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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,... See more...
Aliases for RIPOR2 Gene
Aliases for RIPOR2 Gene
External Ids for RIPOR2 Gene
- HGNC: 13872
- NCBI Entrez Gene: 9750
- Ensembl: ENSG00000111913
- OMIM®: 611410
- UniProtKB/Swiss-Prot: Q9Y4F9
Previous HGNC Symbols for RIPOR2 Gene
- C6orf32
- FAM65B
Summaries for RIPOR2 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]
GeneCards Summary for RIPOR2 Gene
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.
UniProtKB/Swiss-Prot Summary for RIPOR2 Gene
-
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:24687993, PubMed:23241886, 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).
-
[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).
Additional gene information for RIPOR2 Gene
- HGNC (13872)
- NCBI Entrez Gene (9750)
- Ensembl (ENSG00000111913)
- OMIM® (611410)
- UniProtKB/Swiss-Prot (Q9Y4F9)
- Open Targets Platform(ENSG00000111913)
- Monarch Initiative
- Search for RIPOR2 at DataMed
- Search for RIPOR2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RIPOR2 Gene
Genomics for RIPOR2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for RIPOR2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around RIPOR2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RIPOR2
Genomic Locations for RIPOR2 Gene
Latest Assembly
- chr6:24,804,282-25,042,288
- (GRCh38/hg38)
- Size:
- 238,007 bases
- Orientation:
- Minus strand
Previous Assembly
- chr6:24,804,512-25,042,396
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 237,885 bases
- Orientation:
- Minus strand
- chr6:24,797,601-25,042,238
- (GRCh37/hg19 by Ensembl)
- Size:
- 244,638 bases
- Orientation:
- Minus strand
Genomic View for RIPOR2 Gene
Genes around RIPOR2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p22.3 by HGNC
- 6p22.3 by Entrez Gene
- 6p22.3 by Ensembl
RIPOR2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RIPOR2 Gene
Proteins for RIPOR2 Gene
-
Protein details for RIPOR2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y4F9-RIPR2_HUMAN
- Recommended name:
- Rho family-interacting cell polarization regulator 2
- Protein Accession:
- Q9Y4F9
- A6NHP2
- Q13529
- Q5VV37
- Q5VV38
- Q9BQ28
Protein attributes for RIPOR2 Gene
- Size:
- 1068 amino acids
- Molecular mass:
- 118519 Da
- Quaternary structure:
-
- Homooligomer; homooligomerization is regulated by RHOC and leads to the formation of concatemers through the association of N- and C-termini (By similarity). Interacts with 14-3-3 proteins; these interactions occur during myogenic cell differentiation (PubMed:24687993). Interacts with HDAC6; this interaction occurs during early myogenic differentiation and prevents HDAC6 to deacetylate tubulin (PubMed:24687993). Interacts with DYSF; this interaction occurs during early myogenic differentiation (PubMed:24687993). Interacts with MYOF (PubMed:24687993). Interacts with RHOC (By similarity). Isoform 1 and isoform 2 interact (via active GTP- or inactive GDP-bound forms) with RHOA; these interactions are direct, block the loading of GTP to RHOA and decrease upon chemokine CCL19 stimulation in primary T lymphocytes (PubMed:23241886, PubMed:25588844). Isoform 2 interacts (phosphorylated form) with HDAC6; this interaction induces T cell proliferation arrest (PubMed:27556504). Isoform 2 interacts (phosphorylated form) with 14-3-3 proteins; these interactions induces T cell proliferation arrest (PubMed:27556504). Isoform 2 interacts with 14-3-3 proteins (PubMed:25588844). Isoform 2 interacts (via phosphorylated form) with YWHAB; this interaction occurs in a chemokine-dependent manner and does not compete for binding of RIPOR2 with RHOA nor blocks inhibition of RIPOR2-mediated RHOA activity (PubMed:25588844). Isoform 2 interacts with YWHAE (PubMed:25588844). Isoform 2 interacts with YWHAQ (PubMed:25588844).
- SequenceCaution:
-
- Sequence=AAC51134.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAA20840.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
- Miscellaneous:
-
- Cells lacking isoform 2 exhibit a severe reduction of myotube formation. In contrast, isoform 2 overexpression induces formation of filopodia.
Post-translational modifications for RIPOR2 Gene
- 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).
- Acetylated during myogenic differentiation.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for RIPOR2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ FAM65B Antibody
- Novus Biologicals Antibodies for RIPOR2
- Invitrogen Antibodies for RIPOR2 (AFLGC-Ripor2)
-
Boster Bio Antibodies for RIPOR2
-
Custom Antibody ServicesProSci Antibodies for RIPOR2
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for RIPOR2
- Origene Custom Protein Services for RIPOR2
-
Abcam proteins for RIPOR2
Assay products for research
No data available for DME Specific Peptides for RIPOR2 Gene
Domains & Families for RIPOR2 Gene
Gene Families for RIPOR2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for RIPOR2 Gene
Suggested Antigen Peptide Sequences for RIPOR2 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ56038 (B7Z6U4_HUMAN)
- Protein FAM65B (FA65B_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9Y4F9- Family:
-
- Belongs to the RIPOR family.
