DNAH2 (dynein axonemal heavy chain 2)

2014-11-01  

Identity

HGNC
DNAH2
LOCATION
17p13.1
LOCUSID
146754
ALIAS
DNAHC2,DNHD3,SPGF45
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 146754
MIM: 603333
HGNC: 2948
Ensembl: ENSG00000183914

Variants:

dbSNP: 146754
ClinVar: 146754
TCGA: ENSG00000183914
COSMIC: DNAH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183914ENST00000389173Q9P225
ENSG00000183914ENST00000570791Q9P225
ENSG00000183914ENST00000572933Q9P225
ENSG00000183914ENST00000574518I3L4H9
ENSG00000183914ENST00000575105I3L520

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
337714662021Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella.11
337714662021Novel bi-allelic variants in DNAH2 cause severe asthenoteratozoospermia with multiple morphological abnormalities of the flagella.11
308115832019DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella.37
308115832019DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella.37

Citation

Dessen P

DNAH2 (dynein axonemal heavy chain 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62550/favicon/js/meetings/