Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Short stature homeobox protein 2

Gene

SHOX2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
DNA bindingi140 – 199HomeoboxPROSITE-ProRule annotationAdd BLAST60

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, 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
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000168779.19
HGNCiHGNC:10854 SHOX2
MIMi602504 gene
neXtProtiNX_O60902

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi6474
OpenTargetsiENSG00000168779
PharmGKBiPA35756

Polymorphism and mutation databases

BioMutaiSHOX2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000492921 – 331Short stature homeobox protein 2Add BLAST331

Proteomic databases

PaxDbiO60902
PeptideAtlasiO60902
PRIDEiO60902
ProteomicsDBi49660
49661 [O60902-2]
49662 [O60902-3]

PTM databases

iPTMnetiO60902
PhosphoSitePlusiO60902

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

BgeeiENSG00000168779 Expressed in 113 organ(s), highest expression level in buccal mucosa cell
CleanExiHS_SHOX2
ExpressionAtlasiO60902 baseline and differential
GenevisibleiO60902 HS

Interactioni

Protein-protein interaction databases

BioGridi112370, 5 interactors
IntActiO60902, 2 interactors
STRINGi9606.ENSP00000419362

Structurei

3D structure databases

ProteinModelPortaliO60902
SMRiO60902
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi313 – 326OARPROSITE-ProRule annotationAdd BLAST14

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi60 – 86Poly-GlyAdd BLAST27

Sequence similaritiesi

Keywords - Domaini

Homeobox

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00930000150828
HOGENOMiHOG000231518
HOVERGENiHBG007233
InParanoidiO60902
KOiK09331
OMAiPTGCAEP
OrthoDBiEOG091G0ICT
PhylomeDBiO60902
TreeFamiTF350757

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR000047 HTH_motif
IPR003654 OAR_dom
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF03826 OAR, 1 hit
PRINTSiPR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS50803 OAR, 1 hit

Sequences (3+)i

Sequence statusi: Complete.

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

This entry has 3 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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 17, 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

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A6NLG4A6NLG4_HUMAN
HCG1786841, isoform CRA_b
SHOX2 hCG_1786841
190Annotation score:
A0A087WVB7A0A087WVB7_HUMAN
Short stature homeobox protein 2
SHOX2
146Annotation score:

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti125E → D in CAA05341 (PubMed:9482898).Curated1
Sequence conflicti244S → P in CAA05341 (PubMed:9482898).Curated1
Sequence conflicti312N → D in CAA05341 (PubMed:9482898).Curated1
Sequence conflicti312N → D in CAA05342 (PubMed:9482898).Curated1
Sequence conflicti325H → L in AAC39663 (PubMed:9466998).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024427115E → EGRRKPTKAEVQATLLLPGE AFRFL in isoform 3. 1 Publication1
Alternative sequenceiVSP_002288235 – 246Missing in isoform 2. 2 PublicationsAdd BLAST12

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_006713728.3
XP_016862544.1, XM_017007055.1
UniGeneiHs.55967

Genome annotation databases

EnsembliENST00000389589; ENSP00000374240; ENSG00000168779 [O60902-3]
ENST00000441443; ENSP00000397099; ENSG00000168779 [O60902-1]
ENST00000483851; ENSP00000419362; ENSG00000168779 [O60902-2]
GeneIDi6474
KEGGihsa:6474
UCSCiuc003fbr.4 human [O60902-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

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_006713728.3
XP_016862544.1, XM_017007055.1
UniGeneiHs.55967

3D structure databases

ProteinModelPortaliO60902
SMRiO60902
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112370, 5 interactors
IntActiO60902, 2 interactors
STRINGi9606.ENSP00000419362

PTM databases

iPTMnetiO60902
PhosphoSitePlusiO60902

Polymorphism and mutation databases

BioMutaiSHOX2

Proteomic databases

PaxDbiO60902
PeptideAtlasiO60902
PRIDEiO60902
ProteomicsDBi49660
49661 [O60902-2]
49662 [O60902-3]

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.4 human [O60902-1]

Organism-specific databases

CTDi6474
DisGeNETi6474
EuPathDBiHostDB:ENSG00000168779.19
GeneCardsiSHOX2
HGNCiHGNC:10854 SHOX2
MIMi602504 gene
neXtProtiNX_O60902
OpenTargetsiENSG00000168779
PharmGKBiPA35756
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0490 Eukaryota
ENOG410YIJ3 LUCA
GeneTreeiENSGT00930000150828
HOGENOMiHOG000231518
HOVERGENiHBG007233
InParanoidiO60902
KOiK09331
OMAiPTGCAEP
OrthoDBiEOG091G0ICT
PhylomeDBiO60902
TreeFamiTF350757

Miscellaneous databases

GeneWikiiSHOX2
GenomeRNAii6474
PROiPR:O60902
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168779 Expressed in 113 organ(s), highest expression level in buccal mucosa cell
CleanExiHS_SHOX2
ExpressionAtlasiO60902 baseline and differential
GenevisibleiO60902 HS

Family and domain databases

CDDicd00086 homeodomain, 1 hit
InterProiView protein in InterPro
IPR009057 Homeobox-like_sf
IPR017970 Homeobox_CS
IPR001356 Homeobox_dom
IPR000047 HTH_motif
IPR003654 OAR_dom
PfamiView protein in Pfam
PF00046 Homeobox, 1 hit
PF03826 OAR, 1 hit
PRINTSiPR00031 HTHREPRESSR
SMARTiView protein in SMART
SM00389 HOX, 1 hit
SUPFAMiSSF46689 SSF46689, 1 hit
PROSITEiView protein in PROSITE
PS00027 HOMEOBOX_1, 1 hit
PS50071 HOMEOBOX_2, 1 hit
PS50803 OAR, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSHOX2_HUMAN
AccessioniPrimary (citable) accession number: O60902
Secondary accession number(s): O60465, O60467, O60903
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 26, 2001
Last sequence update: April 17, 2007
Last modified: November 7, 2018
This is version 169 of the entry and version 4 of the sequence. See 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. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again