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Anks6 Gene Detail
Summary
  • Symbol
    Anks6
  • Name
    ankyrin repeat and sterile alpha motif domain containing 6
  • Synonyms
    2210417J20Rik, b2b1801.1Clo, LOC269533, SamCystin, Samd6
  • Feature Type
    protein coding gene
  • IDs
    MGI:1922941
    NCBI Gene: 75691
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:47015669-47057427 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 25.88 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1454 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1922941
 protein coding gene Chr4:47015365-47057427 (-)
129S1/SvImJ MGP_129S1SvImJ_G0028264
 protein coding gene Chr4:45373652-45418724 (-)
A/J MGP_AJ_G0028223
 protein coding gene Chr4:43674246-43716142 (-)
AKR/J MGP_AKRJ_G0028173
 protein coding gene Chr4:44766413-44812593 (-)
BALB/cJ MGP_BALBcJ_G0028243
 protein coding gene Chr4:43794407-43836413 (-)
C3H/HeJ MGP_C3HHeJ_G0027964
 protein coding gene Chr4:45361621-45404373 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028684
 protein coding gene Chr4:47041338-47084496 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025993
 protein coding gene Chr4:41059277-41101086 (-)
CAST/EiJ MGP_CASTEiJ_G0027403
 protein coding gene Chr4:44937004-44983491 (-)
CBA/J MGP_CBAJ_G0027930
 protein coding gene Chr4:48526968-48577585 (-)
DBA/2J MGP_DBA2J_G0028080
 protein coding gene Chr4:43578854-43620802 (-)
FVB/NJ MGP_FVBNJ_G0028047
 protein coding gene Chr4:42841012-42884124 (-)
LP/J MGP_LPJ_G0028179
 protein coding gene Chr4:45424324-45468568 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028071
 protein coding gene Chr4:51580666-51624619 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028719
 protein coding gene Chr4:44990889-45032484 (-)
PWK/PhJ MGP_PWKPhJ_G0027128
 protein coding gene Chr4:43683928-43726557 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026956
 protein coding gene Chr4:44496355-44537986 (-)
WSB/EiJ MGP_WSBEiJ_G0027481
 protein coding gene Chr4:44914382-44956978 (-)



Homology
more
  • Human Ortholog
    ANKS6, ankyrin repeat and sterile alpha motif domain containing 6
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ANKS6, ankyrin repeat and sterile alpha motif domain containing 6
  • Synonyms
    ANKRD14, NPHP16, PKDR1, SAMD6
  • Links
    NCBI Gene ID: 203286
    neXtProt AC: NX_Q68DC2
    UniProt: Q68DC2

  • Chr Location
    9q22.33; chr9:98731329-98796965 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Anks6 mouse models; 1 with human ANKS6 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    43 phenotypes from 3 alleles in 3 genetic backgrounds
    20 images
    16 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 an ENU-induced mutation exhibit complex congenital heart defects including TGA, DORV and septal defects associated with heterotaxy. Null mice show perinatal lethality, hetrotaxia, liver, bile duct, and cholangiocyte primary cilium abnormalities, and congential heart defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • GO References
    8
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
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
    721
  • Tissues
    10
  • cDNA Data
    13
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000066191 Ensembl Gene Model | MGI Sequence Detail 41759 C57BL/6J ±  kb
    transcript ENSMUST00000229609 Ensembl | MGI Sequence Detail 3438 Not Applicable  
    polypeptide ENSMUSP00000155271 Ensembl | MGI Sequence Detail 883 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000004053 ankyrin repeat and SAM domain-containing protein 6
      (term hierarchy)
    • InterPro Domains
      IPR002110 Ankyrin repeat
      IPR051631 Ankyrin repeat and KH/SAM domain-containing protein
      IPR036770 Ankyrin repeat-containing domain superfamily
      IPR001660 Sterile alpha motif domain
      IPR013761 Sterile alpha motif/pointed domain superfamily
    • GlyGen
      Q6GQX6 1 site, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 15
      Genomic 2
      cDNA 13

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:2685481, MGI:5463576
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 8
      Phenotypes 16
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • 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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory