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O60902 (SHOX2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 135. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Short stature homeobox protein 2
Alternative name(s):
Homeobox protein Og12X
Paired-related homeobox protein SHOT
Gene names
Name:SHOX2
Synonyms:OG12X, SHOT
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length331 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

May be a growth regulator and have a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation.

Subcellular location

Nucleus.

Tissue specificity

Expressed in heart, skeletal muscle, liver, lung, bone marrow fibroblast, pancreas and placenta.

Developmental stage

Expressed during cranofacial development as well as in heart.

Sequence similarities

Belongs to the paired homeobox family. Bicoid subfamily.

Contains 1 homeobox DNA-binding domain.

Sequence caution

The sequence AAC39662.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAA05341.1 differs from that shown. Reason: Erroneous initiation.

The sequence CAA05342.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
   DomainHomeobox
   LigandDNA-binding
   Molecular functionDevelopmental protein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processcardiac atrium morphogenesis

Inferred from electronic annotation. Source: Ensembl

cartilage development involved in endochondral bone morphogenesis

Inferred from electronic annotation. Source: Ensembl

chondrocyte development

Inferred from electronic annotation. Source: Ensembl

embryonic digestive tract morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic forelimb morphogenesis

Inferred from electronic annotation. Source: Ensembl

embryonic skeletal joint morphogenesis

Inferred from electronic annotation. Source: Ensembl

heart development

Traceable author statement Ref.1. Source: ProtInc

heart valve development

Inferred from electronic annotation. Source: Ensembl

muscle tissue morphogenesis

Inferred from electronic annotation. Source: Ensembl

negative regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

nervous system development

Traceable author statement Ref.1. Source: ProtInc

osteoblast differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of axonogenesis

Inferred from electronic annotation. Source: Ensembl

positive regulation of mesenchymal cell proliferation

Inferred from electronic annotation. Source: Ensembl

positive regulation of skeletal muscle fiber development

Inferred from electronic annotation. Source: Ensembl

positive regulation of smoothened signaling pathway

Inferred from electronic annotation. Source: Ensembl

positive regulation of transcription from RNA polymerase II promoter

Inferred from electronic annotation. Source: Ensembl

regulation of branching morphogenesis of a nerve

Inferred from electronic annotation. Source: Ensembl

regulation of chondrocyte differentiation

Inferred from electronic annotation. Source: Ensembl

skeletal system development

Traceable author statement Ref.1. Source: ProtInc

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionsequence-specific DNA binding transcription factor activity

Inferred from electronic annotation. Source: InterPro

transcription regulatory region sequence-specific DNA binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O60902-1)

Also known as: SHOX2A; SHOTA;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Isoform 2 (identifier: O60902-2)

Also known as: SHOX2B; SHOTB; OG12XB;

The sequence of this isoform differs from the canonical sequence as follows:
     235-246: Missing.
Isoform 3 (identifier: O60902-3)

The sequence of this isoform differs from the canonical sequence as follows:
     115-115: E → EGRRKPTKAEVQATLLLPGEAFRFL
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 331331Short stature homeobox protein 2
PRO_0000049292

Regions

DNA binding140 – 19960Homeobox
Motif313 – 32614OAR
Compositional bias60 – 8627Poly-Gly

Natural variations

Alternative sequence1151E → EGRRKPTKAEVQATLLLPGE AFRFL in isoform 3.
VSP_024427
Alternative sequence235 – 24612Missing in isoform 2.
VSP_002288

Experimental info

Sequence conflict1251E → D in CAA05341. Ref.1
Sequence conflict2441S → P in CAA05341. Ref.1
Sequence conflict3121N → D in CAA05341. Ref.1
Sequence conflict3121N → D in CAA05342. Ref.1
Sequence conflict3251H → L in AAC39663. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (SHOX2A) (SHOTA) [UniParc].

