Aliases for ANKRD2 Gene
Aliases for ANKRD2 Gene
External Ids for ANKRD2 Gene
- HGNC: 495
- Entrez Gene: 26287
- Ensembl: ENSG00000165887
- OMIM: 610734
- UniProtKB: Q9GZV1
Previous GeneCards Identifiers for ANKRD2 Gene
- GC10P098225
- GC10P098565
- GC10P099463
- GC10P098996
- GC10P099322
- GC10P092958
Summaries for ANKRD2 Gene
-
This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
GeneCards Summary for ANKRD2 Gene
ANKRD2 (Ankyrin Repeat Domain 2) is a Protein Coding gene. GO annotations related to this gene include structural constituent of muscle and protein kinase B binding. An important paralog of this gene is ANKRD1.
UniProtKB/Swiss-Prot for ANKRD2 Gene
-
Functions as a negative regulator of myocyte differentiation. May interact with both sarcoplasmic structural proteins and nuclear proteins to regulate gene expression during muscle development and in response to muscle stress.
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANKRD2 Gene
Genomics for ANKRD2 Gene
Regulatory Elements for ANKRD2 Gene
Enhancers for ANKRD2 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around ANKRD2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the ANKRD2 gene promoter:
Regulatory Element Products
Genomic Location for ANKRD2 Gene
- Chromosome:
- 10
- Start:
- 97,572,441 bp from pter
- End:
- 97,583,884 bp from pter
- Size:
- 11,444 bases
- Orientation:
- Plus strand
Genomic View for ANKRD2 Gene
Genes around ANKRD2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10q24.2 by Ensembl
- 10q24.2 by Entrez Gene
- 10q24.2 by HGNC
ANKRD2 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 ANKRD2 Gene
Proteins for ANKRD2 Gene
-
Protein details for ANKRD2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9GZV1-ANKR2_HUMAN
- Recommended name:
- Ankyrin repeat domain-containing protein 2
- Protein Accession:
- Q9GZV1
- Q3B778
- Q5T456
- Q70EZ9
- Q8WUD7
- Q96MG0
- Q9NQC9
Protein attributes for ANKRD2 Gene
- Size:
- 360 amino acids
- Molecular mass:
- 39859 Da
- Quaternary structure:
-
- Interacts with ID3; both proteins cooperate in myoblast differentiation (By similarity). Interacts with TTN/titin. Interacts (via ANK repeats) with TCAP; the interaction is direct. Interacts with TJP1 (via PDZ domains). Interacts with PML; the interaction is direct. Interacts with p53/TP53. Interacts with YBX1. Interacts with AKT2.
- SequenceCaution:
-
- Sequence=AK056990; Type=Erroneous termination; Positions=210; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=BAB60958.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAC19411.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAC19412.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAE47432.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for ANKRD2 Gene
Post-translational modifications for ANKRD2 Gene
- Phosphorylation at Ser-99 by PKB/AKT2 in response to oxidative stress induces translocation to the nucleus and negatively regulates myoblast differentiation.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for ANKRD2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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- GeneTex ANKRD2 antibody for ANKRD2
Protein Products
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Assay Products
- antibodies-online Kits for ANKRD2: See all 9
No data available for DME Specific Peptides for ANKRD2 Gene
Domains & Families for ANKRD2 Gene
Gene Families for ANKRD2 Gene
Protein Domains for ANKRD2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ANKRD2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for ANKRD2 Gene
Function for ANKRD2 Gene
Molecular function for ANKRD2 Gene
- UniProtKB/Swiss-Prot Function:
- Functions as a negative regulator of myocyte differentiation. May interact with both sarcoplasmic structural proteins and nuclear proteins to regulate gene expression during muscle development and in response to muscle stress.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003682 | chromatin binding | IEA | -- |
| GO:0008307 | structural constituent of muscle | NAS | 11444853 |
| GO:0031432 | titin binding | IBA | -- |
| GO:0043422 | protein kinase B binding | IPI | 21737686 |
| GO:0061629 | RNA polymerase II sequence-specific DNA binding transcription factor binding | IDA | 24434510 |
Phenotypes for ANKRD2 Gene
- MGI mutant phenotypes for ANKRD2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ANKRD2:
Animal Models for ANKRD2 Gene
- MGI Knock Outs for ANKRD2:
-
- Ankrd2 tm1Krc
Animal Model Products
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CRISPR Products
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miRNA for ANKRD2 Gene
- miRTarBase miRNAs that target ANKRD2
miRNA Products
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Inhibitory RNA Products
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
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-
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANKRD2 Gene
Localization for ANKRD2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ANKRD2 Gene
- Cytoplasm, myofibril, sarcomere, I band. Cytoplasm, cytosol. Nucleus. Nucleus, PML body. Note=In the sarcoplasm of differentiated striated muscle cells, where it is cytosolic and enriched in the I band. In nucleus and PML bodies of proliferating and undifferentiated myoblasts. Associates with the euchromatin in the nucleus of myocytes upon muscle stress.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 1 |
| cytoskeleton | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000791 | euchromatin | ISS | -- |
| GO:0005634 | nucleus | IEA,IDA | 21737686 |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA,IEA | 21737686 |
| GO:0016605 | PML body | IEA | -- |
Pathways & Interactions for ANKRD2 Gene
No Data Available
Interacting Proteins for ANKRD2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | IGI | 24434510 |
| GO:0001817 | regulation of cytokine production | IEA | -- |
| GO:0006936 | muscle contraction | NAS | 10873377 |
| GO:0007517 | muscle organ development | NAS | 11444853 |
| GO:0010832 | negative regulation of myotube differentiation | IEA | -- |
No data available for Pathways by source for ANKRD2 Gene
Transcripts for ANKRD2 Gene
mRNA/cDNA for ANKRD2 Gene
- (6) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (86) Selected AceView cDNA sequences:
- (4) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ANKRD2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for ANKRD2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ANKRD2
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miRNA Products
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Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for ANKRD2
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-
ViGene Biosciences ready-to-package AAV shRNAs for ANKRD2 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ANKRD2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ANKRD2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||||
| SP2: | - |
Expression for ANKRD2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Skeletal Muscle (Muscoskeletal System)
- Multinuclear Myocytes Anterior Neck Muscles
- Multinuclear Myocytes Forelimb Dorsal Muscles
- Multinuclear Myocytes Trunk Muscles
- Multinuclear Myocytes Hindlimb Ventral Muscle
- Multinuclear Myocytes Lumbar Vertebrae Column Muscles
-
Limb (Muscoskeletal System)
- Multinuclear Myocytes Forelimb Dorsal Muscles
- Multinuclear Myocytes Hindlimb Ventral Muscle
- Multinuclear Myocytes Forelimb Ventral Muscles
- Multinuclear Myocytes Hindlimb Dorsal Muscle
mRNA differential expression in normal tissues according to GTEx for ANKRD2 Gene
This gene is overexpressed in Muscle - Skeletal (x30.8) and Heart - Left Ventricle (x18.3).
