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Smc5 Gene Detail
Summary
  • Symbol
    Smc5
  • Name
    structural maintenance of chromosomes 5
  • Synonyms
    MGC:7569, Smc5l1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2385088
    NCBI Gene: 226026
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr19:23183815-23251261 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 19, 18.04 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1804 from dbSNP Build 142
  • Strain Annotations
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2385088
 protein coding gene Chr19:23183815-23251286 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024984
 protein coding gene Chr19:21340611-21415450 (-)
A/J MGP_AJ_G0024961
 protein coding gene Chr19:20171887-20240749 (-)
AKR/J MGP_AKRJ_G0024931
 protein coding gene Chr19:20945023-21019772 (-)
BALB/cJ MGP_BALBcJ_G0024960
 protein coding gene Chr19:20215346-20285900 (-)
C3H/HeJ MGP_C3HHeJ_G0024718
 protein coding gene Chr19:20907905-20985630 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025402
 protein coding gene Chr19:22028092-22109490 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022821
 protein coding gene Chr19:20358714-20426979 (-)
CAST/EiJ MGP_CASTEiJ_G0024186
 protein coding gene Chr19:20620162-20698522 (-)
CBA/J MGP_CBAJ_G0024696
 protein coding gene Chr19:22960298-23046923 (-)
DBA/2J MGP_DBA2J_G0024828
 protein coding gene Chr19:20190812-20261198 (-)
FVB/NJ MGP_FVBNJ_G0024789
 protein coding gene Chr19:20041817-20115669 (-)
LP/J MGP_LPJ_G0024912
 protein coding gene Chr19:21287566-21365167 (-)
NOD/ShiLtJ no annotation
NZO/HlLtJ MGP_NZOHlLtJ_G0025457
 protein coding gene Chr19:20938972-21014504 (-)
PWK/PhJ MGP_PWKPhJ_G0023935
 protein coding gene Chr19:19761297-19836977 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023740
 protein coding gene Chr19:20134688-20224055 (-)
WSB/EiJ MGP_WSBEiJ_G0024254
 protein coding gene Chr19:20956501-21031498 (-)



Homology
more
  • Human Ortholog
    SMC5, structural maintenance of chromosomes 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMC5, structural maintenance of chromosomes 5
  • Synonyms
    ATELS2, SMC5L1
  • Links
    NCBI Gene ID: 23137
    neXtProt AC: NX_Q8IY18
    UniProt: Q8IY18

  • Chr Location
    9q21.12; chr9:70258978-70354873 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human SMC5 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
    21 phenotypes from 3 alleles in 2 genetic backgrounds
    15 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 knockout in embryonic stem cells causes abnormal mitosis, increased apoptosis and a shift from pluripotency to differentiation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    50
  • GO References
    9
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
membraneless 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
    711
  • Tissues
    5
  • cDNA Data
    133
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000024943 Ensembl Gene Model | MGI Sequence Detail 67447 C57BL/6J ±  kb
    transcript ENSMUST00000087556 Ensembl | MGI Sequence Detail 5683 Not Applicable  
    polypeptide ENSMUSP00000084837 Ensembl | MGI Sequence Detail 1101 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000015274 structural maintenance of chromosomes protein 5
      (term hierarchy)
    • InterPro Domains
      IPR027417 P-loop containing nucleoside triphosphate hydrolase
      IPR038729 Rad50/SbcC-type AAA domain
      IPR003395 RecF/RecN/SMC, N-terminal
      IPR027131 Structural maintenance of chromosomes protein 5
    Molecular
    Reagents
    less
    • All nucleic 135
      cDNA 133
      Primer pair 1
      Other 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 45
      Developmental Gene Expression 3
      Gene Ontology 9
      Phenotypes 15
    • Earliest
      J:162301 Taylor EM, et al., Characterization of a novel human SMC heterodimer homologous to the Schizosaccharomyces pombe Rad18/Spr18 complex. Mol Biol Cell. 2001 Jun;12(6):1583-94
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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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    12/10/2024
    MGI 6.24     		The Jackson Laboratory