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This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]
POPDC3 (Popeye Domain Containing 3) is a Protein Coding gene. Diseases associated with POPDC3 include Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 and Malignant Glioma. An important paralog of this gene is POPDC2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003674 | molecular_function | ND | -- |
GO:0030552 | cAMP binding | IBA,ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | IEA,IBA | 21873635 |
GO:0016021 | integral component of membrane | NAS | 10882522 |
GO:0042383 | sarcolemma | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007507 | heart development | IBA | 21873635 |
GO:0007519 | skeletal muscle tissue development | IBA | 21873635 |
GO:0008150 | biological_process | ND | -- |
GO:0042391 | regulation of membrane potential | IEA,ISS | -- |
GO:0051146 | striated muscle cell differentiation | IBA | 21873635 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | · | 7d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||
SP3: | - | - | - | - | - | ||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||
SP5: | - | - | - | ||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||
SP7: | - | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | POPDC3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | POPDC3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | POPDC3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Popdc3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Popdc3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | POPDC3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | POPDC3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | POPDC3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | POPDC3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | popdc3 30 |
|
||
Str.19727 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | popdc3 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | bves 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
716895 | Benign: not provided | 105,161,515(-) | C/T | MISSENSE_VARIANT | |
778249 | Benign: not provided | 105,159,789(-) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
778250 | Benign: not provided | 105,161,898(-) | A/G | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
869186 | Pathogenic: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 | 105,158,564(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
869187 | Pathogenic: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 26 | 105,161,446(-) | A/T | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2665928 | CNV | deletion | 23128226 |
esv2759461 | CNV | gain | 17122850 |
esv3540257 | CNV | deletion | 23714750 |
esv3610253 | CNV | loss | 21293372 |
nsv604437 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
muscular dystrophy, limb-girdle, autosomal recessive 26 |
|
|
malignant glioma |
|
|
autosomal recessive limb-girdle muscular dystrophy type 2x |
|
|
muscular dystrophy |
|
|