SH3PXD2B SH3 and PX domains 2B [Homo sapiens (human)] - Gene

Summary

Official Symbol: SH3PXD2Bprovided by HGNC
Official Full Name: SH3 and PX domains 2Bprovided by HGNC
Primary source: HGNC:HGNC:29242
See related: Ensembl:ENSG00000174705 MIM:613293; AllianceGenome:HGNC:29242
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: FTHS; HOFI; TKS4; TSK4; FAD49; KIAA1295
Summary: This gene encodes an adapter protein that is characterized by a PX domain and four Src homology 3 domains. The encoded protein is required for podosome formation and is involved in cell adhesion and migration of numerous cell types. Mutations in this gene are the cause of Frank-ter Haar syndrome (FTHS), and also Borrone Dermato-Cardio-Skeletal (BDCS) syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Expression: Ubiquitous expression in gall bladder (RPKM 13.5), endometrium (RPKM 11.8) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q35.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (172325181..172454525, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (172865440..172994533, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (171752185..171881529, complement)

Chromosome 5 - NC_000005.10 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: 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?

Studying the Association of TKS4 and CD2AP Scaffold Proteins and Their Implications in the Partial Epithelial-Mesenchymal Transition (EMT) Process.
Title: Studying the Association of TKS4 and CD2AP Scaffold Proteins and Their Implications in the Partial Epithelial-Mesenchymal Transition (EMT) Process.
Comprehensive bioinformatics and experimental analysis of SH3PXD2B reveals its carcinogenic effect in gastric carcinoma.
Title: Comprehensive bioinformatics and experimental analysis of SH3PXD2B reveals its carcinogenic effect in gastric carcinoma.
Absence of Scaffold Protein Tks4 Disrupts Several Signaling Pathways in Colon Cancer Cells.
Title: Absence of Scaffold Protein Tks4 Disrupts Several Signaling Pathways in Colon Cancer Cells.
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.
Significance of the Tks4 scaffold protein in bone tissue homeostasis.
Title: Significance of the Tks4 scaffold protein in bone tissue homeostasis.
Absence of the Tks4 Scaffold Protein Induces Epithelial-Mesenchymal Transition-Like Changes in Human Colon Cancer Cells.
Title: Absence of the Tks4 Scaffold Protein Induces Epithelial-Mesenchymal Transition-Like Changes in Human Colon Cancer Cells.
The interaction of Tks4 with Src may result in the long term stabilization of the kinase in its active conformation, leading to prolonged Src activity following epidermal growth factor stimulation.
Title: EGF Regulates the Interaction of Tks4 with Src through Its SH2 and SH3 Domains.
We report a sibling pair with Frank-ter Haar syndrome (FTHS) caused by a homozygous, novel mutation pLys133Glnfs*13 in the SH3PXD2B gene.
Title: Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair.
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.
Misfolded Frank-ter Haar syndrome protein Tks4(R43W) is transported via the microtubule system to the aggresomes.
Title: Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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
Frank-Ter Haar syndrome MedGen: C1855305 OMIM: 249420 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope transmembrane glycoprotein gp41	env	A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of SH3 and PX domains 2B (SH3PXD2B; KIAA1295) in peptide-treated PBMCs	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65087 (e-PCR)
- UniSTS:42250

D8S2279 (e-PCR)
- UniSTS:473907

D5S2257E (e-PCR)
- UniSTS:154463

D5S2401 (e-PCR)
- UniSTS:4455

D5S1852 (e-PCR)
- UniSTS:113

RH103701 (e-PCR)
- UniSTS:98026

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables SH2 domain binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-3,5-bisphosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-3-phosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables phosphatidylinositol-5-phosphate binding	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in bone development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in extracellular matrix disassembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in podosome assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein localization to membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in skeletal system development	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	IDA Inferred from Direct Assay more info	PubMed

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	ISS Inferred from Sequence or Structural Similarity more info
located_in podosome	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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

Names: adapter protein HOFI; adaptor protein HOFI; 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.

Genomic

NG_027746.2 RefSeqGene

Range

4999..126025

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001017995.3 → NP_001017995.1 SH3 and PX domain-containing protein 2B isoform a

See identical proteins and their annotated locations for NP_001017995.1

Status: REVIEWED

Description

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

Source sequence(s)

AC008671, AC011407, AC090064, AK128871, BC038561, CA308160

Consensus CDS

CCDS34291.1

UniProtKB/Swiss-Prot

A1X283, B6F0V2, Q9P2Q1

Related

ENSP00000309714.5, ENST00000311601.6

Conserved Domains (5) summary

cd06888
Location:7 → 125

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

cd12018
Location:854 → 909

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
NM_001308175.2 → NP_001295104.1 SH3 and PX domain-containing protein 2B isoform b

See identical proteins and their annotated locations for NP_001295104.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) contains an alternate 3' terminal exon, and it thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a.

Source sequence(s)

AC011407, AK128871, BC038561

Consensus CDS

CCDS78084.1

UniProtKB/TrEMBL

A0A1B0GUF2, G3V144

Related

ENSP00000430890.1, ENST00000519643.5

Conserved Domains (4) summary

cd06888
Location:7 → 125

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

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

cl17036
Location:372 → 396

SH3; Src Homology 3 domain superfamily