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

MAN2C1 - mannosidase alpha class 2C member 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as MANA; CDDG2; MANA1; MAN6A8

Gene ID: 4123 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

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)

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  • 1040 a.a.
Protein Preferred Names Protein Names

alpha-mannosidase 2C1

alpha mannosidase 6A8B

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08012 MAN2C1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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