Free for academic non-profit institutions. Other users need a Commercial license
EMID1 (EMI Domain Containing 1) is a Protein Coding gene. Diseases associated with EMID1 include Breast Cancer and Fanconi Anemia, Complementation Group L. An important paralog of this gene is COL5A2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | IEA | -- |
GO:0005581 | collagen trimer | IEA | -- |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005794 | Golgi apparatus | IEA | -- |
GO:0031012 | extracellular matrix | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | ||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EMID1 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Emid1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Emid1 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EMID1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EMID1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EMID1 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EMID1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EMID1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | emid1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68894 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | emid1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs78400471 | Benign: not provided | 29,231,588(+) |
C/G NM_133455.4(EMID1):c.587-5C>G |
INTRON | |
rs743920 | - |
p.Ala107Gly |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1772608 | CNV | deletion | 17803354 |
esv22026 | CNV | loss | 19812545 |
esv2673780 | CNV | deletion | 23128226 |
esv2724121 | CNV | deletion | 23290073 |
esv2724122 | CNV | deletion | 23290073 |
esv275243 | CNV | gain+loss | 21479260 |
esv3558040 | CNV | deletion | 23714750 |
esv3647527 | CNV | loss | 21293372 |
nsv1072208 | CNV | deletion | 25765185 |
nsv1132574 | CNV | duplication | 24896259 |
nsv436349 | CNV | deletion | 17901297 |
nsv519651 | CNV | loss | 19592680 |
nsv522714 | CNV | loss | 19592680 |
nsv524483 | CNV | loss | 19592680 |
nsv829154 | CNV | gain | 20364138 |
nsv834171 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
breast cancer |
|
|
fanconi anemia, complementation group l |
|
|