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MAN2C1 - mannosidase alpha class 2C member 1 Gene

Also Known as MANA; CDDG2; MANA1; MAN6A8

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4123

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

Alpha-mann_mid

Glyco_hydro_38C

0
200
400
600
800
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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-D3187	HMRef-αMan	Substrate	/	Unkown
HY-RS08012	MAN2C1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	MAN2C1	NCBI