This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary fun... See more...
Aliases for SMOC2 Gene
Aliases for SMOC2 Gene
External Ids for SMOC2 Gene
- HGNC: 20323
- Entrez Gene: 64094
- Ensembl: ENSG00000112562
- OMIM: 607223
- UniProtKB: Q9H3U7
Previous GeneCards Identifiers for SMOC2 Gene
- GC06P168042
- GC06P168563
- GC06P168599
- GC06P168660
- GC06P168584
- GC06P168841
- GC06P166268
Summaries for SMOC2 Gene
-
This gene encodes a member of the SPARC family (secreted protein acidic and rich in cysteine/osteonectin/BM-40), which are highly expressed during embryogenesis and wound healing. The gene product is a matricellular protein which promotes matrix assembly and can stimulate endothelial cell proliferation and migration, as well as angiogenic activity. Associated with pulmonary function, this secretory gene product contains a Kazal domain, two thymoglobulin type-1 domains, and two EF-hand calcium-binding domains. The encoded protein may serve as a target for controlling angiogenesis in tumor growth and myocardial ischemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
GeneCards Summary for SMOC2 Gene
SMOC2 (SPARC Related Modular Calcium Binding 2) is a Protein Coding gene. Diseases associated with SMOC2 include Dentin Dysplasia, Type I and Dentin Dysplasia. Among its related pathways are Gastric Cancer Network 1. Gene Ontology (GO) annotations related to this gene include calcium ion binding and glycosaminoglycan binding. An important paralog of this gene is SMOC1.
UniProtKB/Swiss-Prot Summary for SMOC2 Gene
-
Promotes matrix assembly and cell adhesiveness (By similarity). Can stimulate endothelial cell proliferation, migration, as well as angiogenesis.
Additional gene information for SMOC2 Gene
- Monarch Initiative
- Search for SMOC2 at DataMed
- Search for SMOC2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMOC2 Gene
Genomics for SMOC2 Gene
GeneHancer (GH) Regulatory Elements for SMOC2 Gene
Promoters and enhancers for SMOC2 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH06J168438 | Promoter/Enhancer | 1.4 | EPDnew Ensembl ENCODE CraniofacialAtlas | 750.6 | -0.1 | -72 | 4.3 | GLIS2 ZIC2 ZBTB8A SP2 EZH2 ZFHX2 ZNF335 SIN3A GLIS1 ZNF398 | SMOC2 MG828713 LOC105378141 | |
| GH06J168417 | Enhancer | 0.7 | Ensembl ENCODE CraniofacialAtlas | 25.5 | -23.1 | -23102 | 1.8 | NFIA CTCF | SMOC2 LOC105378141 MG828713 | |
| GH06J168415 | Enhancer | 0.6 | ENCODE | 25.7 | -27.6 | -27590 | 0.4 | ZFX ZNF639 GMEB1 NRF1 ZBTB11 ZNF766 POLR2A E2F5 GABPA SKIL | LOC105378140 LOC105378141 MG828713 SMOC2 | |
| GH06J168451 | Enhancer | 0.9 | Ensembl ENCODE CraniofacialAtlas | 14.3 | +11.1 | 11050 | 2.8 | CTCF TRIM22 NFRKB POLR2A ZNF366 GLIS1 KLF1 ZNF48 | SMOC2 DACT2 lnc-KIF25-6 | |
| GH06J168525 | Enhancer | 0.6 | Ensembl ENCODE dbSUPER | 16.7 | +85.9 | 85857 | 2 | JUN | SMOC2 lnc-DACT2-4 piR-57134-101 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SMOC2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the SMOC2 gene promoter:
-
- AML1a
- C/EBPbeta
- FOXO1
- FOXO1a
- FOXO3
- IRF-1
- MyoD
- NRSF form 1
- NRSF form 2
- Sox9
Genomic Locations for SMOC2 Gene
Genomic Locations for SMOC2 Gene
- chr6:168,441,151-168,673,445
- (GRCh38/hg38)
- Size:
- 232,295 bases
- Orientation:
- Plus strand
- chr6:168,841,831-169,073,984
- (GRCh37/hg19)
- Size:
- 232,154 bases
- Orientation:
- Plus strand
Genomic View for SMOC2 Gene
Genes around SMOC2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6q27 by HGNC
- 6q27 by Entrez Gene
- 6q27 by Ensembl
SMOC2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SMOC2 Gene
Proteins for SMOC2 Gene
-
Protein details for SMOC2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9H3U7-SMOC2_HUMAN
- Recommended name:
- SPARC-related modular calcium-binding protein 2
- Protein Accession:
- Q9H3U7
- B3KPS7
- Q4G169
- Q5TAT7
- Q5TAT8
- Q86VV9
- Q96SF3
- Q9H1L3
- Q9H1L4
- Q9H3U0
- Q9H4F7
- Q9HCV2
Protein attributes for SMOC2 Gene
- Size:
- 446 amino acids
- Molecular mass:
- 49674 Da
- Quaternary structure:
-
- Binds various proteins from the extracellular matrix.
