Format

Send to:

Choose Destination

IGSF3 immunoglobulin superfamily member 3 [ Homo sapiens (human) ]

Gene ID: 3321, updated on 16-Oct-2021

Summary

Official Symbol
IGSF3provided by HGNC
Official Full Name
immunoglobulin superfamily member 3provided by HGNC
Primary source
HGNC:HGNC:5950
See related
Ensembl:ENSG00000143061 MIM:603491
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
V8; LCDD; EWI-3
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]
Expression
Broad expression in esophagus (RPKM 8.2), skin (RPKM 7.8) and 19 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See IGSF3 in Genome Data Viewer
Location:
1p13.1
Exon count:
15
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (116574398..116667755, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (117117020..117210377, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene CD58 molecule Neighboring gene uncharacterized LOC105378925 Neighboring gene microRNA 548ac Neighboring gene uncharacterized LOC105378924 Neighboring gene microRNA 320b-1 Neighboring gene CRISPRi-validated cis-regulatory element chr1.8052

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

Associated conditions

Description Tests
Lacrimal duct defect
MedGen: C1835612 OMIM: 149700 GeneReviews: Not available
Compare labs
Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC117164

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
involved_in lacrimal gland development IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in cell surface HDA PubMed 
is_active_in integral component of membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
immunoglobulin superfamily member 3
Names
glu-Trp-Ile EWI motif-containing protein 3
immunoglobin superfamily, member 3

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_050917.1 RefSeqGene

    Range
    5023..98348
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007237.3NP_001007238.1  immunoglobulin superfamily member 3 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001007238.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AB007935, AI968231, BC110651
    Consensus CDS
    CCDS30813.1
    UniProtKB/Swiss-Prot
    O75054
    Related
    ENSP00000358498.4, ENST00000369486.8
    Conserved Domains (6) summary
    smart00409
    Location:293389
    IG; Immunoglobulin
    pfam07686
    Location:687784
    V-set; Immunoglobulin V-set domain
    pfam13927
    Location:410514
    Ig_3; Immunoglobulin domain
    cd00096
    Location:689692
    Ig; Ig strand A' [structural motif]
    cd00099
    Location:152251
    IgV; Immunoglobulin variable domain (IgV)
    cl11960
    Location:821920
    Ig; Immunoglobulin domain
  2. NM_001542.4NP_001533.2  immunoglobulin superfamily member 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001533.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AB007935, AF031174, AI968231, BC110651
    Consensus CDS
    CCDS30814.1
    UniProtKB/Swiss-Prot
    O75054
    Related
    ENSP00000358495.1, ENST00000369483.5
    Conserved Domains (4) summary
    smart00406
    Location:163247
    IGv; Immunoglobulin V-Type
    smart00410
    Location:707830
    IG_like; Immunoglobulin like
    pfam07686
    Location:707830
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:34141
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    116574398..116667755 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541315.1XP_011539617.1  immunoglobulin superfamily member 3 isoform X2

    See identical proteins and their annotated locations for XP_011539617.1

    UniProtKB/Swiss-Prot
    O75054
    Conserved Domains (4) summary
    smart00406
    Location:163247
    IGv; Immunoglobulin V-Type
    smart00410
    Location:707830
    IG_like; Immunoglobulin like
    pfam07686
    Location:707830
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:34141
    Ig; Immunoglobulin domain
  2. XM_006710593.3XP_006710656.1  immunoglobulin superfamily member 3 isoform X1

    Conserved Domains (4) summary
    smart00406
    Location:168252
    IGv; Immunoglobulin V-Type
    smart00410
    Location:712835
    IG_like; Immunoglobulin like
    pfam07686
    Location:712835
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:39146
    Ig; Immunoglobulin domain
  3. XM_005270794.4XP_005270851.1  immunoglobulin superfamily member 3 isoform X3

    Conserved Domains (4) summary
    smart00406
    Location:168252
    IGv; Immunoglobulin V-Type
    smart00410
    Location:692815
    IG_like; Immunoglobulin like
    pfam07686
    Location:692815
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:39146
    Ig; Immunoglobulin domain
  4. XM_011541316.2XP_011539618.1  immunoglobulin superfamily member 3 isoform X4

    Conserved Domains (3) summary
    smart00410
    Location:150273
    IG_like; Immunoglobulin like
    pfam07686
    Location:150273
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:284395
    Ig; Immunoglobulin domain
Support Center