• Gene id: 445815

Gene Summary

• Gene Symbol: PALM2AKAP2   Gene   UCSC   Ensembl
• Aliases: AKAP-2, AKAP-KL, AKAP2, AKAPKL, MISP2, PALM2, PALM2-AKAP2, PRKA2
• Gene name: PALM2 and AKAP2 fusion
• Alternate names: A-kinase anchor protein 2, PALM2-AKAP2 protein, paralemmin-2, A kinase (PRKA) anchor protein 2, A-kinase anchoring protein 2, PALM2-AKAP2 fusion, PALM2-AKAP2 readthrough, paralemmin 2, protein kinase A anchoring protein 2, protein kinase A2,
• Gene location: 9q31.3 (109640787: 110172511)     Exons: 15     NC_000009.12
• Gene summary(Entrez): This gene belongs to the paralemmin downstream gene (PDG) family defined in PMID:22855693. Paralemmin downstream genes may have evolved contiguously with the paralemmin genes and are associated with other paralemmin paralogs in humans and several other ta
• OMIM: 604582

Protein Summary

• Protein general information: Q8IXS6  
  • Name: Paralemmin 2
  • Length: 379  
  • Mass: 42185
  • Tissue specificity: Expressed in infantile heart and muscle, and fibroblasts. {ECO
• Sequence:

  MEMAEAELHKERLQAIAEKRKRQTEIEGKRQQLDEQILLLQHSKSKVLREKWLLQGIPAGTAEEEEARRRQSEED
  EFRVKQLEDNIQRLEQEIQTLESEESQISAKEQIILEKLKETEKSFKDFQKGFSSTDGAVYAMEINVEKDKQTGE
  TKILSTSTIGPEGVHQKGVKVYDDGTKVVYEVRSGGTVVENGVHKLSTKDVEELIQKAGQSSLGGGHVSERTVIA
  DGSLSHPKEHMLCKEAKLEMVHKSRKDHSSGNPGQQAQAPSAAGPEANLDQPVTMIFMGYQNIEDEEETKKVLGY
  DETIKAELVLIDEDDEKSLREKTVTDVSTIDGNAAELVSGRPVSDTTEPSSPEGKEESLATEPAPGTQKKKRCQC
  CVVM

• Structural information:
  • Interpro: IPR004965  
  • STRING: ENSP00000323805
• Other Databases: GeneCards:  PALM2AKAP2  Malacards:  PALM2AKAP2
• Protein general information: Q9Y2D5  
  
  Name: A kinase anchor protein 2 (AKAP 2) (AKAP KL) (Protein kinase A anchoring protein 2) (PRKA2)
  
  Length: 859  Mass: 94661
• Sequence: MEIEVSVAECKSVPGITSTPHPMDHPSAFYSPPHNGLLTDHHESLDNDVAREIRYLDEVLEANCCDSAVDGTYNG
  TSSPEPGAVVLVGGLSPPVHEATQPEPTERTASRQAPPHIELSNSSPDPMAEAERTNGHSPSQPRDALGDSLQVP
  VSPSSTTSSRCSSRDGEFTLTTLKKEAKFELRAFHEDKKPSKLFEDDEHEKEQYCIRKVRPSEEMLELEKERREL
  IRSQAVKKNPGIAAKWWNPPQEKTIEEQLDEEHLESHKKYKERKERRAQQEQLLLQKQLQQQQQQPPSQLCTAPA
  SSHERASMIDKAKEDIVTEQIDFSAARKQFQLMENSRQAVAKGQSTPRLFSIKPFYRPLGSVNSDKPLTNPRPPS
  VGGPPEDSGASAAKGQKSPGALETPSAAGSQGNTASQGKEGPYSEPSKRGPLSKLWAEDGEFTSARAVLTVVKDD
  DHGILDQFSRSVNVSLTQEELDSGLDELSVRSQDTTVLETLSNDFSMDNISDSGASNETTNALQENSLADFSLPQ
  TPQTDNPSEGRGEGVSKSFSDHGFYSPSSTLGDSPLVDDPLEYQAGLLVQNAIQQAIAEQVDKAVSKTSRDGAEQ
  QGPEATVEEAEAAAFGSEKPQSMFEPPQVSSPVQEKRDVLPKILPAEDRALRERGPPQPLPAVQPSGPINMEETR
  PEGSYFSKYSEAAELRSTASLLATQESDVMVGPFKLRSRKQRTLSMIEEEIRAAQEREEELKRQRQVLQSTQSPR
  TKNAPSLPSRTCYKTAPGKIEKVKPPPSPTTEGPSLQPDLAPEEAAGTQRPKNLMQTLMEDYETHKSKRRERMDD
  SSVLEATRVNRRKSALALRWEAGIYANQEEEDNE
• Structural information:

  Interpro:	IPR029304
  STRING:	ENSP00000363654

• Other Databases: GeneCards:  PALM2AKAP2  Malacards:  PALM2AKAP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008360	regulation of cell shape	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R