DNMBP (dynamin binding protein)

2006-10-01  

Identity

HGNC
DNMBP
LOCATION
10q24.2
LOCUSID
23268
ALIAS
ARHGEF36,CTRCT48,TUBA
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23268
MIM: 611282
HGNC: 30373
Ensembl: ENSG00000107554

Variants:

dbSNP: 23268
ClinVar: 23268
TCGA: ENSG00000107554
COSMIC: DNMBP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107554ENST00000324109Q6XZF7
ENSG00000107554ENST00000543621A0A1C7CYY6
ENSG00000107554ENST00000636706A0A1B0GTX1

Expression (GTEx)

0
5
10
15
20
25
30
35
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

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
170156202006Cdc42 GEF Tuba regulates the junctional configuration of simple epithelial cells.88
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
145062342003Tuba, a novel protein containing bin/amphiphysin/Rvs and Dbl homology domains, links dynamin to regulation of the actin cytoskeleton.66
254223752014Discoidin domain receptor 1 controls linear invadosome formation via a Cdc42-Tuba pathway.31
167405962006Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease.25
167405962006Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease.25
216775112011Tuba and N-WASP function cooperatively to position the central lumen during epithelial cyst morphogenesis.15
302901522018Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts.9
183595372009DNMBP is genetically associated with Alzheimer dementia in the Belgian population.5
183595372009DNMBP is genetically associated with Alzheimer dementia in the Belgian population.5

Citation

Dessen P

DNMBP (dynamin binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43231/dnmbp-(dynamin-binding-protein)