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Samd9l Gene Detail
Summary
  • Symbol
    Samd9l
  • Name
    sterile alpha motif domain containing 9-like
  • Synonyms
    ESTM25
  • Feature Type
    protein coding gene
  • IDs
    MGI:1343184
    NCBI Gene: 209086
Location & Maps
more
  • Genetic Map
    Chromosome 6, 1.76 cM, cytoband A1-A2
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    SAMD9L, sterile alpha motif domain containing 9 like
  • Vertebrate Orthologs
    7
  • Human Ortholog
    SAMD9L, sterile alpha motif domain containing 9 like
    Orthology source: HomoloGene
  • Synonyms
    C7orf6, DRIF2, UEF1
  • Links
    NCBI Gene ID: 219285
    neXtProt AC: NX_Q8IVG5

  • Chr Location
    7q21.2; chr7:93130054-93148393 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Samd9l mouse models

Human Disease Mouse Models
       Myelodysplastic Syndrome; MDS   OMIM: 614286 View 1 model
Tumoral Calcinosis, Normophosphatemic, Familial; NFTC   OMIM: 610455
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    20 phenotypes from 1 allele in 2 genetic backgrounds
    2 phenotypes from multigenic genotypes
    9 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Gene trapped
    2
  • Targeted
    3
  • Incidental Mutations
Mice that are either heterozygous or homozygous for a reporter allele develop myeloid diseases and acute myelogenous leukemia.
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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000029668 VEGA Gene Model | MGI Sequence Detail 27316 C57BL/6J ±  kb
transcript OTTMUST00000073592 VEGA | MGI Sequence Detail 5330 Not Applicable  
polypeptide OTTMUSP00000038123 VEGA | MGI Sequence Detail 1579 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    181 from dbSNP Build 142
  • PCR
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000031040 sterile alpha motif domain-containing protein 9-like
  • InterPro Domains
    IPR027417 P-loop containing nucleoside triphosphate hydrolase
    IPR001660 Sterile alpha motif domain
    IPR013761 Sterile alpha motif/pointed domain
Molecular
Reagents
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  • All nucleic 59
    Genomic 1
    cDNA 56
    Primer pair 2

    Microarray probesets 2
References
more
  • Summaries
    All 27
    Developmental Gene Expression 2
    Diseases 2
    Gene Ontology 1
    Phenotypes 9
  • Earliest
    J:53165 Thomas JW, et al., Human-mouse comparative mapping of the genomic region containing CDK6: localization of an evolutionary breakpoint. Mamm Genome. 1999 Jul;10(7):764-7
  • Latest
    J:228563 Koscielny G, et al., The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data. Nucleic Acids Res. 2014 Jan;42(Database issue):D802-9

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/24/2016
MGI 6.04
The Jackson Laboratory