Ripor2 RHO family interacting cell polarization regulator 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ripor2provided by MGI
Official Full Name: RHO family interacting cell polarization regulator 2provided by MGI
Primary source: MGI:MGI:2444879
See related: Ensembl:ENSMUSG00000036006 AllianceGenome:MGI:2444879
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Fam65b
Summary: Enables identical protein binding activity. Involved in several processes, including auditory receptor cell stereocilium organization; cellular response to mechanical stimulus; and positive regulation of neutrophil migration. Located in stereocilium. Is expressed in several structures, including brain; heart; inner ear; liver; and lung. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 104. Orthologous to human RIPOR2 (RHO family interacting cell polarization regulator 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in spleen adult (RPKM 12.9), CNS E18 (RPKM 6.6) and 18 other tissues See more
Orthologs: human all
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Genomic context

Location:: 13 A3.1; 13 10.5 cM

Exon count:: 30

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	13	NC_000079.7 (24685513..24917789)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	13	NC_000079.6 (24501524..24733806)

Chromosome 13 - NC_000079.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RIPOR2-mediated autophagy dysfunction is critical for aminoglycoside-induced hearing loss.
Title: RIPOR2-mediated autophagy dysfunction is critical for aminoglycoside-induced hearing loss.
The FAM65B is a downstream target of Pink1 and Pink1 phosphorylates FAM65B at serine 46. Phosphorylated FAM65B inhibits autophagy and cell death in the heart.
Title: The circular RNA ACR attenuates myocardial ischemia/reperfusion injury by suppressing autophagy via modulation of the Pink1/ FAM65B pathway.
dysferlin deficiency seems to significantly alter the gene expression of Fam65b and Hdac6 during regeneration, since higher levels of expression of both genes were observed in dysferlin-deficient mice.
Title: Faster regeneration associated to high expression of Fam65b and Hdac6 in dysferlin-deficient mouse.
We propose that Ripor2 deficiency influences abundance and/or post-translational modifications of proteins expressed in both stereocilia and kinocilia. This effect may have a negative impact on the structure and function of the auditory hair cell bundle.
Title: Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation.
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.
RhoC co-localizes with Fam65b in stereocilia and regulates Fam65b oligomerization what is critical for hair cell function.
Title: Murine Fam65b forms ring-like structures at the base of stereocilia critical for mechanosensory hair cell function.
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.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (1)
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH136000 (e-PCR)
- UniSTS:209996

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

Clone Names

1700108N18Rik, 6330500D04Rik, E430013J17Rik, RP23-461O24.1

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 14-3-3 protein binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in auditory receptor cell stereocilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cellular response to chemokine	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to chemokine	ISO Inferred from Sequence Orthology more info
involved_in cellular response to mechanical stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in establishment of protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within 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	ISO Inferred from Sequence Orthology 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	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of T cell migration	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of T cell proliferation	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cell adhesion	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of establishment of T cell polarity	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of protein localization to cell leading edge	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within negative regulation of signal transduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of filopodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of filopodium assembly	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of myoblast differentiation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of myoblast fusion	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of neutrophil chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of neutrophil extravasation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cell cycle	ISO Inferred from Sequence Orthology more info
involved_in regulation of establishment of cell polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of mitotic spindle assembly	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISO Inferred from Sequence Orthology more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytoskeleton	ISO Inferred from Sequence Orthology more info
located_in cytosol	TAS Traceable Author Statement more info
located_in filopodium	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in stereocilium	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium	ISO Inferred from Sequence Orthology more info
located_in stereocilium membrane	ISO Inferred from Sequence Orthology 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; 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.

mRNA and Protein(s)

NM_001080381.1 → NP_001073850.1 rho family-interacting cell polarization regulator 2 isoform 2

See identical proteins and their annotated locations for NP_001073850.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks several exons, and uses an alternate 3'-terminal exon, compared to variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK031928, AK039271, BE987053, BY123481

Consensus CDS

CCDS36623.1

UniProtKB/Swiss-Prot

Q80U16

Related

ENSMUSP00000043663.7, ENSMUST00000038477.7

Conserved Domains (1) summary

pfam15903
Location:41 → 388

PL48; Filopodia upregulated, FAM65
NM_001286100.1 → NP_001273029.1 rho family-interacting cell polarization regulator 2 isoform 4

See identical proteins and their annotated locations for NP_001273029.1

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses an alternate 5'-terminal exon and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AA190042, AK031928, BC059179

Consensus CDS

CCDS70438.1

UniProtKB/TrEMBL

A6PW28

Related

ENSMUSP00000106012.2, ENSMUST00000110383.8

Conserved Domains (1) summary

pfam15903
Location:16 → 363

PL48; Filopodia upregulated, FAM65
NM_001286101.1 → NP_001273030.1 rho family-interacting cell polarization regulator 2 isoform 5

See identical proteins and their annotated locations for NP_001273030.1

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in both UTR's and the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (5) has a shorter N-terminus and a distinct C-terminus, compared to isoform 1.

