About   Help   FAQ
Gmppb Gene Detail
Summary
  • 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
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
    33 from dbSNP Build 142
  • Strain Annotations
    18
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 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 (+)



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
    neXtProt AC: NX_Q9Y5P6
    UniProt: Q9Y5P6

  • Chr Location
    3p21.31; chr3:49716844-49723973 (-)  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
    2 phenotypes from 1 allele in 1 genetic background
    4 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
    12
  • GO References
    7
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
non-membrane-bounded 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
    803
  • Tissues
    97
  • cDNA Data
    9
  • Literature Summary
    3
Sequences &
Gene Models
less
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
Molecular
Reagents
less
  • All nucleic 9
    cDNA 9

    Microarray probesets 4
Other
Accession IDs
less
MGI:2143016
References
more
  • Summaries
    All 31
    Developmental Gene Expression 3
    Gene Ontology 7
    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
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
04/16/2024
MGI 6.23 		The Jackson Laboratory