About   Help   FAQ
Ss18 Gene Detail
Summary
  • Symbol
    Ss18
  • Name
    SS18, subunit of BAF chromatin remodeling complex
  • Synonyms
    Ssxt
  • Feature Type
    protein coding gene
  • IDs
    MGI:107708
    NCBI Gene: 268996
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:14757255-14815971 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 18, 8.14 cM, cytoband B1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    191 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_107708
 protein coding gene Chr18:14757255-14817476 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024168
 protein coding gene Chr18:11906188-11971032 (-)
A/J MGP_AJ_G0024130
 protein coding gene Chr18:11640295-11728996 (-)
AKR/J MGP_AKRJ_G0024097
 protein coding gene Chr18:12012987-12105247 (-)
BALB/cJ MGP_BALBcJ_G0024129
 protein coding gene Chr18:11599259-11665969 (-)
C3H/HeJ MGP_C3HHeJ_G0023896
 protein coding gene Chr18:11883973-11951980 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024574
 protein coding gene Chr18:12480497-12544548 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022014
 protein coding gene Chr18:11171488-11228997 (-)
CAST/EiJ MGP_CASTEiJ_G0023373
 protein coding gene Chr18:11787461-11851625 (-)
CBA/J MGP_CBAJ_G0023868
 protein coding gene Chr18:12657659-12718594 (-)
DBA/2J MGP_DBA2J_G0023997
 protein coding gene Chr18:11487074-11545203 (-)
FVB/NJ MGP_FVBNJ_G0023962
 protein coding gene Chr18:11325862-11389145 (-)
LP/J MGP_LPJ_G0024080
 protein coding gene Chr18:12023763-12087418 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0023991
 protein coding gene Chr18:12769490-12843584 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024620
 protein coding gene Chr18:11762989-11853508 (-)
PWK/PhJ MGP_PWKPhJ_G0023119
 protein coding gene Chr18:11584538-11644219 (-)
SPRET/EiJ MGP_SPRETEiJ_G0022928
 protein coding gene Chr18:12061215-12123230 (-)
WSB/EiJ MGP_WSBEiJ_G0023439
 protein coding gene Chr18:11764697-11826321 (-)



Homology
more
  • Human Ortholog
    SS18, SS18 subunit of BAF chromatin remodeling complex
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SS18, SS18 subunit of BAF chromatin remodeling complex
  • Synonyms
    SMARCL1, SSXT, SYT
  • Links
    NCBI Gene ID: 6760
    neXtProt AC: NX_Q15532
    UniProt: Q15532

  • Chr Location
    18q11.2; chr18:26016253-26091219 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SS18 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    22 phenotypes from 2 alleles in 3 genetic backgrounds
    1 phenotype from multigenic genotypes
    10 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.
Homozygous mutation of this gene results in early gestational lethality and embryonic growth arrest with placental failure caused by impaired placental vascularization and chorioallantoic fusion.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • 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
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
    708
  • Tissues
    2
  • cDNA Data
    17
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000037013 Ensembl Gene Model | MGI Sequence Detail 58717 C57BL/6J ±  kb
    transcript ENSMUST00000040924 Ensembl | MGI Sequence Detail 3098 Not Applicable  
    polypeptide ENSMUSP00000046320 Ensembl | MGI Sequence Detail 418 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 20
      Genomic 1
      cDNA 18
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-36284
    References
    more
    • Summaries
      All 43
      Developmental Gene Expression 6
      Gene Ontology 8
      Phenotypes 10
    • Earliest
      J:128 Phelan JP, Genetic variability and rodent models of human aging. Exp Gerontol. 1992;27(2):147-59
    • Latest
      J:330574 Fulton SL, et al., Rescue of deficits by Brwd1 copy number restoration in the Ts65Dn mouse model of Down syndrome. Nat Commun. 2022 Oct 26;13(1):6384
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    04/16/2024
    MGI 6.23     		The Jackson Laboratory