SMOC2 Gene (Protein Coding)

SPARC Related Modular Calcium Binding 2

GC06P168441
GIFtS:
41
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

  • SPARC Related Modular Calcium Binding 2 2 3 5
  • SMAP2 2 3 4
  • SPARC-Related Modular Calcium-Binding Protein 2 3 4
  • Secreted Modular Calcium-Binding Protein 2 3 4
  • SMAP-2 3 4
  • SMOC-2 3 4
  • Thyroglobulin Type-1 Repeat Containing Protein 3
  • Smooth Muscle Associated Protein 2 3
  • Smooth Muscle-Associated Protein 2 4
  • BA270C4A.1 3
  • DJ421D16.1 3
  • BA37D8.1 3
  • MSTP117 3
  • MSTP140 3
  • MST117 3
  • DTDP1 3
  • SMOC2 5

External Ids for SMOC2 Gene

Previous GeneCards Identifiers for SMOC2 Gene

  • GC06P168042
  • GC06P168563
  • GC06P168599
  • GC06P168660
  • GC06P168584
  • GC06P168841
  • GC06P166268

Summaries for SMOC2 Gene

Entrez Gene Summary 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.

Gene Wiki entry for SMOC2 Gene

Additional gene information for SMOC2 Gene

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 Pubs

Download GeneHancer 2017 data
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 600.7 -0.1 -72 4.3 ZIC2 EZH2 ZNF341 SP2 ZBTB26 MYC ZFHX2 ZNF335 SIN3A GLIS1 SMOC2 LOC105378141 MG828713 DACT2
GH06J168417 Enhancer 0.8 Ensembl ENCODE CraniofacialAtlas 25.5 -23.1 -23102 1.8 ZNF341 CTCF NFIA RAD21 SMOC2 LOC105378141 MG828713 DACT2
GH06J168415 Enhancer 0.7 ENCODE 25.7 -27.6 -27590 0.4 KDM1A NRF1 ZNF766 POLR2A E2F5 ZBTB11 GABPA EP400 ZNF644 HDAC8 LOC105378140 LOC105378141 MG828713 SMOC2 DACT2
GH06J168451 Enhancer 0.9 Ensembl ENCODE CraniofacialAtlas 14.3 +11.1 11050 2.8 CTCF NFRKB POLR2A ZNF366 GLIS1 SMARCA4 ZNF48 KLF1 RAD21 TRIM22 SMOC2 DACT2 lnc-KIF25-6 THBS2
GH06J168246 Enhancer 1 Ensembl ENCODE 10.3 -193.7 -193650 2.2 PRDM10 ZNF629 ZIC2 PATZ1 ZNF501 ZNF600 ZNF341 CEBPA ZNF561 SCRT2 SMOC2 LOC101929420 piR-60794-016 DACT2 FRMD1
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMOC2

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:
SMOC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SMOC2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for SMOC2 Gene

Proteins for SMOC2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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
    Secondary Accessions:
    • 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=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SMOC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SMOC2 Gene

Protein Expression for SMOC2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SMOC2 Gene

  • Glycosylation at Asn206 and Asn362
  • Modification sites at PhosphoSitePlus

Other Protein References for SMOC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
Blocks:
  • Thyroglobulin type-1
ProtoNet:

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)
genes like me logo Genes that share domains with SMOC2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SMOC2 Gene

Function for SMOC2 Gene

Products:

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  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

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

Gene Ontology (GO) - Molecular Function for SMOC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA,ISA 12741954
GO:0005515 protein binding IEA --
GO:0005539 glycosaminoglycan binding IEA --
GO:0008201 heparin binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SMOC2: view
genes like me logo Genes that share phenotypes with SMOC2: view

Human Phenotype Ontology for SMOC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

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

Inhibitory RNA Products

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

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 SMOC2 gene
Compartment Confidence
extracellular 5
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for SMOC2 Gene

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 --
genes like me logo Genes that share ontologies with SMOC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SMOC2 Gene

Pathways & Interactions for SMOC2 Gene

PathCards logo

SuperPathways for SMOC2 Gene

SuperPathway Contained pathways
1 Gastric Cancer Network 1
Gastric Cancer Network 1
-
genes like me logo Genes that share pathways with SMOC2: view

Pathways by source for SMOC2 Gene

1 BioSystems pathway for SMOC2 Gene

Gene Ontology (GO) - Biological Process for SMOC2 Gene

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
genes like me logo Genes that share ontologies with SMOC2: view

No data available for SIGNOR curated interactions for SMOC2 Gene

Drugs & Compounds for SMOC2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for SMOC2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for SMOC2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMOC2

Alternative Splicing Database (ASD) splice patterns (SP) for SMOC2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - -
SP2: - -
SP3: -

Relevant External Links for SMOC2 Gene

GeneLoc Exon Structure for
SMOC2

Expression for SMOC2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SMOC2 Gene

mRNA expression in normal human tissues for SMOC2 Gene
mRNA expression by BioGPS for SMOC2 GenemRNA expression by GTEx for SMOC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SMOC2 Gene

This gene is overexpressed in Artery - Aorta (x9.9).

