Gmppb MGI Mouse Gene Detail - MGI:2660880 - GDP-mannose pyrophosphorylase B

Symbol

Gmppb
Name

GDP-mannose pyrophosphorylase B

Feature Type

protein coding gene
IDs

MGI:2660880
NCBI Gene: 331026
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr9:107926490-107929119 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 9, 59.07 cM
Mapping Data

2 experiments

SNPs within 2kb

84 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2660880	protein coding gene	Chr9:107926441-107930000 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035282	protein coding gene	Chr9:109975439-109978991 (+)
A/J	MGP_AJ_G0035261	protein coding gene	Chr9:105955034-105958593 (+)
AKR/J	MGP_AKRJ_G0035193	protein coding gene	Chr9:108597696-108601249 (+)
BALB/cJ	MGP_BALBcJ_G0035255	protein coding gene	Chr9:105650725-105654284 (+)
C3H/HeJ	MGP_C3HHeJ_G0034965	protein coding gene	Chr9:108996336-108999895 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0035775	protein coding gene	Chr9:112949072-112952631 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0032673	protein coding gene	Chr9:103388891-103392456 (+)
CAST/EiJ	MGP_CASTEiJ_G0034276	protein coding gene	Chr9:108955141-108958702 (+)
CBA/J	MGP_CBAJ_G0034933	protein coding gene	Chr9:116945499-116949066 (+)
DBA/2J	MGP_DBA2J_G0035094	protein coding gene	Chr9:105409454-105413007 (+)
FVB/NJ	MGP_FVBNJ_G0035042	protein coding gene	Chr9:104177845-104181404 (+)
LP/J	MGP_LPJ_G0035170	protein coding gene	Chr9:110166170-110168810 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035081	protein coding gene	Chr9:118533787-118537346 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0035796	protein coding gene	Chr9:108876988-108880541 (+)
PWK/PhJ	MGP_PWKPhJ_G0033983	protein coding gene	Chr9:105731276-105734843 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0033818	protein coding gene	Chr9:108938364-108941931 (+)
WSB/EiJ	MGP_WSBEiJ_G0034397	protein coding gene	Chr9:108755409-108758962 (+)

Human Ortholog

GMPPB, GDP-mannose pyrophosphorylase B

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

GMPPB, GDP-mannose pyrophosphorylase B
Synonyms

LGMDR19, MDDGA14, MDDGB14, MDDGC14
Links

HGNC:22932

NCBI Gene ID: 29925

neXtProt AC: NX_Q9Y5P6

UniProt: Q9Y5P6
Chr Location

3p21.31; chr3:49716844-49723973 (-) GRCh38

MGI Vertebrate Homology

Gmppb stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: GMPPB
Gene Tree

Gmppb

Diseases

4 with human GMPPB associations

				Human Disease	Mouse Models
				autosomal recessive limb-girdle muscular dystrophy type 2T IDs autosomal recessive limb-girdle muscular dystrophy type 2T DOID:0110294 ICD10CM:G71.0 OMIM:615352 ORDO:363623
				congenital muscular dystrophy-dystroglycanopathy A14 IDs congenital muscular dystrophy-dystroglycanopathy A14 DOID:0111233 OMIM:615350
				muscular dystrophy-dystroglycanopathy IDs muscular dystrophy-dystroglycanopathy DOID:0112374 ICD10CM:G71.2 ORDO:370953
				muscular dystrophy-dystroglycanopathy type B14 IDs muscular dystrophy-dystroglycanopathy type B14 DOID:0112377 OMIM:615351

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
4 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

4
Endonuclease-mediated

3
Gene trapped

1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

16 strains or lines available

Mice homozygous for a null mutation die between implantation and placentation.

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All GO Annotations

17
GO References

9

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

816
Tissues

108
cDNA Data

9
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase gmppb

ZFIN gmppb

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All Sequences

47
RefSeq

7
UniProt

1
CCDS

CCDS23515.1

Ensembl

ENSMUSG00000070284 (Evidence)
NCBI Gene

331026

			Length	Strain/Species	Flank
genomic	331026	NCBI Gene Model \| MGI Sequence Detail	2630	C57BL/6J	± kb
transcript	NM_177910	RefSeq \| MGI Sequence Detail	1772	C57BL/6
polypeptide	Q8BTZ7	UniProt \| EBI \| MGI Sequence Detail	360	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000008076 mannose-1-phosphate guanyltransferase beta

(term hierarchy)
EC

2.7.7.13
InterPro Domains

IPR001451 Hexapeptide repeat

IPR018357 Hexapeptide transferase, conserved site

IPR050486 Mannose-1-phosphate guanyltransferase

IPR045233 Mannose-1-phosphate guanyltransferase, N-terminal domain

IPR029044 Nucleotide-diphospho-sugar transferases

IPR005835 Nucleotidyl transferase domain

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All nucleic 10

cDNA 9

Other 1

Microarray probesets 4

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MGI:2143016

Summaries

All 32

Developmental Gene Expression 3

Gene Ontology 9

Phenotypes 4
Earliest

J:122989 Visel A, et al., GenePaint.org: an atlas of gene expression patterns in the mouse embryo. Nucleic Acids Res. 2004 Jan 1;32(Database issue):D552-6
Latest

J:345599 Schurig MK, et al., Consequences of GMPPB deficiency for neuromuscular development and maintenance. Front Mol Neurosci. 2024;17:1356326

TSS for Gmppb:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr87059	Chr9:107926453-107926538 (+)	6 bp
Tssr87060	Chr9:107927058-107927093 (+)	586 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24