Gene id |
4122 |
Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
Gene Symbol |
MAN2A2 Gene UCSC Ensembl |
Aliases |
MANA2X |
Gene name |
mannosidase alpha class 2A member 2 |
Alternate names |
alpha-mannosidase 2x, MAN IIx, alpha-mannosidase IIx, mannosidase, alpha type II-X, mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase, manosidase, alpha-, type II, isozyme X, |
Gene location |
15q26.1 (36277055: 36214440) Exons: 14 NC_000009.12
|
OMIM |
600988 |
Protein Summary
|
Protein general information
| P49641
Name: Alpha mannosidase 2x (EC 3.2.1.114) (Alpha mannosidase IIx) (Man IIx) (Mannosidase alpha class 2A member 2) (Mannosyl oligosaccharide 1,3 1,6 alpha mannosidase)
Length: 1150 Mass: 130539
|
Sequence |
MKLKKQVTVCGAAIFCVAVFSLYLMLDRVQHDPTRHQNGGNFPRSQISVLQNRIEQLEQLLEENHEIISHIKDSV LELTANAEGPPAMLPYYTVNGSWVVPPEPRPSFFSISPQDCQFALGGRGQKPELQMLTVSEELPFDNVDGGVWRQ GFDISYDPHDWDAEDLQVFVVPHSHNDPGWIKTFDKYYTEQTQHILNSMVSKLQEDPRRRFLWAEVSFFAKWWDN INVQKRAAVRRLVGNGQLEIATGGWVMPDEANSHYFALIDQLIEGHQWLERNLGATPRSGWAVDPFGYSSTMPYL LRRANLTSMLIQRVHYAIKKHFAATHSLEFMWRQTWDSDSSTDIFCHMMPFYSYDVPHTCGPDPKICCQFDFKRL PGGRINCPWKVPPRAITEANVAERAALLLDQYRKKSQLFRSNVLLVPLGDDFRYDKPQEWDAQFFNYQRLFDFFN SRPNLHVQAQFGTLSDYFDALYKRTGVEPGARPPGFPVLSGDFFSYADREDHYWTGYYTSRPFYKSLDRVLEAHL RGAEVLYSLAAAHARRSGLAGRYPLSDFTLLTEARRTLGLFQHHDAITGTAKEAVVVDYGVRLLRSLVNLKQVII HAAHYLVLGDKETYHFDPEAPFLQVDDTRLSHDALPERTVIQLDSSPRFVVLFNPLEQERFSMVSLLVNSPRVRV LSEEGQPLAVQISAHWSSATEAVPDVYQVSVPVRLPALGLGVLQLQLGLDGHRTLPSSVRIYLHGRQLSVSRHEA FPLRVIDSGTSDFALSNRYMQVWFSGLTGLLKSIRRVDEEHEQQVDMQVLVYGTRTSKDKSGAYLFLPDGEAKPY VPKEPPVLRVTEGPFFSEVVAYYEHIHQAVRLYNLPGVEGLSLDISSLVDIRDYVNKELALHIHTDIDSQGIFFT DLNGFQVQPRRYLKKLPLQANFYPMPVMAYIQDAQKRLTLHTAQALGVSSLKDGQLEVILDRRLMQDDNRGLGQG LKDNKRTCNRFRLLLERRTVGSEVQDSHSTSYPSLLSHLTSMYLNAPALALPVARMQLPGPGLRSFHPLASSLPC DFHLLNLRTLQAEEDTLPSAETALILHRKGFDCGLEAKNLGFNCTTSQGKVALGSLFHGLDVVFLQPTSLTLLYP LASPSNSTDVYLEPMEIATFRLRLG
|
Structural information |
|
Other Databases |
GeneCards: MAN2A2 Malacards: MAN2A2 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0000139 |
Golgi membrane
|
IBA |
cellular component |
GO:0004559 |
alpha-mannosidase activit y
|
IBA |
molecular function |
GO:0006013 |
mannose metabolic process
|
IBA |
biological process |
GO:0006491 |
N-glycan processing
|
IBA |
biological process |
GO:0006517 |
protein deglycosylation
|
IBA |
biological process |
GO:0004559 |
alpha-mannosidase activit y
|
IEA |
molecular function |
GO:0005975 |
carbohydrate metabolic pr ocess
|
IEA |
biological process |
GO:0006013 |
mannose metabolic process
|
IEA |
biological process |
GO:0003824 |
catalytic activity
|
IEA |
molecular function |
GO:0030246 |
carbohydrate binding
|
IEA |
molecular function |
GO:0008152 |
metabolic process
|
IEA |
biological process |
GO:0046872 |
metal ion binding
|
IEA |
molecular function |
GO:0016787 |
hydrolase activity
|
IEA |
molecular function |
GO:0005794 |
Golgi apparatus
|
IEA |
cellular component |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0016021 |
integral component of mem brane
|
IEA |
cellular component |
GO:0016798 |
hydrolase activity, actin g on glycosyl bonds
|
IEA |
molecular function |
GO:0004572 |
mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity
|
IEA |
molecular function |
GO:0000139 |
Golgi membrane
|
TAS |
cellular component |
GO:0016799 |
hydrolase activity, hydro lyzing N-glycosyl compoun ds
|
IEA |
molecular function |
GO:0015923 |
mannosidase activity
|
IEA |
molecular function |
GO:0000139 |
Golgi membrane
|
IEA |
cellular component |
GO:0006486 |
protein glycosylation
|
IEA |
biological process |
|
|
Pathway id | Pathway name |
hsa01100 | Metabolic pathways | hsa00510 | N-Glycan biosynthesis | hsa00513 | Various types of N-glycan biosynthesis | |
|
Associated diseases |
References |
Associated with spermatogenesis and epigenetic regulation | MIK: 21674046 |
Cryptorchidism | MIK: 28606200 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
13 (5 controls, 8 cases)
|
Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
21674046 |
Associated with sper matogenesi s and epig enetic reg ulation
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|