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Protein

Short stature homeobox protein 2

Gene

SHOX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at transcript leveli

Functioni

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.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
DNA bindingi140 – 19960HomeoboxPROSITE-ProRule annotationAdd
BLAST

GO - Molecular functioni

  1. sequence-specific DNA binding Source: InterPro

GO - Biological processi

  1. cardiac atrium morphogenesis Source: Ensembl
  2. cartilage development involved in endochondral bone morphogenesis Source: Ensembl
  3. chondrocyte development Source: Ensembl
  4. embryonic digestive tract morphogenesis Source: Ensembl
  5. embryonic forelimb morphogenesis Source: Ensembl
  6. embryonic skeletal joint morphogenesis Source: Ensembl
  7. heart development Source: ProtInc
  8. heart valve development Source: Ensembl
  9. muscle tissue morphogenesis Source: Ensembl
  10. negative regulation of transcription from RNA polymerase II promoter Source: Ensembl
  11. nervous system development Source: ProtInc
  12. osteoblast differentiation Source: Ensembl
  13. positive regulation of axonogenesis Source: Ensembl
  14. positive regulation of mesenchymal cell proliferation Source: Ensembl
  15. positive regulation of skeletal muscle fiber development Source: Ensembl
  16. positive regulation of smoothened signaling pathway Source: Ensembl
  17. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
  18. regulation of branching morphogenesis of a nerve Source: Ensembl
  19. regulation of chondrocyte differentiation Source: Ensembl
  20. skeletal system development Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Short stature homeobox protein 2
Alternative name(s):
Homeobox protein Og12X
Paired-related homeobox protein SHOT
Gene namesi
Name:SHOX2
Synonyms:OG12X, SHOT
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 3

Organism-specific databases

HGNCiHGNC:10854. SHOX2.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrion Source: HPA
  2. nuclear membrane Source: HPA
  3. nucleoplasm Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA35756.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 331331Short stature homeobox protein 2PRO_0000049292Add
BLAST

Proteomic databases

PaxDbiO60902.
PRIDEiO60902.

PTM databases

PhosphoSiteiO60902.

Expressioni

Tissue specificityi

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

Developmental stagei

Expressed during cranofacial development as well as in heart.

Gene expression databases

BgeeiO60902.
CleanExiHS_SHOX2.
ExpressionAtlasiO60902. baseline and differential.
GenevestigatoriO60902.

Interactioni

Protein-protein interaction databases

BioGridi112370. 5 interactions.
IntActiO60902. 2 interactions.
STRINGi9606.ENSP00000374240.

Structurei

3D structure databases

ProteinModelPortaliO60902.
SMRiO60902. Positions 140-198.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi313 – 32614OARAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi60 – 8627Poly-GlyAdd
BLAST

Sequence similaritiesi

Contains 1 homeobox DNA-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiNOG113578.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG007233.
InParanoidiO60902.
KOiK09331.
OMAiEPTGCAE.
OrthoDBiEOG7J1817.
PhylomeDBiO60902.
TreeFamiTF350757.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
PRINTSiPR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: O60902-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MEELTAFVSK SFDQKVKEKK EAITYREVLE SGPLRGAKEP TGCTEAGRDD
60 70 80 90 100
RSSPAVRAAG GGGGGGGGGG GGGGGGGVGG GGAGGGAGGG RSPVRELDMG
110 120 130 140 150
AAERSREPGS PRLTEVSPEL KDRKEDAKGM EDEGQTKIKQ RRSRTNFTLE
160 170 180 190 200
QLNELERLFD ETHYPDAFMR EELSQRLGLS EARVQVWFQN RRAKCRKQEN
210 220 230 240 250
QLHKGVLIGA ASQFEACRVA PYVNVGALRM PFQQDSHCNV TPLSFQVQAQ
260 270 280 290 300
LQLDSAVAHA HHHLHPHLAA HAPYMMFPAP PFGLPLATLA ADSASAASVV
310 320 330
AAAAAAKTTS KNSSIADLRL KAKKHAAALG L

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Length:331
Mass (Da):34,953
Last modified:April 16, 2007 - v4
Checksum:i06402B3955682252
GO
Isoform 2 (identifier: O60902-2) [UniParc]FASTAAdd to basket

Also known as: SHOX2B, SHOTB, OG12XB

The sequence of this isoform differs from the canonical sequence as follows:
     235-246: Missing.

Show »
Length:319
Mass (Da):33,624
Checksum:i18468ADF4A881FF0
GO
Isoform 3 (identifier: O60902-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     115-115: E → EGRRKPTKAEVQATLLLPGEAFRFL

Note: No experimental confirmation available.

