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    RIPOR2 RHO family interacting cell polarization regulator 2 [ Homo sapiens (human) ]

    Gene ID: 9750, updated on 14-Feb-2019

    Summary

    Official Symbol
    RIPOR2provided by HGNC
    Official Full Name
    RHO family interacting cell polarization regulator 2provided by HGNC
    Primary source
    HGNC:HGNC:13872
    See related
    Ensembl:ENSG00000111913 MIM:611410
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PL48; DIFF40; DIFF48; FAM65B; MYONAP; C6orf32; DFNB104
    Summary
    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]
    Expression
    Biased expression in lymph node (RPKM 23.2), spleen (RPKM 16.0) and 11 other tissues See more
    Orthologs

    Genomic context

    See RIPOR2 in Genome Data Viewer
    Location:
    6p22.3
    Exon count:
    31
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (24804281..25042288, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (24804512..24936275, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene geminin DNA replication inhibitor Neighboring gene armadillo like helical domain containing 2 Neighboring gene uncharacterized LOC105374981 Neighboring gene MT-CO2 pseudogene 33 Neighboring gene peptidylprolyl isomerase A pseudogene 29 Neighboring gene uncharacterized LOC102724765 Neighboring gene RNA, 7SL, cytoplasmic 334, pseudogene Neighboring gene argininosuccinate synthetase 1 pseudogene 1 Neighboring gene cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene Neighboring gene nucleoporin 50 pseudogene 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Deafness, autosomal recessive 104
    MedGen: C4225298 OMIM: 616515 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Family-based genome-wide association study of frontal θ oscillations identifies potassium channel gene KCNJ6.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0386

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    14-3-3 protein binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cell adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to chemokine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chemotaxis IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of Rho guanyl-nucleotide exchange factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of Rho guanyl-nucleotide exchange factor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of Rho protein signal transduction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of Rho protein signal transduction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of T cell migration IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell adhesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of cell adhesion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    negative regulation of establishment of T cell polarity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    negative regulation of protein localization to cell leading edge ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of filopodium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of myoblast differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of myoblast fusion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    positive regulation of neutrophil chemotaxis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of neutrophil extravasation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of establishment of cell polarity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sensory perception of sound IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skeletal muscle fiber development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoskeleton IDA
    Inferred from Direct Assay
    more info
    PubMed 
    filopodium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    stereocilium membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    rho family-interacting cell polarization regulator 2
    Names
    family with sequence similarity 65 member B
    myogenesis-related and NCAM-associated protein homolog
    protein FAM65B

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051606.1 RefSeqGene

      Range
      136119..243008
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001286445.2NP_001273374.1  rho family-interacting cell polarization regulator 2 isoform 3

      See identical proteins and their annotated locations for NP_001273374.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' exon and it thus differs in the 5' UTR and initiates translation at an alternate start codon, and it lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (3) has a distinct N-terminus and is shorter than isoform 1.
      Source sequence(s)
      AA760782, AK299047, AL078584, AL512428, DC428807
      Consensus CDS
      CCDS69058.1
      UniProtKB/TrEMBL
      B7Z5J9, F5GX51
      Related
      ENSP00000494268.1, ENST00000643898.1
      Conserved Domains (1) summary
      pfam15903
      Location:45391
      PL48; Filopodia upregulated, FAM65
    2. NM_001286446.2NP_001273375.1  rho family-interacting cell polarization regulator 2 isoform 4

      See identical proteins and their annotated locations for NP_001273375.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate 5' exon and it thus differs in the 5' UTR and initiates translation at an alternate start codon, it lacks an alternate in-frame exon in the central coding region, and it lacks multiple 3' exons but includes an alternate 3' exon, compared to variant 1. The encoded isoform (4) has distinct N- and C-termini and is shorter than isoform 1.
      Source sequence(s)
      AK300138, AK300950, AL512428, BC001232, DB165647, DC406827
      Consensus CDS
      CCDS75410.1
      UniProtKB/Swiss-Prot
      Q9Y4F9
      UniProtKB/TrEMBL
      B7Z6D6, B7Z6U4
      Related
      ENSP00000441305.1, ENST00000510784.8
      Conserved Domains (1) summary
      pfam15903
      Location:50396
      PL48; Filopodia upregulated, FAM65
    3. NM_001286447.1NP_001273376.1  rho family-interacting cell polarization regulator 2 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) has an alternate 5' UTR exon, it lacks an in-frame exon in the central coding region, and it lacks multiple 3' exons but includes an alternate 3' exon, compared to variant 1. The encoded isoform (5) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      AK300138, AL512428, BC001232, CN313643
      Consensus CDS
      CCDS69057.1
      UniProtKB/Swiss-Prot
      Q9Y4F9
      UniProtKB/TrEMBL
      B7Z6D6, F5H029
      Related
      ENSP00000438425.1, ENST00000540914.5
      Conserved Domains (1) summary
      pfam15903
      Location:16362
      PL48; Filopodia upregulated, FAM65
    4. NM_001346031.1NP_001332960.1  rho family-interacting cell polarization regulator 2 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. Both variants 6 and 7 encode the same isoform (6), which is shorter than isoform 1.
      Source sequence(s)
      AA760782, AL078584, AL512428
      Consensus CDS
      CCDS87373.1
    5. NM_001346032.1NP_001332961.1  rho family-interacting cell polarization regulator 2 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region compared to variant 1. Both variants 6 and 7 encode the same isoform (6), which is shorter than isoform 1.
      Source sequence(s)
      AA760782, AL078584, AL512428
      Consensus CDS
      CCDS87373.1
      Related
      ENSP00000441138.2, ENST00000538035.6
    6. NM_014722.4NP_055537.2  rho family-interacting cell polarization regulator 2 isoform 1

      See identical proteins and their annotated locations for NP_055537.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA760782, AB002384, AK299047, AL512428, BC001232, DA024828
      Consensus CDS
      CCDS47383.1
      UniProtKB/Swiss-Prot
      Q9Y4F9
      UniProtKB/TrEMBL
      A0A024QZY9, B7Z5J9
      Related
      ENSP00000496721.1, ENST00000644685.1
      Conserved Domains (1) summary
      pfam15903
      Location:16364
      PL48; Filopodia upregulated, FAM65
    7. NM_015864.3NP_056948.2  rho family-interacting cell polarization regulator 2 isoform 2

      See identical proteins and their annotated locations for NP_056948.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR exon, it lacks an in-frame exon in the central coding region, and it lacks multiple 3' exons but includes an alternate 3' exon, compared to variant 1. The encoded isoform (2) has a distinct C-terminus and is shorter than isoform 1.
      Source sequence(s)
      BC001232, CN313643
      Consensus CDS
      CCDS47384.1
      UniProtKB/Swiss-Prot
      Q9Y4F9
      UniProtKB/TrEMBL
      A0A024R028
      Related
      ENSP00000367262.4, ENST00000378023.8
      Conserved Domains (1) summary
      pfam15903
      Location:16362
      PL48; Filopodia upregulated, FAM65

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

      Range
      24804281..25042288 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515007.1XP_011513309.1  rho family-interacting cell polarization regulator 2 isoform X2

      See identical proteins and their annotated locations for XP_011513309.1

      UniProtKB/TrEMBL
      F5GX51
      Conserved Domains (1) summary
      pfam15903
      Location:45391
      PL48; Filopodia upregulated, FAM65
    2. XM_006715275.2XP_006715338.1  rho family-interacting cell polarization regulator 2 isoform X1

      Conserved Domains (1) summary
      pfam15903
      Location:50396
      PL48; Filopodia upregulated, FAM65
    3. XM_011515012.1XP_011513314.1  rho family-interacting cell polarization regulator 2 isoform X8

      Conserved Domains (1) summary
      pfam15903
      Location:50398
      PL48; Filopodia upregulated, FAM65
    4. XM_011515009.1XP_011513311.1  rho family-interacting cell polarization regulator 2 isoform X3

      See identical proteins and their annotated locations for XP_011513311.1

      Conserved Domains (1) summary
      pfam15903
      Location:16362
      PL48; Filopodia upregulated, FAM65
    5. XM_017011523.1XP_016867012.1  rho family-interacting cell polarization regulator 2 isoform X3

      Conserved Domains (1) summary
      pfam15903
      Location:16362
      PL48; Filopodia upregulated, FAM65
    6. XM_011515008.2XP_011513310.1  rho family-interacting cell polarization regulator 2 isoform X3

      See identical proteins and their annotated locations for XP_011513310.1

      Conserved Domains (1) summary
      pfam15903
      Location:16362
      PL48; Filopodia upregulated, FAM65
    7. XM_006715279.2XP_006715342.1  rho family-interacting cell polarization regulator 2 isoform X3

      See identical proteins and their annotated locations for XP_006715342.1

      Conserved Domains (1) summary
      pfam15903
      Location:16362
      PL48; Filopodia upregulated, FAM65
    8. XM_017011527.1XP_016867016.1  rho family-interacting cell polarization regulator 2 isoform X7

      UniProtKB/Swiss-Prot
      Q9Y4F9
      UniProtKB/TrEMBL
      A0A024R028
      Related
      ENSP00000495245.1, ENST00000643623.1
      Conserved Domains (1) summary
      pfam15903
      Location:16362
      PL48; Filopodia upregulated, FAM65
    9. XM_006715281.3XP_006715344.1  rho family-interacting cell polarization regulator 2 isoform X5

      Conserved Domains (1) summary
      pfam15903
      Location:50396
      PL48; Filopodia upregulated, FAM65
    10. XM_017011524.1XP_016867013.1  rho family-interacting cell polarization regulator 2 isoform X4

      Related
      ENSP00000495879.1, ENST00000645100.1
    11. XM_017011526.1XP_016867015.1  rho family-interacting cell polarization regulator 2 isoform X7

      UniProtKB/Swiss-Prot
      Q9Y4F9
      UniProtKB/TrEMBL
      A0A024R028
      Related
      ENSP00000495914.1, ENST00000644621.1
      Conserved Domains (1) summary
      pfam15903
      Location:16362
      PL48; Filopodia upregulated, FAM65
    12. XM_017011525.1XP_016867014.1  rho family-interacting cell polarization regulator 2 isoform X6

      UniProtKB/TrEMBL
      F5H029
      Related
      ENSP00000494150.1, ENST00000647136.1
      Conserved Domains (1) summary
      pfam15903
      Location:16362
      PL48; Filopodia upregulated, FAM65

    RNA

    1. XR_001743760.1 RNA Sequence

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