- SequenceCaution:
-
- Sequence=AAQ13639.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for SMOC2 Gene
Post-translational modifications for SMOC2 Gene
Other Protein References for SMOC2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SMOC2
- Novus Biologicals Antibodies for SMOC2
-
Abcam antibodies for SMOC2
- Invitrogen Antibodies for SMOC2 (AFLGC-SMOC2)
-
Biorbyt antibodies for SMOC2
-
Santa Cruz Biotechnology (SCBT) Antibodies for SMOC2
Protein Products
-
OriGene Purified Proteins for SMOC2
- Search Origene for MassSpec and Protein Over-expression Lysates for SMOC2
- Origene Custom Protein Services for SMOC2
- Novus Biologicals lysates for SMOC2
Assay Products
- RayBiotech Custom Human SMOC-2 ELISA
- antibodies-online: Show 5 available SMOC2 Elisa Kits ranked by validation data
- Compare Top SMOC2 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for SMOC2
No data available for DME Specific Peptides for SMOC2 Gene
Domains & Families for SMOC2 Gene
Gene Families for SMOC2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
- Predicted secreted proteins
Protein Domains for SMOC2 Gene
Suggested Antigen Peptide Sequences for SMOC2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA, FLJ78819, highly similar to SPARC-related modular calcium-binding protein 2 (B4DNB1_HUMAN)
- Smooth muscle-associated protein 2 (SMOC2_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SMOC2 Gene
Function for SMOC2 Gene
Molecular function for SMOC2 Gene
- UniProtKB/Swiss-Prot Function:
- Promotes matrix assembly and cell adhesiveness (By similarity). Can stimulate endothelial cell proliferation, migration, as well as angiogenesis.
