Gene Gene information from NCBI Gene database.
Entrez ID 29123
Gene name Ankyrin repeat domain containing 11
Gene symbol ANKRD11
Synonyms (NCBI Gene)
ANCO-1ANCO1LZ16T13
Chromosome 16
Chromosome location 16q24.3
Summary 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.
164
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.
413
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611192 21316 ENSG00000167522
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
2210
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal facial shape Likely pathogenic; Pathogenic rs886041125 RCV001003618
Abnormality of the nervous system Likely pathogenic; Pathogenic rs2151703086, rs772267579 RCV001814559
RCV001003617
ANKRD11-related disorder Pathogenic; Likely pathogenic rs886041942, rs886039902, rs886041125, rs2544230218, rs1567537296, rs2544222373, rs2544233232, rs763414376, rs2544235864, rs2544225964, rs2544238498, rs1597459077, rs146294483, rs2544240139, rs2544178578
View all (5 more)
RCV003416307
RCV004739645
RCV004739647
RCV003900990
RCV003900993
RCV003404335
RCV003402334
RCV003402347
RCV003404641
RCV003404667
RCV003408550
RCV003394308
RCV003982731
RCV003983417
RCV003893973
RCV003411482
RCV004723158
RCV004740540
RCV004740642
RCV003898274
Chromatinopathy Likely pathogenic rs2035028859 RCV001261254
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Conflicting classifications of pathogenicity rs199741062 RCV005915335
Atypical behavior Conflicting classifications of pathogenicity rs575642464 RCV000626913
Autism spectrum disorder Likely benign rs1245070474, rs909732848 RCV003127231
RCV003127232
Cervical cancer Uncertain significance rs368779363 RCV005917734
Associations from Text MiningDisease 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