Sh3pxd2b SH3 and PX domains 2B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sh3pxd2bprovided by MGI
Official Full Name: SH3 and PX domains 2Bprovided by MGI
Primary source: MGI:MGI:2442062
See related: Ensembl:ENSMUSG00000040711 AllianceGenome:MGI:2442062
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: TSK4; Tks4; fad49; G431001E03Rik
Summary: Enables SH2 domain binding activity and phosphatidylinositol phosphate binding activity. Involved in several processes, including osteoblast fate commitment; podosome assembly; and skeletal system development. Located in cytoplasm and podosome. Is expressed in several structures, including branchial arch; central nervous system; heart; jaw; and skeleton. Used to study glaucoma and otitis media. Human ortholog(s) of this gene implicated in Frank-Ter Haar syndrome. Orthologous to human SH3PXD2B (SH3 and PX domains 2B). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in limb E14.5 (RPKM 16.7), subcutaneous fat pad adult (RPKM 14.8) and 22 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 A4; 11 18.89 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (32297777..32378189)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (32347773..32428189)

Chromosome 11 - NC_000077.7 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?

Enhanced endothelial motility and multicellular sprouting is mediated by the scaffold protein TKS4.
Title: Enhanced endothelial motility and multicellular sprouting is mediated by the scaffold protein TKS4.
Beigeing process was more robust in the WAT of Tks4-KO mice compared to the wild-type animals.
Title: Analysis of Tks4 Knockout Mice Suggests a Role for Tks4 in Adipose Tissue Homeostasis in the Context of Beigeing.
together, these results establish a novel function for Tks4 in the regulation of mesenchymal stromal cells differentiation.
Title: The scaffold protein Tks4 is required for the differentiation of mesenchymal stromal cells (MSCs) into adipogenic and osteogenic lineages.
Suggest the importance of Tks adaptor proteins in melanoma growth and metastasis in vivo is likely via functional invadopodia formation.
Title: The role of Tks adaptor proteins in invadopodia formation, growth and metastasis of melanoma.
eyes of B10-Sh3pxd2bnee mice exhibit multiple features of congenital glaucoma.
Title: Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b.
The mouse model with a mutation in the Sh3pxd2b gene (Sh3pxd2b(nee)) mirrors craniofacial dysmorphology and otitis media in humans.
Title: Sh3pxd2b mice are a model for craniofacial dysmorphology and otitis media.
These findings establish a role for TKS4 in Frank-Ter Haar syndrome and embryonic development.
Title: Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.
SH3PXD2B is a podosomal-adaptor protein required for postnatal growth and development.
Title: The podosomal-adaptor protein SH3PXD2B is essential for normal postnatal development.
Tks4 has a role in the formation and function of podosomes.
Title: The novel adaptor protein Tks4 (SH3PXD2B) is required for functional podosome formation.
Silencing of C/EBPdelta impaired the expression of factor for adipocyte differentiation (fad) 49, which is up-regulated and plays a crucial role early in adipogenesis.
Title: The role of C/EBPdelta in the early stages of adipogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

Endonuclease-mediated (1)
Gene trapped (2) 1 citation
Spontaneous (1) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

20.MMHAP35FLG2.seq (e-PCR)
- UniSTS:123470

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables SH2 domain binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3-phosphate binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables phosphatidylinositol-4-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-5-phosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables superoxide-generating NADPH oxidase activator activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in adipose tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone development	ISO Inferred from Sequence Orthology more info
involved_in cranial skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in extracellular matrix disassembly	ISO Inferred from Sequence Orthology more info
involved_in eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye development	ISO Inferred from Sequence Orthology more info
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	ISO Inferred from Sequence Orthology more info
involved_in osteoblast fate commitment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in podosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of adipose tissue development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of fat cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of stress fiber assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to membrane	ISO Inferred from Sequence Orthology more info
involved_in protein localization to membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of brood size	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal system development	ISO Inferred from Sequence Orthology more info
involved_in skeletal system morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in superoxide anion generation	IBA Inferred from Biological aspect of Ancestor more info
involved_in superoxide metabolic process	ISO Inferred from Sequence Orthology more info
involved_in superoxide metabolic process	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in podosome	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: SH3 and PX domain-containing protein 2B

Names: factor for adipocyte differentiation 49; tyrosine kinase substrate with four SH3 domains

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_177364.4 → NP_796338.2 SH3 and PX domain-containing protein 2B

See identical proteins and their annotated locations for NP_796338.2

Status: VALIDATED

Source sequence(s)

AK089330, AL662780, BY197208

Consensus CDS

CCDS24526.1

UniProtKB/Swiss-Prot

A2AAY5, B6F0V1, Q1LZL8, Q1LZM5, Q3TB89, Q8BIC6

UniProtKB/TrEMBL

B9EJ37

Related

ENSMUSP00000044276.6, ENSMUST00000038753.6

Conserved Domains (5) summary

cd06888
Location:7 → 125

PX_FISH; The phosphoinositide binding Phox Homology domain of Five SH protein

cd12018
Location:851 → 906

SH3_Tks4_4; Fourth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains

cd12075
Location:155 → 209

SH3_Tks4_1; First Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains

cd12076
Location:224 → 277

SH3_Tks4_2; Second Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains

cd12078
Location:372 → 424

SH3_Tks4_3; Third Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains

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_000077.7 Reference GRCm39 C57BL/6J

Range

32297777..32378189

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006514712.3 → XP_006514775.1 SH3 and PX domain-containing protein 2B isoform X1

UniProtKB/TrEMBL

A0A5F8MPP7, B9EJ37

Related

ENSMUSP00000158896.2, ENSMUST00000239041.2

Conserved Domains (5) summary

cd06888
Location:7 → 125

PX_FISH; The phosphoinositide binding Phox Homology domain of Five SH protein

cd12018
Location:879 → 934

SH3_Tks4_4; Fourth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains

cd12075
Location:155 → 209

SH3_Tks4_1; First Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains

cd12076
Location:252 → 305

SH3_Tks4_2; Second Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains

cd12078
Location:400 → 452

SH3_Tks4_3; Third Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains