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Aliases for RIPOR2 Gene

Aliases for RIPOR2 Gene

  • RHO Family Interacting Cell Polarization Regulator 2 2 3 5
  • Family With Sequence Similarity 65 Member B 2 3
  • C6orf32 3 4
  • FAM65B 3 4
  • DIFF48 3 4
  • PL48 3 4
  • Myogenesis-Related And NCAM-Associated Protein Homolog (Chicken) 2
  • Myogenesis-Related And NCAM-Associated Protein Homolog 3
  • Rho Family-Interacting Cell Polarization Regulator 2 3
  • Family With Sequence Similarity 65, Member B 2
  • Chromosome 6 Open Reading Frame 32 2
  • Protein FAM65B 3
  • KIAA0386 4
  • DFNB104 3
  • DIFF40 3
  • MYONAP 3

External Ids for RIPOR2 Gene

Previous HGNC Symbols for RIPOR2 Gene

  • C6orf32
  • FAM65B

Summaries for RIPOR2 Gene

Entrez Gene Summary 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 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

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIPOR2 Gene

Genomics for RIPOR2 Gene

GeneHancer (GH) Regulatory Elements for RIPOR2 Gene

Promoters and enhancers for RIPOR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J025034 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 654.8 +3.1 3114 10.2 HDGF PKNOX1 SMAD1 ATF1 YBX1 TCF12 ZNF766 GATA2 ZNF143 ATF7 RIPOR2 CMAHP ENSG00000272810 C6orf62 TDP2 ENSG00000229313 LOC102724765
GH06J024907 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 655.8 +131.6 131621 6.9 CTCF MXI1 TFAP4 ZBTB6 ZSCAN4 SIN3A STAT5A EBF1 MCM2 ZNF335 RIPOR2 LOC105374981 ENSG00000282804
GH06J024874 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 656.6 +165.8 165755 3.6 BACH1 SIN3A SP1 POLR2A ZNF585B SCRT2 FOS TCF7L2 RIPOR2 LOC105374981 ENSG00000282804
GH06J024804 Promoter 0.5 EPDnew 650.1 +237.7 237723 0.1 RIPOR2 C6orf62 ARMH2 ENSG00000282804
GH06J024996 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 16.1 +45.0 44989 2 MEIS2 PKNOX1 CEBPB CEBPG ZNF341 ZNF530 SPI1 SP7 RIPOR2 ENSG00000229313 TDP2 PPIAP29 ASS1P1
- 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 UCSC Golden Path with GeneCards custom track

Genomic Locations for RIPOR2 Gene

Genomic Locations for RIPOR2 Gene
chr6:24,804,281-25,042,288
(GRCh38/hg38)
Size:
238,008 bases
Orientation:
Minus strand
chr6:24,797,601-25,042,238
(GRCh37/hg19)
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:
RIPOR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIPOR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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).
    Miscellaneous:
    • Cells lacking isoform 2 exhibit a severe reduction of myotube formation. In contrast, isoform 2 overexpression induces formation of filopodia.
    SequenceCaution:
    • Sequence=AAC51134.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=BAA20840.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for RIPOR2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIPOR2 Gene

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

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:

Graphical View of Domain Structure for InterPro Entry

Q9Y4F9

UniProtKB/Swiss-Prot:

RIPR2_HUMAN :
  • Belongs to the RIPOR family.
Family:
  • Belongs to the RIPOR family.
genes like me logo Genes that share domains with RIPOR2: view

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

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with RIPOR2: view
genes like me logo Genes that share phenotypes with RIPOR2: view

Human Phenotype Ontology for RIPOR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RIPOR2 Gene

MGI Knock Outs for RIPOR2:
  • Ripor2 Ripor2<tm1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIPOR2

Clone Products

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}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RIPOR2 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 4
nucleus 2
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for RIPOR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 17150207
GO:0005856 cytoskeleton IDA,IEA 17150207
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016324 apical plasma membrane IEA --
genes like me logo Genes that share ontologies with RIPOR2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RIPOR2 Gene

Pathways & Interactions for RIPOR2 Gene

SuperPathways for RIPOR2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RIPOR2 Gene

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 --
genes like me logo Genes that share ontologies with RIPOR2: view

No data available for Pathways by source and SIGNOR curated interactions for RIPOR2 Gene

Drugs & Compounds for RIPOR2 Gene

(1) Drugs for RIPOR2 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rifampicin Approved Pharma Agonist, Inhibition, Inhibitor Pregnane X receptor agonist; antibiotic 376
genes like me logo Genes that share compounds with RIPOR2: view

Transcripts for RIPOR2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIPOR2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RIPOR2 Gene

No ASD Table

Relevant External Links for RIPOR2 Gene

GeneLoc Exon Structure for
RIPOR2
ECgene alternative splicing isoforms for
RIPOR2

Expression for RIPOR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of RIPOR2 Gene:

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(4.5)

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
genes like me logo Genes that share expression patterns with RIPOR2: view

Primer Products

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.

