IGSF3 - immunoglobulin superfamily member 3 Gene

Also Known as V8; LCDD; EWI-3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3321

About IGSF3

Cytogenetic location: 1p13.1 Genomic coordinates (GRCh38): 1:116,574,398-116,667,755 (from NCBI)

This gene has 4 transcripts (splice variants), 206 orthologues, 5 paralogues and is associated with 2 phenotypes. Broad expression in esophagus (RPKM 8.2), skin (RPKM 7.8) and 19 other tissues.

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]

IGSF3 Products (2)

mRNA Protein Name
NM_001007237.3 NP_001007238.1 immunoglobulin superfamily member 3 isoform 2 precursor
NM_001542.4 NP_001533.2 immunoglobulin superfamily member 3 isoform 1 precursor

Gene Ontology

  • Biological Process
Biological Process GO Annotation Evidence References Source
involved in lacrimal gland development IMP
IMP: Inferred from mutant phenotype
24372406 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

IGSF3 Protein Structure

V-set

V-set: Immunoglobulin V-set domain (22 - 132)

V-set

V-set: Immunoglobulin V-set domain (151 - 248)

V-set

V-set: Immunoglobulin V-set domain (294 - 385)

V-set

V-set: Immunoglobulin V-set domain (421 - 514)

Ig_2

Ig_2: Immunoglobulin domain (556 - 673)

V-set

V-set: Immunoglobulin V-set domain (681 - 785)

V-set

V-set: Immunoglobulin V-set domain (820 - 921)

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  • 1194 a.a.
Protein Preferred Names Protein Names

immunoglobulin superfamily member 3

  • glu-Trp-Ile EWI motif-containing protein 3

Recombinant IGSF3 Proteins

Cat. No. Product Name Accession Purity
HY-P76412 IGSF3 Protein, Human (HEK293, His) O75054-1 (Q20-A1124) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Lacrimal Duct Defect

  • Nasolacrimal Duct Obstruction

  • Familial Congenital Nasolacrimal Duct Obstruction

  • LCDD

  • Lacrimal Puncta, Absence Of

  • Lacrimal Duct Obstruction
Gastrointestinal Tularemia

  • Enteric Tularemia

  • Intestinal Tularaemia
Lacrimal Duct Obstruction

  • Blocked Lacrimal Canaliculus

  • Obstruction Of Lacrimal Canaliculus

  • Obstruction Of Lacrimal Ducts
Ciliary Dyskinesia, Primary, 5

  • Primary Ciliary Dyskinesia 5

  • CILD5

  • Ciliary Dyskinesia, Primary, 5, Without Situs Inversus

  • Primary Ciliary Dyskinesia 5 Without Situs Inversus

  • Ics5

  • Immotile Cilia Syndrome 5

  • Primary Ciliary Dyskinesia 5 With Or Without Situs Inversus

  • Dyskinesia, Ciliary, Primary, Type 5
Urethral Calculus

  • Calculus In Urethra

  • Urethral Stone

  • Urethrolithiasis

  • Urethra Calculi Impaction

  • Urethra Calculus Impaction

  • Urethra Stone

  • Calculous Urethritis

  • Urethral Calculi Impaction

  • Urethral Calculus Impaction
Osteopetrosis

  • Marble Bone Disease

  • Albers-Schonberg Disease

  • Osteopetroses

  • Marble Bones

  • Osteopetrosis And Related Disorders

  • Congenital Osteopetrosis

  • Marble Bone

  • Albers-Schoenberg Disease

  • Albers-Schonberg Osteopetrosis

  • Osteosclerosis Fragilis

  • Ivory Bones
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS06649 IGSF3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS20426 Igsf3 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS26935 Igsf3 Rat Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus IGSF3 VGNC VGNC:30094
Macaca mulatta IGSF3 VGNC VGNC:73699
Felis catus IGSF3 VGNC VGNC:67747
Rattus norvegicus IGSF3 RGD RGD:1307796
Mus musculus IGSF3 MGD MGI:1926158
Canis familiaris IGSF3 VGNC VGNC:41916
Others IGSF3 NCBI