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

Gene ID: 9750, updated on 3-Apr-2024

Summary

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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; AllianceGenome:HGNC:13872
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; DFNA21; 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
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Genomic context

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See RIPOR2 in Genome Data Viewer
Location:
6p22.3
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (24804284..25042168, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (24675432..24907349, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (24804512..25042396, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901280 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:24821142-24821270 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:24827169-24827670 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:24827671-24828170 Neighboring gene armadillo like helical domain containing 2 Neighboring gene Sharpr-MPRA regulatory region 11328 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24159 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24875839-24876775 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:24918137-24918636 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24160 Neighboring gene uncharacterized LOC105374981 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24161 Neighboring gene MT-CO2 pseudogene 33 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24980966-24981536 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:24985321-24985939 Neighboring gene peptidylprolyl isomerase A pseudogene 29 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:25009294-25009446 Neighboring gene uncharacterized LOC102724765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24162 Neighboring gene RNA, 7SL, cytoplasmic 334, pseudogene Neighboring gene argininosuccinate synthetase 1 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24163 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24165 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24164 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:25059321-25059634 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:25061721-25062289 Neighboring gene cytidine monophospho-N-acetylneuraminic acid hydroxylase, pseudogene Neighboring gene uncharacterized LOC124901282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24167 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24168 Neighboring gene nucleoporin 50 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. RIPOR2 Expression Decreased by HPV-16 E6 and E7 Oncoproteins: An Opportunity in the Search for Prognostic Biomarkers in Cervical Cancer. Olmedo-Nieva L, et al. Cells, 2022 Dec 6. PMID 36497200, Free PMC Article
  2. Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3. de Brouwer AP, et al. Am J Med Genet A, 2005 Aug 15. PMID 16007628
  3. Life and death in the placenta: new peptides and genes regulating human syncytiotrophoblast and extravillous cytotrophoblast lineage formation and renewal. Morrish DW, et al. Curr Protein Pept Sci, 2001 Sep. PMID 12369935
  4. Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes. Bom SJ, et al. Br J Audiol, 1999 Oct. PMID 10890148
  5. Non-syndromic autosomal dominant progressive non-specific mid-frequency sensorineural hearing impairment with childhood to late adolescence onset (DFNA21). Kunst H, et al. Clin Otolaryngol Allied Sci, 2000 Feb. PMID 10764236

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. RIPOR2 Expression Decreased by HPV-16 E6 and E7 Oncoproteins: An Opportunity in the Search for Prognostic Biomarkers in Cervical Cancer.
    Title: RIPOR2 Expression Decreased by HPV-16 E6 and E7 Oncoproteins: An Opportunity in the Search for Prognostic Biomarkers in Cervical Cancer.
  2. this is the first study to explore and validate the relationships between seven SNPs in the FAM65B, AGBL4, and CUX2 genes and ATDH in a Chinese population. On the basis of this case-control study, SNP rs10946737 in FAM65B may be associated with susceptibility to ATDH in Chinese Han anti-TB treatment patients.
    Title: Association of FAM65B, AGBL4, and CUX2 genetic polymorphisms with susceptibility to antituberculosis drug-induced hepatotoxicity: validation study in a Chinese Han population.
  3. results show that Fam65b expression and phosphorylation can finely tune the amount of active RhoA in order to favor optimal T lymphocyte motility.
    Title: Fam65b Phosphorylation Relieves Tonic RhoA Inhibition During T Cell Migration.
  4. FAM65B has a role in controlling proliferation of transformed and primary T cells
    Title: FAM65B controls the proliferation of transformed and primary T cells.
  5. Mouse Ripor2 forms ring-like structures at the base of stereocilia and interacts with RhoC
    Title: Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function.
  6. In our analyses of the DYX2 locus, we observed associations of KIAA0319, ACOT13, and FAM65B with developing cortical thickness and/or functional anisotropy.
    Title: Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children.
  7. These data together elucidate a mechanism for RHOA and pMLC polarization in stimulated neutrophils through direct inhibition of RHOA by FAM65B at the leading edge.
    Title: Front-signal-dependent accumulation of the RHOA inhibitor FAM65B at leading edges polarizes neutrophils.
  8. Fam65b expression is necessary for the complex to form.
    Title: Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation.
  9. show that wild-type Fam65b is expressed during embryonic and postnatal development stages in murine cochlea, and that the protein localizes to the plasma membranes of the stereocilia of inner and outer hair cells of the inner ear
    Title: FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing.
  10. PC3 tumors are sustained by a small number of tumor-initiating cells with stem-like characteristics, including strong self-renewal and pro-angiogenic capability and marked by the expression pattern FAM65Bhigh/MFI2low/LEF1low.
    Title: PC3 prostate tumor-initiating cells with molecular profile FAM65Bhigh/MFI2low/LEF1low increase tumor angiogenesis.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal dominant nonsyndromic hearing loss 21
MedGen: C1846922 OMIM: 607017 GeneReviews: Not available
Compare labs
Autosomal recessive nonsyndromic hearing loss 104
MedGen: C4225298 OMIM: 616515 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0386

Gene Ontology Provided by GOA

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

General protein information

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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)

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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
    111329..243005
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001286445.3 → NP_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, AL512428
    Consensus CDS
    CCDS69058.1
    UniProtKB/TrEMBL
    A0A2R8YEE0, B7Z5J9
    Related
    ENSP00000494268.2, ENST00000643898.2
    Conserved Domains (1) summary
    pfam15903
    Location:45 → 391
    PL48; Filopodia upregulated, FAM65

