2. Gene
  3. MAN2C1 - mannosidase alpha class 2C member 1 Gene

MAN2C1 - mannosidase alpha class 2C member 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：甘露糖苷酶 α 类 2C 成员 1

种属: Homo sapiens

同用名: MANA; CDDG2; MANA1; MAN6A8

基因 ID: 4123 | 基因类型: protein coding

关于 MAN2C1

Cytogenetic location: 15q24.2 Genomic coordinates (GRCh38): 15:75,355,792-75,368,607 (from NCBI)

This gene has 44 transcripts (splice variants), 205 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 23.4), ovary (RPKM 23.0) and 25 other tissues.

功能概要

预计可启用 α-甘露糖苷酶活性。预测参与寡糖分解代谢过程。位于核质中。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable alpha-mannosidase activity. Predicted to be involved in oligosaccharide catabolic process. Located in nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]

MAN2C1 基因产物(4)

mRNA Protein Name
NM_001256494.2 NP_001243423.1 alpha-mannosidase 2C1 isoform 2
NM_001256495.2 NP_001243424.1 alpha-mannosidase 2C1 isoform 3
NM_001256496.2 NP_001243425.1 alpha-mannosidase 2C1 isoform 4
NM_006715.4 NP_006706.2 alpha-mannosidase 2C1 isoform 1

MAN2C1 蛋白结构

Glyco_hydro_38

Glyco_hydro_38: Glycosyl hydrolases family 38 N-terminal domain (252 - 510)

Alpha-mann_mid

Alpha-mann_mid: Alpha mannosidase middle domain (517 - 593)

Glyco_hydro_38C

Glyco_hydro_38C: Glycosyl hydrolases family 38 C-terminal domain (624 - 1031)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1040 a.a.
蛋白主名 其他名称

alpha-mannosidase 2C1

alpha mannosidase 6A8B

关联疾病

疾病名称 别名
Congenital Disorder Of Deglycosylation 2

CDDG2
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder
Intracystic Papillary Adenoma

Intracystic Papilloma
Chromosome 15q24 Deletion Syndrome

15q24 Microdeletion Syndrome

Del(15)(Q24)

Monosomy 15q24

15q24 Microdeletion

15q24 Deletion

Interstitial Deletion Of Chromosome 15q24
Mannosidosis, Alpha B, Lysosomal

Alpha-Mannosidosis

Lysosomal Alpha-D-Mannosidase Deficiency

Deficiency Of Alpha-Mannosidase

Alpha-Mannosidase B Deficiency

Mannosidosis

MANSA

Mannosidosis, Alpha-, Types I And Ii

Alpha-D-Mannosidosis

Alpha-Mannosidase Deficiency

Α-Mannosidosis

Alpha Mannosidase B Deficiency

Mannosidosis, Alpha B Lysosomal

Lysosomal Alpha B Mannosidosis

Alpha-Mannosidosis, Infantile Form

Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form

Alpha-Mannosidosis, Adult Form

Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form

Alpha-Mannosidosis Types I And Ii

Mannosidase Deficiency Diseases
Spondylometaphyseal Dysplasia, Kozlowski Type

Spondylometaphyseal Dysplasia Kozlowski Type

Jequier Kozlowski Skeletal Dysplasia

Smd Kozlowski Type

SMDK

Dysmorphism Arthrogryposis Skeletal Maturation Advanced

Jequier-Kozlowski Syndrome

Skeletal Dysplasia Jequier-Kozlowski Type

Smd, Kozlowski Type
Ngly1-Deficiency

Deficiency Of N-Glycanase 1

Ngly1-Cddg

Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome

Ngly1 Deficiency

Congenital Disorder Of Deglycosylation

Congenital Disorder Of Glycosylation Type Iv

Congenital Disorder Of Deglycosylation

Cddg

Congenital Disorder Of Glycosylation Type Iv

Cdg1v
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08012 MAN2C1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris MAN2C1 VGNC VGNC:42947
Felis catus MAN2C1 VGNC VGNC:68146
Mus musculus MAN2C1 MGD MGI:1920994
Macaca mulatta MAN2C1 VGNC VGNC:74485
Rattus norvegicus MAN2C1 RGD RGD:628787
Bos taurus MAN2C1 VGNC VGNC:31166
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