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

Gene ID: 123722, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (82755362..82806069, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (80619626..80670359, complement)
105.20220307 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
  • 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_2023_10

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

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