RIPOR2
entrez
9750
canonical
uniprot
Q9Y4F9
canonical
ensembl
ENSG00000111913
resolver
ensp
ENSP00000259698
resolver
ensp
ENSP00000367262
resolver
ensp
ENSP00000438425
resolver
ensp
ENSP00000441138
resolver
ensp
ENSP00000441305
resolver
ensp
ENSP00000494150
resolver
ensp
ENSP00000494268
resolver
ensp
ENSP00000495879
resolver
ensp
ENSP00000608330
resolver
ensp
ENSP00000657791
resolver
ensp
ENSP00000692400
resolver
enst
ENST00000510784
resolver
enst
ENST00000538035
resolver
enst
ENST00000540914
resolver
enst
ENST00000643898
resolver
enst
ENST00000645100
resolver
enst
ENST00000647136
resolver
enst
ENST00000938271
resolver
genesymbol
RIPOR2
resolver
genesymbol_syn
C6orf32
resolver
genesymbol_syn
DIFF48
resolver
genesymbol_syn
FAM65B
resolver
genesymbol_syn
KIAA0386
resolver
genesymbol_syn
PL48
resolver
hgnc
HGNC:13872
resolver
uniprot
A0A2R8Y7B3
resolver
uniprot
A0A2R8YEE0
resolver
uniprot
A6NHP2
resolver
uniprot
B7Z5J9
resolver
uniprot
B7Z6D6
resolver
uniprot
B7Z6U4
resolver
uniprot
F5GX51
resolver
uniprot
F5H029
resolver
uniprot
F6VJR8
resolver
uniprot
Q13529
resolver
uniprot
Q5VV37
resolver
uniprot
Q5VV38
resolver
uniprot
Q9BQ28
resolver
uniprot_entry
A0A2R8Y7B3_HUMAN
resolver
uniprot_entry
A0A2R8YEE0_HUMAN
resolver
uniprot_entry
B7Z5J9_HUMAN
resolver
uniprot_entry
B7Z6D6_HUMAN
resolver
uniprot_entry
B7Z6U4_HUMAN
resolver
uniprot_entry
F5GX51_HUMAN
resolver
uniprot_entry
F5H029_HUMAN
resolver
uniprot_entry
F6VJR8_HUMAN
resolver
uniprot_entry
RIPR2_HUMAN
resolver
uniprot_sec
A6NHP2
resolver
uniprot_sec
Q13529
resolver
uniprot_sec
Q5VV37
resolver
uniprot_sec
Q5VV38
resolver
uniprot_sec
Q9BQ28
resolver
amino_acid_sequence
MLVGSQSFSPGGPNGIIRSQSFAGFSGLQERRSRCNSFIENSSALKKPQAKLKKMHNLGHKNNNPPKEPQPKRVEEVYRALKNGLDEYLEVHQTELDKLTAQLKDMKRNSRLGVLYDLDKQIKTIERYMRRLEFHISKVDELYEAYCIQRRLQDGASKMKQAFATSPASKAARESLTEINRSFKEYTENMCTIEVELENLLGEFSIKMKGLAGFARLCPGDQYEIFMKYGRQRWKLKGKIEVNGKQSWDGEETVFLPLIVGFISIKVTELKGLATHILVGSVTCETKELFAARPQVVAVDINDLGTIKLNLEITWYPFDVEDMTASSGAGNKAAALQRRMSMYSQGTPETPTFKDHSFFRWLHPSPDKPRRLSVLSALQDTFFAKLHRSRSFSDLPSLRPSPKAVLELYSNLPDDIFENGKAAEEKMPLSLSFSDLPNGDCALTSHSTGSPSNSTNPEITITPAEFNLSSLASQNEGMDDTSSASSRNSLGEGQEPKSHLKEEDPEEPRKPASAPSEACRRQSSGAGAEHLFLENDVAEALLQESEEASELKPVELDTSEGNITKQLVKRLTSAEVPMATDRLLSEGSVGGESEGCRSFLDGSLEDAFNGLLLALEPHKEQYKEFQDLNQEVMNLDDILKCKPAVSRSRSSSLSLTVESALESFDFLNTSDFDEEEDGDEVCNVGGGADSVFSDTETEKHSYRSVHPEARGHLSEALTEDTGVGTSVAGSPLPLTTGNESLDITIVRHLQYCTQLVQQIVFSSKTPFVARSLLEKLSRQIQVMEKLAAVSDENIGNISSVVEAIPEFHKKLSLLSFWTKCCSPVGVYHSPADRVMKQLEASFARTVNKEYPGLADPVFRTLVSQILDRAEPLLSSSLSSEVVTVFQYYSYFTSHGVSDLESYLSQLARQVSMVQTLQSLRDEKLLQTMSDLAPSNLLAQQEVLRTLALLLTREDNEVSEAVTLYLAAASKNQHFREKALLYYCEALTKTNLQLQKAACLALKILEATESIKMLVTLCQSDTEEIRNVASETLLSLGEDGRLAYEQLDKFPRDCVKVGGRHGTEVATAF
uniprot
proteins
disease_involvement
DISEASE: Deafness, autosomal recessive, 104 (DFNB104) [MIM:616515]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:24958875}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Deafness, autosomal dominant, 21 (DFNA21) [MIM:607017]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA21 is an autosomal dominant, progressive form with incomplete penetrance. Age at onset ranges from infancy to late adulthood. {ECO:0000269|PubMed:32631815}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Acts as an inhibitor of the small GTPase RHOA and plays several roles in the regulation of myoblast and hair cell differentiation, lymphocyte T proliferation and neutrophil polarization (PubMed:17150207, PubMed:23241886, PubMed:24687993, PubMed:24958875, PubMed:25588844, PubMed:27556504). Inhibits chemokine-induced T lymphocyte responses, such as cell adhesion, polarization and migration (PubMed:23241886). Involved also in the regulation of neutrophil polarization, chemotaxis and adhesion (By similarity). Required for normal development of inner and outer hair cell stereocilia within the cochlea of the inner ear (By similarity). Plays a role for maintaining the structural organization of the basal domain of stereocilia (By similarity). Involved in mechanosensory hair cell function (By similarity). Required for normal hearing (PubMed:24958875). {ECO:0000250|UniProtKB:Q80U16, ECO:0000269|PubMed:17150207, ECO:0000269|PubMed:23241886, ECO:0000269|PubMed:24687993, ECO:0000269|PubMed:24958875, ECO:0000269|PubMed:27556504}.; FUNCTION: [Isoform 2]: Acts as an inhibitor of the small GTPase RHOA (PubMed:25588844). Plays a role in fetal mononuclear myoblast differentiation by promoting filopodia and myotube formation (PubMed:17150207). Maintains naive T lymphocytes in a quiescent state (PubMed:27556504). {ECO:0000269|PubMed:17150207, ECO:0000269|PubMed:25588844, ECO:0000269|PubMed:27556504}.
