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Fam126a Gene Detail
Summary
  • Symbol
    Fam126a
  • Name
    family with sequence similarity 126, member A
  • Feature Type
    protein coding gene
  • IDs
    MGI:2149839
    NCBI Gene: 84652
Location & Maps
more
  • Sequence Map
    Chr5:23915276-24030690 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      115415 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 10.53 cM, cytoband A3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    FAM126A, family with sequence similarity 126 member A
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FAM126A, family with sequence similarity 126 member A
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DRCTNNB1A, HCC, HLD5, HYCC1
  • Links
    NCBI Gene ID: 84668
    neXtProt AC: NX_Q9BYI3

  • Chr Location
    7p15.3; chr7:22895848-23014195 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human FAM126A associations

Human Disease Mouse Models
       Leukodystrophy, Hypomyelinating, 5; HLD5   OMIM: 610532
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
    12 phenotype references
  • All Mutations and Alleles
    15
  • Chemically induced (other)
    2
  • Gene trapped
    10
  • Radiation induced
    1
  • Spontaneous
    1
  • Targeted
    1
  • Genomic Mutations
    4 involving Fam126a
  • Incidental Mutations
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
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021289 VEGA Gene Model | MGI Sequence Detail 115415 C57BL/6J ±  kb
transcript OTTMUST00000050470 VEGA | MGI Sequence Detail 5659 Not Applicable  
polypeptide OTTMUSP00000023563 VEGA | MGI Sequence Detail 521 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    1390 from dbSNP Build 142
Protein
Information
less
  • UniProt
    3 Sequences
  • InterPro Domains
    IPR018619 Hyccin
Molecular
Reagents
less
  • All nucleic 18
    cDNA 16
    Primer pair 2

    Microarray probesets 4
References
more
  • Summaries
    All 27
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 5
    Phenotypes 12
  • Earliest
    J:70956 Kawasoe T, et al., Isolation and characterization of a novel human gene, DRCTNNB1A, the expression of which is down-regulated by beta-catenin. Cancer Res. 2000 Jul 1;60(13):3354-8
  • Latest
    J:228502 Baskin JM, et al., The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. Nat Cell Biol. 2016 Jan;18(1):132-8

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
11/29/2016
MGI 6.06
The Jackson Laboratory