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Lama5 Gene Detail
Summary
  • Symbol
    Lama5
  • Name
    laminin, alpha 5
  • Synonyms
    mKIAA0533
  • Feature Type
    protein coding gene
  • IDs
    MGI:105382
    NCBI Gene: 16776
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:179818166-179867652 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 102.70 cM
  • Mapping Data
    8 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1260 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105382
 protein coding gene Chr2:179818166-179867652 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026989
 protein coding gene Chr2:186682743-186732479 (-)
A/J MGP_AJ_G0026955
 protein coding gene Chr2:179012687-179062084 (-)
AKR/J MGP_AKRJ_G0026925
 protein coding gene Chr2:184369537-184421146 (-)
BALB/cJ MGP_BALBcJ_G0026964
 protein coding gene Chr2:179474826-179524867 (-)
C3H/HeJ MGP_C3HHeJ_G0026705
 protein coding gene Chr2:184724845-184774020 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027410
 protein coding gene Chr2:192071847-192126641 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024777
 protein coding gene Chr2:169704309-169754605 (-)
CAST/EiJ MGP_CASTEiJ_G0026164
 protein coding gene Chr2:182966039-183016438 (-)
CBA/J MGP_CBAJ_G0026682
 protein coding gene Chr2:199057489-199110988 (-)
DBA/2J MGP_DBA2J_G0026820
 protein coding gene Chr2:178114729-178164634 (-)
FVB/NJ MGP_FVBNJ_G0026786
 protein coding gene Chr2:176711678-176765807 (-)
LP/J MGP_LPJ_G0026921
 protein coding gene Chr2:186683373-186733675 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026805
 protein coding gene Chr2:201683643-201734828 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027469
 protein coding gene Chr2:184334161-184383101 (-)
PWK/PhJ MGP_PWKPhJ_G0025900
 protein coding gene Chr2:175616985-175666777 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025700
 protein coding gene Chr2:180821776-180875590 (-)
WSB/EiJ MGP_WSBEiJ_G0026236
 protein coding gene Chr2:185301144-185352790 (-)



Homology
more
  • Human Ortholog
    LAMA5, laminin subunit alpha 5
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    LAMA5, laminin subunit alpha 5
  • Synonyms
    BBDS2, NPHS26
  • Links
    NCBI Gene ID: 3911
    neXtProt AC: NX_O15230
    UniProt: O15230

  • Chr Location
    20q13.33; chr20:62307955-62367312 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Lama5 mouse models; 1 with human LAMA5 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
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    111 phenotypes from 9 alleles in 10 genetic backgrounds
    10 phenotypes from multigenic genotypes
    31 images
    61 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.
Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    58
  • GO References
    29
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
    1118
  • Tissues
    159
  • cDNA Data
    19
  • Literature Summary
    115
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16776 NCBI Gene Model | MGI Sequence Detail 49487 C57BL/6J ±  kb
    transcript NM_001081171 RefSeq | MGI Sequence Detail 11404 ZRU/MplStud  
    polypeptide Q61001 UniProt | EBI | MGI Sequence Detail 3718 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 31
      Genomic 4
      cDNA 19
      Primer pair 5
      Other 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-33051, MGI:2138757, MGI:2138758, MGI:2139098
    References
    more
    • Summaries
      All 226
      Developmental Gene Expression 115
      Diseases 1
      Gene Ontology 29
      Phenotypes 61
    • Earliest
      J:29907 Miner JH, et al., Molecular cloning of a novel laminin chain, alpha 5, and widespread expression in adult mouse tissues. J Biol Chem. 1995 Dec 1;270(48):28523-6
    • Latest
      J:353621 Patel VN, et al., Specific 3-O-sulfated heparan sulfate domains regulate salivary gland basement membrane metabolism and epithelial differentiation. Nat Commun. 2024 Aug 31;15(1):7584
    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
    11/12/2024
    MGI 6.24     		The Jackson Laboratory