Gene Gene information from NCBI Gene database.
Entrez ID 25928
Gene name Sclerostin domain containing 1
Gene symbol SOSTDC1
Synonyms (NCBI Gene)
CDA019DAND7ECTODINUSAG1
Chromosome 7
Chromosome location 7p21.2
Summary This gene is a member of the sclerostin family and encodes an N-glycosylated, secreted protein with a C-terminal cystine knot-like domain. This protein functions as a bone morphogenetic protein (BMP) antagonist. Specifically, it directly associates with B
miRNA miRNA information provided by mirtarbase database.
12
miRTarBase ID miRNA Experiments Reference
MIRT018039 hsa-miR-335-5p Microarray 18185580
MIRT1380107 hsa-miR-4496 CLIP-seq
MIRT1380108 hsa-miR-4719 CLIP-seq
MIRT2113651 hsa-miR-1207-5p CLIP-seq
MIRT2113652 hsa-miR-1305 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
GO:0005615 Component Extracellular space IDA 15020244
GO:0005615 Component Extracellular space IEA
GO:0007389 Process Pattern specification process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609675 21748 ENSG00000171243
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6X4U4
Protein name Sclerostin domain-containing protein 1 (Ectodermal BMP inhibitor) (Ectodin) (Uterine sensitization-associated gene 1 protein) (USAG-1)
Protein function May be involved in the onset of endometrial receptivity for implantation/sensitization for the decidual cell reaction Enhances Wnt signaling and inhibits TGF-beta signaling (By similarity). Directly antagonizes activity of BMP2, BMP4, BMP6 and B
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05463 Sclerostin 6 206 Sclerostin (SOST) Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in kidney and weakly in lung. {ECO:0000269|PubMed:15020244}.
Sequence
Sequence length 206
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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
SCHIZOPHRENIA 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
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 29063426
★☆☆☆☆
Found in Text Mining only
Alport Syndrome Alport Syndrome BEFREE 20197625
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 29554616
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 29554616
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 29063426
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 36267464 Associate
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 28207073
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease BEFREE 30835038
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 21113658, 25338303
★☆☆☆☆
Found in Text Mining only
Breast Diseases Breast disease Pubtator 34997107 Associate
★☆☆☆☆
Found in Text Mining only