2. Gene
  3. IGSF3 - immunoglobulin superfamily member 3 Gene

IGSF3 - immunoglobulin superfamily member 3 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as V8; LCDD; EWI-3

Gene ID: 3321 | Gene type: protein coding

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

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%

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS06649 IGSF3 Human Pre-designed siRNA Set A Pre-designed Sets / 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