KPTN Chromosome 19
Kaptin, actin binding protein
Upload your DNA to see your personal genotypes for variants in KPTN.
What This Gene Does
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 in an autosomal recessive form of intellectual disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2017]
Gene Info
Gene Group
KICSTOR complex
Locus Type
gene with protein product
Location
19q13.32
Ensembl
ENSG00000118162
Associated Conditions (5)
Macrocephaly-developmental delay syndrome
Inborn genetic diseases
KPTN-related disorder
Thymoma
See cases
Key Variants
RS142867197
Conflicting classifications of pathogenicity
Macrocephaly-developmental delay syndrome, Inborn genetic diseases, KPTN-related disorder
Health Risk
RS199648809
Conflicting classifications of pathogenicity
Macrocephaly-developmental delay syndrome, Inborn genetic diseases, Macrocephaly-developmental delay syndrome
Health Risk
RS200513352
Conflicting classifications of pathogenicity
Macrocephaly-developmental delay syndrome, Inborn genetic diseases, Macrocephaly-developmental delay syndrome
Health Risk
RS372955218
Conflicting classifications of pathogenicity
Macrocephaly-developmental delay syndrome, Inborn genetic diseases, Macrocephaly-developmental delay syndrome
Health Risk
RS373139784
Conflicting classifications of pathogenicity
Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome
Health Risk
RS761616995
Conflicting classifications of pathogenicity
Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome
Health Risk
RS774473819
Conflicting classifications of pathogenicity
Health Risk
RS781132082
Conflicting classifications of pathogenicity
Macrocephaly-developmental delay syndrome, Inborn genetic diseases, Macrocephaly-developmental delay syndrome
Health Risk
RS1192367520
Likely pathogenic
Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome
Health Risk
RS2122687547
Likely pathogenic
Health Risk
RS772378754
Likely pathogenic
Macrocephaly-developmental delay syndrome, Inborn genetic diseases, Thymoma
Health Risk
RS1295123083
Pathogenic
Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome
Health Risk
All Variants (23)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142867197 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly-developmental delay syndrome, Inborn genetic diseases, KPTN-related disorder |
| RS199648809 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly-developmental delay syndrome, Inborn genetic diseases, Macrocephaly-developmental delay syndrome |
| RS200513352 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly-developmental delay syndrome, Inborn genetic diseases, Macrocephaly-developmental delay syndrome |
| RS372955218 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly-developmental delay syndrome, Inborn genetic diseases, Macrocephaly-developmental delay syndrome |
| RS373139784 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome |
| RS761616995 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome |
| RS774473819 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781132082 | Health Risk | Conflicting classifications of pathogenicity | Macrocephaly-developmental delay syndrome, Inborn genetic diseases, Macrocephaly-developmental delay syndrome |
| RS1192367520 | Health Risk | Likely pathogenic | Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome |
| RS2122687547 | Health Risk | Likely pathogenic | — |
| RS772378754 | Health Risk | Likely pathogenic | Macrocephaly-developmental delay syndrome, Inborn genetic diseases, Thymoma |
| RS1295123083 | Health Risk | Pathogenic | Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome |
| RS1332315502 | Health Risk | Pathogenic | — |
| RS1967849812 | Health Risk | Pathogenic | Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome |
| RS1967952850 | Health Risk | Pathogenic | Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome |
| RS2122670288 | Health Risk | Pathogenic | Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome |
| RS2122687472 | Health Risk | Pathogenic | Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome |
| RS2515242437 | Health Risk | Pathogenic | Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome |
| RS374298314 | Health Risk | Pathogenic | Macrocephaly-developmental delay syndrome, Inborn genetic diseases, KPTN-related disorder |
| RS754861924 | Health Risk | Pathogenic | Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome |
| RS1243527780 | Health Risk | Pathogenic/Likely pathogenic | See cases, Macrocephaly-developmental delay syndrome, See cases |
| RS587777148 | Health Risk | Pathogenic/Likely pathogenic | Macrocephaly-developmental delay syndrome, KPTN-related disorder, Inborn genetic diseases |
| RS766372684 | Health Risk | Pathogenic/Likely pathogenic | Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome |