504	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	15862129, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA
GO:0005829	Component	Cytosol	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0014069	Component	Postsynaptic density	IEA
GO:0015030	Component	Cajal body	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0045202	Component	Synapse	IEA
GO:0046875	Function	Ephrin receptor binding	IBA
GO:0046875	Function	Ephrin receptor binding	IPI	17875921
GO:0048013	Process	Ephrin receptor signaling pathway	IBA

Other IDs

• MIM: 607815
• HGNC: 24600
• e!Ensembl: ENSG00000185046

Protein

• UniProt ID: Q7Z6G8
• Protein name: Ankyrin repeat and sterile alpha motif domain-containing protein 1B (Amyloid-beta protein intracellular domain-associated protein 1) (AIDA-1) (E2A-PBX1-associated protein) (EB-1)
• Protein function: Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells.; Isoform 3 can regulate global protein synthesis by altering nucleolar numbers. {ECO:0000250, ECO:0000269|PubMe
• PDB: 2EAM, 2KE7, 2KIV, 2M38
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	7 → 125	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	114 → 189	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	185 → 256	Ankyrin repeats (3 copies)	Repeat
  PF00536	SAM_1	808 → 874	SAM domain (Sterile alpha motif)	Domain
  PF00536	SAM_1	882 → 946	SAM domain (Sterile alpha motif)	Domain
  PF00640	PID	1062 → 1192	Phosphotyrosine interaction domain (PTB/PID)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in marrow from patients with pre-B ALL associated with the t(1;19) translocation. Strongly expressed in brain and testis. Expressed in fetal brain. Isoform 4 is highly expressed in brain (at protein level). Isoform 6 i
• Sequence:

  MGKDQELLEAARTGNVALVEKLLSGRKGGILGGGSGPLPLSNLLSIWRGPNVNCTDSSGY
  TALHHAALNGHKDIVLKLLQYEASTNVADNKGYFPIHLAAWKGDVEIVKILIHHGPSHSR
  VNEQNNENETALHCAAQYGHSEVVAVLLEELTDPTIRNSKLETPLDLAALYGRLRVVKMI
  ISAHPNLMSCNTRKHTPLHLAARNGHKAVVQVLLEAGMDVSCQTEKGSALHEAALFGKVD
  VVRVLLETGIDANIKDSLGRTVLDILKEHPSQKSLQIATLLQEYLEGVGRSTVLEEPVQE
  DATQETHISSPVESPSQKTKSETVTGELSKLLDEIKLCQEKDYSFEDLCHTISDHYLDNL
  SKISEEELGKNGSQSVRTSSTINLSPGEVEEEDDDENTCGPSGLWEALTPCNGCRNLGFP
  MLAQESYPKKRNYTMEIVPSASLDTFPSENENFLCDLMDTAVTKKPCSLEIARAPSPRTD
  NASEVAVTTPGTSNHRNSSTGPTPDCSPPSPDTALKNIVKVIRPQPKQRTSIVSSLDFHR
  MNHNQEYFEINTSTGCTSFTASPPASPPTSSVGTTEVKNEGTNHTDDLSRQDDNDPPKEY
  DPGQFAGLLHGSSPACESPENPFHLYGKREQCEKGQDEVSLANSPLPFKQSPIENNSEPL
  VKKIKPKVVSRTIFHKKSNQLENHTIVGTRSTRSGSRNGDQWVMNAGGFVERACTLGRIR
  SLPKALIDMHLSKSVSKSDSDLIAYPSNEKTSRVNWSESSTAEHSSKGNSERTPSFTSEW
  EEIDKIMSSIDVGINNELKEMNGETTRPRCPVQTVGQWLESIGLPQYENHLMANGFDNVQ
  FMGSNVMEDQDLLEIGILNSGHRQRILQAIQLLPKMRPIGHDGYHPTSVAEWLDSIELGD
  YTKAFLINGYTSMDLLKKIWEVELINVLKINLIGHRKRILASLGDRLHDDPPQKPPRSIT
  LREPSGNHTPPQLSPSLSQSTYTTGGSLDVPHIIMQGDARRRRNENYFDDIPRSKLERQM
  AQTGDWGEPSITLRPPNEATASTPVQYWQHHPEKLIFQSCDYKAFYLGSMLIKELRGTES
  TQDACAKMRANCQKSTEQMKKVPTIILSVSYKGVKFIDATNKNIIAEHEIRNISCAAQDP
  EDLSTFAYITKDLKSNHHYCHVFTAFDVNLAYEIILTLGQAFEVAYQLALQARKGGHSST
  LPESFENKPSKPIPKPRVSIRKSVDLLHASHTGQEPSERHTEEALRKF

• Sequence length: 1248

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
AMYOTROPHIC LATERAL SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKS1B-related disorder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENERALIZED ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOLENTICULAR DEGENERATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	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
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	9823979		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	40631452	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27533483		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27533483		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	27533483	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	31388001		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	31043756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24479813	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	27533483	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27533483		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	GWASCAT_DG	29551627		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28903393, 9823979		★☆☆☆☆ Found in Text Mining only
Depressed bipolar I disorder	Depressed bipolar disorder	GWASCAT_DG	31043756		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29179725	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	32030560	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	GWASCAT_DG	31113495		★☆☆☆☆ Found in Text Mining only
Hepatic Form of Wilson Disease	Hepatolenticular degeneration	CTD_human_DG	23519153		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	CTD_human_DG	23519153		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ischemic stroke	Ischemic Stroke	BEFREE	27533483		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	20578947		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	15004329		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22665367	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30792348	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30094535, 9823979		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	31388001		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	16769578		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	16769578		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	LHGDN	12415113, 16386788		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	28332719		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma	Carcinoma	BEFREE	27208742		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	28903393		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35148692	Associate	★☆☆☆☆ Found in Text Mining only