Shox2 SHOX homeobox 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Shox2provided by MGI
Official Full Name: SHOX homeobox 2provided by MGI
Primary source: MGI:MGI:1201673
See related: Ensembl:ENSMUSG00000027833 AllianceGenome:MGI:1201673
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
Summary: Enables sequence-specific DNA binding activity. Involved in several processes, including heart development; positive regulation of cell development; and regulation of branching morphogenesis of a nerve. Acts upstream of or within several processes, including heart development; positive regulation of cell population proliferation; and skeletal system development. Predicted to be active in nucleus. Is expressed in several structures, including branchial arch; central nervous system; facial prominence; genitourinary system; and limb mesenchyme. Used to study Leri-Weill dyschondrosteosis. Human ortholog(s) of this gene implicated in lung cancer. Orthologous to human SHOX2 (SHOX homeobox 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in limb E14.5 (RPKM 10.1), CNS E11.5 (RPKM 7.6) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 E1; 3 30.76 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (66879056..66889104, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (66971723..66981771, complement)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A gene desert required for regulatory control of pleiotropic Shox2 expression and embryonic survival.
Title: A gene desert required for regulatory control of pleiotropic Shox2 expression and embryonic survival.
The Transcription Factor Shox2 Shapes Neuron Firing Properties and Suppresses Seizures by Regulation of Key Ion Channels in Thalamocortical Neurons.
Title: The Transcription Factor Shox2 Shapes Neuron Firing Properties and Suppresses Seizures by Regulation of Key Ion Channels in Thalamocortical Neurons.
Network-driven discovery yields new insight into Shox2-dependent cardiac rhythm control.
Title: Network-driven discovery yields new insight into Shox2-dependent cardiac rhythm control.
Conjugated activation of myocardial-specific transcription of Gja5 by a pair of Nkx2-5-Shox2 co-responsive elements.
Title: Conjugated activation of myocardial-specific transcription of Gja5 by a pair of Nkx2-5-Shox2 co-responsive elements.
Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice.
Title: Precocious chondrocyte differentiation disrupts skeletal growth in Kabuki syndrome mice.
Data suggest that short stature homeobox 2 (Shox2) controls osteogenesis of a cell lineage and contributes to the palatine process of the maxilla by regulate skeletogenic gene expression and to pattern the hard palate.
Title: Shox2 regulates osteogenic differentiation and pattern formation during hard palate development in mice.
gap junctional coupling promotes synchronization of Shox2 interneurons, and may be implicated in locomotor rhythmicity in developing mice.
Title: Spinal Shox2 interneuron interconnectivity related to function and development.
Shox2(+/+) and Shox2(-/-) embryonic stem cell clones were isolated and differentiated according to five different protocols in order to evaluate the most efficient enrichment of sinoatrial node-like cells. .
Title: Comparative expression analysis of Shox2-deficient embryonic stem cell-derived sinoatrial node-like cells.
Shox2 patterns the stylopod as a repressor via interaction with enhancers active in the proximal limb mesenchyme and antagonizes the repressive function of TALE factors in osteogenesis.
Title: A unique stylopod patterning mechanism by Shox2-controlled osteogenesis.
This study shows that expressing human SHOX in Shox2SHOX KI/KI mice leads to congenital osteoarthritislike disease of the temporomandibular joint in postnatal mice. This provides a novel in vivo model for studying the molecular and cellular mechanisms of temporomandibular joint osteoarthritis.
Title: Expressing human SHOX in Shox2SHOX KI/KI mice leads to congenital osteoarthritis‑like disease of the temporomandibular joint in postnatal mice.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation
Targeted (10) 1 citation

General gene information

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Markers

Shox2 (e-PCR), detects polymorphism
- UniSTS:144402

Pitx3 (e-PCR), detects polymorphism
- UniSTS:144186

NoName (e-PCR)
- UniSTS:494986

NoName (e-PCR)
- UniSTS:488331

SGC44267 (e-PCR)
- UniSTS:41936

Shox2 (e-PCR), detects polymorphism
- UniSTS:498407

Shox2 (e-PCR), detects polymorphism
- UniSTS:498408

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IC Inferred by Curator more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cardiac atrium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac pacemaker cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cardiac right atrium morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cartilage development involved in endochondral bone morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chondrocyte development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chondrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic digestive tract morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic forelimb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic limb morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within embryonic skeletal joint morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart valve development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of mesenchymal cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle tissue morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within osteoblast differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of mesenchymal cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of skeletal muscle fiber development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of branching morphogenesis of a nerve	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of chondrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of regulation of heart rate	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in sinoatrial node cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sinoatrial node development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sinoatrial valve development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of smoothened signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of stem cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: short stature homeobox protein 2

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

NCBI Reference Sequences (RefSeq)

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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)

NM_001302357.1 → NP_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:143 → 197

Homeobox; Homeobox domain

pfam03826
Location:299 → 315

OAR; OAR domain
NM_001302358.1 → NP_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/TrEMBL

A0A140T8S9, Q3UM84

Conserved Domains (2) summary

pfam00046
Location:14 → 68

Homeobox; Homeobox domain

pfam03826
Location:170 → 186

OAR; OAR domain
NM_001302359.1 → NP_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/TrEMBL

A0A140T8S9, Q3UM84

Related

ENSMUSP00000124924.4, ENSMUST00000162439.8

Conserved Domains (2) summary

pfam00046
Location:14 → 68

Homeobox; Homeobox domain

pfam03826
Location:170 → 186

OAR; OAR domain
NM_013665.1 → NP_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

P70369, P70390

Related

ENSMUSP00000029422.8, ENSMUST00000029422.14

Conserved Domains (2) summary

pfam00046
Location:143 → 197

Homeobox; Homeobox domain

pfam03826
Location:311 → 327

OAR; OAR domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

66879056..66889104 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006501215.5 → XP_006501278.1 short stature homeobox protein 2 isoform X1

See identical proteins and their annotated locations for XP_006501278.1

UniProtKB/TrEMBL

Q3UM84

Conserved Domains (2) summary

pfam00046
Location:14 → 68

Homeobox; Homeobox domain

pfam03826
Location:182 → 198

OAR; OAR domain
XM_006501216.3 → XP_006501279.1 short stature homeobox protein 2 isoform X1

See identical proteins and their annotated locations for XP_006501279.1

UniProtKB/TrEMBL

Q3UM84

Conserved Domains (2) summary

pfam00046
Location:14 → 68

Homeobox; Homeobox domain

pfam03826
Location:182 → 198

OAR; OAR domain
XM_030252507.2 → XP_030108367.1 short stature homeobox protein 2 isoform X2

UniProtKB/TrEMBL

A0A140T8S9, Q3UM84

Conserved Domains (2) summary

pfam00046
Location:14 → 68

Homeobox; Homeobox domain

pfam03826
Location:170 → 186

OAR; OAR domain
XM_030252508.1 → XP_030108368.1 short stature homeobox protein 2 isoform X2

UniProtKB/TrEMBL

A0A140T8S9, Q3UM84

Conserved Domains (2) summary

pfam00046
Location:14 → 68

Homeobox; Homeobox domain

pfam03826
Location:170 → 186

OAR; OAR domain
XM_006501217.4 → XP_006501280.1 short stature homeobox protein 2 isoform X1

See identical proteins and their annotated locations for XP_006501280.1

UniProtKB/TrEMBL

Q3UM84

Conserved Domains (2) summary

pfam00046
Location:14 → 68

Homeobox; Homeobox domain

pfam03826
Location:182 → 198

OAR; OAR domain