TBC1D24 (TBC1 domain family member 24)

2016-10-01  

Identity

HGNC
TBC1D24
LOCATION
16p13.3
LOCUSID
57465
ALIAS
DEE16,DFNA65,DFNB86,DOORS,EIEE16,EPRPDC,FIME,TLDC6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57465
MIM: 613577
HGNC: 29203
Ensembl: ENSG00000162065

Variants:

dbSNP: 57465
ClinVar: 57465
TCGA: ENSG00000162065
COSMIC: TBC1D24

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162065ENST00000562105H3BV07
ENSG00000162065ENST00000564879H3BTP5
ENSG00000162065ENST00000567020Q9ULP9
ENSG00000162065ENST00000569874Q9ULP9
ENSG00000162065ENST00000627285Q9ULP9
ENSG00000162065ENST00000630263A0A0D9SFR5
ENSG00000162065ENST00000643767A0A2R8Y518
ENSG00000162065ENST00000646147Q9ULP9

Expression (GTEx)

0
5
10
15
20
25
30
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
TBC/RABGAPsREACTOMER-HSA-8854214

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
384137612024Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.0
384137612024Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss.0
354136382022TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up.3
354136382022TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up.3
330638682021Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases.1
339863652021TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.4
330638682021Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases.1
339863652021TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.4
324756392020TBC1D24 regulates recycling of clathrin-independent cargo proteins mediated by tubular recycling endosomes.3
326636482020Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy.3
329878322020Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.8
324756392020TBC1D24 regulates recycling of clathrin-independent cargo proteins mediated by tubular recycling endosomes.3
326636482020Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy.3
329878322020Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.8
302455102019A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay.9

Citation

Dessen P

TBC1D24 (TBC1 domain family member 24)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55985