Phenotypes From GWAS Catalog for SMOC2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | ISA | 12741954 |
| GO:0005515 | protein binding | IEA | -- |
| GO:0005539 | glycosaminoglycan binding | IEA | -- |
| GO:0008201 | heparin binding | IEA | -- |
| GO:0046872 | metal ion binding | IEA | -- |
Phenotypes for SMOC2 Gene
- MGI mutant phenotypes for SMOC2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SMOC2:
Animal Models for SMOC2 Gene
- MGI Knock Outs for SMOC2:
-
- Smoc2 Smoc2<tm1.1(KOMP)Vlcg>
Animal Model Products
-
Taconic Biosciences Mouse Models for SMOC2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SMOC2 - Select products 50% OFF >
- * SMOC2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SMOC2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for SMOC2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMOC2
- genomics-online: gRNA clones - Search for available SMOC2 gRNA products
- Overview of 139 available SMOC2 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMOC2
miRNA for SMOC2 Gene
- miRTarBase miRNAs that target SMOC2
-
- hsa-mir-335-5p (MIRT017988)
- hsa-mir-3156-5p (MIRT612435)
- hsa-mir-1299 (MIRT612436)
- hsa-mir-3118 (MIRT612437)
- hsa-mir-134-5p (MIRT612438)
- hsa-mir-6722-3p (MIRT612439)
- hsa-mir-1909-3p (MIRT612440)
- hsa-mir-6836-5p (MIRT612441)
- hsa-mir-5002-3p (MIRT612442)
- hsa-mir-6132 (MIRT612443)
- hsa-mir-6128 (MIRT612444)
- hsa-mir-875-3p (MIRT612445)
- hsa-mir-1205 (MIRT612446)
- hsa-mir-509-5p (MIRT612447)
- hsa-mir-509-3-5p (MIRT612448)
- hsa-mir-4418 (MIRT612449)
- hsa-mir-8055 (MIRT646611)
- hsa-mir-6807-5p (MIRT646612)
- hsa-mir-6124 (MIRT646613)
- hsa-mir-3148 (MIRT646614)
- hsa-mir-3121-5p (MIRT646615)
- hsa-mir-3688-3p (MIRT646616)
- hsa-mir-548e-5p (MIRT646617)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SMOC2
- Browse OriGene Inhibitory RNA Products For SMOC2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMOC2
- genomics-online: shRNA clones - Search for available SMOC2 shRNA products
- Overview of 139 available SMOC2 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for SMOC2 - Select products 50% OFF >
- * SMOC2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SMOC2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for SMOC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMOC2
- genomics-online: cdna clones - Search for available SMOC2 CDNA products
- Overview of 139 available SMOC2 gene related products
- orf clones - Search for available SMOC2 ORF products
- Overview of 139 available SMOC2 gene related products
Cell Line Products
-
Horizon Cell Lines for SMOC2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SMOC2 Gene
Localization for SMOC2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SMOC2 Gene
- Secreted, extracellular space, extracellular matrix, basement membrane.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| peroxisome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005604 | basement membrane | IEA | -- |
| GO:0005614 | interstitial matrix | IEA | -- |
| GO:0005615 | extracellular space | IDA | 16774925 |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for SMOC2 Gene
Pathways & Interactions for SMOC2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Gastric Cancer Network 1 | ||
Pathways by source for SMOC2 Gene
1 BioSystems pathway for SMOC2 Gene
Interacting Proteins for SMOC2 Gene
GPS-Prot Interaction Network for SMOC2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0010595 | positive regulation of endothelial cell migration | IDA | 16774925 |
| GO:0010811 | positive regulation of cell-substrate adhesion | IEA | -- |
| GO:0030198 | extracellular matrix organization | IEA | -- |
| GO:0035470 | positive regulation of vascular wound healing | IDA | 16774925 |
| GO:0045743 | positive regulation of fibroblast growth factor receptor signaling pathway | IDA | 16774925 |
No data available for SIGNOR curated interactions for SMOC2 Gene
Transcripts for SMOC2 Gene
mRNA/cDNA for SMOC2 Gene
- (2) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (236) Selected AceView cDNA sequences:
- (6) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000354536 3150 bps (ENST00000354536.9)
- ENST00000356284 3117 bps (ENST00000356284.6)
- ENST00000392100 400 bps (ENST00000392100.6)
- ENST00000417208 672 bps (ENST00000417208.1)
- ENST00000477998 362 bps (ENST00000477998.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SMOC2 - Select products 50% OFF >
- * SMOC2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * SMOC2 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for SMOC2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMOC2
- genomics-online: gRNA clones - Search for available SMOC2 gRNA products
- Overview of 139 available SMOC2 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMOC2
