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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 (Immunoglobulin Superfamily Member 3) is a Protein Coding gene. Diseases associated with IGSF3 include Lacrimal Duct Defect and Gastrointestinal Tularemia. An important paralog of this gene is CD101.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0009986 | cell surface | HDA | 19581412 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0032808 | lacrimal gland development | IMP | 24372406 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IGSF3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IGSF3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IGSF3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Igsf3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Igsf3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | IGSF3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IGSF3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IGSF3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IGSF3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | igsf3 30 |
|
||
Str.5486 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.16592 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:ch211-247j6.1 30 |
|
||
IGSF3 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
915339 | Pathogenic: not provided | 116,600,246(-) |
C/T NM_001007237.3(IGSF3):c.1724G>A (p.Trp575Ter) |
NONSENSE | |
rs1571118438 | Likely Benign: not provided | 116,584,943(-) |
G/T NM_001007237.3(IGSF3):c.2550C>A (p.Leu850=) |
SYNONYMOUS | |
rs190300523 | Uncertain Significance: Pyloric stenosis; Esophageal atresia | 116,600,129(-) |
C/A NM_001007237.3(IGSF3):c.1841G>T (p.Arg614Leu) |
MISSENSE | |
rs191438836 | Benign: not provided | 116,608,234(-) |
G/A NM_001007237.3(IGSF3):c.930C>T (p.Pro310=) |
SYNONYMOUS | |
rs199596005 | Likely Benign: not provided | 116,600,213(-) |
G/A NM_001007237.3(IGSF3):c.1757C>T (p.Pro586Leu) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv85e212 | CNV | loss | 25503493 |
esv2758963 | CNV | gain+loss | 17122850 |
esv28283 | CNV | gain+loss | 19812545 |
esv32882 | CNV | gain | 17666407 |
esv33190 | CNV | gain+loss | 17666407 |
esv3578131 | CNV | loss | 25503493 |
nsv10661 | CNV | gain+loss | 18304495 |
nsv1116609 | CNV | tandem duplication | 24896259 |
nsv428190 | CNV | gain | 18775914 |
nsv482103 | CNV | gain | 20164927 |
nsv824309 | CNV | gain | 20364138 |
nsv831148 | CNV | gain | 17160897 |
nsv945587 | CNV | duplication | 23825009 |
nsv945588 | CNV | duplication | 23825009 |
nsv946165 | CNV | duplication | 23825009 |
nsv946166 | CNV | duplication | 23825009 |
nsv946167 | CNV | duplication | 23825009 |
nsv946168 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
lacrimal duct defect |
|
|
gastrointestinal tularemia |
|
|
lacrimal duct obstruction |
|
|
urethral calculus |
|
|
bardet-biedl syndrome 1 |
|
|