Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a nuclear protein that belongs to a family proteins that contain an RNA-binding motif. The encoded protein associates with hnRNP proteins and may be involved in regulating alternative splicing. Defects in this gene are the cause of the X-linked recessive disorder, TARP syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2011]
RBM10 (RNA Binding Motif Protein 10) is a Protein Coding gene. Diseases associated with RBM10 include Tarp Syndrome and Skin Angiosarcoma. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and identical protein binding. An important paralog of this gene is RBM5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | IEA,IBA | 21873635 |
GO:0005515 | protein binding | IPI | 22365833 |
GO:0035198 | miRNA binding | IDA | 28431233 |
GO:0042802 | identical protein binding | IPI | 22365833 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | 28091594 |
GO:0016607 | nuclear speck | IDA | -- |
GO:0032991 | protein-containing complex | IPI | 17707232 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0000381 | regulation of alternative mRNA splicing, via spliceosome | IEA | -- |
GO:0000398 | mRNA splicing, via spliceosome | IBA | 21873635 |
GO:0006397 | mRNA processing | IEA | -- |
GO:0008150 | biological_process | ND | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15 | ^ | 16 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: |
ExUns: | 17a | · | 17b | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21a | · | 21b | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ | 25 | ^ | 26a | · | 26b | ^ | 27 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||
SP11: | |||||||||||||||||||||||||||||||
SP12: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | RBM10 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | RBM10 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Rbm10 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Rbm10 30 |
|
||
Chimpanzee (Pan troglodytes) |
Mammalia | RBM10 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | RBM10 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | RBM10 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | RBM10 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | LOC101882554 30 |
|
||
rbm10 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG4896 30 31 32 |
|
ManyToMany | |
CG4887 31 |
|
ManyToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP008577 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | T08B2.5 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
689369 | Likely Pathogenic: Microcephaly; Intellectual disability | 47,171,179(+) | AGGAG/A | FRAMESHIFT_VARIANT,INTRON_VARIANT | |
689781 | Pathogenic: TARP syndrome | 47,179,165(+) | T/C | SPLICE_DONOR_VARIANT | |
715386 | Likely Benign: not provided | 47,185,570(+) | A/T | SYNONYMOUS_VARIANT | |
718580 | Benign: not provided | 47,171,186(+) | TGAG/T | INFRAME_DELETION,INTRON_VARIANT | |
719274 | Benign: not provided | 47,181,607(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2740135 | CNV | deletion | 23290073 |
esv2740136 | CNV | deletion | 23290073 |
esv3348711 | CNV | insertion | 20981092 |
nsv6886 | CNV | deletion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
tarp syndrome |
|
|
skin angiosarcoma |
|
|
tumor of exocrine pancreas |
|
|
atrial heart septal defect |
|
|
renal cell carcinoma, papillary, 1 |
|
|