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This gene encodes a member of the C-type lectin domain containing family. Single nucleotide polymorphisms in introns of this gene have been associated with diabetes mellitus, multiple sclerosis and rheumatoid arthritis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
CLEC16A (C-Type Lectin Domain Containing 16A) is a Protein Coding gene. Diseases associated with CLEC16A include Primary Progressive Multiple Sclerosis and Multiple Sclerosis.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003674 | molecular_function | ND | -- |
GO:0031267 | small GTPase binding | IBA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005764 | lysosome | IEA | -- |
GO:0005765 | lysosomal membrane | IEA | -- |
GO:0005768 | endosome | IEA | -- |
GO:0005770 | colocalizes_with late endosome | IBA | 21873635 |
GO:0005794 | Golgi apparatus | IDA | 28223137 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006914 | autophagy | IEA | -- |
GO:0008333 | endosome to lysosome transport | IBA | 21873635 |
GO:0009267 | cellular response to starvation | IMP | 28223137 |
GO:0016197 | endosomal transport | IBA | 21873635 |
GO:1901096 | regulation of autophagosome maturation | IBA | 21873635 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | · | 23c | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: |
ExUns: | 24 | ^ | 25 | ^ | 26 | ^ | 27a | · | 27b |
---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||
SP2: | |||||||||
SP3: | - | ||||||||
SP4: | |||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CLEC16A 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CLEC16A 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | CLEC16A 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Clec16a 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Clec16a 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | CLEC16A 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CLEC16A 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CLEC16A 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | CLEC16A 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | clec16a 30 |
|
||
Str.6318 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.18966 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | clec16a 30 31 |
|
OneToOne | |
zgc56230 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | ema 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002781 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | gop-1 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 16 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs200082818 | Likely Benign: not provided | 11,003,289(+) |
G/A NM_015226.3(CLEC16A):c.1287G>A (p.Thr429=) |
SYNONYMOUS_VARIANT,INTRON | |
rs45464291 | Benign: not provided | 11,003,298(+) |
G/A NM_015226.3(CLEC16A):c.1296G>A (p.Glu432=) |
SYNONYMOUS_VARIANT,INTRON | |
rs61744103 | Benign: not provided | 11,178,370(+) |
C/T NM_015226.3(CLEC16A):c.2842C>T (p.Leu948Phe) |
MISSENSE | |
rs72650687 | Likely Benign: not provided | 11,166,421(+) |
G/A NM_015226.3(CLEC16A):c.2675G>A (p.Ser892Asn) |
MISSENSE | |
rs72650689 | Likely Benign: not provided | 11,178,473(+) |
G/A NM_015226.3(CLEC16A):c.2945G>A (p.Ser982Asn) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3305974 | CNV | mobile element insertion | 20981092 |
esv3309233 | CNV | mobile element insertion | 20981092 |
esv3375909 | CNV | duplication | 20981092 |
esv3637921 | CNV | gain | 21293372 |
nsv103022 | CNV | deletion | 16902084 |
nsv1037733 | CNV | loss | 25217958 |
nsv1040428 | CNV | gain | 25217958 |
nsv1043915 | CNV | loss | 25217958 |
nsv525548 | CNV | loss | 19592680 |
nsv952919 | CNV | deletion | 24416366 |
nsv952920 | CNV | deletion | 24416366 |
nsv977903 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
primary progressive multiple sclerosis |
|
|
multiple sclerosis |
|
|
immunoglobulin a deficiency 1 |
|
|
trichohepatoenteric syndrome 2 |
|
|
selective immunoglobulin deficiency disease |
|
|