Show »
Length:355
Mass (Da):37,634
Checksum:i8E1351C4EEA2C449
GO

Sequence cautioni

The sequence AAC39662.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAA05341.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence CAA05342.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti125 – 1251E → D in CAA05341 (PubMed:9482898).Curated
Sequence conflicti244 – 2441S → P in CAA05341 (PubMed:9482898).Curated
Sequence conflicti312 – 3121N → D in CAA05341 (PubMed:9482898).Curated
Sequence conflicti312 – 3121N → D in CAA05342 (PubMed:9482898).Curated
Sequence conflicti325 – 3251H → L in AAC39663 (PubMed:9466998).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei115 – 1151E → EGRRKPTKAEVQATLLLPGE AFRFL in isoform 3. 1 PublicationVSP_024427
Alternative sequencei235 – 24612Missing in isoform 2. 2 PublicationsVSP_002288Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS33884.2. [O60902-3]
CCDS43164.1. [O60902-1]
CCDS54664.1. [O60902-2]
RefSeqiNP_001157150.1. NM_001163678.1. [O60902-2]
NP_003021.3. NM_003030.4. [O60902-3]
NP_006875.2. NM_006884.3. [O60902-1]
XP_006713791.1. XM_006713728.1.
XP_006713792.1. XM_006713729.1.
UniGeneiHs.55967.

Genome annotation databases

EnsembliENST00000389589; ENSP00000374240; ENSG00000168779. [O60902-3]
ENST00000441443; ENSP00000397099; ENSG00000168779. [O60902-1]
ENST00000483851; ENSP00000419362; ENSG00000168779. [O60902-2]
GeneIDi6474.
KEGGihsa:6474.
UCSCiuc003fbr.3. human. [O60902-1]
uc003fbs.3. human. [O60902-3]
uc010hvw.3. human. [O60902-2]

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS33884.2. [O60902-3]
CCDS43164.1. [O60902-1]
CCDS54664.1. [O60902-2]
RefSeqiNP_001157150.1. NM_001163678.1. [O60902-2]
NP_003021.3. NM_003030.4. [O60902-3]
NP_006875.2. NM_006884.3. [O60902-1]
XP_006713791.1. XM_006713728.1.
XP_006713792.1. XM_006713729.1.
UniGeneiHs.55967.

3D structure databases

ProteinModelPortaliO60902.
SMRiO60902. Positions 140-198.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112370. 5 interactions.
IntActiO60902. 2 interactions.
STRINGi9606.ENSP00000374240.

PTM databases

PhosphoSiteiO60902.

Proteomic databases

PaxDbiO60902.
PRIDEiO60902.

Protocols and materials databases

DNASUi6474.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000389589; ENSP00000374240; ENSG00000168779. [O60902-3]
ENST00000441443; ENSP00000397099; ENSG00000168779. [O60902-1]
ENST00000483851; ENSP00000419362; ENSG00000168779. [O60902-2]
GeneIDi6474.
KEGGihsa:6474.
UCSCiuc003fbr.3. human. [O60902-1]
uc003fbs.3. human. [O60902-3]
uc010hvw.3. human. [O60902-2]

Organism-specific databases

CTDi6474.
GeneCardsiGC03M157813.
HGNCiHGNC:10854. SHOX2.
MIMi602504. gene.
neXtProtiNX_O60902.
PharmGKBiPA35756.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG113578.
GeneTreeiENSGT00760000118958.
HOGENOMiHOG000231518.
HOVERGENiHBG007233.
InParanoidiO60902.
KOiK09331.
OMAiEPTGCAE.
OrthoDBiEOG7J1817.
PhylomeDBiO60902.
TreeFamiTF350757.

Miscellaneous databases

GeneWikiiSHOX2.
GenomeRNAii6474.
NextBioi25151.
PROiO60902.
SOURCEiSearch...

Gene expression databases

BgeeiO60902.
CleanExiHS_SHOX2.
ExpressionAtlasiO60902. baseline and differential.
GenevestigatoriO60902.

Family and domain databases

Gene3Di1.10.10.60. 1 hit.
InterProiIPR017970. Homeobox_CS.
IPR001356. Homeobox_dom.
IPR009057. Homeodomain-like.
IPR000047. HTH_motif.
IPR003654. OAR_dom.
[Graphical view]
PfamiPF00046. Homeobox. 1 hit.
PF03826. OAR. 1 hit.
[Graphical view]
PRINTSiPR00031. HTHREPRESSR.
SMARTiSM00389. HOX. 1 hit.
[Graphical view]
SUPFAMiSSF46689. SSF46689. 1 hit.
PROSITEiPS00027. HOMEOBOX_1. 1 hit.
PS50071. HOMEOBOX_2. 1 hit.
PS50803. OAR. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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(1997) [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(2003) [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(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 116-331 (ISOFORM 2).
    Tissue: Craniofacial.
  4. Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).

Entry informationi

Entry nameiSHOX2_HUMAN
AccessioniPrimary (citable) accession number: O60902
Secondary accession number(s): O60465, O60467, O60903
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 25, 2001
Last sequence update: April 16, 2007
Last modified: March 3, 2015
This is version 143 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.