Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3321
Gene name Gene Name - the full gene name approved by the HGNC.
Immunoglobulin superfamily member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IGSF3
Synonyms (NCBI Gene) Gene synonyms aliases
EWI-3, LCDD, V8
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LCDD
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs724160030 G>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003674 Function Molecular_function ND
GO:0009986 Component Cell surface HDA 19581412
GO:0016021 Component Integral component of membrane IBA 21873635
GO:0032808 Process Lacrimal gland development IMP 24372406
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603491 5950 ENSG00000143061
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 32345670
Carcinogenesis Associate 29991755
Lung Injury Associate 32573489
Neoplasm Metastasis Associate 29991755
Non Muscle Invasive Bladder Neoplasms Associate 39817975
Pulmonary Disease Chronic Obstructive Associate 32573489
Retinopathy of Prematurity Associate 40084286
Sarcoidosis Associate 29510755