Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64093
Gene name Gene Name - the full gene name approved by the HGNC.
SPARC related modular calcium binding 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMOC1
Synonyms (NCBI Gene) Gene synonyms aliases
OAS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
OAS
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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
GO:0005604 Component Basement membrane IBA 21873635
GO:0005615 Component Extracellular space IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608488 20318 ENSG00000198732
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Hydrocephalus Hydrocephalus rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Mental retardation Severe intellectual disability, Moderate intellectual disability, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
Microphthalmia with limb anomalies Waardenburg Anophthalmia Syndrome, Microphthalmia with limb anomalies rs376672665, rs863223317, rs751356341, rs1114167455, rs1566709754, rs1566709825, rs1365818420, rs1326644602, rs370866589 28085523, 23646827, 21194678, 21194680, 21750680
Unknown
Disease term Disease name Evidence References Source
Osteoporosis Osteoporosis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenoma Associate 32092099
Alzheimer Disease Associate 32614981, 32711556, 36384809, 37550416, 39380021
Anophthalmos with limb anomalies Associate 21194680, 30445150
Aortic Valve Calcification of Associate 33757126
Arnold Chiari Malformation Associate 30445150
Arthritis Rheumatoid Associate 21953607
Astrocytoma Associate 15265232
Breast Neoplasms Associate 32964046
Calcinosis Inhibit 33757126
Carcinoma Non Small Cell Lung Associate 33562773