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    FSD2 fibronectin type III and SPRY domain containing 2 [ Homo sapiens (human) ]

    Gene ID: 123722, updated on 2-Nov-2024

    Summary

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    Official Symbol
    FSD2provided by HGNC
    Official Full Name
    fibronectin type III and SPRY domain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:18024
    See related
    Ensembl:ENSG00000186628 AllianceGenome:HGNC:18024
    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
    SPRYD1
    Summary
    This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
    Expression
    Biased expression in heart (RPKM 7.7), prostate (RPKM 0.9) and 6 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FSD2 in Genome Data Viewer
    Location:
    15q25.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (82755362..82806069, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (80619626..80670359, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (83424114..83474821, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene epididymal protein pseudogene Neighboring gene actin gamma 1 pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9965 Neighboring gene MPRA-validated peak2404 silencer Neighboring gene small Cajal body-specific RNA 15 Neighboring gene small nucleolar RNA host gene 21 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:83450989-83451154 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6754 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6756 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:83501038-83502237 Neighboring gene WASP homolog associated with actin, golgi membranes and microtubules Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:83518553-83519328 Neighboring gene homer scaffold protein 2 Neighboring gene uncharacterized LOC105370928

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Ryanodine receptors are part of the myospryn complex in cardiac muscle. Benson MA, et al. Sci Rep, 2017 Jul 24. PMID 28740084, Free PMC Article
    2. Genomewide linkage and peakwide association analyses of carotid plaque in Caribbean Hispanics. Dong C, et al. Stroke, 2010 Dec. PMID 20966410, Free PMC Article
    3. Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. Corominas R, et al. Nat Commun, 2014 Apr 11. PMID 24722188, Free PMC Article
    4. The cell proliferation antigen Ki-67 organises heterochromatin. Sobecki M, et al. Elife, 2016 Mar 7. PMID 26949251, Free PMC Article
    5. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. Blandin G, et al. Skelet Muscle, 2013 Feb 15. PMID 23414517, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in perinuclear region of cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    fibronectin type III and SPRY domain-containing protein 2
    Names
    SPRY domain containing 1
    SPRY domain-containing protein 1
    minispryn

    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)

    1. NM_001007122.4 → NP_001007123.1  fibronectin type III and SPRY domain-containing protein 2 isoform a

      See identical proteins and their annotated locations for NP_001007123.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC105339, AK122875, AL833295
      Consensus CDS
      CCDS45332.1
      UniProtKB/Swiss-Prot
      A1L4K1, B3KVG1, B7ZM02
      UniProtKB/TrEMBL
      B7ZM05
      Related
      ENSP00000335651.8, ENST00000334574.12
      Conserved Domains (4) summary
      smart00060
      Location:372 → 457
      FN3; Fibronectin type 3 domain
      cd00063
      Location:469 → 561
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12899
      Location:565 → 740
      SPRY_PRY_TRIM76_like; PRY/SPRY domain in tripartite motif-containing protein 76 (TRIM76)-like
      cl25602
      Location:188 → 333
      DUF3552; Domain of unknown function (DUF3552)

    2. NM_001281805.2 → NP_001268734.1  fibronectin type III and SPRY domain-containing protein 2 isoform b

      See identical proteins and their annotated locations for NP_001268734.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon in the 5' UTR and lacks an alternate in-frame exon compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      AC105339, AL833295, BC144175, DA826684
      Consensus CDS
      CCDS61738.1
      UniProtKB/TrEMBL
      B7ZM05
      Conserved Domains (3) summary
      cd00063
      Location:424 → 516
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12899
      Location:520 → 695
      SPRY_PRY_TRIM76_like; PRY/SPRY domain in tripartite motif-containing protein 76 (TRIM76)-like
      cl23765
      Location:222 → 336
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

