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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. Alt... See more...
Aliases for ANKRD11 Gene
Aliases for ANKRD11 Gene
External Ids for ANKRD11 Gene
- HGNC: 21316
- Entrez Gene: 29123
- Ensembl: ENSG00000167522
- OMIM: 611192
- UniProtKB: Q6UB99
Previous GeneCards Identifiers for ANKRD11 Gene
- GC16M089095
- GC16M089077
- GC16M087861
- GC16M089334
- GC16M075032
Summaries for ANKRD11 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 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]
GeneCards Summary for ANKRD11 Gene
ANKRD11 (Ankyrin Repeat Domain 11) is a Protein Coding gene. Diseases associated with ANKRD11 include Kbg Syndrome and Astigmatism.
UniProtKB/Swiss-Prot Summary for ANKRD11 Gene
-
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).
Additional gene information for ANKRD11 Gene
- HGNC(21316)
- Entrez Gene(29123)
- Ensembl(ENSG00000167522)
- OMIM(611192)
- UniProtKB(Q6UB99)
- Open Targets Platform(ENSG00000167522)
- Monarch Initiative
- Search for ANKRD11 at DataMed
- Search for ANKRD11 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ANKRD11 Gene
Genomics for ANKRD11 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ANKRD11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ANKRD11 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANKRD11
- Top Transcription factor binding sites by QIAGEN in the ANKRD11 gene promoter:
-
- AP-1
- ARP-1
- ATF-2
- c-Jun
- NF-kappaB1
- Pax-5
Genomic Locations for ANKRD11 Gene
Genomic Locations for ANKRD11 Gene
- chr16:89,267,619-89,490,561
- (GRCh38/hg38)
- Size:
- 222,943 bases
- Orientation:
- Minus strand
- chr16:89,334,035-89,556,969
- (GRCh37/hg19)
- Size:
- 222,935 bases
- Orientation:
- Minus strand
Genomic View for ANKRD11 Gene
Genes around ANKRD11 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16q24.3 by HGNC
- 16q24.3 by Entrez Gene
- 16q24.3 by Ensembl
ANKRD11 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ANKRD11 Gene
Proteins for ANKRD11 Gene
-
Protein details for ANKRD11 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q6UB99-ANR11_HUMAN
- Recommended name:
- Ankyrin repeat domain-containing protein 11
- Protein Accession:
- Q6UB99
- Q6NTG1
- Q6QMF8
Protein attributes for ANKRD11 Gene
- Size:
- 2663 amino acids
- Molecular mass:
- 297913 Da
- Quaternary structure:
-
- Interacts with the PAS region of the p160 coactivators.
- SequenceCaution:
-
- Sequence=AAH69013.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
Protein Expression for ANKRD11 Gene
Post-translational modifications for ANKRD11 Gene
- Subject to proteasomal degradation which is probably essential to regulate its activity.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for ANKRD11 Gene
- ENSEMBL proteins:
-
- ENSP00000301030
- ENSP00000367581
- ENSP00000496476
- ENSP00000330815
- ENSP00000495226
- ENSP00000493644
- ENSP00000454550
- ENSP00000367583
- ENSP00000496419
- ENSP00000495449
- ENSP00000495181
- ENSP00000495124
- ENSP00000496651
- ENSP00000495608
- ENSP00000494850
- ENSP00000493980
- ENSP00000495399
- ENSP00000496367
- ENSP00000495975
- ENSP00000496656
- ENSP00000495522
- ENSP00000455008
- ENSP00000495743
- ENSP00000496636
- ENSP00000478018
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for ANKRD11
-
Abcam antibodies for ANKRD11
- Invitrogen Antibodies for ANKRD11 (AFLGC-ANKRD11)
-
Santa Cruz Biotechnology (SCBT) Antibodies for ANKRD11
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ANKRD11
- Origene Custom Protein Services for ANKRD11
- Novus Biologicals proteins for ANKRD11
No data available for DME Specific Peptides for ANKRD11 Gene
Domains & Families for ANKRD11 Gene
Gene Families for ANKRD11 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for ANKRD11 Gene
- InterPro:
- Blocks:
-
- Ankyrin repeat signature
- ProtoNet:
Suggested Antigen Peptide Sequences for ANKRD11 Gene
- GenScript: Design optimal peptide antigens:
-
- Ankyrin repeat-containing cofactor 1 (ANR11_HUMAN)
- ANKRD11 protein (Q6PEL2_HUMAN)
- Medulloblastoma antigen MU-MB-20.240 (Q7Z5E5_HUMAN)
- ANKRD11 protein (Q8IVY9_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ANKRD11 Gene
Function for ANKRD11 Gene
Molecular function for ANKRD11 Gene
- UniProtKB/Swiss-Prot 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 transactivation (PubMed:15184363). Has a role in proliferation and development of cortical neural precursors (PubMed:25556659). May also regulate bone homeostasis (By similarity).
