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This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016]
RIPOR2 (RHO Family Interacting Cell Polarization Regulator 2) is a Protein Coding gene. Diseases associated with RIPOR2 include Deafness, Autosomal Recessive 104 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. An important paralog of this gene is RIPOR1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21988832 |
GO:0042802 | identical protein binding | IEA | -- |
GO:0071889 | 14-3-3 protein binding | IDA | 24687993 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA,IDA | 17150207 |
GO:0005856 | cytoskeleton | IEA,IDA | 17150207 |
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016324 | apical plasma membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006935 | chemotaxis | IEA | -- |
GO:0007155 | cell adhesion | IEA | -- |
GO:0007162 | negative regulation of cell adhesion | ISS | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007517 | muscle organ development | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FAM65B 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FAM65B 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FAM65B 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fam65b 30 31 |
|
OneToOne | |
Ripor2 17 |
|
||||
Rat (Rattus norvegicus) |
Mammalia | Fam65b 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | FAM65B 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FAM65B 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FAM65B 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FAM65B 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fam65b 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fam65b 30 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | C27H2.2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
768068 | Benign: not provided | 24,825,283(-) |
A/. NM_001286445.3(RIPOR2):c.2811= (p.Ser937=) |
NO_SEQUENCE_ALTERATION | |
929887 | Likely Benign: not specified | 24,875,774(-) |
C/T NM_001286445.3(RIPOR2):c.105G>A (p.Gln35=) |
SYNONYMOUS | |
994448 | Uncertain Significance: not provided | 24,840,694(-) |
C/A NM_001286445.3(RIPOR2):c.1858-1422G>T |
THREE_PRIME_UTR_VARIANT,INTRON | |
994449 | Likely Benign: not provided | 24,828,210(-) |
G/A NM_001286445.3(RIPOR2):c.2592C>T (p.Phe864=) |
SYNONYMOUS | |
rs1027484347 | Likely Benign: not specified | 24,847,659(-) |
C/T NM_001286445.3(RIPOR2):c.1164+366G>A |
SYNONYMOUS_VARIANT,INTRON |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, autosomal recessive 104 |
|
|
autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
deafness, autosomal dominant 17 |
|
|
dyslexia |
|
|
amusia |
|
|