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Col12a1 Gene Detail
Summary
  • Symbol
    Col12a1
  • Name
    collagen, type XII, alpha 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:88448
    NCBI Gene: 12816
  • Alliance
  • Transcription Start Sites
    11 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:79598991-79718831 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 43.82 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    621 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88448
protein coding gene Chr9:79598987-79719599 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035074
protein coding gene Chr9:80125054-80251024 (-)
A/J MGP_AJ_G0035055
protein coding gene Chr9:77392903-77513674 (-)
AKR/J MGP_AKRJ_G0034983
protein coding gene Chr9:79192050-79314738 (-)
BALB/cJ MGP_BALBcJ_G0035043
protein coding gene Chr9:77013468-77134494 (-)
C3H/HeJ MGP_C3HHeJ_G0034755
protein coding gene Chr9:79713336-79837665 (-)
C57BL/6NJ MGP_C57BL6NJ_G0035566
protein coding gene Chr9:82312170-82438687 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0032473
protein coding gene Chr9:76534325-76654312 (-)
CAST/EiJ MGP_CASTEiJ_G0034073
protein coding gene Chr9:80041307-80166409 (-)
CBA/J MGP_CBAJ_G0034728
protein coding gene Chr9:85230271-85369591 (-)
DBA/2J MGP_DBA2J_G0034886
protein coding gene Chr9:77000764-77120134 (-)
FVB/NJ MGP_FVBNJ_G0034829
protein coding gene Chr9:76215147-76338356 (-)
LP/J MGP_LPJ_G0034967
protein coding gene Chr9:80381360-80505862 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0034871
protein coding gene Chr9:86468849-86615001 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0035587
protein coding gene Chr9:79387041-79515202 (-)
PWK/PhJ MGP_PWKPhJ_G0033777
protein coding gene Chr9:77197712-77319007 (-)
SPRET/EiJ MGP_SPRETEiJ_G0033613
protein coding gene Chr9:79532688-79667162 (-)
WSB/EiJ MGP_WSBEiJ_G0034190
protein coding gene Chr9:79344073-79471684 (-)



Homology
more
  • Human Ortholog
    COL12A1, collagen type XII alpha 1 chain
  • Vertebrate Orthologs
    10
  • Human Ortholog
    COL12A1, collagen type XII alpha 1 chain
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BA209D8.1, BTHLM2, COL12A1L, DJ234P15.1, EDSMYP, UCMD2
  • Links
    NCBI Gene ID: 1303
    neXtProt AC: NX_Q99715
    UniProt: Q99715

  • Chr Location
    6q13-q14.1; chr6:75084326-75206262 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    29 phenotypes from 1 allele in 2 genetic backgrounds
    12 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit partial perinatal lethality, decreased body weight, shorter and slender long bones, altered vertebrae structure, kyphosis, decreased bone strength, and abnormalities in osteoblast differentiation and bone matrix formation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000032332 Ensembl Gene Model | MGI Sequence Detail 119841 C57BL/6J ±  kb
    transcript ENSMUST00000071750 Ensembl | MGI Sequence Detail 11511 Not Applicable  
    polypeptide ENSMUSP00000071662 Ensembl | MGI Sequence Detail 3065 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • InterPro Domains
      IPR039082 Collagen alpha-1(XII) chain
      IPR008160 Collagen triple helix repeat
      IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
      IPR003961 Fibronectin type III
      IPR036116 Fibronectin type III superfamily
      IPR013783 Immunoglobulin-like fold
      IPR001791 Laminin G domain
      IPR036465 von Willebrand factor A-like domain superfamily
      IPR002035 von Willebrand factor, type A
    Molecular
    Reagents
    less
    • All nucleic 44
      Genomic 6
      cDNA 34
      Primer pair 1
      Other 3

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-2055, MGI:2143350
    References
    more
    • Summaries
      All 58
      Developmental Gene Expression 16
      Gene Ontology 9
      Phenotypes 12
    • Earliest
      J:12013 Russell LB, Definition of functional units in a small chromosomal segment of the mouse and its use in interpreting the nature of radiation-induced mutations. Mutat Res. 1971 Jan;11(1):107-23
    • Latest
      J:265607 Naba A, et al., Quantitative proteomic profiling of the extracellular matrix of pancreatic islets during the angiogenic switch and insulinoma progression. Sci Rep. 2017 Jan 10;7:40495

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory