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Tbio Ankyrin repeat domain-containing protein 11

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 transactivation (PubMed:15184363). Has a role in proliferation and development of cortical neural precursors (PubMed:25556659). May also regulate bone homeostasis (By similarity).

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 craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X. [provided by RefSeq, Jan 2012]

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Property Summary

NCBI Gene PubMed Count 24
PubMed Score 339.67
PubTator Score 104.88

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Intellectual disability 1016
Anteverted nostril 191
Autism Spectrum Disorders 75
Autistic Disorder 364
Bushy eyebrows 49
Byzanthine arch palate 194
Central incisor gap 3
Cervical rib 4
Cognitive delay 608
Colpocephaly 4
Congenital clinodactyly 57
Cryptorchidism 296
Curvature of digit 57
Delayed bone age 136
Diastema between maxillary central incisors 3
Dilated ventricles (finding) 121
Dull intelligence 645
Epilepsy 792
Frontal bossing 157
Fused vertebrae 25
Global developmental delay 608
High forehead 102
Hyperplasia of tooth 2
Hypertrophy of tooth 2
Hypoplasia of corpus callosum 90
Hypoplasia of the optic nerve 17
Hypoplastic mandible condyle 275
Increased size of tooth 2
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Long palpebral fissure 17
Long philtrum 137
Low anterior hairline 30
Low intelligence 645
Low posterior hairline 52
Macrodontia 2
Macrostomia 72
Macrotia 87
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Metabolic Bone Disorder 11
Micrognathism 275
Missing more than six teeth 22
Moderate mental retardation (I.Q. 35-49) 28
Oligodontia 24
Orbital separation excessive 244
Periventricular neuronal heterotopia 6
Pointed chin 33
Poor school performance 645
Prominent ear 56
Protruding ears 56
Radially deviated fingers 38
Rib fusion 16
Round face 45
Round, full face 45
Seizures 596
Short stature 531
Single transverse palmar crease 29
Small head 374
Smooth philtrum 43
Spinal fusion 25
Syndactyly 88
Tall forehead 102
Telecanthus 62
Thin hypoplastic alae nasi 51
Thoracic kyphosis 6
Triangular face 58
Vertebral arch abnormalities 1
Vertebral body fusion 25
Wide upper central incisors 3
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.2
Endometrial cancer 311 0.0 0.5
Kidney cancer 2613 0.0 0.7
Disease Target Count Z-score Confidence
Melanoma 711 0.0 2.2
Disease Target Count Z-score Confidence
Cancer 2499 4.551 2.3
Disease Target Count
16q24.3 microdeletion syndrome 6

Expression

  Differential Expression (10)

Disease log2 FC p
adult high grade glioma -1.300 2.8e-03
Astrocytoma, Pilocytic -1.100 1.4e-02
atypical teratoid / rhabdoid tumor -1.100 1.8e-02
glioblastoma -1.100 3.3e-04
group 4 medulloblastoma -1.500 9.6e-03
medulloblastoma, large-cell -1.600 2.3e-04
ovarian cancer -1.600 1.5e-06
Pick disease 1.200 2.2e-04
psoriasis 1.400 3.6e-04
Rheumatoid arthritis 1.400 5.2e-03

Synonym

Accession Q6UB99 Q6NTG1 Q6QMF8
Symbols T13
LZ16
ANCO1
ANCO-1

Gene

ANKRD11

  Ortholog (10)

Species Source Disease
OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA EggNOG
Inparanoid EggNOG
Inparanoid OMA EggNOG
Inparanoid OMA
Inparanoid OMA

 UniProt Keyword (9)

 GO Component (4)

 GO Process (7)

 Compartment GO Term (24)

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 IMPC Phenotype (18)

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 MGI Phenotype (11)

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 GWAS Trait (2)

 HCA RNA Cell Line (56)

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Gene RIF (15)

