Gene Gene information from NCBI Gene database.
Entrez ID 57498
Gene name Kinase D interacting substrate 220
Gene symbol KIDINS220
Synonyms (NCBI Gene)
ARMSSINOVENARG
Chromosome 2
Chromosome location 2p25.1
Summary 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.
8
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.
425
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0001701 Process In utero embryonic development IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005768 Component Endosome IEA
GO:0005770 Component Late endosome IEA
GO:0005770 Component Late endosome ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615759 29508 ENSG00000134313
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
404
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cerebral palsy Likely pathogenic rs2147944830 RCV001796576
KCNA1-related disorder Likely pathogenic rs2147947336 RCV003388188
KIDINS220-related disorder Pathogenic; Likely pathogenic rs1673531830, rs1438054052 RCV004741590
RCV003419215
Spastic paraplegia, intellectual disability, nystagmus, and obesity Pathogenic; Likely pathogenic rs2147945425, rs1664428695, rs2147945457, rs1666821581, rs2527616848, rs2527403784, rs755294265, rs2527407129, rs1057519300, rs1057519301, rs1057519302, rs1553305080, rs34141362 RCV001582417
RCV001809081
RCV002052181
RCV002250074
RCV002471372
RCV002574756
RCV003340919
RCV003458980
RCV000415590
RCV000415519
RCV000415551
RCV000655952
RCV003225957
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs55792681 RCV005921587
Cervical cancer Benign rs55792681 RCV005921588
Cholangiocarcinoma Benign rs55792681 RCV005921593
Clear cell carcinoma of kidney Conflicting classifications of pathogenicity; Benign rs772773265, rs114217936 RCV005934753
RCV005904464
Associations from Text MiningDisease associations identified through Pubtator
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