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, different... See more...

Aliases for SOSTDC1 Gene

Aliases for SOSTDC1 Gene

  • Sclerostin Domain Containing 1 2 3 5
  • USAG1 2 3 4
  • Sclerostin Domain-Containing Protein 1 3 4
  • Ectodermal BMP Inhibitor 3 4
  • Ectodin 2 4
  • DAND7 2 3
  • Wise 2 3
  • Uterine Sensitization-Associated Gene 1 Protein 4
  • Uterine Sensitization-Associated Protein-1 3
  • Cystine-Knot Containing Secreted Protein 3
  • DKFZp564D206 2
  • ECTODIN 3
  • SOSTDC1 5
  • CDA019 3
  • USAG-1 4

External Ids for SOSTDC1 Gene

Previous GeneCards Identifiers for SOSTDC1 Gene

  • GC07M016211
  • GC07M016245
  • GC07M016274

Summaries for SOSTDC1 Gene

Entrez Gene Summary for SOSTDC1 Gene

  • 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]

GeneCards Summary for SOSTDC1 Gene

SOSTDC1 (Sclerostin Domain Containing 1) is a Protein Coding gene. Diseases associated with SOSTDC1 include Sclerosteosis and Hand-Foot-Genital Syndrome. Among its related pathways are Signaling by BMP. An important paralog of this gene is SOST.

UniProtKB/Swiss-Prot Summary for SOSTDC1 Gene

  • 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 BMP7 in a dose-dependent manner.

Gene Wiki entry for SOSTDC1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOSTDC1 Gene

Genomics for SOSTDC1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SOSTDC1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J016461 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 256.6 +66.3 66339 4.9 SMAD5 TBP MNT NFATC3 NKRF SKIL ZFP91 MYNN PRDM10 MLLT1 SOSTDC1 HSALNG0056355 LOC105375168 ENSG00000272537 CRPPA MEOX2
GH07J016490 Enhancer 1 Ensembl ENCODE 9.3 +37.2 37220 4.9 ZNF592 CEBPA JUND ZNF217 ARNT FOXA2 KDM6A MAFF NBN SMAD4 SOSTDC1 CRPPA piR-43105-588 MEOX2
GH07J016528 Enhancer 0.5 Ensembl 11.6 +2.1 2079 0.6 ZNF316 NFE2 MAFG CREB1 EMSY HSALNG0056356 LRRC72 SOSTDC1
GH07J016484 Enhancer 0.9 Ensembl ENCODE 5.3 +45.5 45520 1.6 JUND FEZF1 FOXA2 SMAD4 FOSL2 SOX5 HMG20A SP7 JUN DPF2 SOSTDC1 piR-43105-588 CRPPA MEOX2
GH07J016450 Enhancer 0.4 Ensembl 5.9 +79.8 79838 0.4 NFE2 MAFG FOS SOSTDC1 LOC105375168 HSALNG0056354 CRPPA MEOX2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SOSTDC1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOSTDC1

Top Transcription factor binding sites by QIAGEN in the SOSTDC1 gene promoter:
  • E47
  • FOXO3
  • FOXO3a
  • FOXO3b
  • HNF-3beta
  • Nkx2-5
  • Nkx6-1
  • POU2F1
  • POU2F1a

Genomic Locations for SOSTDC1 Gene

Latest Assembly
chr7:16,461,481-16,530,580
(GRCh38/hg38)
Size:
69,100 bases
Orientation:
Minus strand

Previous Assembly
chr7:16,501,106-16,505,363
(GRCh37/hg19 by Entrez Gene)
Size:
4,258 bases
Orientation:
Minus strand

chr7:16,501,106-16,570,205
(GRCh37/hg19 by Ensembl)
Size:
69,100 bases
Orientation:
Minus strand

Genomic View for SOSTDC1 Gene

Genes around SOSTDC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOSTDC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOSTDC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOSTDC1 Gene

Proteins for SOSTDC1 Gene

  • Protein details for SOSTDC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6X4U4-SOSD1_HUMAN
    Recommended name:
    Sclerostin domain-containing protein 1
    Protein Accession:
    Q6X4U4
    Secondary Accessions:
    • A8MUA6
    • Q96HJ7
    • Q9Y3U3

    Protein attributes for SOSTDC1 Gene

    Size:
    206 amino acids
    Molecular mass:
    23307 Da
    Quaternary structure:
    • Interacts with BMP2, BMP4, BMP6 and BMP7 with high affinity.

