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

Gene ID: 285590, updated on 8-Oct-2017
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; Vega:OTTHUMG00000163280
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]
Orthologs
Location:
5q35.1
Exon count:
15
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 5 NC_000005.10 (172325181..172454523, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (171752185..171881527, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene ubiquitin domain containing 2 Neighboring gene Kruppel like factor 3 pseudogene 1 Neighboring gene uncharacterized LOC100288254 Neighboring gene uncharacterized LOC105377727 Neighboring gene uncharacterized LOC107984004 Neighboring gene long intergenic non-protein coding RNA 1944

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

NHGRI GWAS Catalog

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

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ20831

Gene Ontology Provided by GOA

Function Evidence Code Pubs
SH2 domain binding ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol-3,5-bisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
phosphatidylinositol-3,5-bisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol-3-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
phosphatidylinositol-3-phosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol-4-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
phosphatidylinositol-5-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
 
phosphatidylinositol-5-phosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
superoxide-generating NADPH oxidase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
adipose tissue development ISS
Inferred from Sequence or Structural Similarity
more info
 
bone development IMP
Inferred from Mutant Phenotype
more info
PubMed 
cranial skeletal system development IEA
Inferred from Electronic Annotation
more info
 
extracellular matrix disassembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
eye development IMP
Inferred from Mutant Phenotype
more info
PubMed 
heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
osteoblast fate commitment IEA
Inferred from Electronic Annotation
more info
 
oxidation-reduction process IBA
Inferred from Biological aspect of Ancestor
more info
 
podosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
podosome assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of adipose tissue development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of fat cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
positive regulation of multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
positive regulation of stress fiber assembly IEA
Inferred from Electronic Annotation
more info
 
protein localization to membrane IDA
Inferred from Direct Assay
more info
PubMed 
regulation of brood size IEA
Inferred from Electronic Annotation
more info
 
skeletal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
skeletal system morphogenesis IEA
Inferred from Electronic Annotation
more info
 
superoxide metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cell junction IEA
Inferred from Electronic Annotation
more info
 
cell projection IEA
Inferred from Electronic Annotation
more info
 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
podosome IBA
Inferred from Biological aspect of Ancestor
more info
 
podosome ISS
Inferred from Sequence or Structural Similarity
more info
 
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

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
    5001..126025
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001017995.2NP_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, AC090064, AK128871, BC038561, CA308160
    Consensus CDS
    CCDS34291.1
    UniProtKB/Swiss-Prot
    A1X283
    Related
    ENSP00000309714.5, OTTHUMP00000223471, ENST00000311601.5, OTTHUMT00000372449
    Conserved Domains (5) summary
    cd06888
    Location:7125
    PX_FISH; The phosphoinositide binding Phox Homology domain of Five SH protein
    cd12018
    Location:854909
    SH3_Tks4_4; Fourth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
    cd12075
    Location:155209
    SH3_Tks4_1; First Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
    cd12076
    Location:224277
    SH3_Tks4_2; Second Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
    cd12078
    Location:372424
    SH3_Tks4_3; Third Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
  2. NM_001308175.1NP_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)
    AK128871, BC038561
    Consensus CDS
    CCDS78084.1
    UniProtKB/TrEMBL
    G3V144
    Related
    ENSP00000430890.1, OTTHUMP00000223472, ENST00000519643.5, OTTHUMT00000372450
    Conserved Domains (4) summary
    cd06888
    Location:7125
    PX_FISH; The phosphoinositide binding Phox Homology domain of Five SH protein
    cd12075
    Location:155209
    SH3_Tks4_1; First Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
    cd12076
    Location:224277
    SH3_Tks4_2; Second Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
    cl17036
    Location:372396
    SH3; Src Homology 3 domain superfamily

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p7 Primary Assembly

    Range
    172325181..172454523 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Alternate CHM1_1.1

Genomic

  1. NC_018916.2 Alternate CHM1_1.1

    Range
    171185216..171314268 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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