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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
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:3372257-3399571 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 1.76 cM, cytoband A1-A2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    181 from dbSNP Build 142
  • Strain Annotations
    17
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1343184
 protein coding gene Chr6:3372257-3399572 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030419
 protein coding gene Chr6:89362-102090 (-)
A/J MGP_AJ_G0030392
 protein coding gene Chr6:78519-94044 (-)
AKR/J MGP_AKRJ_G0030319
 protein coding gene Chr6:76904-121201 (-)
BALB/cJ MGP_BALBcJ_G0030401
 protein coding gene Chr6:69450-109842 (-)
C3H/HeJ MGP_C3HHeJ_G0030115
 protein coding gene Chr6:72002-117844 (-)
C57BL/6NJ MGP_C57BL6NJ_G0030856
 protein coding gene Chr6:80437-92987 (-)
CAROLI/EiJ no annotation
CAST/EiJ MGP_CASTEiJ_G0029516
 protein coding gene Chr6:64804-119526 (-)
CBA/J MGP_CBAJ_G0030093
 protein coding gene Chr6:84318-97069 (-)
DBA/2J MGP_DBA2J_G0030237
 protein coding gene Chr6:65942-97368 (-)
FVB/NJ MGP_FVBNJ_G0030191
 protein coding gene Chr6:78413-108884 (-)
LP/J MGP_LPJ_G0030324
 protein coding gene Chr6:81666-120085 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030227
 protein coding gene Chr6:108726-187928 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0030886
 protein coding gene Chr6:79851-100926 (-)
PWK/PhJ MGP_PWKPhJ_G0029231
 protein coding gene Chr6:34059-75173 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029067
 protein coding gene Chr6:93518-145705 (-)
WSB/EiJ MGP_WSBEiJ_G0029593
 protein coding gene Chr6:75161-107797 (-)



Homology
more
  • Human Ortholog
    SAMD9L, sterile alpha motif domain containing 9 like
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SAMD9L, sterile alpha motif domain containing 9 like
  • Synonyms
    ATXPC, C7DELq, C7orf6, DEL7q, DRIF2, M7MLS1, MLSM7, SCA49, UEF1
  • Links
    NCBI Gene ID: 219285
    neXtProt AC: NX_Q8IVG5
    UniProt: Q8IVG5

  • Chr Location
    7q21.2; chr7:93130056-93148385 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Samd9l mouse models; 1 with human SAMD9L 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
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 2 alleles in 3 genetic backgrounds
    2 phenotypes from multigenic genotypes
    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 that are either heterozygous or homozygous for a reporter allele develop myeloid diseases and acute myelogenous leukemia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    11
  • GO References
    4
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
non-membrane-bounded 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
    801
  • Tissues
    44
  • cDNA Data
    56
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 209086 NCBI Gene Model | MGI Sequence Detail 27315 C57BL/6J ±  kb
    transcript NM_010156 RefSeq | MGI Sequence Detail 5216 ZRU/MplStud  
    polypeptide Q69Z37 UniProt | EBI | MGI Sequence Detail 1561 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 59
      Genomic 1
      cDNA 56
      Primer pair 2

      Microarray probesets 2
    References
    more
    • Summaries
      All 36
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 4
      Phenotypes 16
    • 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:346108 Abdelhamed S, et al., Mutant Samd9l expression impairs hematopoiesis and induces bone marrow failure in mice. J Clin Invest. 2022 Nov 1;132(21):e158869
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    04/09/2024
    MGI 6.23     		The Jackson Laboratory