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Ankrd50 Gene Detail
Summary
  • Symbol
    Ankrd50
  • Name
    ankyrin repeat domain 50
  • Synonyms
    E430012K20Rik, mKIAA3019
  • Feature Type
    protein coding gene
  • IDs
    MGI:2139777
    NCBI Gene: 99696
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:38503408-38538993 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 18.49 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    933 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2139777
 protein coding gene Chr3:38503408-38539005 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027175
 protein coding gene Chr3:36332702-36370054 (-)
A/J MGP_AJ_G0027135
 protein coding gene Chr3:35595096-35630733 (-)
AKR/J MGP_AKRJ_G0027104
 protein coding gene Chr3:36263340-36298946 (-)
BALB/cJ MGP_BALBcJ_G0027147
 protein coding gene Chr3:35344536-35380819 (-)
C3H/HeJ MGP_C3HHeJ_G0026890
 protein coding gene Chr3:36337285-36373512 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027593
 protein coding gene Chr3:37986636-38023551 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024954
 protein coding gene Chr3:33260339-33296431 (-)
CAST/EiJ MGP_CASTEiJ_G0026343
 protein coding gene Chr3:36220262-36256067 (-)
CBA/J MGP_CBAJ_G0026867
 protein coding gene Chr3:39039957-39077228 (-)
DBA/2J MGP_DBA2J_G0027001
 protein coding gene Chr3:35054966-35091418 (-)
FVB/NJ MGP_FVBNJ_G0026969
 protein coding gene Chr3:34467741-34503673 (-)
LP/J MGP_LPJ_G0027113
 protein coding gene Chr3:37152844-37189435 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026988
 protein coding gene Chr3:41510814-41547242 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027652
 protein coding gene Chr3:36127105-36164115 (-)
PWK/PhJ MGP_PWKPhJ_G0026076
 protein coding gene Chr3:34738622-34774862 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025888
 protein coding gene Chr3:35473062-35510524 (-)
WSB/EiJ MGP_WSBEiJ_G0026417
 protein coding gene Chr3:36139005-36175493 (-)



Homology
more
  • Human Ortholog
    ANKRD50, ankyrin repeat domain containing 50
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ANKRD50, ankyrin repeat domain containing 50
  • Links
    NCBI Gene ID: 57182
    neXtProt AC: NX_Q9ULJ7
    UniProt: Q9ULJ7

  • Chr Location
    4q28.1; chr4:124664048-124712732 (-)  GRCh38
Human Diseases
less
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    14 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    1
  • GO References
    1
Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.
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
    706
  • cDNA Data
    50
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000044864 Ensembl Gene Model | MGI Sequence Detail 35586 C57BL/6J ±  kb
transcript ENSMUST00000156038 Ensembl | MGI Sequence Detail 7031 Not Applicable  
polypeptide ENSMUSP00000122842 Ensembl | MGI Sequence Detail 1390 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    7 Sequences
  • InterPro Domains
    IPR002110 Ankyrin repeat
    IPR036770 Ankyrin repeat-containing domain superfamily
    IPR050842 Cul2-RING E3 Ligase Substrate-Recognition Fem-1
    IPR050889 Dendritic Spine Regulation and Scaffold
    IPR051165 Multifunctional Ankyrin Repeat Domain-Containing Protein
  • GlyGen
    A6H6J9 4 sites, 3 N-linked glycans (3 sites), 1 O-linked glycan (1 site)
Molecular
Reagents
less
  • All nucleic 50
    cDNA 50

    Microarray probesets 4
References
more
  • Summaries
    All 35
    Diseases 1
    Gene Ontology 1
    Phenotypes 14
  • Earliest
    J:64276 Lyon MF, et al., Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutat Res. 1979 Nov;63(1):161-73
  • Latest
    J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
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
12/10/2024
MGI 6.24 		The Jackson Laboratory