Gene Gene information from NCBI Gene database.
Entrez ID 3321
Gene name Immunoglobulin superfamily member 3
Gene symbol IGSF3
Synonyms (NCBI Gene)
EWI-3LCDDV8
Chromosome 1
Chromosome location 1p13.1
Summary The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs724160030 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
574
miRTarBase ID miRNA Experiments Reference
MIRT025690 hsa-miR-7-5p Microarray 19073608
MIRT027022 hsa-miR-103a-3p Sequencing 20371350
MIRT029114 hsa-miR-26b-5p Microarray 19088304
MIRT032291 hsa-let-7b-5p Proteomics 18668040
MIRT043984 hsa-miR-378a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
GO ID Ontology Definition Evidence Reference
GO:0009986 Component Cell surface HDA 19581412
GO:0016020 Component Membrane IBA
GO:0016020 Component Membrane IEA
GO:0032808 Process Lacrimal gland development IMP 24372406
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603491 5950 ENSG00000143061
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75054
Protein name Immunoglobulin superfamily member 3 (IgSF3) (Glu-Trp-Ile EWI motif-containing protein 3) (EWI-3)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 26 141 Immunoglobulin V-set domain Domain
PF07686 V-set 150 264 Immunoglobulin V-set domain Domain
PF07686 V-set 684 809 Immunoglobulin V-set domain Domain
PF07686 V-set 821 946 Immunoglobulin V-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in a wide range of tissues with High expression in Placenta, kidney and lung. {ECO:0000269|PubMed:9790749}.
Sequence
MKCFFPVLSCLAVLGVVSAQRQVTVQEGPLYRTEGSHITIWCNVSGYQGPSEQNFQWSIY
LPSSPEREVQIVSTMDSSFPYAIYTQRVRGGKIFIERVQGNSTLLHITDLQARDAGEYEC
HTPSTDKQYFGSYSAKMNLVV
IPDSLQTTAMPQTLHRVEQDPLELTCEVASETIQHSHLS
VAWLRQKVGEKPVEVISLSRDFMLHSSSEYAQRQSLGEVRLDKLGRTTFRLTIFHLQPSD
QGEFYCEAAEWIQDPDGSWYAMTR
KRSEGAVVNVQPTDKEFTVRLETEKRLHTVGEPVEF
RCILEAQNVPDRYFAVSWAFNSSLIATMGPNAVPVLNSEFAHREARGQLKVAKESDSVFV
LKIYHLRQEDSGKYNCRVTEREKTVTGEFIDKESKRPKNIPIIVLPLKSSISVEVASNAS
VILEGEDLRFSCSVRTAGRPQGRFSVIWQLVDRQNRRSNIMWLDRDGTVQPGSSYWERSS
FGGVQMEQVQPNSFSLGIFNSRKEDEGQYECHVTEWVRAVDGEWQIVGERRASTPISITA
LEMGFAVTAISRTPGVTYSDSFDLQCIIKPHYPAWVPVSVTWRFQPVGTVEFHDLVTFTR
DGGVQWGDRSSSFRTRTAIEKAESSNNVRLSISRASDTEAGKYQCVAELWRKNYNNTWTR
LAERTSNLLEIRVLQPVTKLQVSKSKRTLTLVENKPIQLNCSVKSQTSQNSHFAVLWYVH
KPSDADGKLILKTTHNSAFEYGTYAEEEGLRARLQFERHVSGGLFSLTVQRAEVSDSGSY
YCHVEEWLLSPNYAWYKLAEEVSGRTEVT
VKQPDSRLRLSQAQGNLSVLETRQVQLECVV
LNRTSITSQLMVEWFVWKPNHPERETVARLSRDATFHYGEQAAKNNLKGRLHLESPSPGV
YRLFIQNVAVQDSGTYSCHVEEWLPSPSGMWYKRAEDTAGQTALTV
MRPDASLQVDTVVP
NATVSEKAAFQLDCSIVSRSSQDSRFAVAWYSLRTKAGGKRSSPGLEEQEEEREEEEEED
DDDDDDPTERTALLSVGPDAVFGPEGSPWEGRLRFQRLSPVLYRLTVLQASPQDTGNYSC
HVEEWLPSPQKEWYRLTEEESAPIGIRVLDTSPTLQSIICSNDALFYFVFFYPFPIFGIL
IITILLVRFKSRNSSKNSDGKNGVPLLWIKEPHLNYSPTCLEPPVLSIHPGAID
Sequence length 1194
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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
Familial congenital nasolacrimal duct obstruction Pathogenic; Likely pathogenic rs724160030, rs61730489 RCV000149880
RCV003989127
★★★★☆
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHILDHOOD ONSET ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Esophageal atresia Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Fanconi syndrome Fanconi syndrome BEFREE 30200082
★☆☆☆☆
Found in Text Mining only
Adult Rickets Rickets BEFREE 30200082
★☆☆☆☆
Found in Text Mining only
Atresia of nasolacrimal duct Atresia Of Nasolacrimal Duct HPO_DG
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 29991755 Associate
★☆☆☆☆
Found in Text Mining only
Excessive tearing Excessive Tearing HPO_DG
★☆☆☆☆
Found in Text Mining only
Intellectual Disability Mental retardation BEFREE 27328461
★☆☆☆☆
Found in Text Mining only
Lacrimal mucocele Lacrimal Mucocele HPO_DG
★☆☆☆☆
Found in Text Mining only
Lacrimal Puncta, Absence of Absent lacrimal punctum ORPHANET_DG 24372406
★☆☆☆☆
Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance Monoclonal Gammapathies BEFREE 30200082
★☆☆☆☆
Found in Text Mining only
Nephritis, Interstitial Nephritis BEFREE 30200082
★☆☆☆☆
Found in Text Mining only