• Gene id: 26287

Gene Summary

• Gene Symbol: ANKRD2   Gene   UCSC   Ensembl
• Aliases: ARPP
• Gene name: ankyrin repeat domain 2
• Alternate names: ankyrin repeat domain-containing protein 2, ankyrin repeat domain 2 (stretch responsive muscle), skeletal muscle ankyrin repeat protein,
• Gene location: 10q24.2 (11197544: 11164266)     Exons: 13     NC_000019.10
• Gene summary(Entrez): 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. Altern
• OMIM: 610734

Protein Summary

• Protein general information: Q9GZV1  
  • Name: Ankyrin repeat domain containing protein 2 (Skeletal muscle ankyrin repeat protein) (hArpp)
  • Length: 360  
  • Mass: 39859
  • 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). {ECO
• Sequence:

  MAKAPSWAGVGALAYKAPEALWPAEAVMDGTMEDSEAVQRATALIEQRLAQEEENEKLRGDARQKLPMDLLVLED
  EKHHGAQSAALQKVKGQERVRKTSLDLRREIIDVGGIQNLIELRKKRKQKKRDALAASHEPPPEPEEITGPVDEE
  TFLKAAVEGKMKVIEKFLADGGSADTCDQFRRTALHRASLEGHMEILEKLLDNGATVDFQDRLDCTAMHWACRGG
  HLEVVKLLQSHGADTNVRDKLLSTPLHVAVRTGQVEIVEHFLSLGLEINARDREGDTALHDAVRLNRYKIIKLLL
  LHGADMMTKNLAGKTPTDLVQLWQADTRHALEHPEPGAEHNGLEGPNDSGRETPQPVPAQ

• Structural information:
  • Interpro: IPR002110  IPR020683  IPR036770  
  • Prosite: PS50297 PS50088
  • STRING: ENSP00000306163
• Other Databases: GeneCards:  ANKRD2  Malacards:  ANKRD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0061629	RNA polymerase II-specific DNA-binding transcription factor binding	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0045662	negative regulation of myoblast differentiation	IMP	biological process
GO:0043422	protein kinase B binding	IPI	molecular function
GO:0031674	I band	ISS	colocalizes with
GO:0000791	euchromatin	ISS	cellular component
GO:0006936	muscle contraction	NAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0061629	RNA polymerase II-specific DNA-binding transcription factor binding	IDA	molecular function
GO:0043619	regulation of transcription from RNA polymerase II promoter in response to oxidative stress	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IGI	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000791	euchromatin	IEA	cellular component
GO:0001817	regulation of cytokine production	IEA	biological process
GO:0003682	chromatin binding	IEA	molecular function
GO:0005829	cytosol	IEA	cellular component
GO:0010832	negative regulation of myotube differentiation	IEA	biological process
GO:0031432	titin binding	IEA	molecular function
GO:0031674	I band	IEA	cellular component
GO:0043422	protein kinase B binding	IEA	molecular function
GO:0045662	negative regulation of myoblast differentiation	IEA	biological process
GO:1902253	regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IEA	biological process
GO:2000291	regulation of myoblast proliferation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016605	PML body	IEA	cellular component
GO:0030016	myofibril	IEA	cellular component
GO:0030017	sarcomere	IEA	cellular component
GO:0035914	skeletal muscle cell differentiation	IEA	biological process
GO:0016605	PML body	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0031674	I band	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0008307	structural constituent of muscle	NAS	molecular function
GO:0007517	muscle organ development	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881