TBCK Chromosome 4
TBC1 domain containing kinase
Upload your DNA to see your personal genotypes for variants in TBCK.
What This Gene Does
This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
Gene Info
Gene Group
FERRY complex subunits
Locus Type
gene with protein product
Location
4q24
Ensembl
ENSG00000145348
Associated Conditions (14)
Hypotonia
infantile
with psychomotor retardation and characteristic facies 3
Inborn genetic diseases
TBCK-related disorder
Neurodevelopmental disorder
6 conditions
Abnormality of the nervous system
Colon adenocarcinoma
Syndromic Infantile Encephalopathy
Intellectual disability
Global developmental delay
with psychomotor retardation and characteristic facies 1
Ovarian serous cystadenocarcinoma
Key Variants
RS1213724402
Conflicting classifications of pathogenicity
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Health Risk
RS149002761
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hypotonia, infantile
Health Risk
RS1579198426
Conflicting classifications of pathogenicity
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Health Risk
RS1579198447
Conflicting classifications of pathogenicity
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Health Risk
RS1740799305
Conflicting classifications of pathogenicity
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Health Risk
RS2150065916
Conflicting classifications of pathogenicity
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Health Risk
RS2478444503
Conflicting classifications of pathogenicity
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Health Risk
RS34840340
Conflicting classifications of pathogenicity
Inborn genetic diseases, TBCK-related disorder, Inborn genetic diseases
Health Risk
RS369077117
Conflicting classifications of pathogenicity
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Health Risk
RS370050799
Conflicting classifications of pathogenicity
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Health Risk
RS374168890
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS61733982
Conflicting classifications of pathogenicity
TBCK-related disorder, TBCK-related disorder
Health Risk
All Variants (89)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2149737591 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS2149891925 | Health Risk | Pathogenic | — |
| RS2149997387 | Health Risk | Pathogenic | — |
| RS2150005919 | Health Risk | Pathogenic | — |
| RS2150010260 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS2150010421 | Health Risk | Pathogenic | — |
| RS2150050474 | Health Risk | Pathogenic | — |
| RS2477000006 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS2477893988 | Health Risk | Pathogenic | — |
| RS2478407542 | Health Risk | Pathogenic | — |
| RS374319146 | Health Risk | Pathogenic | 6 conditions, Hypotonia, infantile |
| RS376699648 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS575822089 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS577030895 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |
| RS762552974 | Health Risk | Pathogenic | Global developmental delay, Hypotonia, infantile |
| RS771481304 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS869320769 | Health Risk | Pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS1057518332 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS1176128034 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS1183077355 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS1324981567 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS1330115613 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1452578209 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS1560911619 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS1761469644 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS1762560983 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS2149518765 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS2150053706 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS2479212710 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS62321379 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS746860249 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS749437743 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS759892467 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS763057505 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the nervous system, Hypotonia, infantile |
| RS765407874 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS774755464 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS775034792 | Health Risk | Pathogenic/Likely pathogenic | TBCK-related disorder, Hypotonia, infantile |
| RS780527809 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |
| RS903296221 | Health Risk | Pathogenic/Likely pathogenic | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 |