KPTN (kaptin, actin binding protein)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
11133
Gene name Gene Name - the full gene name approved by the HGNC.
Kaptin, actin binding protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KPTN
Synonyms (NCBI Gene) Gene synonyms aliases
2E4, KICS4, MRT41
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MRT41
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.32
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a filamentous-actin-associated protein, which is involved in actin dynamics and plays an important role in neuromorphogenesis. This protein is part of the KICSTOR protein complex that localizes to lysosomes. Mutations in this gene result
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs374298314 G>A,T Pathogenic Stop gained, genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs587777148 ->GACCACATCTGCAGAACC Pathogenic Genic downstream transcript variant, coding sequence variant, non coding transcript variant, inframe insertion
rs761616995 G>A Likely-pathogenic Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs766372684 ->TA Pathogenic Frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, intron variant, splice donor variant
rs774473819 C>T Likely-pathogenic Intron variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(21)
miRTarBase ID miRNA Experiments Reference
MIRT049806 hsa-miR-92a-3p CLASH 23622248
MIRT1100499 hsa-miR-3135b CLIP-seq
MIRT1100500 hsa-miR-3150a-3p CLIP-seq
MIRT1100501 hsa-miR-3175 CLIP-seq
MIRT1100502 hsa-miR-3620 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
GO ID Ontology Definition Evidence Reference
GO:0005765 Component Lysosomal membrane IEA
GO:0007015 Process Actin filament organization IEA
GO:0030027 Component Lamellipodium IBA 21873635
GO:0030027 Component Lamellipodium IDA 10099934, 24239382
GO:0031941 Component Filamentous actin IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615620 6404 ENSG00000118162
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y664
Protein name KICSTOR complex protein kaptin (Actin-associated protein 2E4)
Protein function As part of the KICSTOR complex functions in the amino acid-sensing branch of the TORC1 signaling pathway. Recruits, in an amino acid-independent manner, the GATOR1 complex to the lysosomal membranes and allows its interaction with GATOR2 and the
Family and domains
Sequence 
MMGEAAVAAGPCPLREDSFTRFSSQSNVYGLAGGAGGRGELLAATLKGKVLGFRYQDLRQ
KIRPVAKELQFNYIPVDAEIVSIDTFNKSPPKRGLVVGITFIKDSGDKGSPFLNIYCDYE
PGSEYNLDSIAQSCLNLELQFTPFQLCHAEVQVGDQLETVFLLSGNDPAIHLYKENEGLH
QFEEQPVENLFPELTNLTSSVLWLDVHNFPGTSRRLSALGCQSGYVRVAHVDQRSREVLQ
MWSVLQDGPISRVIVFSLSAAKETKDRPLQDEYSVLVASMLEPAVVYRDLLNRGLEDQLL
LPGSDQFDSVLCSLVTDVDLDGRPEVLVATYGQELLCYKYRGPESGLPEAQHGFHLLWQR
SFSSPLLAMAHVDLTGDGLQELAVVSLKGVHILQHSLIQASELVLTRLRHQVEQRRRRLQ
GLEDGAGAGPAENAAS
Sequence length 436
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Amino acids regulate mTORC1
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557
Macrocephaly-developmental delay syndrome Macrocephaly-developmental delay syndrome rs374298314, rs587777148, rs766372684, rs1295123083, rs1184981709
Mental retardation Intellectual Disability, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41 rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)		 24239382
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Macrocephaly-Developmental Delay Syndrome macrocephaly-developmental delay syndrome GenCC
Show/Hide Text Mining Associations (11)
Associations from Text Mining
Disease Name Relationship Type References
Hearing Loss Associate 37311648
Hypersensitivity Delayed Associate 24239382, 32358097
Immunoglobulin G4 Related Disease Inhibit 32358097
Immunoglobulin G4 Related Disease Associate 32358097
Immunologic Deficiency Syndromes Inhibit 32358097
Immunologic Deficiency Syndromes Associate 32358097
Intellectual Disability Associate 37311648
Language Disorders Associate 37311648
Megalencephaly Associate 24239382, 32358097
Movement Disorders Associate 37311648