|
Gene id |
1785 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
DNM2 Gene UCSC Ensembl |
|
Aliases |
CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII, LCCS5 |
|
Gene name |
dynamin 2 |
|
Alternate names |
dynamin-2, dynamin II, |
|
Gene location |
19p13.2 (10718052: 10831909) Exons: 22 NC_000019.10
|
|
Gene summary(Entrez) |
Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have be
|
|
OMIM |
602378 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa04072 | Phospholipase D signaling pathway | | hsa04144 | Endocytosis | | hsa04666 | Fc gamma R-mediated phagocytosis | | hsa04961 | Endocrine and other factor-regulated calcium reabsorption | | hsa04721 | Synaptic vesicle cycle | | hsa05100 | Bacterial invasion of epithelial cells | |
|
| Associated diseases |
References |
| Coronary heart disease | GAD: 21347282 |
| Myopathy | OMIM: 602378 |
| Charcot-Marie-Tooth disease | OMIM: 602378 |
| Gonad development | INFBASE: 15120973 |
| Female infertility | INFBASE: 15120973 |
| Cryptorchidism | MIK: 28606200 |
| May play a role in during acrosome formation and/or acrosomal exocytosis | MIK: 17133603 |
| Teratozoospermia | MIK: 17327269 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 17133603 |
May play a
role in d
uring acro
some forma
tion and/o
r acrosoma
l exocytos
is
|
|
|
|
Male infertility |
|
Show abstract |
| 17327269 |
Teratozoos
permia
|
|
|
13 (5 controls,
8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|