Gene Gene information from NCBI Gene database.
Entrez ID 64093
Gene name SPARC related modular calcium binding 1
Gene symbol SMOC1
Synonyms (NCBI Gene)
OAS
Chromosome 14
Chromosome location 14q24.2
Summary This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isof
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs143606483 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
rs370866589 C>G,T Likely-pathogenic Coding sequence variant, missense variant, stop gained
rs376672665 C>A,T Pathogenic Coding sequence variant, missense variant, stop gained
rs751356341 G>A,T Pathogenic Splice donor variant
rs863223317 G>A Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
646
miRTarBase ID miRNA Experiments Reference
MIRT052734 hsa-miR-1260b CLASH 23622248
MIRT612460 hsa-miR-624-3p HITS-CLIP 19536157
MIRT612459 hsa-miR-888-3p HITS-CLIP 19536157
MIRT612458 hsa-miR-4761-5p HITS-CLIP 19536157
MIRT527860 hsa-miR-1306-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0001654 Process Eye development IMP 21194678
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 23088713, 25416956, 31515488, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005604 Component Basement membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608488 20318 ENSG00000198732
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H4F8
Protein name SPARC-related modular calcium-binding protein 1 (Secreted modular calcium-binding protein 1) (SMOC-1)
Protein function Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07648 Kazal_2 42 87 Kazal-type serine protease inhibitor domain Domain
PF00086 Thyroglobulin_1 95 158 Thyroglobulin type-1 repeat Domain
PF16597 Thyroglob_assoc 159 219 Disordered
PF00086 Thyroglobulin_1 227 292 Thyroglobulin type-1 repeat Domain
PF10591 SPARC_Ca_bdg 313 424 Secreted protein acidic and rich in cysteine Ca binding region Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed in many tissues with a strongest signal in ovary. No expression in spleen. {ECO:0000269|PubMed:12130637}.
Sequence
Sequence length 434
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Microphthalmia with limb anomalies Likely pathogenic; Pathogenic rs772178551, rs1344296865, rs376672665, rs863223317, rs751356341, rs1114167455, rs1566709754, rs1566709825, rs1365818420, rs1326644602, rs370866589 RCV001783784
RCV001785004
RCV000023704
RCV000023705
RCV000023706
View all (7 more)
★★★★★
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
ANOPHTHALMOS WITH LIMB ANOMALIES CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATHEROSCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
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
Aarskog syndrome Aarskog Syndrome BEFREE 7810566
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32614981, 32711556, 36384809, 37550416, 39380021 Associate
★☆☆☆☆
Found in Text Mining only
Anophthalmos Syndromic microphthalmia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anophthalmos with limb anomalies Anophthalmia Pubtator 21194680, 30445150 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aortic Valve Calcification of Aortic valve disease Pubtator 33757126 Associate
★☆☆☆☆
Found in Text Mining only
Arhinencephaly Arrhinencephaly HPO_DG
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 21953607 Associate
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 15265232 Associate
★☆☆☆☆
Found in Text Mining only
Blepharophimosis Blepharophimosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 32964046 Associate
★☆☆☆☆
Found in Text Mining only