SOSTDC1 sclerostin domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SOSTDC1provided by HGNC
Official Full Name: sclerostin domain containing 1provided by HGNC
Primary source: HGNC:HGNC:21748
See related: Ensembl:ENSG00000171243 MIM:609675; AllianceGenome:HGNC:21748
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DAND7; USAG1; CDA019; ECTODIN
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 BMPs, prohibiting them from binding their receptors, thereby regulating BMP signaling during cellular proliferation, differentiation, and programmed cell death. [provided by RefSeq, Jul 2008]
Expression: Biased expression in lung (RPKM 31.5), stomach (RPKM 24.1) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p21.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (16461481..16465738, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (16591217..16595471, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (16501106..16505363, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exosomal circ_0001190 Regulates the Progression of Gastric Cancer via miR-586/SOSTDC1 Axis.
Title: Exosomal circ_0001190 Regulates the Progression of Gastric Cancer via miR-586/SOSTDC1 Axis.
SOSTDC1 acts as a tumor inhibitor in acute myeloid leukemia by downregulating the Wnt/beta-catenin pathway.
Title: SOSTDC1 acts as a tumor inhibitor in acute myeloid leukemia by downregulating the Wnt/β-catenin pathway.
Impact of microRNA-21-5p on the growth of thyroid cancer cells via targeting the recombinant sclerostin domain containing protein 1.", trans "RNA-21-5p1.
Title: Impact of microRNA-21-5p on the growth of thyroid cancer cells via targeting the recombinant sclerostin domain containing protein 1.
Characterization of the different oligomeric states of the DAN family antagonists SOSTDC1 and SOST.
Title: Characterization of the different oligomeric states of the DAN family antagonists SOSTDC1 and SOST.
Downregulation of Sostdc1 in Testicular Sertoli Cells is Prerequisite for Onset of Robust Spermatogenesis at Puberty.
Title: Downregulation of Sostdc1 in Testicular Sertoli Cells is Prerequisite for Onset of Robust Spermatogenesis at Puberty.
Study revealed upregulation of ADAMTS8 and downregulation of FRAS1 and SOSTDC1 in primary fibroblasts from linear morphoea (LM) lesions. SOSTDC1 knock-down recapitulated the reduced TGF -beta1 responsiveness and LM fibroblast migration, while overexpression of ADAMTS 8 induced myofibroblast markers.
Title: Differential expression of secreted factors SOSTDC1 and ADAMTS8 cause profibrotic changes in linear morphoea fibroblasts.
As rat Sostdc1 and human SOSTDC1 are dual antagonists of the Wnt/beta-catenin and BMP signaling pathways, these results underscore the potential crucial roles of these pathways and their antagonists, such as Sostdc1 and SOSTDC1, in developing and adult mammalian normal eyes as well as in syndromic and nonsyndromic congenital eye diseases.
Title: Sostdc1 is expressed in all major compartments of developing and adult mammalian eyes.
Lack of association between SOSTDC1 gene polymorphisms and mesiodens
Title: Lack of association between PAX6/SOSTDC1/FAM20B gene polymorphisms and mesiodens.
The present study aimed to investigate SOSTDC1 coding regions in non-syndromic patients with one or more supernumerary teeth
Title: Investigation of SOSTDC1 gene in non-syndromic patients with supernumerary teeth.
SOSTDC1 may be a potential prognostic biomarker and therapeutic target for nonsmall cell lung cancer bone metastasis.
Title: SOSTDC1 inhibits bone metastasis in non-small cell lung cancer and may serve as a clinical therapeutic target.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association of lipid-lowering response to statins in combined study populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Sostdc1 (e-PCR), detects polymorphism
- UniSTS:471847

UniSTS:464692 (e-PCR)
- UniSTS:464692

Sostdc1 (e-PCR), detects polymorphism
- UniSTS:464692

SOSTDC1 (e-PCR)
- UniSTS:503610

A008L20 (e-PCR)
- UniSTS:36299

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables BMP binding	IBA Inferred from Biological aspect of Ancestor more info
enables BMP binding	IDA Inferred from Direct Assay more info	PubMed
enables BMP receptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in epithelial cell fate commitment	IEA Inferred from Electronic Annotation more info
involved_in hair follicle morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in mammary gland bud morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of Wnt signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cell fate commitment	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of determination of dorsal identity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of myoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
involved_in pattern specification process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: sclerostin domain-containing protein 1

Names: cystine-knot containing secreted protein; ectodermal BMP inhibitor; uterine sensitization-associated protein-1; wise

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.