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Fam83h Gene Detail
Summary
  • Symbol
    Fam83h
  • Name
    family with sequence similarity 83, member H
  • Feature Type
    protein coding gene
  • IDs
    MGI:2145900
    NCBI Gene: 105732
  • Gene Overview
    MyGene.info: FAM83H
Location & Maps
more
  • Sequence Map
    Chr15:76001093-76014336 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      13244 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 35.22 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    FAM83H, family with sequence similarity 83 member H
  • Vertebrate Orthologs
    11
  • Human Ortholog
    FAM83H, family with sequence similarity 83 member H
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AI3
  • Links
    NCBI Gene ID: 286077
    neXtProt AC: NX_Q6ZRV2

  • Chr Location
    8q24.3; chr8:143723933-143738030 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human FAM83H associations

Human Disease Mouse Models
       Amelogenesis Imperfecta, Type III; AI3   OMIM: 130900
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    25 phenotype references
  • All Mutations and Alleles
    15
  • Chemically induced (other)
    3
  • Gene trapped
    10
  • Radiation induced
    2
  • Genomic Mutations
    5 involving Fam83h
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
less
  • 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
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000046761 Ensembl Gene Model | MGI Sequence Detail 13244 C57BL/6J ±  kb
transcript ENSMUST00000060807 Ensembl | MGI Sequence Detail 4502 Not Applicable  
polypeptide ENSMUSP00000059839 Ensembl | MGI Sequence Detail 1209 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    20 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000029486 protein FAM83H
  • InterPro Domains
    IPR012461 Protein of unknown function DUF1669
Molecular
Reagents
less
  • All nucleic 13
    cDNA 12
    Primer pair 1

    Microarray probesets 4
References
more
  • Summaries
    All 21
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 2
    Phenotypes 25
  • Earliest
    J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
  • Latest
    J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory