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Aliases for RIPOR2 Gene

Aliases for RIPOR2 Gene

  • RHO Family Interacting Cell Polarization Regulator 2 2 3
  • Family With Sequence Similarity 65 Member B 2 3 5
  • FAM65B 3 4 5
  • C6orf32 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
  • 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

  • Required for hearing (PubMed:24958875). Involved in skeletal muscle development (PubMed:24687993).

  • Isoform 2: Plays a role in promoting myogenic cell differentiation, cytoskeletal rearrangement and filopodia formation (PubMed:17150207).

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

Regulatory Elements for RIPOR2 Gene

Enhancers for RIPOR2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G024996 1.5 FANTOM5 Ensembl ENCODE dbSUPER 16.1 +45.0 44989 2.0 PKNOX1 CEBPB CEBPG CHD7 ZNF341 PBX2 ZNF530 SPI1 SP7 RIPOR2 ENSG00000229313 TDP2 PPIAP29 ASS1P1
GH06G024991 1.3 Ensembl ENCODE dbSUPER 16.4 +50.5 50458 1.6 CTCF MXI1 MAX EBF1 ZIC2 ZNF2 RAD21 RFX5 EED ZNF207 RIPOR2 ENSG00000229313 PPIAP29 ASS1P1
GH06G025070 1.3 Ensembl ENCODE dbSUPER 12.2 -28.7 -28742 1.0 ELF3 CTCF LEF1 ARID4B RAD21 TEAD3 SLC30A9 ZNF143 SMC3 ZNF207 CMAHP ENSG00000229313 RIPOR2 ENSG00000230372 NUP50P2
GH06G024917 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.2 +121.8 121849 5.3 POLR2A SMARCA4 EED SMC3 CEBPG IRF1 PRDM1 EP300 RAD21 EZH2 RIPOR2 ENSG00000229313 C6orf62 TDP2 LOC105374981 ENSG00000282804
GH06G024925 1.8 FANTOM5 Ensembl ENCODE dbSUPER 7.1 +108.3 108331 16.4 HDGF PKNOX1 FOXA2 ZNF133 WRNIP1 SIN3A GLI4 YBX1 TCF12 ZNF302 RIPOR2 ENSG00000272053 TDP2 ALDH5A1 C6orf62 LOC105374981 MTCO2P33
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RIPOR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for RIPOR2 Gene

Chromosome:
6
Start:
24,804,281 bp from pter
End:
25,042,288 bp from pter
Size:
238,008 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-FA65B_HUMAN
    Recommended name:
    Protein FAM65B
    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:
    • Interacts with HDAC6 and DYSF during myogenic cell differentiation (PubMed:24687993). Interacts with MYOF (PubMed:24687993).
    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

  • Asn-41 was reported to be N-glycosylated; however as this position is probably not extracellular, the in vivo relevance is not proven (PubMed:16335952). Acetylated during myogenic differentiation (PubMed:24687993).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RIPOR2 Gene

Domains & Families for RIPOR2 Gene

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:

FA65B_HUMAN :
  • Belongs to the FAM65 family.
Family:
  • Belongs to the FAM65 family.
genes like me logo Genes that share domains with RIPOR2: view

No data available for Gene Families for RIPOR2 Gene

Function for RIPOR2 Gene

Molecular function for RIPOR2 Gene

UniProtKB/Swiss-Prot Function:
Required for hearing (PubMed:24958875). Involved in skeletal muscle development (PubMed:24687993).
UniProtKB/Swiss-Prot Function:
Isoform 2: Plays a role in promoting myogenic cell differentiation, cytoskeletal rearrangement and filopodia formation (PubMed:17150207).

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

Phenotypes for RIPOR2 Gene

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 Model Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RIPOR2 Gene

Localization for RIPOR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIPOR2 Gene

Isoform 1: Mitochondrion. Cell projection, stereocilium membrane. Cytoplasm.
Isoform 2: Cytoplasm, cytoskeleton. Cell projection, filopodium. Note=Detected in cellular filopodia. {ECO:0000269 PubMed:17150207}.

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
mitochondrion 3
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 IDA,IEA 17150207
GO:0005739 mitochondrion IEA --
GO:0005856 cytoskeleton IDA,IEA 17150207
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RIPOR2: view

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:0007162 negative regulation of cell adhesion ISS --
GO:0007275 multicellular organism development IEA --
GO:0007517 muscle organ development IEA --
GO:0007605 sensory perception of sound IMP 24958875
GO:0030154 cell differentiation 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
Rifampin Approved Pharma Agonist 348
genes like me logo Genes that share compounds with RIPOR2: view

Transcripts for RIPOR2 Gene

Inhibitory RNA 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-FA65B_HUMAN
Tissue specificity: Expressed in muscle. Isoform 1 is present in the brain. Isoform 2 is expressed during differentiation of fetal primary myoblasts. Also shows marked expression during cytotrophoblast differentiation.

Evidence on tissue expression from TISSUES for RIPOR2 Gene

  • Blood(4.8)
  • Nervous system(4.5)
  • Bone marrow(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RIPOR2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
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 35
  • 99.53 (n)
dog
(Canis familiaris)
Mammalia FAM65B 34 35
  • 87.68 (n)
cow
(Bos Taurus)
Mammalia FAM65B 34 35
  • 87.31 (n)
mouse
(Mus musculus)
Mammalia Fam65b 34 16 35
  • 84.92 (n)
rat
(Rattus norvegicus)
Mammalia Fam65b 34
  • 84.65 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM65B 35
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM65B 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM65B 34 35
  • 74.33 (n)
lizard
(Anolis carolinensis)
Reptilia FAM65B 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam65b 34
  • 67.61 (n)
zebrafish
(Danio rerio)
Actinopterygii fam65b 34 35
  • 59.96 (n)
worm
(Caenorhabditis elegans)
Secernentea C27H2.2 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

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 Sequence Context AA Info Type
rs875989828 Pathogenic 24,873,800(-) CCATA(A/G)GTGTA splice-acceptor-variant
rs1000003200 -- 25,029,095(+) CATCC(C/T)GGCCA intron-variant
rs1000036153 -- 24,866,414(+) GGCAT(A/C)TAGTG intron-variant
rs1000091734 -- 24,873,405(+) CATCA(C/T)TGTTT intron-variant
rs1000092889 -- 24,927,825(+) GAGTT(A/C)AAATA 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)

Relevant External Links for RIPOR2 Gene

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

(2) MalaCards diseases for RIPOR2 Gene - From: OMIM, ClinVar, Orphanet, and GeneCards

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

UniProtKB/Swiss-Prot

FA65B_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.

Relevant External Links for RIPOR2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Dev. Biol. 2007) 2 3 4 64
  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 Res. 1997) 2 3 4 64
  3. FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing. (PMID: 24958875) Diaz-Horta O. … Tekin M. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3 4 64
  4. Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation. (PMID: 24687993) Balasubramanian A. … Gussoni E. (FASEB J. 2014) 3 4 64
  5. Identification and characterization of a novel neural cell adhesion molecule (NCAM)-associated protein from quail myoblasts: relationship to myotube formation and induction of neurite-like protrusions. (PMID: 17825087) Hirayama E. … Kim J. (Differentiation 2008) 2 3 64

Products for RIPOR2 Gene

Sources for RIPOR2 Gene

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