• Gene id: 57498

Gene Summary

• Gene Symbol: KIDINS220   Gene   UCSC   Ensembl
• Aliases: ARMS, SINO
• Gene name: kinase D interacting substrate 220
• Alternate names: kinase D-interacting substrate of 220 kDa, ankyrin repeat-rich membrane-spanning protein, kinase D-interacting substrate 220kDa,
• Gene location: 2p25.1 (8837612: 8721080)     Exons: 10     NC_000002.12
• Gene summary(Entrez): This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane recep
• OMIM: 615759

Protein Summary

• Protein general information: Q9ULH0  
  • Name: Kinase D interacting substrate of 220 kDa (Ankyrin repeat rich membrane spanning protein)
  • Length: 1771  
  • Mass: 196542
  • Tissue specificity: Abundant in developing and adult neural tissues as well as neuroendocrine cells and dendritic cells. Overexpressed in melanoma and melanoma cell lines. {ECO
• Sequence:

  MSVLISQSVINYVEEENIPALKALLEKCKDVDERNECGQTPLMIAAEQGNLEIVKELIKNGANCNLEDLDNWTAL
  ISASKEGHVHIVEELLKCGVNLEHRDMGGWTALMWACYKGRTDVVELLLSHGANPSVTGLYSVYPIIWAAGRGHA
  DIVHLLLQNGAKVNCSDKYGTTPLVWAARKGHLECVKHLLAMGADVDQEGANSMTALIVAVKGGYTQSVKEILKR
  NPNVNLTDKDGNTALMIASKEGHTEIVQDLLDAGTYVNIPDRSGDTVLIGAVRGGHVEIVRALLQKYADIDIRGQ
  DNKTALYWAVEKGNATMVRDILQCNPDTEICTKDGETPLIKATKMRNIEVVELLLDKGAKVSAVDKKGDTPLHIA
  IRGRSRKLAELLLRNPKDGRLLYRPNKAGETPYNIDCSHQKSILTQIFGARHLSPTETDGDMLGYDLYSSALADI
  LSEPTMQPPICVGLYAQWGSGKSFLLKKLEDEMKTFAGQQIEPLFQFSWLIVFLTLLLCGGLGLLFAFTVHPNLG
  IAVSLSFLALLYIFFIVIYFGGRREGESWNWAWVLSTRLARHIGYLELLLKLMFVNPPELPEQTTKALPVRFLFT
  DYNRLSSVGGETSLAEMIATLSDACEREFGFLATRLFRVFKTEDTQGKKKWKKTCCLPSFVIFLFIIGCIISGIT
  LLAIFRVDPKHLTVNAVLISIASVVGLAFVLNCRTWWQVLDSLLNSQRKRLHNAASKLHKLKSEGFMKVLKCEVE
  LMARMAKTIDSFTQNQTRLVVIIDGLDACEQDKVLQMLDTVRVLFSKGPFIAIFASDPHIIIKAINQNLNSVLRD
  SNINGHDYMRNIVHLPVFLNSRGLSNARKFLVTSATNGDVPCSDTTGIQEDADRRVSQNSLGEMTKLGSKTALNR
  RDTYRRRQMQRTITRQMSFDLTKLLVTEDWFSDISPQTMRRLLNIVSVTGRLLRANQISFNWDRLASWINLTEQW
  PYRTSWLILYLEETEGIPDQMTLKTIYERISKNIPTTKDVEPLLEIDGDIRNFEVFLSSRTPVLVARDVKVFLPC
  TVNLDPKLREIIADVRAAREQISIGGLAYPPLPLHEGPPRAPSGYSQPPSVCSSTSFNGPFAGGVVSPQPHSSYY
  SGMTGPQHPFYNRPFFAPYLYTPRYYPGGSQHLISRPSVKTSLPRDQNNGLEVIKEDAAEGLSSPTDSSRGSGPA
  PGPVVLLNSLNVDAVCEKLKQIEGLDQSMLPQYCTTIKKANINGRVLAQCNIDELKKEMNMNFGDWHLFRSTVLE
  MRNAESHVVPEDPRFLSESSSGPAPHGEPARRASHNELPHTELSSQTPYTLNFSFEELNTLGLDEGAPRHSNLSW
  QSQTRRTPSLSSLNSQDSSIEISKLTDKVQAEYRDAYREYIAQMSQLEGGPGSTTISGRSSPHSTYYMGQSSSGG
  SIHSNLEQEKGKDSEPKPDDGRKSFLMKRGDVIDYSSSGVSTNDASPLDPITEEDEKSDQSGSKLLPGKKSSERS
  SLFQTDLKLKGSGLRYQKLPSDEDESGTEESDNTPLLKDDKDRKAEGKVERVPKSPEHSAEPIRTFIKAKEYLSD
  ALLDKKDSSDSGVRSSESSPNHSLHNEVADDSQLEKANLIELEDDSHSGKRGIPHSLSGLQDPIIARMSICSEDK
  KSPSECSLIASSPEENWPACQKAYNLNRTPSTVTLNNNSAPANRANQNFDEMEGIRETSQVILRPSSSPNPTTIQ
  NENLKSMTHKRSQRSSYTRLSKDPPELHAAASSESTGFGEERESIL

• Structural information:
  • Protein Domains: (440..95-)
    (/note="KAP-NTPase")
  • Interpro: IPR002110  IPR020683  IPR036770  IPR011646  IPR013761  
  • Prosite: PS50297 PS50088
  • STRING: ENSP00000256707
• Other Databases: GeneCards:  KIDINS220  Malacards:  KIDINS220

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019887	protein kinase regulator activity	IBA	molecular function
GO:0038180	nerve growth factor signaling pathway	IBA	biological process
GO:0030165	PDZ domain binding	IBA	molecular function
GO:1990090	cellular response to nerve growth factor stimulus	ISS	biological process
GO:0032991	protein-containing complex	ISS	cellular component
GO:0038180	nerve growth factor signaling pathway	ISS	biological process
GO:0030165	PDZ domain binding	ISS	molecular function
GO:0010976	positive regulation of neuron projection development	ISS	biological process
GO:0005770	late endosome	ISS	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0000186	activation of MAPKK activity	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0048813	dendrite morphogenesis	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0005770	late endosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04722	Neurotrophin signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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