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SMOC2
- Browse OriGene Inhibitory RNA Products For SMOC2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMOC2
- genomics-online: shRNA clones - Search for available SMOC2 shRNA products
- Overview of 139 available SMOC2 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for SMOC2 - Select products 50% OFF >
- * SMOC2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * SMOC2 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for SMOC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMOC2
- genomics-online: cdna clones - Search for available SMOC2 CDNA products
- Overview of 139 available SMOC2 gene related products
- orf clones - Search for available SMOC2 ORF products
- Overview of 139 available SMOC2 gene related products
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | ||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||
| SP3: | - |
Expression for SMOC2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
- Renal Collecting Duct System
- Metanephros
- Bone (Muscoskeletal System)
-
Endothelium (Cardiovascular System)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
- Endothelial Cells Blood Brain Barrier
-
Intermediate Mesoderm (Gastrulation Derivatives)
- Mesonephric cells Mesonephros
- Mesonephros
-
Brain (Nervous System)
- Endothelial Cells Blood Brain Barrier
- Cerebellum
- Cartilage (Muscoskeletal System)
-
Ovary (Reproductive System)
- Cumulus Cells Antral Follicle
-
Heart (Cardiovascular System)
- Mature Cardiac Fibroblasts Myocardium
-
Fibroblasts
- Mature Cardiac Fibroblasts Myocardium
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Gonad
- Mesonephric cells Mesonephros
-
Limb (Muscoskeletal System)
- Mesenchymal Condensate Cells Zeugopod
- NULL (Uncategorized)
-
Uterus (Reproductive System)
-
Gall Bladder (Hepatobiliary System)
-
Esophagus (Gastrointestinal Tract)
mRNA differential expression in normal tissues according to GTEx for SMOC2 Gene
This gene is overexpressed in Artery - Aorta (x9.9).
This gene is overexpressed in Pancreas (30.6), Testis (24.3), and Gallbladder (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SMOC2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of SMOC2 Gene:
SMOC2SOURCE GeneReport for Unigene cluster for SMOC2 Gene:
Hs.487200Evidence on tissue expression from TISSUES for SMOC2 Gene
- Heart(4.4)
- Nervous system(4.3)
- Lymph node(4.2)
- Eye(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SMOC2 Gene
Germ Layers:
- mesoderm
Systems:
- skeleton
Regions:
Head and neck:
- head
- jaw
- mandible
- maxilla
- mouth
- skull
- tooth
Primer Products
-
OriGene qPCR primer pairs for SMOC2
-
OriGene qPCR primer pairs and template standards for SMOC2
- genomics-online: primer clones - Search for available SMOC2 Primer products
- Overview of 139 available SMOC2 gene related products
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for SMOC2 Gene
Orthologs for SMOC2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SMOC2 33 32 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
OneToMany | |
| -- 33 |
|
OneToMany | |||
| -- 33 |
|
OneToMany | |||
| oppossum (Monodelphis domestica) |
Mammalia | SMOC2 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SMOC2 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SMOC2 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Smoc2 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Smoc2 17 33 32 |
|
||
| chicken (Gallus gallus) |
Aves | SMOC2 33 32 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SMOC2 33 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | SMOC2 (1 of 2) 33 |
|
OneToMany | |
| SMOC2 (2 of 2) 33 |
|
OneToMany | |||
| wufb75d10 32 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | magu 33 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | T04F3.2 33 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
- Species where no ortholog for SMOC2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
- 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 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)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Evolution for SMOC2 Gene
- ENSEMBL:
- Gene Tree for SMOC2 (if available)
- TreeFam:
- Gene Tree for SMOC2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SMOC2: view image
Paralogs for SMOC2 Gene
Variants for SMOC2 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs786200927 | pathogenic, Dentin dysplasia, type I, with extreme microdontia and misshapen teeth | 168,441,455(+) | G/T | splice_donor_variant | |
| rs875989843 | pathogenic, Dentin dysplasia, type I, with extreme microdontia and misshapen teeth | 168,598,828(+) | T/A/C | coding_sequence_variant, stop_gained, synonymous_variant | |
