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

Gene ID: 9750, updated on 17-Jun-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
109.20190607 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (24804284..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 
identical protein binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
auditory receptor cell stereocilium organization IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
cellular response to chemokine IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to mechanical stimulus IEA
Inferred from Electronic Annotation
more info
 
chemotaxis IEA
Inferred from Electronic Annotation
more info
 
establishment of protein localization 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
 
protein homooligomerization IEA
Inferred from Electronic Annotation
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_001286445.3NP_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
    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_001346031.2NP_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_001346032.2NP_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_014722.5NP_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_015864.4NP_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
    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.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    24804284..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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