TUBA3D (tubulin alpha 3d)

2014-11-01  

Identity

HGNC
TUBA3D
LOCATION
2q21.1
LOCUSID
113457
ALIAS
H2-ALPHA,KTCN9,TUBA2

Other Information

Locus ID:

NCBI: 113457
MIM: 617878
HGNC: 24071
Ensembl: ENSG00000075886

Variants:

dbSNP: 113457
ClinVar: 113457
TCGA: ENSG00000075886
COSMIC: TUBA3D

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000075886ENST00000321253P0DPH8
ENSG00000075886ENST00000321253Q1ZYQ1

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500
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
ApoptosisKEGGko04210
Tight junctionKEGGko04530
Gap junctionKEGGko04540
Pathogenic Escherichia coli infectionKEGGko05130
ApoptosisKEGGhsa04210
Tight junctionKEGGhsa04530
Gap junctionKEGGhsa04540
Pathogenic Escherichia coli infectionKEGGhsa05130
PhagosomeKEGGko04145
PhagosomeKEGGhsa04145
Metabolism of proteinsREACTOMER-HSA-392499
Protein foldingREACTOMER-HSA-391251
Chaperonin-mediated protein foldingREACTOMER-HSA-390466
Cooperation of Prefoldin and TriC/CCT in actin and tubulin foldingREACTOMER-HSA-389958
Prefoldin mediated transfer of substrate to CCT/TriCREACTOMER-HSA-389957
Formation of tubulin folding intermediates by CCT/TriCREACTOMER-HSA-389960
Post-chaperonin tubulin folding pathwayREACTOMER-HSA-389977

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
290515772017De novo mutations of TUBA3D are associated with keratoconus.2

Citation

Dessen P

TUBA3D (tubulin alpha 3d)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75359/tuba3d