Last modified April 17, 2007. Version 4.
Checksum: 06402B3955682252

FASTA33134,953
        10         20         30         40         50         60 
MEELTAFVSK SFDQKVKEKK EAITYREVLE SGPLRGAKEP TGCTEAGRDD RSSPAVRAAG 

        70         80         90        100        110        120 
GGGGGGGGGG GGGGGGGVGG GGAGGGAGGG RSPVRELDMG AAERSREPGS PRLTEVSPEL 

       130        140        150        160        170        180 
KDRKEDAKGM EDEGQTKIKQ RRSRTNFTLE QLNELERLFD ETHYPDAFMR EELSQRLGLS 

       190        200        210        220        230        240 
EARVQVWFQN RRAKCRKQEN QLHKGVLIGA ASQFEACRVA PYVNVGALRM PFQQDSHCNV 

       250        260        270        280        290        300 
TPLSFQVQAQ LQLDSAVAHA HHHLHPHLAA HAPYMMFPAP PFGLPLATLA ADSASAASVV 

       310        320        330 
AAAAAAKTTS KNSSIADLRL KAKKHAAALG L 

« Hide

Isoform 2 (SHOX2B) (SHOTB) (OG12XB) [UniParc].

Checksum: 18468ADF4A881FF0
Show »

FASTA31933,624
Isoform 3 [UniParc].

Checksum: 8E1351C4EEA2C449
Show »

FASTA35537,634

References

« Hide 'large scale' references
[1]"SHOT, a SHOX-related homeobox gene, is implicated in craniofacial, brain, heart, and limb development."
Blaschke R.J., Monaghan A.P., Schiller S., Schechinger B., Rao E., Padilla-Nash H., Ried T., Rappold G.A.
Proc. Natl. Acad. Sci. U.S.A. 95:2406-2411(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
Tissue: Fibroblast.
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Muscle.
[3]"A new human homeobox gene OG12X is a member of the most conserved homeobox gene family and is expressed during heart development in mouse."
Semina E.V., Reiter R.S., Murray J.C.
Hum. Mol. Genet. 7:415-422(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 116-331 (ISOFORM 2).
Tissue: Craniofacial.
[4]"An unappreciated role for RNA surveillance."
Hillman R.T., Green R.E., Brenner S.E.
Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AJ002367 mRNA. Translation: CAA05341.1. Different initiation.
AJ002368 mRNA. Translation: CAA05342.1. Different initiation.
BC008829 mRNA. Translation: AAH08829.1.
AF022654 mRNA. Translation: AAC39662.1. Different initiation.
AF023203 mRNA. Translation: AAC39663.1.
RefSeqNP_001157150.1. NM_001163678.1.
NP_003021.3. NM_003030.4.
NP_006875.2. NM_006884.3.
UniGeneHs.55967.

3D structure databases

ProteinModelPortalO60902.
SMRO60902. Positions 140-198.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid112370. 4 interactions.
IntActO60902. 1 interaction.
STRING9606.ENSP00000374240.

PTM databases

PhosphoSiteO60902.

Proteomic databases

PaxDbO60902.
PRIDEO60902.

Protocols and materials databases

DNASU6474.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000389589; ENSP00000374240; ENSG00000168779. [O60902-3]
ENST00000425436; ENSP00000398704; ENSG00000168779. [O60902-1]
ENST00000483851; ENSP00000419362; ENSG00000168779. [O60902-2]
GeneID6474.
KEGGhsa:6474.
UCSCuc003fbr.3. human. [O60902-1]
uc003fbs.3. human. [O60902-3]
uc010hvw.3. human. [O60902-2]

Organism-specific databases

CTD6474.
GeneCardsGC03M157813.
HGNCHGNC:10854. SHOX2.
MIM602504. gene.
neXtProtNX_O60902.
PharmGKBPA35756.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG113578.
HOGENOMHOG000231518.
HOVERGENHBG007233.
InParanoidO60902.
KOK09331.
OMAEPTGCAE.
OrthoDBEOG7J1817.
PhylomeDBO60902.
TreeFamTF350757.

Gene expression databases

ArrayExpressO60902.
BgeeO60902.
CleanExHS_SHOX2.
GenevestigatorO60902.

Family and domain databases

Gene3D1.10.10.60. 1 hit.
InterProIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
IPR003654. OAR_dom.
[Graphical view]
PfamPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
PRINTSPR00031. HTHREPRESSR.
SMARTSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMSSF46689. SSF46689. 1 hit.
PROSITEPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiSHOX2.
GenomeRNAi6474.
NextBio25151.
PROO60902.
SOURCESearch...

Entry information

Entry nameSHOX2_HUMAN
AccessionPrimary (citable) accession number: O60902
Secondary accession number(s): O60465, O60467, O60903
Entry history
Integrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: April 17, 2007
Last modified: April 16, 2014
This is version 135 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM