Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57498
Gene name Gene Name - the full gene name approved by the HGNC.
Kinase D interacting substrate 220
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KIDINS220
Synonyms (NCBI Gene) Gene synonyms aliases
ARMS, SINO, VENARG
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SINO, VENARG
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p25.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs34141362 ->G Pathogenic Coding sequence variant, genic downstream transcript variant, frameshift variant, intron variant
rs1057519300 C>T Pathogenic Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs1057519301 G>A Pathogenic Stop gained, coding sequence variant, genic downstream transcript variant, intron variant
rs1057519302 ->A Pathogenic Frameshift variant, coding sequence variant, genic downstream transcript variant, intron variant
rs1131692229 GT>- Pathogenic Frameshift variant, coding sequence variant, genic downstream transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004136 hsa-miR-192-5p Microarray 16822819
MIRT028539 hsa-miR-30a-5p Proteomics 18668040
MIRT031689 hsa-miR-16-5p Proteomics 18668040
MIRT032342 hsa-let-7b-5p Proteomics 18668040
MIRT042589 hsa-miR-423-3p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000186 Process Activation of MAPKK activity TAS
GO:0001701 Process In utero embryonic development IEA
GO:0005770 Component Late endosome ISS
GO:0005829 Component Cytosol TAS
GO:0010976 Process Positive regulation of neuron projection development ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
615759 29508 ENSG00000134313
Protein
UniProt ID Q9ULH0
Protein name Kinase D-interacting substrate of 220 kDa (Ankyrin repeat-rich membrane-spanning protein)
Protein function Promotes a prolonged MAP-kinase signaling by neurotrophins through activation of a Rap1-dependent mechanism. Provides a docking site for the CRKL-C3G complex, resulting in Rap1-dependent sustained ERK activation. May play an important role in re
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12796 Ank_2 6 68 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 67 134 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 136 200 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 193 266 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 263 334 Ankyrin repeats (3 copies) Repeat
PF12796 Ank_2 306 396 Ankyrin repeats (3 copies) Repeat
PF07693 KAP_NTPase 440 953 KAP family P-loop domain Domain
Tissue specificity 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:0000269|PubMed:18089783}.
Sequence
MSVLISQSVINYVEEENIPALKALLEKCKDVDERNECGQTPLMIAAEQGNLEIVKELIKN
GANCNL
EDLDNWTALISASKEGHVHIVEELLKCGVNLEHRDMGGWTALMWACYKGRTDVV
ELLLSHGANPSVTG
LYSVYPIIWAAGRGHADIVHLLLQNGAKVNCSDKYGTTPLVWAARK
GHLECVKHLLAM
GADVDQEGANSMTALIVAVKGGYTQSVKEILKRNPNVNLTDKDGNTAL
MIASKEGHTEIVQDLLDAGTYVNIPDRSGDTVLIGAVRGGHVEIVRALLQKYADIDIRGQ
DNKTALYWAVEKGNATMVRDILQCNPDTEICTKDGETPLIKATKMRNIEVVELLLDKGAK
VSAVDKKGDTPLHIAIRGRSRKLAELLLRNPKDGRL
LYRPNKAGETPYNIDCSHQKSILT
QIFGARHLSPTETDGDMLGYDLYSSALADILSEPTMQPPICVGLYAQWGSGKSFLLKKLE
DEMKTFAGQQIEPLFQFSWLIVFLTLLLCGGLGLLFAFTVHPNLGIAVSLSFLALLYIFF
IVIYFGGRREGESWNWAWVLSTRLARHIGYLELLLKLMFVNPPELPEQTTKALPVRFLFT
DYNRLSSVGGETSLAEMIATLSDACEREFGFLATRLFRVFKTEDTQGKKKWKKTCCLPSF
VIFLFIIGCIISGITLLAIFRVDPKHLTVNAVLISIASVVGLAFVLNCRTWWQVLDSLLN
SQRKRLHNAASKLHKLKSEGFMKVLKCEVELMARMAKTIDSFTQNQTRLVVIIDGLDACE
QDKVLQMLDTVRVLFSKGPFIAIFASDPHIIIKAINQNLNSVLRDSNINGHDYMRNIVHL
PVFLNSRGLSNARKFLVTSATNGDVPCSDTTGIQEDADRRVSQNSLGEMTKLGSKTALNR
RDTYRRRQMQRTITRQMSFDLTKLLVTEDWFSDISPQTMRRLLNIVSVTGRLL
RANQISF
NWDRLASWINLTEQWPYRTSWLILYLEETEGIPDQMTLKTIYERISKNIPTTKDVEPLLE
IDGDIRNFEVFLSSRTPVLVARDVKVFLPCTVNLDPKLREIIADVRAAREQISIGGLAYP
PLPLHEGPPRAPSGYSQPPSVCSSTSFNGPFAGGVVSPQPHSSYYSGMTGPQHPFYNRPF
FAPYLYTPRYYPGGSQHLISRPSVKTSLPRDQNNGLEVIKEDAAEGLSSPTDSSRGSGPA
PGPVVLLNSLNVDAVCEKLKQIEGLDQSMLPQYCTTIKKANINGRVLAQCNIDELKKEMN
MNFGDWHLFRSTVLEMRNAESHVVPEDPRFLSESSSGPAPHGEPARRASHNELPHTELSS
QTPYTLNFSFEELNTLGLDEGAPRHSNLSWQSQTRRTPSLSSLNSQDSSIEISKLTDKVQ
AEYRDAYREYIAQMSQLEGGPGSTTISGRSSPHSTYYMGQSSSGGSIHSNLEQEKGKDSE
PKPDDGRKSFLMKRGDVIDYSSSGVSTNDASPLDPITEEDEKSDQSGSKLLPGKKSSERS
SLFQTDLKLKGSGLRYQKLPSDEDESGTEESDNTPLLKDDKDRKAEGKVERVPKSPEHSA
EPIRTFIKAKEYLSDALLDKKDSSDSGVRSSESSPNHSLHNEVADDSQLEKANLIELEDD
SHSGKRGIPHSLSGLQDPIIARMSICSEDKKSPSECSLIASSPEENWPACQKAYNLNRTP
STVTLNNNSAPANRANQNFDEMEGIRETSQVILRPSSSPNPTTIQNENLKSMTHKRSQRS
SYTRLSKDPPELHAAASSESTGFGEERESIL
Sequence length 1771
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Neurotrophin signaling pathway   ARMS-mediated activation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay, Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Obesity Obesity rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562
View all (27 more)
Associations from Text Mining
Disease Name Relationship Type References
Agenesis of Cerebellar Vermis Associate 31577543
Agenesis of Corpus Callosum Associate 40317787
Apraxia oculomotor Cogan type Associate 31577543
Cognition Disorders Associate 27211562
Developmental Disabilities Associate 31577543, 40317787
Glioma Associate 38035704
Hydrocephalus Associate 40317787
Intellectual Disability Associate 31577543
Melanoma Associate 38035704
Motor Neuron Disease Associate 40317787