Phenotypes From GWAS Catalog for ANKRD11 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA | -- |
Phenotypes for ANKRD11 Gene
- MGI mutant phenotypes for ANKRD11:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ANKRD11:
Animal Models for ANKRD11 Gene
- MGI Knock Outs for ANKRD11:
-
- Ankrd11 Ankrd11<tm1b(EUCOMM)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ANKRD11 - Select products 50% OFF >
- * ANKRD11 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ANKRD11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ANKRD11
-
Santa Cruz Biotechnology (SCBT) CRISPR for ANKRD11
miRNA for ANKRD11 Gene
- miRTarBase miRNAs that target ANKRD11
-
- mmu-miR-758-3p (MIRT007495)
- mmu-miR-26a-5p (MIRT011115)
- hsa-miR-335-5p (MIRT019021)
- hsa-miR-98-5p (MIRT027843)
- hsa-miR-1914-3p (MIRT035776)
- hsa-miR-615-3p (MIRT040440)
- hsa-miR-193b-3p (MIRT041338)
- hsa-miR-186-5p (MIRT045278)
- hsa-miR-149-5p (MIRT045610)
- hsa-miR-4699-3p (MIRT481932)
- hsa-miR-4766-5p (MIRT481933)
- hsa-miR-548ah-5p (MIRT481934)
- hsa-miR-3609 (MIRT481935)
- hsa-miR-582-5p (MIRT481936)
- hsa-miR-101-3p (MIRT481937)
- hsa-miR-144-3p (MIRT481938)
- hsa-miR-527 (MIRT481939)
- hsa-miR-518a-5p (MIRT481940)
- hsa-miR-548aw (MIRT481941)
- hsa-miR-4684-3p (MIRT481942)
- hsa-miR-143-5p (MIRT481943)
- hsa-miR-3944-5p (MIRT481944)
- hsa-miR-1468-3p (MIRT481945)
- hsa-miR-548x-5p (MIRT481946)
- hsa-miR-548g-5p (MIRT481947)
- hsa-miR-548f-5p (MIRT481948)
- hsa-miR-548aj-5p (MIRT481949)
- hsa-miR-605-3p (MIRT481950)
- hsa-miR-8067 (MIRT481951)
- hsa-miR-6508-5p (MIRT481952)
- hsa-miR-3154 (MIRT481953)
- hsa-miR-8066 (MIRT481954)
- hsa-miR-3714 (MIRT481955)
- hsa-miR-6809-5p (MIRT503157)
- hsa-miR-4330 (MIRT503158)
- hsa-miR-4698 (MIRT503159)
- hsa-miR-651-3p (MIRT503160)
- hsa-miR-4311 (MIRT503161)
- hsa-miR-365b-3p (MIRT503162)
- hsa-miR-365a-3p (MIRT503163)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ANKRD11
- Browse OriGene Inhibitory RNA Products For ANKRD11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD11
Clone Products
- Applied Biological Materials (abm): Clones for ANKRD11 - Select products 50% OFF >
- * ANKRD11 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ANKRD11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ANKRD11
Cell Line Products
-
Horizon Cell Lines for ANKRD11
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ANKRD11 Gene
Localization for ANKRD11 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ANKRD11 Gene
- Nucleus. Note=Localizes to chromatin during prometaphase. {ECO:0000269 PubMed:25413698}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
- Cytosol (4)
- Nucleoplasm (4)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 21782149 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005829 | cytosol | IDA | -- |
| GO:0005886 | plasma membrane | IDA | -- |
Pathways & Interactions for ANKRD11 Gene
Interacting Proteins for ANKRD11 Gene
GPS-Prot Interaction Network for ANKRD11
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001701 | in utero embryonic development | IEA | -- |
| GO:0001894 | tissue homeostasis | IEA | -- |
| GO:0009653 | anatomical structure morphogenesis | IBA | 21873635 |
| GO:0035264 | multicellular organism growth | IEA | -- |
| GO:0042475 | odontogenesis of dentin-containing tooth | IMP | 21782149 |
No data available for Pathways by source and SIGNOR curated interactions for ANKRD11 Gene
Transcripts for ANKRD11 Gene
mRNA/cDNA for ANKRD11 Gene
- 3 REFSEQ mRNAs :
- 26 NCBI additional mRNA sequence :
- 42 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000301030 9301 nts (view in UCSC)
- ENST00000378330 9131 nts (view in UCSC)
- ENST00000644285 2043 nts (view in UCSC)
- ENST00000330736 8661 nts (view in UCSC)
- ENST00000642600 8724 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ANKRD11 - Select products 50% OFF >
- * ANKRD11 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ANKRD11
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ANKRD11
-
Santa Cruz Biotechnology (SCBT) CRISPR for ANKRD11
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ANKRD11
- Browse OriGene Inhibitory RNA Products For ANKRD11
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANKRD11
Clone Products
- Applied Biological Materials (abm): Clones for ANKRD11 - Select products 50% OFF >
- * ANKRD11 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ANKRD11
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ANKRD11
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c | · | 9d | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | · | 13c | ^ | 14a | · | 14b | ^ | 15a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: |
| ExUns: | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||
| SP2: | |||||||||||
| SP3: | |||||||||||
| SP4: | |||||||||||
| SP5: | |||||||||||
| SP6: | |||||||||||
| SP7: | |||||||||||
| SP8: | |||||||||||
| SP9: | |||||||||||
