pmm2 phosphomannomutase 2 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: pmm2provided by ZNC
Official Full Name: phosphomannomutase 2provided by ZNC
Primary source: ZFIN:ZDB-GENE-030722-6
See related: Ensembl:ENSDARG00000037654 AllianceGenome:ZFIN:ZDB-GENE-030722-6
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: cb626; it768; unm_it768; zgc:56149
Summary: Predicted to enable phosphomannomutase activity. Acts upstream of or within several processes, including protein N-linked glycosylation; protein processing; and skeletal system development. Predicted to be located in cytoplasm. Predicted to be active in cytosol. Is expressed in several structures, including axis; digestive system; hatching gland; periderm; and polster. Used to study congenital disorder of glycosylation type I. Human ortholog(s) of this gene implicated in congenital disorder of glycosylation and congenital disorder of glycosylation Ia. Orthologous to human PMM2 (phosphomannomutase 2). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	1	NC_007112.7 (9860381..9866608)
105	previous assembly	GRCz10 (GCF_000002035.5)	1	NC_007112.6 (9176270..9182497)

Chromosome 1 - NC_007112.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The up-regulation of gstp1 by the pmm2 inactivation was diminished by knocking down or out double-stranded RNA-activated protein kinase (PKR)-like ER kinase.
Title: Nrf2 activation attenuates genetic endoplasmic reticulum stress induced by a mutation in the phosphomannomutase 2 gene in zebrafish.
Morphant embryos had developmental abnormalities consistent with Congenital disorder of glycosylation resulting from mutations in pmm2, including craniofacial defects and impaired motility associated with altered motor neurogenesis.
Title: A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency.

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphomannomutase activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphomannomutase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within GDP-mannose biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in GDP-mannose biosynthetic process	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chondrocyte morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within chondrocyte morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic cranial skeleton morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mannose metabolic process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein N-linked glycosylation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within protein N-linked glycosylation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein processing	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: phosphomannomutase 2

Names: un-named it768

NP_956378.1

EC 5.4.2.8

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_200084.1 → NP_956378.1 phosphomannomutase 2

See identical proteins and their annotated locations for NP_956378.1

Status: PROVISIONAL

Source sequence(s)

BC051778

UniProtKB/TrEMBL

B2GRF7, Q7ZTZ3

Related

ENSDARP00000054847.4, ENSDART00000054848.5

Conserved Domains (2) summary

PTZ00174
Location:10 → 249

PTZ00174; phosphomannomutase; Provisional

TIGR01484
Location:13 → 232

HAD-SF-IIB; HAD-superfamily hydrolase, subfamily IIB