uniprot
proteins
mass_dalton
118519
uniprot
proteins
mutagenesis
MUTAGEN 21; /note="S->A: Reduces phosphorylation, interaction with HDAC6, YWHAB and 14-3-3 proteins, localization at the front of the neutrophil upon chemokine stimulation and prevents T cell proliferation inhibition; when associated with A-37; A-341; A-523 and A-585 (isoform 2)."; /evidence="ECO:0000269|PubMed:25588844, ECO:0000269|PubMed:27556504"; MUTAGEN 37; /note="S->A: Reduces phosphorylation, interaction with HDAC6, YWHAB and 14-3-3 proteins, localization at the front of the neutrophil upon chemokine stimulation and prevents T cell proliferation inhibition; when associated with A-21; A-341; A-523 and A-585 (isoform 2)."; /evidence="ECO:0000269|PubMed:25588844, ECO:0000269|PubMed:27556504"; MUTAGEN 151..152; /note="RL->AA: Inhibits interaction with RHOA and does not prevent T cell proliferation inhibition; in isoform 2."; /evidence="ECO:0000269|PubMed:25588844, ECO:0000269|PubMed:27556504"; MUTAGEN 155..156; /note="GA->RR: Inhibits interaction with RHOA; in isoform 2."; /evidence="ECO:0000269|PubMed:25588844, ECO:0000269|PubMed:27556504"; MUTAGEN 341; /note="S->A: Reduces phosphorylation, interaction with HDAC6, YWHAB and 14-3-3 proteins, localization at the front of the neutrophil upon chemokine stimulation and prevents T cell proliferation inhibition; when associated with A-21; A-37; A-523 and A-585 (isoform 2)."; /evidence="ECO:0000269|PubMed:25588844, ECO:0000269|PubMed:27556504"; MUTAGEN 523; /note="S->A: Reduces phosphorylation, interaction with HDAC6, YWHAB and 14-3-3 proteins, localization at the front of the neutrophil upon chemokine stimulation and prevents T cell proliferation inhibition; when associated with A-21; A-37; A-341 and A-585 (isoform 2)."; /evidence="ECO:0000269|PubMed:25588844, ECO:0000269|PubMed:27556504"; MUTAGEN 585; /note="S->A: Reduces phosphorylation, interaction with HDAC6, YWHAB and 14-3-3 proteins, localization at the front of the neutrophil upon chemokine stimulation and prevents T cell proliferation inhibition; when associated with A-21; A-37; A-341 and A-523 (isoform 2)."; /evidence="ECO:0000269|PubMed:25588844, ECO:0000269|PubMed:27556504
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. Isoform 2 is phosphorylated in T cells (PubMed:27556504). Chemokine-induced phosphorylation of isoform 2 in neutrophils occurs in a PKC- and AKT-dependent manner, resulting in RIPOR2 interaction with YWHAB and stabilization (PubMed:25588844). Isoform 2 is phosphorylated by PKCA, AKT1 and MAPKAPK1A; in vitro (PubMed:25588844). {ECO:0000269|PubMed:25588844, ECO:0000269|PubMed:27556504}.; PTM: Acetylated during myogenic differentiation. {ECO:0000269|PubMed:24687993}.
uniprot
proteins
protein_family
RIPOR family
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17150207
uniprot
proteins
pubmed
19367720
uniprot
proteins
pubmed
23241886
uniprot
proteins
pubmed
24687993
uniprot
proteins
pubmed
24958875
uniprot
proteins
pubmed
25588844
uniprot
proteins
pubmed
27556504
uniprot
proteins
pubmed
32631815
uniprot
proteins
pubmed
9055809
uniprot
proteins
pubmed
9205841
uniprot
proteins
sequence_length
1068
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:17150207, ECO:0000269|PubMed:23241886}. Cytoplasm, cytoskeleton {ECO:0000269|PubMed:17150207}. Cell projection, filopodium {ECO:0000269|PubMed:17150207}. Cell projection, stereocilium {ECO:0000250|UniProtKB:Q80U16}. Cell projection, stereocilium membrane {ECO:0000250|UniProtKB:Q7TP54}. Apical cell membrane {ECO:0000250|UniProtKB:Q7TP54}. Note=Localized in the cytoplasm in cells undergoing mitosis (PubMed:17150207). Colocalized with F-actin (PubMed:17150207). Localized with RHOC within the basal domain of hair cell stereocilia, near the taper region (By similarity). Detected in punctate pattern forming a circumferential ring at the stereocilia base (By similarity). Localized to the apical stereocilia of inner and outer hair cells (By similarity). Not detected as a membrane-associated protein in stereocilia (By similarity). {ECO:0000250|UniProtKB:Q7TP54, ECO:0000250|UniProtKB:Q80U16, ECO:0000269|PubMed:17150207}.; SUBCELLULAR LOCATION: [Isoform 1]: Cytoplasm {ECO:0000269|PubMed:24687993}.; SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm {ECO:0000269|PubMed:25588844}. Note=Accumulates at the leading edge of polarized neutrophils in a chemokine-dependent manner (PubMed:25588844). {ECO:0000269|PubMed:25588844}.
uniprot
proteins