Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29123
Gene name Gene Name - the full gene name approved by the HGNC.
Ankyrin repeat domain containing 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ANKRD11
Synonyms (NCBI Gene) Gene synonyms aliases
ANCO-1, ANCO1, LZ16, T13
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive cr
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs146474985 C>A,T Pathogenic Coding sequence variant, stop gained, genic downstream transcript variant, missense variant
rs199800166 C>T Likely-pathogenic, likely-benign, uncertain-significance Genic downstream transcript variant, missense variant, coding sequence variant
rs201589586 G>A,C,T Likely-pathogenic, likely-benign, uncertain-significance Genic downstream transcript variant, stop gained, missense variant, coding sequence variant
rs746852311 G>A Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs747922528 G>A,C,T Pathogenic Stop gained, missense variant, genic downstream transcript variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019021 hsa-miR-335-5p Microarray 18185580
MIRT027843 hsa-miR-98-5p Microarray 19088304
MIRT045610 hsa-miR-149-5p CLASH 23622248
MIRT045278 hsa-miR-186-5p CLASH 23622248
MIRT041338 hsa-miR-193b-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IDA 21782149
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IBA
GO:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611192 21316 ENSG00000167522
Protein
UniProt ID Q6UB99
Protein name Ankyrin repeat domain-containing protein 11 (Ankyrin repeat-containing cofactor 1)
Protein function Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells (By similarity). May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transac
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 145 231 Ankyrin repeats (3 copies) Repeat
PF13857 Ank_5 220 274 Repeat
Sequence
MPKGGCPKAPQQEELPLSSDMVEKQTGKKDKDKVSLTKTPKLERGDGGKEVRERASKRKL
PFTAGANGEQKDSDTEKQGPERKRIKKEPVTRKAGLLFGMGLSGIRAGYPLSERQQVALL
MQMTAEESANSPVDTTPKHPSQSTVCQKGTPNSASKTKDKVNKRNERGETRLHRAAIRGD
ARRIKELISEGADVNVKDFAGWTALHEACNRGYYDVAKQ
LLAAGAEVNTKGLDDDTPLHD
AANNGHYKVVKLLLRYGGNPQQSNRKGETPLKVA
NSPTMVNLLLGKGTYTSSEESSTESS
EEEDAPSFAPSSSVDGNNTDSEFEKGLKHKAKNPEPQKATAPVKDEYEFDEDDEQDRVPP
VDDKHLLKKDYRKETKSNSFISIPKMEVKSYTKNNTIAPKKASHRILSDTSDEEDASVTV
GTGEKLRLSAHTILPGSKTREPSNAKQQKEKNKVKKKRKKETKGREVRFGKRSDKFCSSE
SESESSESGEDDRDSLGSSGCLKGSPLVLKDPSLFSSLSASSTSSHGSSAAQKQNPSHTD
QHTKHWRTDNWKTISSPAWSEVSSLSDSTRTRLTSESDYSSEGSSVESLKPVRKRQEHRK
RASLSEKKSPFLSSAEGAVPKLDKEGKVVKKHKTKHKHKNKEKGQCSISQELKLKSFTYE
YEDSKQKSDKAILLENDLSTENKLKVLKHDRDHFKKEEKLSKMKLEEKEWLFKDEKSLKR
IKDTNKDISRSFREEKDRSNKAEKERSLKEKSPKEEKLRLYKEERKKKSKDRPSKLEKKN
DLKEDKISKEKEKIFKEDKEKLKKEKVYREDSAFDEYCNKNQFLENEDTKFSLSDDQRDR
WFSDLSDSSFDFKGEDSWDSPVTDYRDMKSDSVAKLILETVKEDSKERRRDSRAREKRDY
REPFFRKKDRDYLDKNSEKRKEQTEKHKSVPGYLSEKDKKRRESAEAGRDRKDALESCKE
RRDGRAKPEEAHREELKECGCESGFKDKSDGDFGKGLEPWERHHPAREKEKKDGPDKERK
