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This gene encodes a transmembrane protein. A missense mutation in this gene result in Nanophthalmos 4 (NNO4). Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2014]
TMEM98 (Transmembrane Protein 98) is a Protein Coding gene. Diseases associated with TMEM98 include Nanophthalmos 4 and Microphthalmia.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | IDA,IEA | 25946230 |
GO:0005783 | endoplasmic reticulum | IDA | -- |
GO:0005789 | endoplasmic reticulum membrane | IEA | -- |
GO:0005886 | plasma membrane | IEA,IDA | 25946230 |
GO:0016020 | membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0010955 | negative regulation of protein processing | IEA | -- |
GO:0031642 | negative regulation of myelination | IEA,ISS | -- |
GO:0045063 | T-helper 1 cell differentiation | ISS,IEA | -- |
GO:0048715 | negative regulation of oligodendrocyte differentiation | IEA,ISS | -- |
GO:1900181 | negative regulation of protein localization to nucleus | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | TMEM98 33 32 |
|
OneToOne | |
oppossum (Monodelphis domestica) |
Mammalia | TMEM98 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | TMEM98 33 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | TMEM98 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | TMEM98 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Tmem98 32 |
|
||
mouse (Mus musculus) |
Mammalia | Tmem98 17 33 32 |
|
||
lizard (Anolis carolinensis) |
Reptilia | TMEM98 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | tmem98 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | tmem98 33 32 |
|
OneToOne | |
worm (Caenorhabditis elegans) |
Secernentea | K10C3.4 33 |
|
OneToOne |
SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs587777690 | pathogenic, Nanophthalmos 4, Nanophthalmos 4 (NNO4) [MIM:615972] | 32,940,889(+) | G/C/T | coding_sequence_variant, missense_variant | |
rs869312733 | pathogenic, Nanophthalmos 4, Nanophthalmos 4 (NNO4) [MIM:615972] | 32,940,899(+) | A/C | coding_sequence_variant, missense_variant | |
rs869312734 | pathogenic, Nanophthalmos 4 | 32,933,276(+) | GGAGAATGAAGACTGGATCGAAGATGCCTCGTAAGG/GG | coding_sequence_variant, intron_variant, splice_donor_variant | |
rs1000161412 | -- | 32,930,578(+) | C/A/T | intron_variant | |
rs1000300782 | -- | 32,942,065(+) | A/G | 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant |
Disorder | Aliases | PubMed IDs |
---|---|---|
nanophthalmos 4 |
|
|
microphthalmia |
|
|
farsightedness |
|
|
cervical adenosquamous carcinoma |
|
|