Source sequence(s)

AK036452, AK041665, BE987053

UniProtKB/Swiss-Prot

Q80U16

Conserved Domains (1) summary

pfam15903
Location:16 → 362

PL48; Filopodia upregulated, FAM65
NM_001402912.1 → NP_001389841.1 rho family-interacting cell polarization regulator 2 isoform 6

Status: VALIDATED

Source sequence(s)

AL513014, AL589699, AL589744
NM_001402913.1 → NP_001389842.1 rho family-interacting cell polarization regulator 2 isoform 4

Status: VALIDATED

Source sequence(s)

AL513014, AL589699

UniProtKB/TrEMBL

A6PW28
NM_001402914.1 → NP_001389843.1 rho family-interacting cell polarization regulator 2 isoform 7

Status: VALIDATED

Source sequence(s)

AL513014, AL589699, AL589744
NM_001402915.1 → NP_001389844.1 rho family-interacting cell polarization regulator 2 isoform 8

Status: VALIDATED

Source sequence(s)

AL513014, AL589699, AL591851
NM_001402916.1 → NP_001389845.1 rho family-interacting cell polarization regulator 2 isoform 9

Status: VALIDATED

Source sequence(s)

AL513014, AL589699
NM_001402917.1 → NP_001389846.1 rho family-interacting cell polarization regulator 2 isoform 10

Status: VALIDATED

Source sequence(s)

AL513014, AL589699
NM_001402918.1 → NP_001389847.1 rho family-interacting cell polarization regulator 2 isoform 11

Status: VALIDATED

Source sequence(s)

AL513014, AL589744

UniProtKB/TrEMBL

A0A5F8MPY8

Related

ENSMUSP00000159186.2, ENSMUST00000238974.2
NM_001402919.1 → NP_001389848.1 rho family-interacting cell polarization regulator 2 isoform 12

Status: VALIDATED

Source sequence(s)

AL513014
NM_029679.2 → NP_083955.1 rho family-interacting cell polarization regulator 2 isoform 1

See identical proteins and their annotated locations for NP_083955.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).

Source sequence(s)

AA190042, AK031928, AK039271, BC059179, BY123481

Consensus CDS

CCDS36622.1

UniProtKB/Swiss-Prot

A6PW01, A6PW03, Q3TQ58, Q5SY29, Q5SZV4, Q5T0J1, Q80U16, Q8BIM7, Q8BJ19, Q8BJ22, Q8BJ32, Q8BJ54

Related

ENSMUSP00000106013.3, ENSMUST00000110384.9

Conserved Domains (1) summary

pfam15903
Location:41 → 388

PL48; Filopodia upregulated, FAM65
NM_178658.5 → NP_848773.3 rho family-interacting cell polarization regulator 2 isoform 3

See identical proteins and their annotated locations for NP_848773.3

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks several exons, and uses alternate 5'- and 3'-terminal exons, compared to variant 1. The encoded isoform (3) is shorter and has distinct N- and C-termini, compared to isoform 1.

Source sequence(s)

AK036695, AK040887, AK041665, BE987053

Consensus CDS

CCDS26377.2

UniProtKB/Swiss-Prot

Q80U16

Related

ENSMUSP00000089286.4, ENSMUST00000091694.10

Conserved Domains (1) summary

pfam15903
Location:44 → 390

PL48; Filopodia upregulated, FAM65

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000079.7 Reference GRCm39 C57BL/6J

Range

24685513..24917789

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006516594.5 → XP_006516657.1 rho family-interacting cell polarization regulator 2 isoform X11

Conserved Domains (1) summary

pfam15903
Location:50 → 397

PL48; Filopodia upregulated, FAM65
XM_006516589.5 → XP_006516652.1 rho family-interacting cell polarization regulator 2 isoform X3

Conserved Domains (1) summary

pfam15903
Location:50 → 379

PL48; Filopodia upregulated, FAM65
XM_036157915.1 → XP_036013808.1 rho family-interacting cell polarization regulator 2 isoform X9

Conserved Domains (1) summary

pfam15903
Location:50 → 378

PL48; Filopodia upregulated, FAM65
XM_006516588.3 → XP_006516651.1 rho family-interacting cell polarization regulator 2 isoform X2

Conserved Domains (1) summary

pfam15903
Location:44 → 391

PL48; Filopodia upregulated, FAM65
XM_006516591.3 → XP_006516654.1 rho family-interacting cell polarization regulator 2 isoform X5

See identical proteins and their annotated locations for XP_006516654.1

UniProtKB/TrEMBL

A6PW28

Conserved Domains (1) summary

pfam15903
Location:16 → 363

PL48; Filopodia upregulated, FAM65
XM_036157913.1 → XP_036013806.1 rho family-interacting cell polarization regulator 2 isoform X4

Conserved Domains (1) summary

pfam15903
Location:41 → 370

PL48; Filopodia upregulated, FAM65
XM_036157917.1 → XP_036013810.1 rho family-interacting cell polarization regulator 2 isoform X12

Conserved Domains (1) summary

pfam15903
Location:16 → 363

PL48; Filopodia upregulated, FAM65