• Gene id: 84632

Gene Summary

• Gene Symbol: AFAP1L2   Gene   UCSC   Ensembl
• Aliases: CTB-1144G6.4, KIAA1914, XB130
• Gene name: actin filament associated protein 1 like 2
• Alternate names: actin filament-associated protein 1-like 2, AFAP1-like protein 2, CTB-1144G6.6,
• Gene location: 10q25.3 (124954120: 125041488)     Exons: 18     NC_000011.10
• OMIM: 612420

Protein Summary

• Protein general information: Q8N4X5  
  • Name: Actin filament associated protein 1 like 2 (AFAP1 like protein 2)
  • Length: 818  
  • Mass: 91300
  • Tissue specificity: Detected in spleen and thyroid, and at lower levels in kidney, brain, lung and pancreas. {ECO
• Sequence:

  MERYKALEQLLTELDDFLKILDQENLSSTALVKKSCLAELLRLYTKSSSSDEEYIYMNKVTINKQQNAESQGKAP
  EEQGLLPNGEPSQHSSAPQKSLPDLPPPKMIPERKQLAIPKTESPEGYYEEAEPYDTSLNEDGEAVSSSYESYDE
  EDGSKGKSAPYQWPSPEAGIELMRDARICAFLWRKKWLGQWAKQLCVIKDNRLLCYKSSKDHSPQLDVNLLGSSV
  IHKEKQVRKKEHKLKITPMNADVIVLGLQSKDQAEQWLRVIQEVSGLPSEGASEGNQYTPDAQRFNCQKPDIAEK
  YLSASEYGSSVDGHPEVPETKDVKKKCSAGLKLSNLMNLGRKKSTSLEPVERSLETSSYLNVLVNSQWKSRWCSV
  RDNHLHFYQDRNRSKVAQQPLSLVGCEVVPDPSPDHLYSFRILHKGEELAKLEAKSSEEMGHWLGLLLSESGSKT
  DPEEFTYDYVDADRVSCIVSAAKNSLLLMQRKFSEPNTYIDGLPSQDRQEELYDDVDLSELTAAVEPTEEATPVA
  DDPNERESDRVYLDLTPVKSFLHGPSSAQAQASSPTLSCLDNATEALPADSGPGPTPDEPCIKCPENLGEQQLES
  LEPEDPSLRITTVKIQTEQQRISFPPSCPDAVVATPPGASPPVKDRLRVTSAEIKLGKNRTEAEVKRYTEEKERL
  EKKKEEIRGHLAQLRKEKRELKETLLKCTDKEVLASLEQKLKEIDEECRGEESRRVDLELSIMEVKDNLKKAEAG
  PVTLGTTVDTTHLENVSPRPKAVTPASAPDCTPVNSATTLKNRPLSVVVTGKGTVLQKAKEWEKKGAS

• Structural information:
  • Protein Domains: (175..27-)
    (/note="PH-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (353..44-)
    (/note="PH-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR030113  IPR030115  IPR011993  IPR001849  
  • Prosite: PS50003
  • PDB: 2COF
  • PDBsum: 2COF
  • STRING: ENSP00000303042
• Other Databases: GeneCards:  AFAP1L2  Malacards:  AFAP1L2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006954	inflammatory response	IDA	biological process
GO:0007346	regulation of mitotic cell cycle	IDA	biological process
GO:0030296	protein tyrosine kinase activator activity	IDA	molecular function
GO:0017124	SH3 domain binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0032757	positive regulation of interleukin-8 production	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0042169	SH2 domain binding	IPI	molecular function
GO:0032675	regulation of interleukin-6 production	IDA	biological process
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	IDA	biological process
GO:0006954	inflammatory response	IBA	biological process
GO:0007346	regulation of mitotic cell cycle	IBA	biological process
GO:0032675	regulation of interleukin-6 production	IBA	biological process
GO:0042169	SH2 domain binding	IBA	molecular function
GO:0045742	positive regulation of epidermal growth factor receptor signaling pathway	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0017124	SH3 domain binding	IBA	molecular function
GO:0032757	positive regulation of interleukin-8 production	IBA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0035591	signaling adaptor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0009966	regulation of signal transduction	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0061098	positive regulation of protein tyrosine kinase activity	IEA	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq