RIPOR2
Rho family-interacting cell polarization regulator 2
Also known as: C6orf32, DIFF48, FAM65B, KIAA0386, MYONAP, RIPR2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9Y4F9
- Gene
- RIPOR2
- Ensembl
- ENSG00000111913
- Chromosome
- 6
- Canonical length
- 1068 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Cytosol
- Quaternary structure
- Homooligomer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
1068 residues, UniProt reviewed canonical sequence.
>Q9Y4F9|RIPOR2
1 MLVGSQSFSP GGPNGIIRSQ SFAGFSGLQE RRSRCNSFIE NSSALKKPQA KLKKMHNLGH
61 KNNNPPKEPQ PKRVEEVYRA LKNGLDEYLE VHQTELDKLT AQLKDMKRNS RLGVLYDLDK
121 QIKTIERYMR RLEFHISKVD ELYEAYCIQR RLQDGASKMK QAFATSPASK AARESLTEIN
181 RSFKEYTENM CTIEVELENL LGEFSIKMKG LAGFARLCPG DQYEIFMKYG RQRWKLKGKI
241 EVNGKQSWDG EETVFLPLIV GFISIKVTEL KGLATHILVG SVTCETKELF AARPQVVAVD
301 INDLGTIKLN LEITWYPFDV EDMTASSGAG NKAAALQRRM SMYSQGTPET PTFKDHSFFR
361 WLHPSPDKPR RLSVLSALQD TFFAKLHRSR SFSDLPSLRP SPKAVLELYS NLPDDIFENG
421 KAAEEKMPLS LSFSDLPNGD CALTSHSTGS PSNSTNPEIT ITPAEFNLSS LASQNEGMDD
481 TSSASSRNSL GEGQEPKSHL KEEDPEEPRK PASAPSEACR RQSSGAGAEH LFLENDVAEA
541 LLQESEEASE LKPVELDTSE GNITKQLVKR LTSAEVPMAT DRLLSEGSVG GESEGCRSFL
601 DGSLEDAFNG LLLALEPHKE QYKEFQDLNQ EVMNLDDILK CKPAVSRSRS SSLSLTVESA
661 LESFDFLNTS DFDEEEDGDE VCNVGGGADS VFSDTETEKH SYRSVHPEAR GHLSEALTED
721 TGVGTSVAGS PLPLTTGNES LDITIVRHLQ YCTQLVQQIV FSSKTPFVAR SLLEKLSRQI
781 QVMEKLAAVS DENIGNISSV VEAIPEFHKK LSLLSFWTKC CSPVGVYHSP ADRVMKQLEA
841 SFARTVNKEY PGLADPVFRT LVSQILDRAE PLLSSSLSSE VVTVFQYYSY FTSHGVSDLE
901 SYLSQLARQV SMVQTLQSLR DEKLLQTMSD LAPSNLLAQQ EVLRTLALLL TREDNEVSEA
961 VTLYLAAASK NQHFREKALL YYCEALTKTN LQLQKAACLA LKILEATESI KMLVTLCQSD
1021 TEEIRNVASE TLLSLGEDGR LAYEQLDKFP RDCVKVGGRH GTEVATAFLocalizationUniProt · AlphaFold · HPA
Whether an antibody against RIPOR2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.45
- Highest tissue expression
- 77 nTPM
Expression across tissuesHPA
Tissue
- lymph node: 77 nTPM
- tonsil: 67 nTPM
- spleen: 53 nTPM
- endometrium: 49 nTPM
- appendix: 46 nTPM
- thymus: 38 nTPM
Single-cell type
- neutrophils: 7,917 nCPM
- platelets: 2,771 nCPM
- hematopoietic stem cells: 1,117 nCPM
- b-cells: 875 nCPM
- thymocytes: 750 nCPM
- neutrophil progenitors: 719 nCPM
Immune cell
- neutrophil: 956 nTPM
- basophil: 415 nTPM
- eosinophil: 335 nTPM
- memory B-cell: 189 nTPM
- naive B-cell: 177 nTPM
- non-classical monocyte: 175 nTPM
Brain region
- basal ganglia: 58 nTPM
- cerebral cortex: 47 nTPM
- hippocampal formation: 35 nTPM
- midbrain: 33 nTPM
- hypothalamus: 32 nTPM
- amygdala: 26 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about RIPOR2.
Disease | AllUniProt
Conditions RIPOR2 is implicated in, by any mechanism.
- Deafness, autosomal recessive, 104 (DFNB104) MIM:616515
- Deafness, autosomal dominant, 21 (DFNA21) MIM:607017
Disease | GeneticClinVar
2 pathogenic / likely-pathogenic of 528 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Autosomal recessive nonsyndromic hearing loss 104
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.33
- gnomAD pLI
- 0.92
- DepMap mean gene effect
- -0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell adhesion
- cell differentiation
- cellular response to chemokine
- chemotaxis
- muscle organ development
- negative regulation of cell adhesion
- negative regulation of Rho guanyl-nucleotide exchange factor activity
- negative regulation of Rho protein signal transduction
- negative regulation of T cell migration
- negative regulation of T cell proliferation
- positive regulation of filopodium assembly
- positive regulation of myoblast differentiation
- positive regulation of myoblast fusion
- positive regulation of neutrophil chemotaxis
- positive regulation of neutrophil extravasation
- regulation of cell cycle
- regulation of establishment of cell polarity
- regulation of mitotic spindle assembly
- sensory perception of sound
- negative regulation of establishment of T cell polarity
- negative regulation of protein localization to cell leading edge
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of RIPOR2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads RIPOR2 as an antibody target. Whether an autoantibody or antibody against RIPOR2 could matter depends on whether native RIPOR2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
RIPOR2 is annotated at the cell surface, where native RIPOR2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label RIPOR2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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