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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
Location & Maps
more
  • Sequence Map
    Chr4:47015669-47057306 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      41638 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 25.88 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    ANKS6, ankyrin repeat and sterile alpha motif domain containing 6
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ANKS6, ankyrin repeat and sterile alpha motif domain containing 6
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ANKRD14, NPHP16, PKDR1, SAMD6
  • Links
    NCBI Gene ID: 203286
    neXtProt AC: NX_Q68DC2

  • Chr Location
    9q22.33; chr9:98732009-98796531 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ANKS6 associations

Human Disease Mouse Models
       Nephronophthisis 16; NPHP16   OMIM: 615382
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 2 alleles in 2 genetic backgrounds
    20 images
    11 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.
  • All Mutations and Alleles
    18
  • Chemically induced (ENU)
    1
  • Gene trapped
    15
  • Targeted
    2
  • Incidental Mutations
Mice homozygous for an ENU-induced mutation exhibit complex congenital heart defects including TGA, DORV and septal defects associated with heterotaxy.
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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  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006773 VEGA Gene Model | MGI Sequence Detail 41638 C57BL/6J ±  kb
transcript OTTMUST00000015580 VEGA | MGI Sequence Detail 3980 Not Applicable  
polypeptide OTTMUSP00000007176 VEGA | MGI Sequence Detail 815 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    461 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000004053 ankyrin repeat and SAM domain-containing protein 6
  • InterPro Domains
    IPR002110 Ankyrin repeat
    IPR020683 Ankyrin repeat-containing domain
    IPR001660 Sterile alpha motif domain
    IPR013761 Sterile alpha motif/pointed domain
Molecular
Reagents
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  • All nucleic 13
    Genomic 1
    cDNA 12

    Microarray probesets 2
Other
Accession IDs
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MGI:2685481, MGI:5463576
References
more
  • Summaries
    All 32
    Gene Ontology 3
    Phenotypes 11
  • 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:231949 San Agustin JT, et al., Genetic link between renal birth defects and congenital heart disease. Nat Commun. 2016;7:11103

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
09/20/2016
MGI 6.05
The Jackson Laboratory