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Gmppb Gene Detail
Summary
  • Symbol
    Gmppb
  • Name
    GDP-mannose pyrophosphorylase B
  • Feature Type
    protein coding gene
  • IDs
    MGI:2660880
    NCBI Gene: 331026
  • Alliance
    genome feature page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • 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
Strain
Comparison
more
  • SNPs within 2kb
    84 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2660880
 protein coding gene Chr9:107926441-107930000 (+)
129S1/SvImJ ENSMUSG00200043131
 protein coding gene Chr9:105124510-105128062 (+)
A/J ENSMUSG00195041562
 protein coding gene Chr9:104343070-104346629 (+)
AKR/J ENSMUSG00220023296
 protein coding gene Chr9:104730164-104733717 (+)
BALB/cJ ENSMUSG00180031013
 protein coding gene Chr9:104659583-104663142 (+)
C3H/HeJ ENSMUSG00175036235
 protein coding gene Chr9:105001865-105005424 (+)
C57BL/6NJ ENSMUSG00215025106
 protein coding gene Chr9:104979062-104982621 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032673
 protein coding gene Chr9:103388891-103392456 (+)
CAST/EiJ ENSTCUG00005029439
 protein coding gene Chr9:104752970-104756531 (+)
CBA/J ENSMUSG00210037267
 protein coding gene Chr9:104851514-104855081 (+)
DBA/2J ENSMUSG00185034401
 protein coding gene Chr9:105010957-105014510 (+)
FVB/NJ ENSMUSG00205030620
 protein coding gene Chr9:105012618-105016177 (+)
JF1/MsJ ENSUMUG00000048007
 protein coding gene Chr9:104840755-104844322 (+)
LP/J ENSMUSG00230046176
 protein coding gene Chr9:105153399-105156951 (+)
NOD/ShiLtJ ENSMUSG00190026594
 protein coding gene Chr9:104649747-104653306 (+)
NZO/HlLtJ ENSMUSG00225022899
 protein coding gene Chr9:105384242-105387795 (+)
PWK/PhJ ENSLUMG00010034368
 protein coding gene Chr9:104797929-104801496 (+)
SPRET/EiJ ENSMSPG00010042063
 protein coding gene Chr9:106625849-106629416 (+)
WSB/EiJ ENSIUOG00005034967
 protein coding gene Chr9:104096418-104099971 (+)



Homology
more
  • 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
    NCBI Gene ID: 29925
    UniProt: Q9Y5P6

  • Chr Location
    3p21.31; chr3:49716844-49723985 (-)  GRCh38
Human Diseases
more
  • Diseases
    4 with human GMPPB associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    1 phenotype from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    6 phenotype references
Phenotype Overview

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.
Mice homozygous for a null mutation die between implantation and placentation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    31
  • GO References
    13
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.
Expression
less
Expression Overview

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
    707
  • Tissues
    108
  • cDNA Data
    9
  • Literature Summary
    3
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
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  
For the selected sequence
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000008076 mannose-1-phosphate guanylyltransferase catalytic subunit beta
    (term hierarchy)
  • EC
    2.7.7.13
  • InterPro Domains
    IPR018357 Hexapeptide transferase, conserved site
    IPR050486 Mannose-1-phosphate guanyltransferase
    IPR056729 Mannose-1-phosphate guanyltransferase, C-terminal domain
    IPR045233 Mannose-1-phosphate guanyltransferase, N-terminal domain
    IPR029044 Nucleotide-diphospho-sugar transferases
    IPR005835 Nucleotidyl transferase domain
Molecular
Reagents
less
  • All nucleic 10
    cDNA 9
    Other 1
    Antibodies 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:2143016
References
more
  • Summaries
    All 41
    Developmental Gene Expression 3
    Gene Ontology 13
    Phenotypes 6
  • 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
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
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Send questions and comments to User Support. 		last database update
09/15/2026
MGI 6.29 		The Jackson Laboratory