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Galnt3 Gene Detail
Summary
  • Symbol
    Galnt3
  • Name
    UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3
  • Synonyms
    ppGaNTase-T3
  • Feature Type
    protein coding gene
  • IDs
    MGI:894695
    NCBI Gene: 14425
  • Gene Overview
    MyGene.info: GALNT3
Location & Maps
more
  • Sequence Map
    Chr2:66082766-66124994 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      42229 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 38.99 cM, cytoband C3
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    GALNT3, polypeptide N-acetylgalactosaminyltransferase 3
  • Vertebrate Orthologs
    9
  • Human Ortholog
    GALNT3, polypeptide N-acetylgalactosaminyltransferase 3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    GalNAc-T3, HFTC, HHS
  • Links
    NCBI Gene ID: 2591
    neXtProt AC: NX_Q14435

  • Chr Location
    2q24-q31; chr2:165747803-165794650 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Galnt3 mouse models

Human Disease Mouse Models
       Tumoral Calcinosis, Hyperphosphatemic, Familial; HFTC   OMIM: 211900 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    28 phenotypes from 3 alleles in 3 genetic backgrounds
    2 images
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    1
  • Gene trapped
    1
  • Targeted
    3
  • Genomic Mutations
    1 involving Galnt3
  • Incidental Mutations
Mice homozygous for a knock-out allele exhibit decreased circulating alkaline phosphatase, hypercalcemia, hyperphosphatemia, decreased circulating parathyroid hormone, and male specific postnatal growth retardation, infertility, and increase in bone density.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000013003 VEGA Gene Model | MGI Sequence Detail 42229 C57BL/6J ±  kb
transcript OTTMUST00000031330 VEGA | MGI Sequence Detail 3885 Not Applicable  
polypeptide OTTMUSP00000014011 VEGA | MGI Sequence Detail 633 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    388 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000007825 polypeptide N-acetylgalactosaminyltransferase 3
  • EC
  • InterPro Domains
    IPR001173 Glycosyltransferase 2-like
    IPR029044 Nucleotide-diphospho-sugar transferases
    IPR000772 Ricin B, lectin domain
Molecular
Reagents
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  • All nucleic 75
    cDNA 74
    Primer pair 1

    Microarray probesets 6
References
more
  • Summaries
    All 38
    Developmental Gene Expression 2
    Diseases 2
    Gene Ontology 2
    Phenotypes 14
  • Earliest
    J:36626 Zara J, et al., Cloning and expression of mouse UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-T3. Biochem Biophys Res Commun. 1996 Nov 1;228(1):38-44
  • Latest
    J:218346 Ichikawa S, et al., Genetic rescue of glycosylation-deficient Fgf23 in the Galnt3 knockout mouse. Endocrinology. 2014 Oct;155(10):3891-8

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory