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

    Gene ID: 285590, updated on 5-Mar-2024

    Summary

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    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

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    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_000005.10Genomic Context describing neighboring genes Neighboring gene ubiquitin domain containing 2 Neighboring gene KLF3 pseudogene 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:171710845-171711445 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:171711446-171712045 Neighboring gene uncharacterized LOC100288254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171762901-171763762 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:171788418-171789617 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16621 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23637 Neighboring gene MPRA-validated peak5578 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171839705-171840206 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171845006-171845982 Neighboring gene Sharpr-MPRA regulatory region 10478 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171858257-171858757 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:171859347-171859604 Neighboring gene Sharpr-MPRA regulatory region 6627 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:171880495-171881016 Neighboring gene uncharacterized LOC105377727 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171906087-171906708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:171906709-171907328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:171911421-171911922 Neighboring gene uncharacterized LOC107984004 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23638 Neighboring gene Sharpr-MPRA regulatory region 3838 Neighboring gene long intergenic non-protein coding RNA 1944

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Comprehensive bioinformatics and experimental analysis of SH3PXD2B reveals its carcinogenic effect in gastric carcinoma. Zhu Y, et al. Life Sci, 2023 Aug 1. PMID 37211344
    2. Absence of Scaffold Protein Tks4 Disrupts Several Signaling Pathways in Colon Cancer Cells. Jacksi M, et al. Int J Mol Sci, 2023 Jan 9. PMID 36674824, Free PMC Article
    3. Absence of the Tks4 Scaffold Protein Induces Epithelial-Mesenchymal Transition-Like Changes in Human Colon Cancer Cells. Szeder B, et al. Cells, 2019 Oct 29. PMID 31671862, Free PMC Article
    4. Ophthalmic findings in Frank-ter Haar syndrome: report of a sibling pair. Chang TC, et al. J AAPOS, 2017 Dec. PMID 29100834
    5. Accumulation of the PX domain mutant Frank-ter Haar syndrome protein Tks4 in aggresomes. Ádám C, et al. Cell Commun Signal, 2015 Jul 17. PMID 26183326, Free PMC Article

    See all (61) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. Significance of the Tks4 scaffold protein in bone tissue homeostasis.
      Title: Significance of the Tks4 scaffold protein in bone tissue homeostasis.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20831

    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

    1. NG_027746.2 RefSeqGene

      Range
      4999..126025
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. 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

    2. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      172325181..172454525 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009351.2 → XP_016864840.1  SH3 and PX domain-containing protein 2B isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      172865440..172994533 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352393.1 → XP_054208368.1  SH3 and PX domain-containing protein 2B isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A1X283.3 GenPept UniProtKB/Swiss-Prot:A1X283

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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