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

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; 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: mouse all
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Genomic context

Location:: 6p22.3

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (24804284..25042168, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (24675432..24907349, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (24804512..25042396, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
FAM65B has a role in controlling proliferation of transformed and primary T cells
Title: FAM65B controls the proliferation of transformed and primary T cells.
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.
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.
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.
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.
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.
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 &#x003b8; oscillations identifies potassium channel gene KCNJ6. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-U49187 (e-PCR)
- UniSTS:35596

D6S2235 (e-PCR)
- UniSTS:239137

D6S1554 (e-PCR), detects polymorphism
- UniSTS:22584

D1S1423 (e-PCR)
- UniSTS:149619

RH93877 (e-PCR)
- UniSTS:92570

PMC166143P9 (e-PCR)
- UniSTS:271572

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 T cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of T cell proliferation	TAS Traceable Author Statement 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 cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of establishment of cell polarity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of mitotic spindle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
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

NG_051606.1 RefSeqGene

Range

111329..243005

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

24804284..25042168 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
XM_047419591.1 → XP_047275547.1 rho family-interacting cell polarization regulator 2 isoform X5
XM_047419590.1 → XP_047275546.1 rho family-interacting cell polarization regulator 2 isoform X4
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
XM_047419592.1 → XP_047275548.1 rho family-interacting cell polarization regulator 2 isoform X7
XM_017011524.2 → XP_016867013.1 rho family-interacting cell polarization regulator 2 isoform X3

UniProtKB/TrEMBL

A0A2R8Y7B3, B7Z6D6

Related

ENSP00000495879.1, ENST00000645100.1
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

NC_060930.1 Alternate T2T-CHM13v2.0

Range

24675432..24907349 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054356882.1 → XP_054212857.1 rho family-interacting cell polarization regulator 2 isoform X1
XM_054356892.1 → XP_054212867.1 rho family-interacting cell polarization regulator 2 isoform X9
XM_054356883.1 → XP_054212858.1 rho family-interacting cell polarization regulator 2 isoform X2

UniProtKB/TrEMBL

F5GX51
XM_054356885.1 → XP_054212860.1 rho family-interacting cell polarization regulator 2 isoform X2

UniProtKB/TrEMBL

F5GX51
XM_054356884.1 → XP_054212859.1 rho family-interacting cell polarization regulator 2 isoform X2

UniProtKB/TrEMBL

F5GX51
XM_054356888.1 → XP_054212863.1 rho family-interacting cell polarization regulator 2 isoform X5
XM_054356887.1 → XP_054212862.1 rho family-interacting cell polarization regulator 2 isoform X4
XM_054356889.1 → XP_054212864.1 rho family-interacting cell polarization regulator 2 isoform X6
XM_054356890.1 → XP_054212865.1 rho family-interacting cell polarization regulator 2 isoform X7
XM_054356886.1 → XP_054212861.1 rho family-interacting cell polarization regulator 2 isoform X3

UniProtKB/TrEMBL

A0A2R8Y7B3
XM_054356891.1 → XP_054212866.1 rho family-interacting cell polarization regulator 2 isoform X8

UniProtKB/TrEMBL

F5H029