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MFSD12 (Major Facilitator Superfamily Domain Containing 12) is a Protein Coding gene. Diseases associated with MFSD12 include Dermatosis Papulosa Nigra and Brain Compression. An important paralog of this gene is MFSD2B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005215 | transporter activity | IBA | 21873635 |
GO:0015293 | symporter activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005765 | lysosomal membrane | HDA | 17897319 |
GO:0005770 | late endosome | IDA | 29025994 |
GO:0005887 | integral component of plasma membrane | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008643 | carbohydrate transport | IEA | -- |
GO:0048022 | negative regulation of melanin biosynthetic process | IEA | -- |
GO:0055085 | transmembrane transport | IEA | -- |
GO:0071702 | organic substance transport | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | · | 10c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||
SP2: | - | ||||||||||||||||||||||||||||
SP3: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | MFSD12 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MFSD12 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MFSD12 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mfsd12 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mfsd12 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | MFSD12 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | MFSD12 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | C28H19ORF28 30 |
|
||
MFSD12 31 |
|
OneToOne | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mfsd12 30 |
|
||
Str.19055 30 |
|
||||
Zebrafish (Danio rerio) |
Actinopterygii | mfsd12a 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011492 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | F16H11.1 30 31 |
|
OneToOne | |
Rice (Oryza sativa) |
Liliopsida | Os03g0168000 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
786962 | Benign: not provided | 3,544,876(-) | G/A | SYNONYMOUS_VARIANT | |
rs10424065 | Benign: MFSD12 POLYMORPHISM | 3,545,024(-) | C/T | INTRON_VARIANT | |
rs34196068 | Benign: not specified | 3,543,480(-) | G/GC | INTRON_VARIANT | |
rs10414812 | - | p.Arg243His | |||
rs2240751 | - | p.Tyr182His |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1009517 | CNV | insertion | 20482838 |
esv1722786 | CNV | insertion | 17803354 |
nsv1129615 | CNV | tandem duplication | 24896259 |
nsv470114 | CNV | loss | 18288195 |
nsv953948 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
dermatosis papulosa nigra |
|
|
brain compression |
|
|