This gene is overexpressed in Heart (35.0), Tonsil (17.3), and Oral epithelium (15.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ANKRD2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ANKRD2 Gene:
ANKRD2SOURCE GeneReport for Unigene cluster for ANKRD2 Gene:
Hs.73708mRNA Expression by UniProt/SwissProt for ANKRD2 Gene:
Q9GZV1-ANKR2_HUMAN
Tissue specificity:
Mostly expressed in skeletal and cardiac muscles. Found in slow fibers. Also expressed in kidney, but to a lower extent (at protein level).
Evidence on tissue expression from TISSUES for ANKRD2 Gene
- Muscle(4.9)
- Heart(4.5)
Primer Products
-
OriGene qPCR primer pairs for ANKRD2
-
OriGene qPCR primer pairs and template standards for ANKRD2
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ANKRD2 Gene
Orthologs for ANKRD2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ANKRD2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ANKRD2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ANKRD2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Ankrd2 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ankrd2 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ANKRD2 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | ANKRD2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ANKRD2 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ANKRD2 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ankrd2 34 |
|
||
| Str.12117 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | ankrd2-prov 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | LOC101886079 34 |
|
||
| ankrd2 35 |
|
OneToOne | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToMany |
- Species where no ortholog for ANKRD2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
- fruit fly (Drosophila melanogaster)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- 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)
Paralogs for ANKRD2 Gene
Variants for ANKRD2 Gene
| SNP ID | Clin | Chr 10 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000304628 | -- | 97,570,965(+) | AACCA(C/T)CCGTG | upstream-variant-2KB, utr-variant-3-prime | |
| rs1000362212 | -- | 97,571,155(+) | GGTCC(C/T)TGTGG | upstream-variant-2KB, utr-variant-3-prime | |
| rs1000422942 | -- | 97,581,263(+) | ACCCC(C/T)GAATA | intron-variant | |
| rs1000838610 | -- | 97,583,872(+) | AAAAG(C/T)TGTTT | upstream-variant-2KB, utr-variant-3-prime | |
| rs1001387327 | -- | 97,581,250(+) | GCTGG(A/G)GTACA | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1036494 | CNV | gain | 25217958 |
| nsv1047359 | CNV | gain | 25217958 |
| nsv1110852 | OTHER | inversion | 24896259 |
| nsv7509 | CNV | insertion | 18451855 |
| nsv818782 | CNV | loss | 17921354 |
Residual Variation Intolerance Score:
66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.73;
32.79% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for ANKRD2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ANKRD2
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANKRD2 Gene
Disorders for ANKRD2 Gene
Relevant External Links for ANKRD2
No disorders were found for ANKRD2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ANKRD2 Gene
Publications for ANKRD2 Gene
- The Ankrd2 protein, a link between the sarcomere and the nucleus in skeletal muscle. (PMID: 15136035) Kojic S. … Faulkner G. (J. Mol. Biol. 2004) 2 3 4 22 64
- Identification of Ankrd2, a novel skeletal muscle gene coding for a stretch-responsive ankyrin-repeat protein. (PMID: 10873377) Kemp T.J. … Coulton G.R. (Genomics 2000) 2 3 4 22 64
- Ankrd2/ARPP is a novel Akt2 specific substrate and regulates myogenic differentiation upon cellular exposure to H(2)O(2). (PMID: 21737686) Cenni V. … Marmiroli S. (Mol. Biol. Cell 2011) 3 4 64
- Multi-tasking role of the mechanosensing protein Ankrd2 in the signaling network of striated muscle. (PMID: 22016770) Belgrano A. … Faulkner G. (PLoS ONE 2011) 3 4 64
- A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 46 64
Products for ANKRD2 Gene
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- VectorBuilder custom plasmid, inducible vectors for ANKRD2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ANKRD2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for ANKRD2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
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- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
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- (130) MedlinePlus
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- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer