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Samd8 Gene Detail
Summary
  • Symbol
    Samd8
  • Name
    sterile alpha motif domain containing 8
  • Synonyms
    1110053F04Rik, 1700010P07Rik, Smsr
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914880
    NCBI Gene: 67630
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:21800599-21848794 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 11.86 cM, cytoband B
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    380 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914880
 protein coding gene Chr14:21800599-21848794 (+)
129S1/SvImJ MGP_129S1SvImJ_G0021055
 protein coding gene Chr14:14592614-14644369 (+)
A/J MGP_AJ_G0021004
 protein coding gene Chr14:14208904-14259214 (+)
AKR/J MGP_AKRJ_G0020981
 protein coding gene Chr14:14773786-14825508 (+)
BALB/cJ MGP_BALBcJ_G0021007
 protein coding gene Chr14:14315868-14364500 (+)
C3H/HeJ MGP_C3HHeJ_G0020791
 protein coding gene Chr14:14698835-14748902 (+)
C57BL/6NJ MGP_C57BL6NJ_G0021440
 protein coding gene Chr14:15073826-15119679 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0019008
 protein coding gene Chr14:14523959-14573469 (+)
CAST/EiJ MGP_CASTEiJ_G0020315
 protein coding gene Chr14:14507467-14557358 (+)
CBA/J MGP_CBAJ_G0020757
 protein coding gene Chr14:15848025-15903133 (+)
DBA/2J MGP_DBA2J_G0020880
 protein coding gene Chr14:14044457-14093601 (+)
FVB/NJ MGP_FVBNJ_G0020863
 protein coding gene Chr14:13931747-13980439 (+)
LP/J MGP_LPJ_G0020956
 protein coding gene Chr14:14800914-14850941 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020889
 protein coding gene Chr14:15601450-15650866 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0021473
 protein coding gene Chr14:14553636-14604286 (+)
PWK/PhJ MGP_PWKPhJ_G0020064
 protein coding gene Chr14:13631863-13680543 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019886
 protein coding gene Chr14:14370904-14419692 (+)
WSB/EiJ MGP_WSBEiJ_G0020371
 protein coding gene Chr14:14546621-14600135 (+)



Homology
more
  • Human Ortholog
    SAMD8, sterile alpha motif domain containing 8
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SAMD8, sterile alpha motif domain containing 8
  • Synonyms
    HEL-177, SMSr
  • Links
    NCBI Gene ID: 142891
    neXtProt AC: NX_Q96LT4
    UniProt: Q96LT4

  • Chr Location
    10q22.2; chr10:75099586-75182123 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotypes from 3 alleles in 2 genetic backgrounds
    3 phenotypes from multigenic genotypes
    9 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 a knock-out allele exhibit decreased ceramide phosphoethanolamine synthase activity but normal liver, kidney and spleen histology.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    25
  • GO References
    7
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
    706
  • cDNA Data
    55
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 67630 NCBI Gene Model | MGI Sequence Detail 48196 C57BL/6J ±  kb
transcript NM_001359954 RefSeq | MGI Sequence Detail 7071 C57BL/6  
polypeptide Q9DA37 UniProt | EBI | MGI Sequence Detail 478 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 55
    cDNA 55

    Microarray probesets 6
Other
Accession IDs
less
MGI:1916072
References
more
  • Summaries
    All 33
    Gene Ontology 7
    Phenotypes 9
  • 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:340294 Chiang YP, et al., Sphingomyelin synthase-related protein SMSr is a phosphatidylethanolamine phospholipase C that promotes nonalcoholic fatty liver disease. J Biol Chem. 2023 Aug 14;299(9):105162
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
04/09/2024
MGI 6.23 		The Jackson Laboratory