MAN2B2 mannosidase alpha class 2B member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAN2B2provided by HGNC
Official Full Name: mannosidase alpha class 2B member 2provided by HGNC
Primary source: HGNC:HGNC:29623
See related: Ensembl:ENSG00000013288 MIM:618899; AllianceGenome:HGNC:29623
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: EpMAN
Summary: Predicted to enable alpha-mannosidase activity. Predicted to be involved in mannose metabolic process and oligosaccharide catabolic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in thyroid (RPKM 17.8), ovary (RPKM 16.8) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p16.1

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (6575189..6623362)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (6551558..6599721)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (6576916..6625089)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Expressed MAN2B1 and MAN2B2 in Drosophila S2 cells and functionally characterized them. MAN2B1 and MAN2B2 were significantly inhibited by the class II alpha-mannosidase inhibitors, swainsonine and mannostatin A.
Title: Human lysosomal alpha-mannosidases exhibit different inhibition and metal binding properties.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of mannosidase, alpha, class 2B, member 2 (MAN2B2) by shRNA library screening inhibits HIV-1 replication in cultured Jurkat T-cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Specific alterations of the N-linked carbohydrates on HIV-1 gp120 and gp41 by glucosidases and mannosidase inhibitors can enhance mannose-binding lectin (MBL)-mediated neutralization of virus by strengthening the interaction of HIV-1 with MBL	PubMed
	env	HIV-1 gp120 N-linked oligosaccharides are processed by manosidase I and II in the Golgi complex	PubMed
Envelope surface glycoprotein gp160, precursor	env	Oligosaccharide side-chains of HIV-1 gp160 are processed by glycosidase I and II, mannosidase I and II, acetylglucosaminyl transferase I and II, and fucosyl, galactosyl and sialyl transferases in both the endoplasmic reticulum and golgi apparatus	PubMed
Envelope transmembrane glycoprotein gp41	env	Mannose-containing, N-linked oligosaccharide side-chains of HIV-1 gp41 are involved in the initial stage of infection by HIV-1; glycosylation inhibitors block virus-cell and cell-cell fusion and release of the virions	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-20841 (e-PCR)
- UniSTS:68871

SHGC-24717 (e-PCR)
- UniSTS:38173

RH64841 (e-PCR)
- UniSTS:86561

SHGC-59768 (e-PCR)
- UniSTS:14417

D1S1423 (e-PCR)
- UniSTS:149619

RH40651 (e-PCR)
- UniSTS:88972

G33597 (e-PCR)
- UniSTS:81295

G20529 (e-PCR)
- UniSTS:36041

A005V09 (e-PCR)
- UniSTS:36042

SHGC-59610 (e-PCR)
- UniSTS:3298

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables alpha-mannosidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables carbohydrate binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in mannose metabolic process	IEA Inferred from Electronic Annotation more info
involved_in oligosaccharide catabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in lysosomal lumen	TAS Traceable Author Statement more info
is_active_in lysosome	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: epididymis-specific alpha-mannosidase

Names: alpha-1,6-mannosidase; core-specific lysosomal alpha-1,6-Mannosidase; epididymis secretory sperm binding protein

NP_001278967.1

EC 3.2.1.24

NP_056089.1

EC 3.2.1.24

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001292038.2 → NP_001278967.1 epididymis-specific alpha-mannosidase isoform 2 precursor

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses alternate in-frame splice sites in the 5' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.

Source sequence(s)

AC093323

Consensus CDS

CCDS77898.1

UniProtKB/TrEMBL

B7Z754, E9PCD7

Related

ENSP00000423129.1, ENST00000504248.5

Conserved Domains (3) summary

smart00872
Location:307 → 388

Alpha-mann_mid; Alpha mannosidase, middle domain

pfam07748
Location:530 → 951

Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain

cl15692
Location:27 → 301

CE4_SF; Catalytic NodB homology domain of the carbohydrate esterase 4 superfamily
NM_015274.3 → NP_056089.1 epididymis-specific alpha-mannosidase isoform 1 precursor

See identical proteins and their annotated locations for NP_056089.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC093323

Consensus CDS

CCDS33951.1

UniProtKB/Swiss-Prot

Q66MP2, Q86T67, Q9Y2E5

UniProtKB/TrEMBL

A0A384NYH9

Related

ENSP00000285599.3, ENST00000285599.8

Conserved Domains (3) summary

cd10811
Location:27 → 352

GH38N_AMII_Epman_like; N-terminal catalytic domain of mammalian core-specific lysosomal alpha 1,6-mannosidase and similar proteins; glycoside hydrolase family 38 (GH38)

smart00872
Location:358 → 439

Alpha-mann_mid; Alpha mannosidase, middle domain

pfam07748
Location:581 → 1002

Glyco_hydro_38C; Glycosyl hydrolases family 38 C-terminal domain