    Alternative splice isoforms for SOSTDC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SOSTDC1 Gene

Post-translational modifications for SOSTDC1 Gene

  • Glycosylation at Asn47 and Asn173
  • Modification sites at PhosphoSitePlus

Other Protein References for SOSTDC1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SOSTDC1 Gene

Domains & Families for SOSTDC1 Gene

Gene Families for SOSTDC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for SOSTDC1 Gene

InterPro:
Blocks:
  • Cystine knot, C-terminal
  • Sclerostin

Suggested Antigen Peptide Sequences for SOSTDC1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ96776, Homo sapiens sclerostin domain containing 1 (SOSTDC1), mRNA (A4D125_HUMAN)
  • cDNA FLJ36089 fis, clone TESTI2020426, highly similar to Sclerostin domain-containing protein 1 (A8MUA6_HUMAN)
  • Uterine sensitization-associated gene 1 protein (SOSD1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6X4U4

UniProtKB/Swiss-Prot:

SOSD1_HUMAN :
  • Belongs to the sclerostin family.
Family:
  • Belongs to the sclerostin family.
genes like me logo Genes that share domains with SOSTDC1: view

Function for SOSTDC1 Gene

Molecular function for SOSTDC1 Gene

UniProtKB/Swiss-Prot 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 BMP7 in a dose-dependent manner.

Phenotypes From GWAS Catalog for SOSTDC1 Gene

Gene Ontology (GO) - Molecular Function for SOSTDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0036122 BMP binding IDA 15020244
GO:0098821 BMP receptor activity IDA 15020244
genes like me logo Genes that share ontologies with SOSTDC1: view
genes like me logo Genes that share phenotypes with SOSTDC1: view

Animal Models for SOSTDC1 Gene

MGI Knock Outs for SOSTDC1:

Animal Models for research

  • Taconic Biosciences Mouse Models for SOSTDC1

miRNA for SOSTDC1 Gene

miRTarBase miRNAs that target SOSTDC1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOSTDC1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SOSTDC1 Gene

Localization for SOSTDC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOSTDC1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SOSTDC1 gene
Compartment Confidence
extracellular 5
plasma membrane 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (1)
  • Nucleoli (1)
  • Nucleoli rim (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SOSTDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA,IDA 15020244
genes like me logo Genes that share ontologies with SOSTDC1: view

Pathways & Interactions for SOSTDC1 Gene

PathCards logo

SuperPathways for SOSTDC1 Gene

SuperPathway Contained pathways
1 Signaling by BMP
genes like me logo Genes that share pathways with SOSTDC1: view

Pathways by source for SOSTDC1 Gene

1 BioSystems pathway for SOSTDC1 Gene

SIGNOR curated interactions for SOSTDC1 Gene

Gene Ontology (GO) - Biological Process for SOSTDC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007389 pattern specification process IEA --
GO:0010454 negative regulation of cell fate commitment IEA --
GO:0016055 Wnt signaling pathway IEA --
GO:0030178 negative regulation of Wnt signaling pathway IDA 15020244
GO:0030509 BMP signaling pathway IEA --
genes like me logo Genes that share ontologies with SOSTDC1: view

Drugs & Compounds for SOSTDC1 Gene

(1) Drugs for SOSTDC1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with SOSTDC1: view

Transcripts for SOSTDC1 Gene

mRNA/cDNA for SOSTDC1 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOSTDC1

Alternative Splicing Database (ASD) splice patterns (SP) for SOSTDC1 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b
SP1:
SP2:
SP3: -

Relevant External Links for SOSTDC1 Gene

GeneLoc Exon Structure for
SOSTDC1

Expression for SOSTDC1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SOSTDC1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SOSTDC1 Gene

This gene is overexpressed in Lung (x6.3), Stomach (x5.5), Skin - Not Sun Exposed (Suprapubic) (x5.0), and Skin - Sun Exposed (Lower leg) (x4.4).