EKTKPERYKEKSSDKDKSEKSILEKCQKDKEFDKCFKEKKDTKEKHKDTHGKDKERKASL
DQGKEKKEKAFPGIISEDFSEKKDDKKGKEKSWYIADIFTDESEDDRDSCMGSGFKMGEA
SDLPRTDGLQEKEEGREAYASDRHRKSSDKQHPERQKDKEPRDRRKDRGAADAGRDKKEK
VFEKHKEKKDKESTEKYKDRKDRASVDSTQDKKNKQKLPEKAEKKHAAEDKAKSKHKEKS
DKEHSKERKSSRSADAEKSLLEKLEEEALHEYREDSNDKISEVSSDSFTDRGQEPGLTAF
LEVSFTEPPGDDKPRESACLPEKLKEKERHRHSSSSSKKSHDRERAKKEKAEKKEKGEDY
KEGGSRKDSGQYEKDFLEADAYGVSYNMKADIEDELDKTIELFSTEKKDKNDSEREPSKK
IEKELKPYGSSAINILKEKKKREKHREKWRDEKERHRDRHADGLLRHHRDELLRHHRDEQ
KPATRDKDSPPRVLKDKSRDEGPRLGDAKLKEKFKDGAEKEKGDPVKMSNGNDKVAPSKD
PGKKDARPREKLLGDGDLMMTSFERMLSQKDLEIEERHKRHKERMKQMEKLRHRSGDPKL
KEKAKPADDGRKKGLDIPAKKPPGLDPPFKDKKLKESTPIPPAAENKLHPASGADSKDWL
AGPHMKEVLPASPRPDQSRPTGVPTPTSVLSCPSYEEVMHTPRTPSCSADDYADLVFDCA
DSQHSTPVPTAPTSACSPSFFDRFSVASSGLSENASQAPARPLSTNLYRSVSVDIRRTPE
EEFSVGDKLFRQQSVPAASSYDSPMPPSMEDRAPLPPVPAEKFACLSPGYYSPDYGLPSP
KVDALHCPPAAVVTVTPSPEGVFSSLQAKPSPSPRAELLVPSLEGALPPDLDTSEDQQAT
AAIIPPEPSYLEPLDEGPFSAVITEEPVEWAHPSEQALASSLIGGTSENPVSWPVGSDLL
LKSPQRFPESPKRFCPADPLHSAAPGPFSASEAPYPAPPASPAPYALPVAEPGLEDVKDG
VDAVPAAISTSEAAPYAPPSGLESFFSNCKSLPEAPLDVAPEPACVAAVAQVEALGPLEN
SFLDGSRGLSHLGQVEPVPWADAFAGPEDDLDLGPFSLPELPLQTKDAADGEAEPVEESL
APPEEMPPGAPGVINGGDVSTVVAEEPPALPPDQASTRLPAELEPEPSGEPKLDVALEAA
VEAETVPEERARGDPDSSVEPAPVPPEQRPLGSGDQGAEAEGPPAASLCAPDGPAPNTVA
QAQAADGAGPEDDTEASRAAAPAEGPPGGIQPEAAEPKPTAEAPKAPRVEEIPQRMTRNR
AQMLANQSKQGPPPSEKECAPTPAPVTRAKARGSEDDDAQAQHPRKRRFQRSTQQLQQQL
NTSTQQTREVIQQTLAAIVDAIKLDAIEPYHSDRANPYFEYLQIRKKIEEKRKILCCITP
QAPQCYAEYVTYTGSYLLDGKPLSKLHIPVIAPPPSLAEPLKELFRQQEAVRGKLRLQHS
IEREKLIVSCEQEILRVHCRAARTIANQAVPFSACTMLLDSEVYNMPLESQGDENKSVRD
RFNARQFISWLQDVDDKYDRMKTCLLMRQQHEAAALNAVQRMEWQLKVQELDPAGHKSLC
VNEVPSFYVPMVDVNDDFVLLPA
Sequence length 2663
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
KBG Syndrome kbg syndrome rs1221781038, rs886041125, rs1597452422, rs1555529645, rs1567566026, rs772267579, rs1597451815, rs863225257, rs1567592494, rs1597459077, rs1555535454, rs1567571990, rs1064794330, rs1597460246, rs869312713
View all (75 more)
N/A
Mental retardation intellectual disability rs1555525088, rs886041125, rs1064793539, rs749632782, rs886041521 N/A
Developmental Delay global developmental delay rs797045027, rs780011005, rs1597464953, rs1364690005, rs886039902, rs749201074 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Asthma Asthma in any disease N/A N/A GWAS
Carcinoma Squamous cell carcinoma, Basal cell carcinoma N/A N/A GWAS
Congenital heart defects congenital heart defects, multiple types N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 37800809
Astigmatism Associate 28422132
Ataxia Associate 39346806
Autism Spectrum Disorder Associate 18252227, 19920853, 25424714, 28422132
Autistic Disorder Associate 19920853, 25574603
Brain Diseases Associate 19920853, 28422132
Brain Injuries Associate 37800809
Breast Neoplasms Associate 24678732, 31788936, 37414914
Carcinoma Intraductal Noninfiltrating Inhibit 31788936
Caroli disease isolated Associate 27955658