AA Sequence 

MPKGGCPKAPQQEELPLSSDMVEKQTGKKDKDKVSLTKTPKLERGDGGKEVRERASKRKLPFTAGANGEQ      1 - 70
KDSDTEKQGPERKRIKKEPVTRKAGLLFGMGLSGIRAGYPLSERQQVALLMQMTAEESANSPVDTTPKHP     71 - 140
SQSTVCQKGTPNSASKTKDKVNKRNERGETRLHRAAIRGDARRIKELISEGADVNVKDFAGWTALHEACN    141 - 210
RGYYDVAKQLLAAGAEVNTKGLDDDTPLHDAANNGHYKVVKLLLRYGGNPQQSNRKGETPLKVANSPTMV    211 - 280
NLLLGKGTYTSSEESSTESSEEEDAPSFAPSSSVDGNNTDSEFEKGLKHKAKNPEPQKATAPVKDEYEFD    281 - 350
EDDEQDRVPPVDDKHLLKKDYRKETKSNSFISIPKMEVKSYTKNNTIAPKKASHRILSDTSDEEDASVTV    351 - 420
GTGEKLRLSAHTILPGSKTREPSNAKQQKEKNKVKKKRKKETKGREVRFGKRSDKFCSSESESESSESGE    421 - 490
DDRDSLGSSGCLKGSPLVLKDPSLFSSLSASSTSSHGSSAAQKQNPSHTDQHTKHWRTDNWKTISSPAWS    491 - 560
EVSSLSDSTRTRLTSESDYSSEGSSVESLKPVRKRQEHRKRASLSEKKSPFLSSAEGAVPKLDKEGKVVK    561 - 630
KHKTKHKHKNKEKGQCSISQELKLKSFTYEYEDSKQKSDKAILLENDLSTENKLKVLKHDRDHFKKEEKL    631 - 700
SKMKLEEKEWLFKDEKSLKRIKDTNKDISRSFREEKDRSNKAEKERSLKEKSPKEEKLRLYKEERKKKSK    701 - 770
DRPSKLEKKNDLKEDKISKEKEKIFKEDKEKLKKEKVYREDSAFDEYCNKNQFLENEDTKFSLSDDQRDR    771 - 840
WFSDLSDSSFDFKGEDSWDSPVTDYRDMKSDSVAKLILETVKEDSKERRRDSRAREKRDYREPFFRKKDR    841 - 910
DYLDKNSEKRKEQTEKHKSVPGYLSEKDKKRRESAEAGRDRKDALESCKERRDGRAKPEEAHREELKECG    911 - 980
CESGFKDKSDGDFGKGLEPWERHHPAREKEKKDGPDKERKEKTKPERYKEKSSDKDKSEKSILEKCQKDK    981 - 1050
EFDKCFKEKKDTKEKHKDTHGKDKERKASLDQGKEKKEKAFPGIISEDFSEKKDDKKGKEKSWYIADIFT   1051 - 1120
DESEDDRDSCMGSGFKMGEASDLPRTDGLQEKEEGREAYASDRHRKSSDKQHPERQKDKEPRDRRKDRGA   1121 - 1190
ADAGRDKKEKVFEKHKEKKDKESTEKYKDRKDRASVDSTQDKKNKQKLPEKAEKKHAAEDKAKSKHKEKS   1191 - 1260
DKEHSKERKSSRSADAEKSLLEKLEEEALHEYREDSNDKISEVSSDSFTDRGQEPGLTAFLEVSFTEPPG   1261 - 1330
DDKPRESACLPEKLKEKERHRHSSSSSKKSHDRERAKKEKAEKKEKGEDYKEGGSRKDSGQYEKDFLEAD   1331 - 1400
AYGVSYNMKADIEDELDKTIELFSTEKKDKNDSEREPSKKIEKELKPYGSSAINILKEKKKREKHREKWR   1401 - 1470
DEKERHRDRHADGLLRHHRDELLRHHRDEQKPATRDKDSPPRVLKDKSRDEGPRLGDAKLKEKFKDGAEK   1471 - 1540
EKGDPVKMSNGNDKVAPSKDPGKKDARPREKLLGDGDLMMTSFERMLSQKDLEIEERHKRHKERMKQMEK   1541 - 1610
LRHRSGDPKLKEKAKPADDGRKKGLDIPAKKPPGLDPPFKDKKLKESTPIPPAAENKLHPASGADSKDWL   1611 - 1680
AGPHMKEVLPASPRPDQSRPTGVPTPTSVLSCPSYEEVMHTPRTPSCSADDYADLVFDCADSQHSTPVPT   1681 - 1750
APTSACSPSFFDRFSVASSGLSENASQAPARPLSTNLYRSVSVDIRRTPEEEFSVGDKLFRQQSVPAASS   1751 - 1820
YDSPMPPSMEDRAPLPPVPAEKFACLSPGYYSPDYGLPSPKVDALHCPPAAVVTVTPSPEGVFSSLQAKP   1821 - 1890
SPSPRAELLVPSLEGALPPDLDTSEDQQATAAIIPPEPSYLEPLDEGPFSAVITEEPVEWAHPSEQALAS   1891 - 1960
SLIGGTSENPVSWPVGSDLLLKSPQRFPESPKRFCPADPLHSAAPGPFSASEAPYPAPPASPAPYALPVA   1961 - 2030
EPGLEDVKDGVDAVPAAISTSEAAPYAPPSGLESFFSNCKSLPEAPLDVAPEPACVAAVAQVEALGPLEN   2031 - 2100
SFLDGSRGLSHLGQVEPVPWADAFAGPEDDLDLGPFSLPELPLQTKDAADGEAEPVEESLAPPEEMPPGA   2101 - 2170
PGVINGGDVSTVVAEEPPALPPDQASTRLPAELEPEPSGEPKLDVALEAAVEAETVPEERARGDPDSSVE   2171 - 2240
PAPVPPEQRPLGSGDQGAEAEGPPAASLCAPDGPAPNTVAQAQAADGAGPEDDTEASRAAAPAEGPPGGI   2241 - 2310
QPEAAEPKPTAEAPKAPRVEEIPQRMTRNRAQMLANQSKQGPPPSEKECAPTPAPVTRAKARGSEDDDAQ   2311 - 2380
AQHPRKRRFQRSTQQLQQQLNTSTQQTREVIQQTLAAIVDAIKLDAIEPYHSDRANPYFEYLQIRKKIEE   2381 - 2450
KRKILCCITPQAPQCYAEYVTYTGSYLLDGKPLSKLHIPVIAPPPSLAEPLKELFRQQEAVRGKLRLQHS   2451 - 2520
IEREKLIVSCEQEILRVHCRAARTIANQAVPFSACTMLLDSEVYNMPLESQGDENKSVRDRFNARQFISW   2521 - 2590
LQDVDDKYDRMKTCLLMRQQHEAAALNAVQRMEWQLKVQELDPAGHKSLCVNEVPSFYVPMVDVNDDFVL   2591 - 2660
LPA                                                                      2661 - 2663
//

Text Mined References (31)

PMID Year Title