Sh3rf2 SH3 domain containing ring finger 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sh3rf2provided by MGI
Official Full Name: SH3 domain containing ring finger 2provided by MGI
Primary source: MGI:MGI:2444628
See related: Ensembl:ENSMUSG00000057719 AllianceGenome:MGI:2444628
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: RNF158; Ppp1r39; 2310046K19; 9130023G24Rik
Summary: Predicted to enable protein phosphatase 1 binding activity and ubiquitin protein ligase activity. Predicted to be involved in several processes, including protein autoubiquitination; regulation of JNK cascade; and regulation of protein metabolic process. Predicted to be located in nucleus. Predicted to be active in nucleoplasm. Is expressed in central nervous system; dorsal root ganglion; and neural retina. Used to study autism spectrum disorder. Orthologous to human SH3RF2 (SH3 domain containing ring finger 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in testis adult (RPKM 39.6), lung adult (RPKM 3.7) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 18 B3; 18 22.21 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (42185531..42291760)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (42052502..42158695)

Chromosome 18 - NC_000084.7 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: 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?

Hepatocyte SH3RF2 Deficiency Is a Key Aggravator for NAFLD.
Title: Hepatocyte SH3RF2 Deficiency Is a Key Aggravator for NAFLD.
Sh3rf2 haploinsufficiency is a highly penetrant risk factor for Autism spectrum disorders.
Title: Sh3rf2 Haploinsufficiency Leads to Unilateral Neuronal Development Deficits and Autistic-Like Behaviors in Mice.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (6) 1 citation
Gene trapped (1)
Targeted (1) 1 citation

General gene information

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Markers

D18Mit113 (e-PCR), detects polymorphism
- UniSTS:128135

D18Mit114 (e-PCR), detects polymorphism
- UniSTS:128136

AI452083 (e-PCR)
- UniSTS:166094

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables phosphatase binding	ISO Inferred from Sequence Orthology more info
enables phosphatase binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein phosphatase 1 binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein phosphatase 1 binding	ISO Inferred from Sequence Orthology more info
enables protein phosphatase 1 binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein phosphatase inhibitor activity	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	ISO Inferred from Sequence Orthology more info
enables ubiquitin protein ligase activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in negative regulation of JNK cascade	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of JNK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of protein ubiquitination	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of protein ubiquitination	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of JNK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of JNK cascade	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of JNK cascade	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of cell migration	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of proteasomal ubiquitin-dependent protein catabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein autoubiquitination	ISO Inferred from Sequence Orthology more info
involved_in protein autoubiquitination	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein ubiquitination	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in nucleoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase SH3RF2

Names: RING finger protein 158; RING-type E3 ubiquitin transferase SH3RF2; SH3 domain-containing RING finger protein 2; protein phosphatase 1 regulatory subunit 39; putative E3 ubiquitin-protein ligase SH3RF2

NP_001139771.1

EC 2.3.2.27

NP_766554.2

EC 2.3.2.27

XP_006526018.1

EC 2.3.2.27

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_001146299.1 → NP_001139771.1 E3 ubiquitin-protein ligase SH3RF2 isoform 1

See identical proteins and their annotated locations for NP_001139771.1

Status: VALIDATED

Description

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

Source sequence(s)

AC122848, AK029168, AK033601

Consensus CDS

CCDS50265.1

UniProtKB/Swiss-Prot

B2RQJ2, Q80VJ1, Q8BZT2, Q8C122, Q8C1E3

Related

ENSMUSP00000071896.5, ENSMUST00000072008.11

Conserved Domains (4) summary

cd11784
Location:386 → 440

SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2

cd11929
Location:128 → 181

SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2

cd11932
Location:191 → 247

SH3_SH3RF2_2; Second Src Homology 3 domain of SH3 domain containing ring finger 2

cd16749
Location:11 → 55

RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins
NM_172966.3 → NP_766554.2 E3 ubiquitin-protein ligase SH3RF2 isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. This difference results in a shorter protein (isoform 2) that lacks an Src homology 3 domain, compared to isoform 1.

Source sequence(s)

AC122848, AK029168, AK033601

Consensus CDS

CCDS29210.1

UniProtKB/Swiss-Prot

Q8BZT2

Related

ENSMUSP00000074247.4, ENSMUST00000074679.4

Conserved Domains (4) summary

cd11784
Location:354 → 408

SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2

cd11929
Location:128 → 181

SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2

cd16749
Location:11 → 55

RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins

cl17036
Location:191 → 219

SH3; Src Homology 3 domain superfamily

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_000084.7 Reference GRCm39 C57BL/6J

Range

42185531..42291760

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006525955.3 → XP_006526018.1 E3 ubiquitin-protein ligase SH3RF2 isoform X1

See identical proteins and their annotated locations for XP_006526018.1

UniProtKB/Swiss-Prot

B2RQJ2, Q80VJ1, Q8BZT2, Q8C122, Q8C1E3

Conserved Domains (4) summary

cd11784
Location:386 → 440

SH3_SH3RF2_3; Third Src Homology 3 domain of SH3 domain containing ring finger 2

cd11929
Location:128 → 181

SH3_SH3RF2_1; First Src Homology 3 domain of SH3 domain containing ring finger 2

cd11932
Location:191 → 247

SH3_SH3RF2_2; Second Src Homology 3 domain of SH3 domain containing ring finger 2

cd16749
Location:11 → 55

RING-HC_SH3RF2; RING finger, HC subclass, found in SH3 domain-containing RING finger protein 2 (SH3RF2) and similar proteins