Orthologs for RIPOR2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM65B 34 33
  • 99.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FAM65B 34 33
  • 87.68 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM65B 34 33
  • 87.31 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fam65b 34 33
  • 84.92 (n)
OneToOne
Ripor2 16
rat
(Rattus norvegicus)
Mammalia Fam65b 33
  • 84.65 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM65B 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM65B 34
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM65B 34 33
  • 74.33 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FAM65B 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam65b 33
  • 67.61 (n)
zebrafish
(Danio rerio)
Actinopterygii fam65b 34 33
  • 59.96 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea C27H2.2 34
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 20 (a)
OneToMany
Species where no ortholog for RIPOR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

Paralogs for RIPOR2 Gene

genes like me logo Genes that share paralogs with RIPOR2: view

Variants for RIPOR2 Gene

Sequence variations from dbSNP and Humsavar for RIPOR2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs875989828 pathogenic, Deafness, autosomal recessive 104 24,873,800(-) C/T splice_acceptor_variant
rs142889670 likely-benign, not provided 24,843,106(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs143785002 likely-benign, not provided 24,842,946(-) T/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000003200 -- 25,029,095(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000036153 -- 24,866,414(-) C/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for RIPOR2 Gene

Variant ID Type Subtype PubMed ID
dgv3290n106 CNV deletion 24896259
esv1004432 CNV deletion 20482838
esv1071217 CNV deletion 17803354
esv2171182 CNV deletion 18987734
esv2556930 CNV deletion 19546169
esv2592028 CNV deletion 19546169
esv2667409 CNV deletion 23128226
esv2731716 CNV deletion 23290073
esv2731717 CNV deletion 23290073
esv2731719 CNV deletion 23290073
esv275111 CNV gain+loss 21479260
esv2763543 CNV loss 21179565
esv3287829 CNV deletion 24192839
esv3567433 CNV deletion 23714750
esv3608371 CNV loss 21293372
esv3608374 CNV loss 21293372
esv3608375 CNV loss 21293372
esv5139 CNV loss 18987735
esv6116 CNV loss 19470904
esv998494 CNV deletion 20482838
nsv1030634 CNV gain 25217958
nsv1073543 CNV deletion 25765185
nsv435839 CNV deletion 17901297
nsv478306 CNV novel sequence insertion 20440878
nsv499497 CNV loss 21111241
nsv508396 CNV deletion 20534489
nsv510020 OTHER sequence alteration 20534489
nsv511858 CNV loss 21212237
nsv5227 CNV deletion 18451855
nsv819104 CNV gain 19587683
nsv830609 CNV gain 17160897
nsv830610 CNV loss 17160897
nsv830611 CNV loss 17160897
nsv955809 CNV deletion 24416366
nsv969353 CNV duplication 23825009
nsv981111 CNV duplication 23825009

Variation tolerance for RIPOR2 Gene

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

Human Gene Mutation Database (HGMD)
RIPOR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIPOR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIPOR2 Gene

Disorders for RIPOR2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RIPOR2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 104
  • dfnb104
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
reading disorder
  • dyslexia
dyslexia
- elite association - COSMIC cancer census association via MalaCards

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 mutations affecting the gene represented in this entry.

Additional Disease Information for RIPOR2

genes like me logo Genes that share disorders with RIPOR2: view

No data available for Genatlas for RIPOR2 Gene

Publications for RIPOR2 Gene

  1. 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 58
  2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 58
  3. FAM65B controls the proliferation of transformed and primary T cells. (PMID: 27556504) Froehlich J … Mangeney M (Oncotarget 2016) 3 4 58
  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 58
  5. 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 58

Products for RIPOR2 Gene

Sources for RIPOR2 Gene

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