Protein differential expression in normal tissues from HIPED for SOSTDC1 Gene

This gene is overexpressed in Milk (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SOSTDC1 Gene



Protein tissue co-expression partners for SOSTDC1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SOSTDC1

SOURCE GeneReport for Unigene cluster for SOSTDC1 Gene:

Hs.648106

mRNA Expression by UniProt/SwissProt for SOSTDC1 Gene:

Q6X4U4-SOSD1_HUMAN
Tissue specificity: Highly expressed in kidney and weakly in lung.

Evidence on tissue expression from TISSUES for SOSTDC1 Gene

  • Nervous system(4.6)
  • Bone marrow(4.2)
  • Kidney(2.3)
  • Skin(2.2)
  • Lung(2.1)
genes like me logo Genes that share expression patterns with SOSTDC1: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SOSTDC1 Gene

Orthologs for SOSTDC1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SOSTDC1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SOSTDC1 29 30
  • 99.84 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SOSTDC1 29 30
  • 96.6 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SOSTDC1 29 30
  • 93.69 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SOSTDC1 30
  • 93 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sostdc1 29
  • 90.94 (n)
Mouse
(Mus musculus)
Mammalia Sostdc1 29 16 30
  • 90.45 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia SOSTDC1 30
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SOSTDC1 29 30
  • 80.74 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SOSTDC1 30
  • 82 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia sostdc1 29
  • 70.13 (n)
African clawed frog
(Xenopus laevis)
Amphibia wise-A 29
Zebrafish
(Danio rerio)
Actinopterygii sostdc1a 29 30
  • 65.42 (n)
OneToOne
Species where no ortholog for SOSTDC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SOSTDC1 Gene

ENSEMBL:
Gene Tree for SOSTDC1 (if available)
TreeFam:
Gene Tree for SOSTDC1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SOSTDC1: view image
Alliance of Genome Resources:
Additional Orthologs for SOSTDC1

Paralogs for SOSTDC1 Gene

Paralogs for SOSTDC1 Gene

(1) SIMAP similar genes for SOSTDC1 Gene using alignment to 3 proteins:

  • SOSD1_HUMAN
  • A4D125_HUMAN
  • A8MUA6_HUMAN
genes like me logo Genes that share paralogs with SOSTDC1: view

Variants for SOSTDC1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOSTDC1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs115190299 Benign: not provided 16,462,707(-) G/C
NM_015464.3(SOSTDC1):c.462C>G (p.Thr154=)
SYNONYMOUS
rs191562421 Benign: not provided 16,462,639(-) T/C
NM_015464.3(SOSTDC1):c.530A>G (p.His177Arg)
MISSENSE
rs34300902 Benign: not provided 16,462,821(-) T/C
NM_015464.3(SOSTDC1):c.348A>G (p.Gly116=)
SYNONYMOUS
rs554609300 Benign: not provided 16,462,576(-) CT/C
NM_015464.3(SOSTDC1):c.592del (p.Ser198fs)
FRAMESHIFT
rs34016012 -- p.Gln189His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SOSTDC1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SOSTDC1 Gene

Variant ID Type Subtype PubMed ID
dgv6289n100 CNV gain 25217958
esv2759514 CNV loss 17122850

Variation tolerance for SOSTDC1 Gene

Residual Variation Intolerance Score: 47.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.32; 26.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SOSTDC1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SOSTDC1
Leiden Open Variation Database (LOVD)
SOSTDC1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOSTDC1 Gene

Disorders for SOSTDC1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SOSTDC1 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
sclerosteosis
  • cortical hyperostosis with syndactyly
hand-foot-genital syndrome
  • hfg
tooth agenesis
  • familial tooth agenesis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SOSTDC1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with SOSTDC1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SOSTDC1 Gene

Publications for SOSTDC1 Gene

  1. Identification of a secreted BMP antagonist, ectodin, integrating BMP, FGF, and SHH signals from the tooth enamel knot. (PMID: 14623234) Laurikkala J … Itoh N (Developmental biology 2003) 3 4 22
  2. A human bone morphogenetic protein antagonist is down-regulated in renal cancer. (PMID: 18032587) Blish KR … Torti SV (Molecular biology of the cell 2008) 3 22
  3. BMP antagonists: their roles in development and involvement in pathophysiology. (PMID: 15951218) Yanagita M (Cytokine & growth factor reviews 2005) 3 22
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for SOSTDC1 Gene

Sources for SOSTDC1 Gene