Protein differential expression in normal tissues from HIPED for SMOC2 Gene

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



Protein tissue co-expression partners for SMOC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMOC2

SOURCE GeneReport for Unigene cluster for SMOC2 Gene:

Hs.487200

Evidence on tissue expression from TISSUES for SMOC2 Gene

  • Heart(4.5)
  • Nervous system(4.5)
  • Lymph node(4.3)
  • Intestine(2.6)
  • Eye(2.5)
  • Muscle(2.4)
  • Thyroid gland(2.2)
  • Skin(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
genes like me logo Genes that share expression patterns with SMOC2: view

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.

Orthologs for SMOC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia SMOC2 30 31
  • 99.12 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 96 (a)
 OneToMany
-- 31
  • 76 (a)
 OneToMany
-- 31
  • 39 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia SMOC2 31
  • 90 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SMOC2 30 31
  • 88.07 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia SMOC2 30 31
  • 87.49 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Smoc2 30
  • 85.13 (n)
Mouse
(Mus musculus)
 Mammalia Smoc2 30 17 31
  • 84.45 (n)
 OneToOne
Chicken
(Gallus gallus)
 Aves SMOC2 30 31
  • 79.02 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia SMOC2 31
  • 82 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii SMOC2 (1 of 2) 31
  • 69 (a)
 OneToMany
SMOC2 (2 of 2) 31
  • 68 (a)
 OneToMany
wufb75d10 30
Fruit Fly
(Drosophila melanogaster)
 Insecta magu 31
  • 18 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea T04F3.2 31
  • 23 (a)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 29 (a)
 OneToMany
Species where no ortholog for SMOC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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

Paralogs for SMOC2 Gene

(2) SIMAP similar genes for SMOC2 Gene using alignment to 3 proteins:

  • SMOC2_HUMAN
  • H0Y3J4_HUMAN
  • H0Y5I1_HUMAN
genes like me logo Genes that share paralogs with SMOC2: view

Variants for SMOC2 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMOC2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
709829 Likely Benign: not provided 168,549,201(+) C/T MISSENSE_VARIANT
717704 Benign: not provided 168,650,739(+) G/A SYNONYMOUS_VARIANT
776186 Benign: not provided 168,653,098(+) C/T SYNONYMOUS_VARIANT
781761 Likely Benign: not provided 168,653,186(+) G/A MISSENSE_VARIANT
781890 Benign: not provided 168,664,103(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SMOC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SMOC2 Gene

