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RFLNA (Refilin A) is a Protein Coding gene. Diseases associated with RFLNA include Spondylocarpotarsal Synostosis Syndrome. An important paralog of this gene is RFLNB.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 25416956 |
GO:0031005 | filamin binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0032432 | actin filament bundle | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0048705 | skeletal system morphogenesis | IBA | 21873635 |
GO:0061181 | regulation of chondrocyte development | IEA | -- |
GO:0061182 | negative regulation of chondrocyte development | IBA | 21873635 |
GO:0061572 | actin filament bundle organization | IBA | 21873635 |
GO:1900158 | negative regulation of bone mineralization involved in bone maturation | IBA | 21873635 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | FAM101A 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | FAM101A 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | FAM101A 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Fam101a 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Fam101a 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | FAM101A 33 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | FAM101A 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | FAM101A 33 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | FAM101A 33 |
|
OneToOne | |
zebrafish (Danio rerio) |
Actinopterygii | fam101a 33 |
|
OneToOne |
SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1000016756 | -- | 124,300,329(+) | A/G | intron_variant | |
rs1000031217 | -- | 124,305,210(+) | C/T | intron_variant | |
rs1000048144 | -- | 124,310,723(+) | T/C | intron_variant | |
rs1000185738 | -- | 124,295,462(+) | G/A | coding_sequence_variant, intron_variant, synonymous_variant | |
rs1000249135 | -- | 124,290,142(+) | A/G | genic_upstream_transcript_variant, intron_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1202818 | CNV | insertion | 17803354 |
esv2669580 | CNV | deletion | 23128226 |
esv2746520 | CNV | deletion | 23290073 |
esv2746521 | CNV | deletion | 23290073 |
esv3549931 | CNV | deletion | 23714750 |
esv3631010 | CNV | gain | 21293372 |
esv3631011 | CNV | gain | 21293372 |
esv3631012 | CNV | gain | 21293372 |
esv3631013 | CNV | loss | 21293372 |
nsv1145637 | CNV | deletion | 24896259 |
nsv470322 | CNV | loss | 18288195 |
nsv53622 | CNV | deletion | 16902084 |
nsv560539 | CNV | loss | 21841781 |
nsv818930 | CNV | gain | 17921354 |
nsv952500 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spondylocarpotarsal synostosis syndrome |
|
|