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Shox2 short stature homeobox 2 [ Mus musculus (house mouse) ]

Gene ID: 20429, updated on 8-Dec-2018

Summary

Official Symbol
Shox2provided by MGI
Official Full Name
short stature homeobox 2provided by MGI
Primary source
MGI:MGI:1201673
See related
Ensembl:ENSMUSG00000027833
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
OG12; Prx3; SHOT; Og12x; 6330543G17Rik
Expression
Biased expression in limb E14.5 (RPKM 10.1), CNS E11.5 (RPKM 7.6) and 5 other tissues See more
Orthologs

Genomic context

See Shox2 in Genome Data Viewer
Location:
3 E1; 3 30.76 cM
Exon count:
8
Annotation release Status Assembly Chr Location
106 current GRCm38.p4 (GCF_000001635.24) 3 NC_000069.6 (66971723..66981771, complement)
Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 3 NC_000069.5 (66777188..66785693, complement)

Chromosome 3 - NC_000069.6Genomic Context describing neighboring genes Neighboring gene predicted gene, 17952 Neighboring gene aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 pseudogene Neighboring gene arginine/serine-rich coiled-coil 1 Neighboring gene myeloid leukemia factor 1 Neighboring gene G elongation factor, mitochondrial 1 Neighboring gene latexin

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (10)  1 citation
  • Endonuclease-mediated (1) 

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
cardiac atrium morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
cartilage development involved in endochondral bone morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
chondrocyte development IMP
Inferred from Mutant Phenotype
more info
PubMed 
chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic digestive tract morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic forelimb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic limb morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic skeletal joint morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart valve development IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
muscle tissue morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
osteoblast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of axonogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of mesenchymal cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of skeletal muscle fiber development IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of smoothened signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of branching morphogenesis of a nerve IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription, DNA-templated IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
short stature homeobox protein 2
Names
OG-12
homeobox protein Og12X
paired family homeodomain protein Prx3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001302357.1NP_001289286.1  short stature homeobox protein 2 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' terminal exon, compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AC122870, AK032007, BB363478
    UniProtKB/Swiss-Prot
    P70390
    Conserved Domains (2) summary
    pfam00046
    Location:143196
    Homeobox; Homeobox domain
    pfam03826
    Location:299315
    OAR; OAR domain
  2. NM_001302358.1NP_001289287.1  short stature homeobox protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001289287.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses a downstream alternate 5'-terminal exon and uses an alternate in-frame splice site in the 3' terminal exon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1. Both variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    AA509933, AC122870, AK032007, BB363478
    Consensus CDS
    CCDS79922.1
    UniProtKB/Swiss-Prot
    P70390
    UniProtKB/TrEMBL
    A0A140T8S9
    Conserved Domains (2) summary
    pfam00046
    Location:1467
    Homeobox; Homeobox domain
    pfam03826
    Location:170186
    OAR; OAR domain
  3. NM_001302359.1NP_001289288.1  short stature homeobox protein 2 isoform 3

    See identical proteins and their annotated locations for NP_001289288.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses a downstream alternate 5'-terminal exon and uses an alternate in-frame splice site in the 3' terminal exon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1. Both variants 3 and 4 encode the same isoform (3).
    Source sequence(s)
    AC122870, AK032007
    Consensus CDS
    CCDS79922.1
    UniProtKB/Swiss-Prot
    P70390
    UniProtKB/TrEMBL
    A0A140T8S9
    Related
    ENSMUSP00000124924.3, ENSMUST00000162439.7
    Conserved Domains (2) summary
    pfam00046
    Location:1467
    Homeobox; Homeobox domain
    pfam03826
    Location:170186
    OAR; OAR domain
  4. NM_013665.1NP_038693.1  short stature homeobox protein 2 isoform 1

    See identical proteins and their annotated locations for NP_038693.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    U66918
    Consensus CDS
    CCDS17393.1
    UniProtKB/Swiss-Prot
    P70390
    Related
    ENSMUSP00000029422.7, ENSMUST00000029422.13
    Conserved Domains (2) summary
    pfam00046
    Location:143196
    Homeobox; Homeobox domain
    pfam03826
    Location:311327
    OAR; OAR domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p4 C57BL/6J

Genomic

  1. NC_000069.6 Reference GRCm38.p4 C57BL/6J

    Range
    66971723..66981771 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006501215.3XP_006501278.1  short stature homeobox protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006501278.1

    Conserved Domains (2) summary
    pfam00046
    Location:1467
    Homeobox; Homeobox domain
    pfam03826
    Location:182198
    OAR; OAR domain
  2. XM_006501216.1XP_006501279.1  short stature homeobox protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006501279.1

    Conserved Domains (2) summary
    pfam00046
    Location:1467
    Homeobox; Homeobox domain
    pfam03826
    Location:182198
    OAR; OAR domain
  3. XM_006501217.3XP_006501280.1  short stature homeobox protein 2 isoform X1

    See identical proteins and their annotated locations for XP_006501280.1

    Conserved Domains (2) summary
    pfam00046
    Location:1467
    Homeobox; Homeobox domain
    pfam03826
    Location:182198
    OAR; OAR domain
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