| rs770992223 | likely-pathogenic, not provided | 168,653,063(+) | CCC/CC | coding_sequence_variant, frameshift | |
| rs1378145545 | uncertain-significance, not provided | 168,526,358(+) | G/A | coding_sequence_variant, missense_variant | |
| rs1000006439 | -- | 168,478,127(+) | A/G | intron_variant |
Residual Variation Intolerance Score:
20.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.31;
41.31% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SMOC2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMOC2 Gene
Disorders for SMOC2 Gene
(3) MalaCards diseases for SMOC2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| dentin dysplasia, type i |
|
|
| dentin dysplasia |
|
|
| type 1 diabetes mellitus 8 |
|
|
Search SMOC2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SMOC2_HUMAN- Dentin dysplasia 1 (DTDP1) [MIM:125400]: A dental defect in which both primary and secondary dentitions are affected. The clinical crowns of both permanent and deciduous teeth are of normal shape, form and color in most cases, although they may be slightly opalescent and blue or brown. Teeth may be very mobile and exfoliate spontaneously because of inadequate root formation. On radiographs, the roots are short and may be more pointed than normal. Pulp chambers are usually absent except for a chevron-shaped remnant in the crown. Root canals are usually absent. {ECO:0000269 PubMed:22152679}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SMOC2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SMOC2 Gene
Publications for SMOC2 Gene
- Identification of a novel smooth muscle associated protein, smap2, upregulated during neointima formation in a rat carotid endarterectomy model. (PMID: 12031507) Nishimoto S … Komurasaki T (Biochimica et biophysica acta 2002) 2 3 4 56
- Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects. (PMID: 22152679) Bloch-Zupan A … Dollfus H (American journal of human genetics 2011) 3 4 56
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
- Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. (PMID: 19890347) Birlea SA … Spritz RA (The Journal of investigative dermatology 2010) 3 43 56
- SMOC2 gene variant and the risk of vitiligo in Jordanian Arabs. (PMID: 20965805) Alkhateeb A … Qarqaz F (European journal of dermatology : EJD 2010) 3 43 56
ExternalLinks
Products for SMOC2 Gene
- Custom Antibody ServicesOriGene Antibodies for SMOC2
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for SMOC2
- Search Origene for MassSpec and Protein Over-expression Lysates for SMOC2
- Origene Custom Protein Services for SMOC2
- Origene sirna, shrna, and RNAi products in human, mouse, rat for SMOC2
- Browse OriGene Inhibitory RNA Products For SMOC2
- OriGene qPCR primer pairs for SMOC2
- OriGene qPCR primer pairs and template standards for SMOC2
- OriGene CRISPR knockouts for SMOC2
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For SMOC2
- Sino Biological Human cDNA Clone for SMOC2
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for SMOC2
- Novus Biologicals lysates for SMOC2
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for SMOC2
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for SMOC2
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for SMOC2 (AFLGC-SMOC2)
- antibodies-online: Show 12 available SMOC2 Antibodies ranked by validation data
- Compare Top SMOC2 Antibodies
- antibodies-online: Show 5 available SMOC2 Elisa Kits ranked by validation data
- Compare Top SMOC2 Elisa Kits
- Quality Products:
- antibodies-online: Search results for available SMOC2 related products ranked by validation data
- Santa Cruz Biotechnology (SCBT) Antibodies for SMOC2
- Search Santa Cruz Biotechnology (SCBT) for SMOC2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SMOC2
- Horizon Cell Lines for SMOC2
- genomics-online: cdna clones - Search for available SMOC2 CDNA products
- Overview of 139 available SMOC2 gene related products
- orf clones - Search for available SMOC2 ORF products
- Overview of 139 available SMOC2 gene related products
- genomics-online: gRNA clones - Search for available SMOC2 gRNA products
- Overview of 139 available SMOC2 gene related products
- genomics-online: primer clones - Search for available SMOC2 Primer products
- Overview of 139 available SMOC2 gene related products
- genomics-online: shRNA clones - Search for available SMOC2 shRNA products
- Overview of 139 available SMOC2 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMOC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMOC2
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SMOC2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMOC2
- Browse Boster Bio Antibodies
- Boster Bio ELISA Kits for SMOC2
- Biorbyt antibodies for SMOC2
Sources for SMOC2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource