KPTN (kaptin, actin binding protein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 11133
Gene name Kaptin, actin binding protein
Gene symbol KPTN
Synonyms (NCBI Gene)
2E4KICS4MRT41
Chromosome 19
Chromosome location 19q13.32
Summary 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.
6
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.
21
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IEA
GO:0005515 Function Protein binding IPI 33961781, 38288086
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IEA
GO:0005765 Component Lysosomal membrane NAS 28199306
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
615620 6404 ENSG00000118162
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
KPTN-related disorder Pathogenic; Likely pathogenic rs374298314, rs587777148 RCV004755772
RCV003415870
Macrocephaly-developmental delay syndrome Likely pathogenic; Pathogenic rs1192367520, rs374298314, rs587777148, rs1243527780, rs2122687472, rs2122670288, rs772378754, rs1967849812, rs2515242437, rs766372684, rs754861924, rs1967952850, rs1295123083 RCV001331685
RCV000087079
RCV000087080
RCV003745344
RCV001929790
RCV002250085
RCV002280261
RCV002285204
RCV003156209
RCV000652012
RCV003324156
RCV003743201
RCV000598564
See cases Likely pathogenic; Pathogenic rs1243527780 RCV002252694
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Thymoma Conflicting classifications of pathogenicity rs772378754 RCV005908882
Show/Hide Text Mining Associations (11)
Associations from Text MiningDisease associations identified through Pubtator
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