  2. NM_001286446.3 → NP_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, DC406827
    Consensus CDS
    CCDS75410.1
    UniProtKB/TrEMBL
    B7Z6D6, B7Z6U4
    Related
    ENSP00000441305.1, ENST00000510784.8
    Conserved Domains (1) summary
    pfam15903
    Location:50 → 396
    PL48; Filopodia upregulated, FAM65

  3. NM_001286447.2 → NP_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/TrEMBL
    B7Z6D6, F5H029
    Related
    ENSP00000438425.1, ENST00000540914.5
    Conserved Domains (1) summary
    pfam15903
    Location:16 → 362
    PL48; Filopodia upregulated, FAM65

  4. NM_001346031.2 → NP_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
    UniProtKB/TrEMBL
    B7Z5J9, F5GX51

  5. NM_001346032.2 → NP_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
    UniProtKB/TrEMBL
    B7Z5J9, F5GX51
    Related
    ENSP00000441138.2, ENST00000538035.6

  6. NM_014722.5 → NP_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
    A6NHP2, Q13529, Q5VV37, Q5VV38, Q9BQ28, Q9Y4F9
    UniProtKB/TrEMBL
    B7Z5J9
    Related
    ENSP00000259698.4, ENST00000259698.9
    Conserved Domains (1) summary
    pfam15903
    Location:16 → 364
    PL48; Filopodia upregulated, FAM65

  7. NM_015864.5 → NP_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)
    AL512428, BC001232
    Consensus CDS
    CCDS47384.1
    UniProtKB/TrEMBL
    B7Z6D6
    Related
    ENSP00000367262.4, ENST00000378023.8
    Conserved Domains (1) summary
    pfam15903
    Location:16 → 362
    PL48; Filopodia upregulated, FAM65

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    24804284..25042168 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715275.3 → XP_006715338.1  rho family-interacting cell polarization regulator 2 isoform X1

    UniProtKB/TrEMBL
    B7Z5J9
    Conserved Domains (1) summary
    pfam15903
    Location:50 → 396
    PL48; Filopodia upregulated, FAM65

  2. XM_011515012.2 → XP_011513314.1  rho family-interacting cell polarization regulator 2 isoform X9

    UniProtKB/TrEMBL
    B7Z5J9
    Conserved Domains (1) summary
    pfam15903
    Location:50 → 398
    PL48; Filopodia upregulated, FAM65

  3. XM_006715279.3 → XP_006715342.1  rho family-interacting cell polarization regulator 2 isoform X2

    See identical proteins and their annotated locations for XP_006715342.1

    UniProtKB/TrEMBL
    B7Z5J9, F5GX51
    Conserved Domains (1) summary
    pfam15903
    Location:16 → 362
    PL48; Filopodia upregulated, FAM65

  4. XM_047419591.1 → XP_047275547.1  rho family-interacting cell polarization regulator 2 isoform X5

  5. XM_047419590.1 → XP_047275546.1  rho family-interacting cell polarization regulator 2 isoform X4

  6. XM_006715281.4 → XP_006715344.1  rho family-interacting cell polarization regulator 2 isoform X6

    UniProtKB/TrEMBL
    B7Z6D6
    Conserved Domains (1) summary
    pfam15903
    Location:50 → 396
    PL48; Filopodia upregulated, FAM65

  7. XM_047419592.1 → XP_047275548.1  rho family-interacting cell polarization regulator 2 isoform X7

  8. XM_017011524.2 → XP_016867013.1  rho family-interacting cell polarization regulator 2 isoform X3

    UniProtKB/TrEMBL
    A0A2R8Y7B3, B7Z6D6
    Related
    ENSP00000495879.1, ENST00000645100.1

  9. XM_047419593.1 → XP_047275549.1  rho family-interacting cell polarization regulator 2 isoform X8

    UniProtKB/TrEMBL
    F5H029
    Related
    ENSP00000494150.1, ENST00000647136.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    24675432..24907349 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356882.1 → XP_054212857.1  rho family-interacting cell polarization regulator 2 isoform X1

  2. XM_054356892.1 → XP_054212867.1  rho family-interacting cell polarization regulator 2 isoform X9

  3. XM_054356883.1 → XP_054212858.1  rho family-interacting cell polarization regulator 2 isoform X2

    UniProtKB/TrEMBL
    F5GX51

  4. XM_054356885.1 → XP_054212860.1  rho family-interacting cell polarization regulator 2 isoform X2

    UniProtKB/TrEMBL
    F5GX51

  5. XM_054356884.1 → XP_054212859.1  rho family-interacting cell polarization regulator 2 isoform X2

    UniProtKB/TrEMBL
    F5GX51

  6. XM_054356888.1 → XP_054212863.1  rho family-interacting cell polarization regulator 2 isoform X5

  7. XM_054356887.1 → XP_054212862.1  rho family-interacting cell polarization regulator 2 isoform X4

  8. XM_054356889.1 → XP_054212864.1  rho family-interacting cell polarization regulator 2 isoform X6

  9. XM_054356890.1 → XP_054212865.1  rho family-interacting cell polarization regulator 2 isoform X7

  10. XM_054356886.1 → XP_054212861.1  rho family-interacting cell polarization regulator 2 isoform X3

    UniProtKB/TrEMBL
    A0A2R8Y7B3

  11. XM_054356891.1 → XP_054212866.1  rho family-interacting cell polarization regulator 2 isoform X8

    UniProtKB/TrEMBL
    F5H029
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y4F9.4 GenPept UniProtKB/Swiss-Prot:Q9Y4F9

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