Variant ID Type Subtype PubMed ID
dgv1044e201 CNV deletion 23290073
dgv1045e201 CNV deletion 23290073
dgv1079n67 CNV loss 20364138
dgv11070n54 CNV loss 21841781
dgv11071n54 CNV loss 21841781
dgv11072n54 CNV loss 21841781
dgv11073n54 CNV loss 21841781
dgv1854e212 CNV loss 25503493
dgv1855e212 CNV loss 25503493
dgv3445n106 CNV deletion 24896259
dgv3716e59 CNV duplication 20981092
esv1003442 CNV deletion 20482838
esv1048919 CNV deletion 17803354
esv1130462 CNV deletion 17803354
esv1130498 CNV deletion 17803354
esv1170089 CNV deletion 17803354
esv1317054 CNV insertion 17803354
esv1451948 CNV deletion 17803354
esv1523390 CNV deletion 17803354
esv1569263 CNV insertion 17803354
esv1584909 CNV deletion 17803354
esv1954927 CNV deletion 18987734
esv2125624 CNV deletion 18987734
esv21613 CNV gain+loss 19812545
esv23308 CNV gain+loss 19812545
esv2364688 CNV deletion 18987734
esv2418924 CNV deletion 18987734
esv2421506 CNV deletion 20811451
esv2454869 CNV deletion 19546169
esv24962 CNV loss 19812545
esv2534031 CNV insertion 19546169
esv2574703 CNV deletion 19546169
esv25984 CNV loss 19812545
esv26287 CNV loss 19812545
esv2657529 CNV deletion 23128226
esv2659288 CNV deletion 23128226
esv2659436 CNV deletion 23128226
esv2659657 CNV deletion 23128226
esv2667014 CNV deletion 23128226
esv2670112 CNV deletion 23128226
esv2670521 CNV deletion 23128226
esv2670774 CNV deletion 23128226
esv2674894 CNV deletion 23128226
esv2676022 CNV deletion 23128226
esv2676251 CNV deletion 23128226
esv27003 CNV gain+loss 19812545
esv2733360 CNV deletion 23290073
esv2733363 CNV deletion 23290073
esv2733364 CNV deletion 23290073
esv2733365 CNV deletion 23290073
esv2733366 CNV deletion 23290073
esv2733367 CNV deletion 23290073
esv2733368 CNV deletion 23290073
esv2733369 CNV deletion 23290073
esv2733370 CNV deletion 23290073
esv2733371 CNV deletion 23290073
esv2733372 CNV deletion 23290073
esv2733374 CNV deletion 23290073
esv2733375 CNV deletion 23290073
esv2733376 CNV deletion 23290073
esv2733377 CNV deletion 23290073
esv2733378 CNV deletion 23290073
esv2733379 CNV deletion 23290073
esv2733380 CNV deletion 23290073
esv2733381 CNV deletion 23290073
esv2733382 CNV deletion 23290073
esv2733383 CNV deletion 23290073
esv2733386 CNV deletion 23290073
esv2733388 CNV deletion 23290073
esv2733390 CNV deletion 23290073
esv2733392 CNV deletion 23290073
esv2733393 CNV deletion 23290073
esv2733394 CNV deletion 23290073
esv2733396 CNV deletion 23290073
esv2733397 CNV deletion 23290073
esv2733398 CNV deletion 23290073
esv2733399 CNV deletion 23290073
esv2733400 CNV deletion 23290073
esv2733401 CNV deletion 23290073
esv2733402 CNV deletion 23290073
esv2733403 CNV deletion 23290073
esv2733404 CNV deletion 23290073
esv2733405 CNV deletion 23290073
esv2733407 CNV deletion 23290073
esv2759494 CNV gain+loss 17122850
esv3115 CNV loss 18987735
esv3334610 CNV duplication 20981092
esv3346153 CNV duplication 20981092
esv3364953 CNV duplication 20981092
esv3384941 CNV duplication 20981092
esv3400911 CNV duplication 20981092
esv3416512 CNV duplication 20981092
esv3447281 CNV duplication 20981092
esv3447683 CNV duplication 20981092
esv3540911 CNV deletion 23714750
esv3540914 CNV deletion 23714750
esv3540915 CNV deletion 23714750
esv3611690 CNV loss 21293372
esv3611691 CNV loss 21293372
esv3611692 CNV loss 21293372
esv3611694 CNV loss 21293372
esv3611695 CNV loss 21293372
esv8086 CNV loss 19470904
nsv1027015 CNV gain 25217958
nsv1035094 CNV gain 25217958
nsv1078976 CNV insertion 25765185
nsv1118007 CNV deletion 24896259
nsv1124150 CNV deletion 24896259
nsv1124947 CNV duplication 24896259
nsv1128292 CNV deletion 24896259
nsv1129772 CNV tandem duplication 24896259
nsv1130853 CNV deletion 24896259
nsv1132029 CNV deletion 24896259
nsv1137179 CNV deletion 24896259
nsv1146922 CNV deletion 26484159
nsv1148280 CNV deletion 26484159
nsv1152894 CNV deletion 26484159
nsv348653 CNV deletion 16902084
nsv349668 CNV deletion 16902084
nsv350124 CNV deletion 16902084
nsv428156 CNV gain+loss 18775914
nsv442021 CNV loss 18776908
nsv442022 CNV loss 18776908
nsv509174 CNV insertion 20534489
nsv509175 CNV insertion 20534489
nsv510062 OTHER sequence alteration 20534489
nsv510953 OTHER complex 20534489
nsv511929 CNV loss 21212237
nsv511930 CNV loss 21212237
nsv516247 CNV loss 19592680
nsv522533 CNV loss 19592680
nsv524357 CNV loss 19592680
nsv525282 CNV loss 19592680
nsv5595 CNV deletion 18451855
nsv605474 CNV loss 21841781
nsv605479 CNV gain 21841781
nsv605483 CNV loss 21841781
nsv605484 CNV loss 21841781
nsv605486 CNV loss 21841781
nsv605487 CNV gain 21841781
nsv605488 CNV loss 21841781
nsv605491 CNV loss 21841781
nsv7390 OTHER inversion 18451855
nsv8008 CNV loss 18304495
nsv8009 CNV gain+loss 18304495
nsv821170 CNV deletion 20802225
nsv821321 CNV deletion 20802225
nsv830868 CNV gain 17160897
nsv830869 CNV loss 17160897
nsv949900 CNV deletion 24416366
nsv958336 CNV deletion 24416366
nsv958352 CNV deletion 24416366

Variation tolerance for SMOC2 Gene

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

Human Gene Mutation Database (HGMD)
SMOC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SMOC2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMOC2 Gene

Disorders for SMOC2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SMOC2 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dentin dysplasia, type i
  • dtdp1
dentin dysplasia
  • dd
type 1 diabetes mellitus 8
  • diabetes mellitus, insulin-dependent, 8
adenosquamous gallbladder carcinoma
  • adenosquamous carcinoma of gallbladder
tooth agenesis
  • familial tooth agenesis
- elite association - COSMIC cancer census association via MalaCards
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
Open Targets Platform
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No data available for Genatlas for SMOC2 Gene

Publications for SMOC2 Gene

  1. 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
  2. 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
  3. 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 41
  4. 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 41
  5. SMOC2 gene variant and the risk of vitiligo in Jordanian Arabs. (PMID: 20965805) Alkhateeb A … Qarqaz F (European journal of dermatology : EJD 2010) 3 41

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