Function for RIPOR2 Gene
Molecular function for RIPOR2 Gene
- UniProtKB/Swiss-Prot 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:24687993, PubMed:23241886, 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).
- UniProtKB/Swiss-Prot 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).
- UniProtKB/Swiss-Prot Induction:
- Up-regulated during fetal mononuclear myoblast differentiation (PubMed:17150207, PubMed:24687993). Up-regulated during cytotrophoblast differentiation (PubMed:9055809). Up-regulated during granulocyte differentiation (PubMed:9055809). Isoform 1 and isoform 2 are down-regulated in T lymphocytes upon T-cell antigen receptor (TCR) stimulation (PubMed:27556504). Isoform 1 and isoform 2 are up-regulated by FOXO1 (PubMed:23241886).
Phenotypes From GWAS Catalog for RIPOR2 Gene
| 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 |
Phenotypes for RIPOR2 Gene
- MGI mutant phenotypes for RIPOR2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for RIPOR2:
Animal Models for RIPOR2 Gene
- MGI Knock Outs for RIPOR2:
-
- Ripor2 Ripor2<tm1(KOMP)Vlcg>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RIPOR2 - Starting at $85 >
- * RIPOR2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RIPOR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RIPOR2
miRNA for RIPOR2 Gene
- miRTarBase miRNAs that target RIPOR2
-
- hsa-miR-124-3p (MIRT022201)
- hsa-miR-374a-5p (MIRT440675)
- mmu-miR-706 (MIRT593497)
- mmu-miR-10b-5p (MIRT593498)
- mmu-miR-10a-5p (MIRT593499)
- mmu-miR-339-5p (MIRT593500)
- mmu-miR-290a-5p (MIRT593501)
- mmu-miR-292a-5p (MIRT593502)
- mmu-miR-532-5p (MIRT606426)
- mmu-miR-511-5p (MIRT606427)
- mmu-miR-3079-5p (MIRT606428)
- mmu-miR-1935 (MIRT606429)
- mmu-miR-298-5p (MIRT606430)
- mmu-miR-709 (MIRT606431)
- hsa-miR-4674 (MIRT658346)
- hsa-miR-4314 (MIRT658347)
- hsa-miR-6749-3p (MIRT658348)
- hsa-miR-1260b (MIRT658349)
- hsa-miR-1260a (MIRT658350)
- hsa-miR-4437 (MIRT658351)
- hsa-miR-6778-3p (MIRT658352)
- hsa-miR-378g (MIRT658353)
- hsa-miR-4486 (MIRT658354)
- hsa-miR-6860 (MIRT658355)
- hsa-miR-612 (MIRT658356)
- hsa-miR-5189-5p (MIRT658357)
- hsa-miR-3187-5p (MIRT658358)
- hsa-miR-1285-3p (MIRT658359)
- hsa-miR-532-3p (MIRT658360)
- hsa-miR-1224-3p (MIRT658361)
- hsa-miR-6877-3p (MIRT658362)
- hsa-miR-6819-3p (MIRT658363)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RIPOR2
- Browse OriGene Inhibitory RNA Products For RIPOR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIPOR2
Clone products for research
- Applied Biological Materials (abm): Clones for RIPOR2 - Starting at $45 >
- * RIPOR2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG222772
- MG222773
- MG222774
- MR222772
- MR222772L3
- MR222772L4
- MR222773
- MR222773L3
- MR222773L4
- MR222774
- MR222774L3
- MR222774L4
- MR230659
- MR231527
- RC201468
- RC201468L3
- RC201468L4
- RC226316
- RC226316L3
- RC226316L4
- RC239088
- RC239193
- RC239912
- RG201468
- RG226316
- RR212367
- MR222772L3V
- MR222772L4V
- MR222773L3V
- MR222773L4V
- MR222774L3V
- MR222774L4V
- RC201468L3V
- RC201468L4V
- RC226316L3V
- RC226316L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RIPOR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RIPOR2
Cell Lines for research
-
Horizon Cell Lines for RIPOR2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RIPOR2 Gene
Localization for RIPOR2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RIPOR2 Gene
- Cytoplasm. Cytoplasm, cytoskeleton. Cell projection, filopodium. Cell projection, stereocilium. Cell projection, stereocilium membrane. Apical cell membrane. 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}.
- [Isoform 1]: Cytoplasm.
