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RETREG3 (Reticulophagy Regulator Family Member 3) is a Protein Coding gene. Diseases associated with RETREG3 include Neuropathy, Hereditary Sensory And Autonomic, Type Iib and Neuropathy, Hereditary Sensory And Autonomic, Type Iia.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0032991 | protein-containing complex | IDA | 28246125 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0010976 | positive regulation of neuron projection development | IEA,IMP | 23939472 |
GO:0061709 | reticulophagy | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FAM134C 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FAM134C 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FAM134C 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fam134c 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fam134c 30 31 |
|
OneToOne | |
Retreg3 17 |
|
||||
Oppossum (Monodelphis domestica) |
Mammalia | FAM134C 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FAM134C 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FAM134C 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FAM134C 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fam134c 30 |
|
||
Str.6330 30 |
|
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African clawed frog (Xenopus laevis) |
Amphibia | Xl.30959 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fam134c 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs148592159 | Benign: not provided | 42,609,335(-) |
C/A NM_178126.4(RETREG3):c.-11G>T |
NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv33998 | OTHER | inversion | 15654335 |
nsv1064012 | CNV | gain | 25217958 |
nsv1113874 | CNV | deletion | 24896259 |
nsv1146669 | OTHER | inversion | 26484159 |
Disorder | Aliases | PubMed IDs |
---|---|---|
neuropathy, hereditary sensory and autonomic, type iib |
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neuropathy, hereditary sensory and autonomic, type iia |
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|
ectodermal dysplasia 4, hair/nail type |
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mitochondrial dna depletion syndrome 4a |
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