U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from OMIM

    • Showing Current items.

    SH3PXD2A SH3 and PX domains 2A [ Homo sapiens (human) ]

    Gene ID: 9644, updated on 28-Oct-2024

    Summary

    Official Symbol
    SH3PXD2Aprovided by HGNC
    Official Full Name
    SH3 and PX domains 2Aprovided by HGNC
    Primary source
    HGNC:HGNC:23664
    See related
    Ensembl:ENSG00000107957 MIM:619455; AllianceGenome:HGNC:23664
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FISH; TKS5; SH3MD1
    Summary
    Predicted to enable superoxide-generating NADPH oxidase activator activity. Involved in osteoclast fusion and superoxide metabolic process. Located in podosome. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in endometrium (RPKM 4.2), ovary (RPKM 3.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SH3PXD2A in Genome Data Viewer
    Location:
    10q24.33
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (103594027..103855576, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (104481342..104742826, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (105353784..105615334, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2781 Neighboring gene NEURL1 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2782 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105253807-105254356 Neighboring gene Sharpr-MPRA regulatory region 14515 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3966 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:105287340-105287840 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:105287841-105288341 Neighboring gene neuralized E3 ubiquitin protein ligase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105323539-105324519 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105329056-105329556 Neighboring gene uncharacterized LOC124902496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2785 Neighboring gene Sharpr-MPRA regulatory region 3797 Neighboring gene Sharpr-MPRA regulatory region 15000 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105367121-105367978 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105380856-105381356 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105395283-105395862 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105396445-105397024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105399548-105400343 Neighboring gene Sharpr-MPRA regulatory region 2777 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105417537-105418038 Neighboring gene uncharacterized LOC124902495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3967 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3968 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105441739-105442519 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3969 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3970 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105451952-105452918 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105455468-105456214 Neighboring gene NFE2L2 motif-containing MPRA enhancer 292 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105467435-105468414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105468415-105469393 Neighboring gene NANOG hESC enhancer GRCh37_chr10:105482339-105482840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105491951-105492499 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105492500-105493047 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105505582-105506103 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105506520-105507020 Neighboring gene SH3PXD2A antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105507021-105507521 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105515685-105516342 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105516343-105516998 Neighboring gene Sharpr-MPRA regulatory region 10495 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3974 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2789 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105531100-105532070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105539219-105539718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105544793-105545294 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105549545-105550545 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:105560029-105560530 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2790 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105563531-105564374 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:105567495-105567996 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105594413-105594969 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105594970-105595525 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105667461-105668062 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 10:105668179 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105677593-105678238 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:105686883-105687548 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:105688215-105688880 Neighboring gene STN1 subunit of CST complex Neighboring gene uncharacterized LOC102724351 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2792

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables phosphatidylinositol-3,4-bisphosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol-3-phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol-4,5-bisphosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol-4-phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphatidylinositol-5-phosphate binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protease binding IEA
    Inferred from Electronic Annotation
    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 in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in osteoclast fusion 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 
    involved_in superoxide metabolic process IMP
    Inferred from Mutant Phenotype
    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 cytosol TAS
    Traceable Author Statement
    more info
     
    located_in podosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    SH3 and PX domain-containing protein 2A
    Names
    SH3 multiple domains 1
    adapter protein TKS5
    adaptor protein TKS5
    five SH3 domain-containing protein
    tyrosine kinase substrate with five SH3 domains

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001365079.1NP_001352008.1  SH3 and PX domain-containing protein 2A isoform 2

      Status: VALIDATED

      Source sequence(s)
      AK304828, AL121929
      UniProtKB/TrEMBL
      B7Z9C6
      Conserved Domains (6) summary
      cd12019
      Location:725777
      SH3_Tks5_4; Fourth Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12020
      Location:9571013
      SH3_Tks5_5; Fifth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12074
      Location:51103
      SH3_Tks5_1; First Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12077
      Location:150203
      SH3_Tks5_2; Second Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12079
      Location:332385
      SH3_Tks5_3; Third Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      TIGR04211
      Location:741826
      SH3_and_anchor; SH3 domain protein
    2. NM_001394015.1NP_001380944.1  SH3 and PX domain-containing protein 2A isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL121929, AL133355
      Consensus CDS
      CCDS91343.1
      UniProtKB/Swiss-Prot
      D3DR98, O43302, Q5TCZ1, Q5TCZ2, Q5TDQ8
      UniProtKB/TrEMBL
      B3KPL1
      Related
      ENSP00000358789.4, ENST00000369774.9
      Conserved Domains (6) summary
      cd06888
      Location:6124
      PX_FISH; The phosphoinositide binding Phox Homology domain of Five SH protein
      cd12019
      Location:844896
      SH3_Tks5_4; Fourth Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12020
      Location:10761132
      SH3_Tks5_5; Fifth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12074
      Location:170222
      SH3_Tks5_1; First Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12077
      Location:269322
      SH3_Tks5_2; Second Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12079
      Location:451504
      SH3_Tks5_3; Third Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
    3. NM_001394016.1NP_001380945.1  SH3 and PX domain-containing protein 2A isoform 4

      Status: VALIDATED

      Source sequence(s)
      AL121929
      UniProtKB/TrEMBL
      B7Z2H8
      Conserved Domains (6) summary
      cd12019
      Location:721773
      SH3_Tks5_4; Fourth Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12020
      Location:9531009
      SH3_Tks5_5; Fifth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12074
      Location:4799
      SH3_Tks5_1; First Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12077
      Location:146199
      SH3_Tks5_2; Second Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      TIGR04211
      Location:737822
      SH3_and_anchor; SH3 domain protein
      cl17036
      Location:328381
      SH3; Src Homology 3 domain superfamily
    4. NM_001394017.1NP_001380946.1  SH3 and PX domain-containing protein 2A isoform 5

