Gene Gene information from NCBI Gene database.
Entrez ID 6474
Gene name SHOX homeobox 2
Gene symbol SHOX2
Synonyms (NCBI Gene)
OG12OG12XSHOT
Chromosome 3
Chromosome location 3q25.32
Summary This gene is a member of the homeobox family of genes that encode proteins containing a 60-amino acid residue motif that represents a DNA binding domain. Homeobox genes have been characterized extensively as transcriptional regulators involved in pattern
miRNA miRNA information provided by mirtarbase database.
221
miRTarBase ID miRNA Experiments Reference
MIRT508456 hsa-miR-8076 HITS-CLIP 21572407
MIRT508455 hsa-miR-183-5p HITS-CLIP 21572407
MIRT508454 hsa-miR-4470 HITS-CLIP 21572407
MIRT508457 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT508456 hsa-miR-8076 HITS-CLIP 21572407
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ARX Unknown 23771350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
50
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602504 10854 ENSG00000168779
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60902
Protein name Short stature homeobox protein 2 (Homeobox protein Og12X) (Paired-related homeobox protein SHOT)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00046 Homeodomain 141 197 Homeodomain Domain
PF03826 OAR 310 327 OAR motif Motif
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, skeletal muscle, liver, lung, bone marrow fibroblast, pancreas and placenta.
Sequence
MEELTAFVSKSFDQKVKEKKEAITYREVLESGPLRGAKEPTGCTEAGRDDRSSPAVRAAG
GGGGGGGGGGGGGGGGGVGGGGAGGGAGGGRSPVRELDMGAAERSREPGSPRLTEVSPEL
KDRKEDAKGMEDEGQTKIKQRRSRTNFTLEQLNELERLFDETHYPDAFMREELSQRLGLS
EARVQVWFQNRRAKCRK
QENQLHKGVLIGAASQFEACRVAPYVNVGALRMPFQQDSHCNV
TPLSFQVQAQLQLDSAVAHAHHHLHPHLAAHAPYMMFPAPPFGLPLATLAADSASAASVV
AAAAAAKTTSKNSSIADLRLKAKKHAAALGL
Sequence length 331
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 25331797, 28977861
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 32647207 Associate
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 27138930, 30443179
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial fibrillation Pubtator 30443179, 32976766, 34845933, 37028180 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Biliary Tract Neoplasms Biliary tract neoplasms Pubtator 27999621 Associate
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Brain neoplasms Pubtator 32361006 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 26124144
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 24746361, 35414113 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 37170390 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 39991677 Associate
★☆☆☆☆
Found in Text Mining only