- [Isoform 2]: Cytoplasm. Note=Accumulates at the leading edge of polarized neutrophils in a chemokine-dependent manner (PubMed:25588844). {ECO:0000269 PubMed:25588844}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| plasma membrane | 4 |
| nucleus | 2 |
| cytosol | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 0 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for RIPOR2 Gene
Pathways & Interactions for RIPOR2 Gene
Interacting Proteins for RIPOR2 Gene
Selected Interacting proteins:
Q9Y4F9-RIPR2_HUMAN
ENSP00000482957
for RIPOR2 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for RIPOR2
| 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 | -- |
No data available for Pathways by source and SIGNOR curated interactions for RIPOR2 Gene
Transcripts for RIPOR2 Gene
mRNA/cDNA for RIPOR2 Gene
- 7 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000259698 5553 nts (view in UCSC)
- ENST00000378023 2442 nts (view in UCSC)
- ENST00000463828 803 nts (view in UCSC)
- ENST00000473070 779 nts (view in UCSC)
- ENST00000510784 3381 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for RIPOR2 - Starting at $85 >
- * RIPOR2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for RIPOR2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RIPOR2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RIPOR2
- Browse OriGene Inhibitory RNA Products For RIPOR2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIPOR2
Clone products for research
- Applied Biological Materials (abm): Clones for RIPOR2 - Starting at $45 >
- * RIPOR2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG222772
- MG222773
- MG222774
- MR222772
- MR222772L3
- MR222772L4
- MR222773
- MR222773L3
- MR222773L4
- MR222774
- MR222774L3
- MR222774L4
- MR230659
- MR231527
- RC201468
- RC201468L3
- RC201468L4
- RC226316
- RC226316L3
- RC226316L4
- RC239088
- RC239193
- RC239912
- RG201468
- RG226316
- RR212367
- MR222772L3V
- MR222772L4V
- MR222773L3V
- MR222773L4V
- MR222774L3V
- MR222774L4V
- RC201468L3V
- RC201468L4V
- RC226316L3V
- RC226316L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for RIPOR2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RIPOR2
Relevant External Links for RIPOR2 Gene
- GeneLoc Exon Structure for
- RIPOR2
Expression for RIPOR2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RIPOR2
mRNA Expression by UniProt/SwissProt for RIPOR2 Gene:
Q9Y4F9-RIPR2_HUMAN
Tissue specificity:
Expressed in primary fetal mononuclear myoblast (PubMed:17150207). Expressed strongly in naive T lymphocytes (PubMed:27556504). Expressed weakly in activated T lymphocytes (at protein level) (PubMed:27556504). Expressed in blood cells and adult tissues of hematopoietic origin, such as the secondary lymphoid organs (PubMed:23241886). Expressed in cytotrophoblast (PubMed:9055809).
Evidence on tissue expression from TISSUES for RIPOR2 Gene
- Blood(4.8)
- Nervous system(4.6)
- Spleen(2.4)
- Lymph node(2.2)
- Muscle(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for RIPOR2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- head
- inner ear
- middle ear
- outer ear
- skull
General:
- peripheral nerve
- peripheral nervous system
Primer products for research
-
OriGene qPCR primer pairs for RIPOR2
No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for RIPOR2 Gene
Orthologs for RIPOR2 Gene
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 |
- Species where no ortholog for RIPOR2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for RIPOR2 Gene
- ENSEMBL:
- Gene Tree for RIPOR2 (if available)
- TreeFam:
- Gene Tree for RIPOR2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RIPOR2: view image
Paralogs for RIPOR2 Gene
Variants for RIPOR2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RIPOR2 Gene
| 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 |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.27;
88.18% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RIPOR2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIPOR2 Gene
Disorders for RIPOR2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, autosomal recessive 104 |
|
|
| autosomal recessive non-syndromic sensorineural deafness type dfnb |
|
|
| deafness, autosomal dominant 17 |
|
|
| dyslexia |
|
|
| amusia |
|
|
Search RIPOR2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
RIPR2_HUMAN- 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.
Additional Disease Information for RIPOR2
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No data available for Genatlas for RIPOR2 Gene
Publications for RIPOR2 Gene
- FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. (PMID: 24958875) Diaz-Horta O … Tekin M (Proceedings of the National Academy of Sciences of the United States of America 2014) 3 4 74
- C6ORF32 is upregulated during muscle cell differentiation and induces the formation of cellular filopodia. (PMID: 17150207) Yoon S … Gussoni E (Developmental biology 2007) 2 3 4
- Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation. (PMID: 30280293) Diaz-Horta O … Tekin M (Journal of molecular medicine (Berlin, Germany) 2018) 2 3
- FAM65B controls the proliferation of transformed and primary T cells. (PMID: 27556504) Froehlich J … Mangeney M (Oncotarget 2016) 3 4
- Front-signal-dependent accumulation of the RHOA inhibitor FAM65B at leading edges polarizes neutrophils. (PMID: 25588844) Gao K … Wu D (Journal of cell science 2015) 3 4
ExternalLinks
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