    3. NM_001281806.2 → NP_001268735.1  fibronectin type III and SPRY domain-containing protein 2 isoform b

      See identical proteins and their annotated locations for NP_001268735.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon compared to variant 1. The encoded isoform (b) is shorter than isoform a. Variants 2 and 3 encode the same protein.
      Source sequence(s)
      AC105339, AL833295, BC144181, DA826684
      Consensus CDS
      CCDS61738.1
      UniProtKB/TrEMBL
      B7ZM05
      Related
      ENSP00000444078.1, ENST00000541889.1
      Conserved Domains (3) summary
      cd00063
      Location:424 → 516
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12899
      Location:520 → 695
      SPRY_PRY_TRIM76_like; PRY/SPRY domain in tripartite motif-containing protein 76 (TRIM76)-like
      cl23765
      Location:222 → 336
      iSH2_PI3K_IA_R; Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits

    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_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      82755362..82806069 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521235.4 → XP_011519537.1  fibronectin type III and SPRY domain-containing protein 2 isoform X2

      UniProtKB/TrEMBL
      B7ZM05
      Conserved Domains (3) summary
      smart00060
      Location:295 → 380
      FN3; Fibronectin type 3 domain
      cd00063
      Location:392 → 484
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12899
      Location:488 → 663
      SPRY_PRY_TRIM76_like; PRY/SPRY domain in tripartite motif-containing protein 76 (TRIM76)-like

    2. XM_005272425.6 → XP_005272482.1  fibronectin type III and SPRY domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_005272482.1

      UniProtKB/Swiss-Prot
      A1L4K1, B3KVG1, B7ZM02
      UniProtKB/TrEMBL
      B7ZM05
      Conserved Domains (4) summary
      smart00060
      Location:372 → 457
      FN3; Fibronectin type 3 domain
      cd00063
      Location:469 → 561
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12899
      Location:565 → 740
      SPRY_PRY_TRIM76_like; PRY/SPRY domain in tripartite motif-containing protein 76 (TRIM76)-like
      cl25602
      Location:188 → 333
      DUF3552; Domain of unknown function (DUF3552)

    3. XM_024449844.2 → XP_024305612.1  fibronectin type III and SPRY domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A1L4K1, B3KVG1, B7ZM02
      UniProtKB/TrEMBL
      B7ZM05
      Conserved Domains (4) summary
      smart00060
      Location:372 → 457
      FN3; Fibronectin type 3 domain
      cd00063
      Location:469 → 561
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12899
      Location:565 → 740
      SPRY_PRY_TRIM76_like; PRY/SPRY domain in tripartite motif-containing protein 76 (TRIM76)-like
      cl25602
      Location:188 → 333
      DUF3552; Domain of unknown function (DUF3552)

    4. XM_024449845.2 → XP_024305613.1  fibronectin type III and SPRY domain-containing protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A1L4K1, B3KVG1, B7ZM02
      UniProtKB/TrEMBL
      B7ZM05
      Conserved Domains (4) summary
      smart00060
      Location:372 → 457
      FN3; Fibronectin type 3 domain
      cd00063
      Location:469 → 561
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      cd12899
      Location:565 → 740
      SPRY_PRY_TRIM76_like; PRY/SPRY domain in tripartite motif-containing protein 76 (TRIM76)-like
      cl25602
      Location:188 → 333
      DUF3552; Domain of unknown function (DUF3552)

    5. XM_047432156.1 → XP_047288112.1  fibronectin type III and SPRY domain-containing protein 2 isoform X3

    6. XM_017021924.3 → XP_016877413.1  fibronectin type III and SPRY domain-containing protein 2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      80619626..80670359 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054377301.1 → XP_054233276.1  fibronectin type III and SPRY domain-containing protein 2 isoform X2

    2. XM_054377299.1 → XP_054233274.1  fibronectin type III and SPRY domain-containing protein 2 isoform X1

    3. XM_054377298.1 → XP_054233273.1  fibronectin type III and SPRY domain-containing protein 2 isoform X1

    4. XM_054377300.1 → XP_054233275.1  fibronectin type III and SPRY domain-containing protein 2 isoform X1

    5. XM_054377302.1 → XP_054233277.1  fibronectin type III and SPRY domain-containing protein 2 isoform X3

    6. XM_054377303.1 → XP_054233278.1  fibronectin type III and SPRY domain-containing protein 2 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A1L4K1.1 GenPept UniProtKB/Swiss-Prot:A1L4K1

    Gene LinkOut

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