| SP10: | |||||||||||
| SP11: | |||||||||||
| SP12: | |||||||||||
| SP13: |
Relevant External Links for ANKRD11 Gene
- GeneLoc Exon Structure for
- ANKRD11
Expression for ANKRD11 Gene
This gene is overexpressed in Fetal gut (33.6) and Liver (29.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ANKRD11 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ANKRD11
SOURCE GeneReport for Unigene cluster for ANKRD11 Gene:
Hs.740440Evidence on tissue expression from TISSUES for ANKRD11 Gene
- Pancreas(4.4)
- Nervous system(3.1)
- Lymph node(3.1)
- Intestine(2.9)
- Skin(2.8)
- Muscle(2.6)
- Heart(2.5)
- Blood(2.4)
- Liver(2.4)
- Kidney(2.4)
- Spleen(2.3)
- Thyroid gland(2.2)
- Bone marrow(2.1)
- Lung(2.1)
- Gall bladder(2.1)
- Stomach(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD11 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cheek
- chin
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- mouth
- neck
- nose
- outer ear
- scalp
- skull
- tooth
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Pelvis:
- pelvis
- testicle
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- coagulation system
- hair
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for ANKRD11
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for ANKRD11 Gene
Orthologs for ANKRD11 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ANKRD11 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ANKRD11 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ankrd11 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ANKRD11 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ankrd11 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ANKRD11 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ANKRD11 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ANKRD11 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ANKRD11 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ankrd11 30 |
|
||
| Str.20224 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.23820 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ankrd11 30 31 |
|
OneToOne | |
| wufi04c06 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5161 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG10984 31 |
|
OneToMany |
- Species where no ortholog for ANKRD11 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for ANKRD11 Gene
- ENSEMBL:
- Gene Tree for ANKRD11 (if available)
- TreeFam:
- Gene Tree for ANKRD11 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ANKRD11: view image
Paralogs for ANKRD11 Gene
(6) SIMAP similar genes for ANKRD11 Gene using alignment to 9 proteins:
- ANR11_HUMAN
- H0Y2U4_HUMAN
- H0Y3E3_HUMAN
- H3BNU4_HUMAN
- H3BVB8_HUMAN
- L0R6C4_HUMAN
- Q6PEL2_HUMAN
- Q7Z5E5_HUMAN
- Q8IVY9_HUMAN
Pseudogenes.org Pseudogenes for ANKRD11 Gene
No data available for Paralogs for ANKRD11 Gene
Variants for ANKRD11 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANKRD11 Gene
| SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 633543 | Likely Pathogenic: not provided | 89,285,255(-) | CGA/C | FRAMESHIFT_VARIANT | |
| 633578 | Pathogenic/Likely Pathogenic: KBG syndrome; not provided | 89,285,157(-) | GTTTC/G | FRAMESHIFT_VARIANT | |
| 635858 | Likely Pathogenic: Neurodevelopmental disorder | 89,282,656(-) | A/AGTCT | FRAMESHIFT_VARIANT | |
| 643898 | Uncertain Significance: KBG syndrome | 89,305,316(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
| 645982 | Pathogenic: KBG syndrome | 89,284,087(-) | T/TA | NONSENSE |
Residual Variation Intolerance Score:
0.62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.49;
77.55% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ANKRD11 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD11 Gene
Disorders for ANKRD11 Gene
(23) MalaCards diseases for ANKRD11 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| kbg syndrome |
|
|
| astigmatism |
|
|
| esotropia |
|
|
| epicanthus |
|
|
| nervous system disease |
|
|
Search ANKRD11 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ANR11_HUMAN- KBG syndrome (KBGS) [MIM:148050]: A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability. {ECO:0000269 PubMed:21782149, ECO:0000269 PubMed:25413698}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for ANKRD11
- Genetic Association Database
- (GAD)
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No data available for Genatlas for ANKRD11 Gene
Publications for ANKRD11 Gene
- Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. (PMID: 25413698) Walz K … Tekin M (Human genetics 2015) 3 4
- Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. (PMID: 21782149) Sirmaci A … Tekin M (American journal of human genetics 2011) 3 4
- Identification of ANKRD11 as a p53 coactivator. (PMID: 18840648) Neilsen PM … Callen DF (Journal of cell science 2008) 3 23
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
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