DNAH12 (dynein axonemal heavy chain 12)

2007-07-01  

Identity

HGNC
DNAH12
LOCATION
3p14.3
LOCUSID
201625
ALIAS
DHC3,DLP12,DLP3,DNAH12L,DNAH7L,DNAHC12,DNAHC3,DNHD2,HDHC3,HL-19,HL19
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 201625
MIM: 603340
HGNC: 2943
Ensembl: ENSG00000174844

Variants:

dbSNP: 201625
ClinVar: 201625
TCGA: ENSG00000174844
COSMIC: DNAH12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174844ENST00000311202Q6ZR08
ENSG00000174844ENST00000351747Q6ZR08
ENSG00000174844ENST00000389536J3QTM1
ENSG00000174844ENST00000466540H7C5N3
ENSG00000174844ENST00000494758H7C5S4
ENSG00000174844ENST00000495027E9PG32

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
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
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016

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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208860652010Molecular reclassification of Crohn's disease by cluster analysis of genetic variants.12
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208860652010Molecular reclassification of Crohn's disease by cluster analysis of genetic variants.12
191747802009Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort.62
194229352009Genetic risk profiling and prediction of disease course in Crohn's disease patients.45
191747802009Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort.62
194229352009Genetic risk profiling and prediction of disease course in Crohn's disease patients.45
171730372007Dynein is required for receptor sorting and the morphogenesis of early endosomes.91
172831812007Activation of endosomal dynein motors by stepwise assembly of Rab7-RILP-p150Glued, ORP1L, and the receptor betalll spectrin.226
171730372007Dynein is required for receptor sorting and the morphogenesis of early endosomes.91
172831812007Activation of endosomal dynein motors by stepwise assembly of Rab7-RILP-p150Glued, ORP1L, and the receptor betalll spectrin.226

Citation

Dessen P

DNAH12 (dynein axonemal heavy chain 12)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47633/dnah12