      Status: VALIDATED

      Source sequence(s)
      AL121929
      UniProtKB/TrEMBL
      B7Z286
      Conserved Domains (6) summary
      cd12019
      Location:711763
      SH3_Tks5_4; Fourth Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12020
      Location:943999
      SH3_Tks5_5; Fifth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12074
      Location:3789
      SH3_Tks5_1; First Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12077
      Location:136189
      SH3_Tks5_2; Second Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12079
      Location:318371
      SH3_Tks5_3; Third Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      TIGR04211
      Location:727812
      SH3_and_anchor; SH3 domain protein
    5. NM_001394018.1NP_001380947.1  SH3 and PX domain-containing protein 2A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL121929
      UniProtKB/TrEMBL
      B7Z286
      Conserved Domains (6) summary
      cd12019
      Location:706758
      SH3_Tks5_4; Fourth Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12020
      Location:938994
      SH3_Tks5_5; Fifth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12074
      Location:3284
      SH3_Tks5_1; First Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12077
      Location:131184
      SH3_Tks5_2; Second Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12079
      Location:313366
      SH3_Tks5_3; Third Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      TIGR04211
      Location:722807
      SH3_and_anchor; SH3 domain protein
    6. NM_001394019.1NP_001380948.1  SH3 and PX domain-containing protein 2A isoform 7

      Status: VALIDATED

      Source sequence(s)
      AL121929
      UniProtKB/TrEMBL
      B7Z2H8, B7Z9L8
      Conserved Domains (5) summary
      cd12019
      Location:693745
      SH3_Tks5_4; Fourth Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12020
      Location:925981
      SH3_Tks5_5; Fifth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12074
      Location:4799
      SH3_Tks5_1; First Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12077
      Location:118171
      SH3_Tks5_2; Second Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cl17036
      Location:300353
      SH3; Src Homology 3 domain superfamily
    7. NM_001394020.1NP_001380949.1  SH3 and PX domain-containing protein 2A isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL121929
      UniProtKB/TrEMBL
      B7Z286
      Conserved Domains (6) summary
      cd12019
      Location:679731
      SH3_Tks5_4; Fourth Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12020
      Location:911967
      SH3_Tks5_5; Fifth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12074
      Location:557
      SH3_Tks5_1; First Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12077
      Location:104157
      SH3_Tks5_2; Second Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12079
      Location:286339
      SH3_Tks5_3; Third Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      TIGR04211
      Location:695780
      SH3_and_anchor; SH3 domain protein
    8. NM_001394021.1NP_001380950.1  SH3 and PX domain-containing protein 2A isoform 9

      Status: VALIDATED

      Source sequence(s)
      AL121929
      UniProtKB/TrEMBL
      B7Z2H8
      Conserved Domains (6) summary
      cd12019
      Location:678730
      SH3_Tks5_4; Fourth Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12020
      Location:910966
      SH3_Tks5_5; Fifth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12074
      Location:3284
      SH3_Tks5_1; First Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12077
      Location:103156
      SH3_Tks5_2; Second Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12079
      Location:285338
      SH3_Tks5_3; Third Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      TIGR04211
      Location:694779
      SH3_and_anchor; SH3 domain protein
    9. NM_001394022.1NP_001380951.1  SH3 and PX domain-containing protein 2A isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL121929
      UniProtKB/TrEMBL
      B7Z286
      Conserved Domains (5) summary
      cd12019
      Location:651703
      SH3_Tks5_4; Fourth Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12020
      Location:883939
      SH3_Tks5_5; Fifth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12074
      Location:557
      SH3_Tks5_1; First Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12077
      Location:76129
      SH3_Tks5_2; Second Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cl17036
      Location:258311
      SH3; Src Homology 3 domain superfamily
    10. NM_001394023.1NP_001380952.1  SH3 and PX domain-containing protein 2A isoform 10

      Status: VALIDATED

      Source sequence(s)
      AL121929
      UniProtKB/TrEMBL
      B7Z286
      Conserved Domains (5) summary
      cd12019
      Location:651703
      SH3_Tks5_4; Fourth Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12020
      Location:883939
      SH3_Tks5_5; Fifth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12074
      Location:557
      SH3_Tks5_1; First Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12077
      Location:76129
      SH3_Tks5_2; Second Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cl17036
      Location:258311
      SH3; Src Homology 3 domain superfamily
    11. NM_014631.3NP_055446.2  SH3 and PX domain-containing protein 2A isoform 1

      See identical proteins and their annotated locations for NP_055446.2

      Status: VALIDATED

      Source sequence(s)
      AB007878, AK056469, AL121929, AL133355, BX647371, CN307901
      Consensus CDS
      CCDS31278.1
      UniProtKB/TrEMBL
      B3KPL1
      Related
      ENSP00000348215.2, ENST00000355946.7
      Conserved Domains (6) summary
      cd06888
      Location:6124
      PX_FISH; The phosphoinositide binding Phox Homology domain of Five SH protein
      cd12019
      Location:816868
      SH3_Tks5_4; Fourth Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12020
      Location:10481104
      SH3_Tks5_5; Fifth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12074
      Location:170222
      SH3_Tks5_1; First Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12077
      Location:241294
      SH3_Tks5_2; Second Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains
      cd12079
      Location:423476
      SH3_Tks5_3; Third Src homology 3 domain of Tyrosine kinase substrate with five SH3 domains

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      103594027..103855576 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      104481342..104742826 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)