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] See more...

Aliases for FSD2 Gene

Aliases for FSD2 Gene

  • Fibronectin Type III And SPRY Domain Containing 2 2 3 5
  • Fibronectin Type III And SPRY Domain-Containing Protein 2 3 4
  • SPRY Domain-Containing Protein 1 3 4
  • SPRY Domain Containing 1 2 3
  • Minispryn 2 3
  • SPRYD1 3 4

External Ids for FSD2 Gene

Previous HGNC Symbols for FSD2 Gene

  • SPRYD1

Previous GeneCards Identifiers for FSD2 Gene

  • GC15M081222
  • GC15M083424

Summaries for FSD2 Gene

Entrez Gene Summary for FSD2 Gene

  • 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]

GeneCards Summary for FSD2 Gene

FSD2 (Fibronectin Type III And SPRY Domain Containing 2) is a Protein Coding gene. An important paralog of this gene is CMYA5.

Additional gene information for FSD2 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FSD2 Gene

Genomics for FSD2 Gene

GeneHancer (GH) Regulatory Elements for FSD2 Gene

Promoters and enhancers for FSD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FSD2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FSD2

Top Transcription factor binding sites by QIAGEN in the FSD2 gene promoter:
  • FOXF2
  • GCNF
  • GCNF-1
  • GCNF-2
  • Meis-1
  • Meis-1a
  • MIF-1
  • RFX1
  • SEF-1 (1)
  • YY1

Genomic Locations for FSD2 Gene

Genomic Locations for FSD2 Gene
chr15:82,755,362-82,806,211
(GRCh38/hg38)
Size:
50,850 bases
Orientation:
Minus strand
chr15:83,424,114-83,474,822
(GRCh37/hg19)
Size:
50,709 bases
Orientation:
Minus strand

Genomic View for FSD2 Gene

Genes around FSD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FSD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FSD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FSD2 Gene

Proteins for FSD2 Gene

  • Protein details for FSD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    A1L4K1-FSD2_HUMAN
    Recommended name:
    Fibronectin type III and SPRY domain-containing protein 2
    Protein Accession:
    A1L4K1
    Secondary Accessions:
    • B3KVG1
    • B7ZM02

    Protein attributes for FSD2 Gene

    Size:
    749 amino acids
    Molecular mass:
    85385 Da
    Quaternary structure:
    • Interacts with CMYA5 (By similarity). In cardiac muscles, identified in a complex composed of FSD2, CMYA5 and RYR2 (By similarity).

    Alternative splice isoforms for FSD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FSD2 Gene

Post-translational modifications for FSD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FSD2 Gene

Domains & Families for FSD2 Gene

Gene Families for FSD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FSD2 Gene

Suggested Antigen Peptide Sequences for FSD2 Gene

GenScript: Design optimal peptide antigens:
  • FSD2 protein (B7ZM05_HUMAN)
  • SPRY domain-containing protein 1 (FSD2_HUMAN)
genes like me logo Genes that share domains with FSD2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FSD2 Gene

Function for FSD2 Gene

Phenotypes From GWAS Catalog for FSD2 Gene

Gene Ontology (GO) - Molecular Function for FSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with FSD2: view

Phenotypes for FSD2 Gene

genes like me logo Genes that share phenotypes with FSD2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FSD2 Gene

Localization for FSD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FSD2 Gene

Nucleus. Sarcoplasmic reticulum. Cytoplasm, perinuclear region. Note=In skeletal muscles and striated muscles flanks Z-disks. Partially colocalizes with RYR2 in the sarcoplasmic reticulum. {ECO:0000250 UniProtKB:H0UZ81}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FSD2 gene
Compartment Confidence
nucleus 4
endoplasmic reticulum 4
cytosol 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0005737 cytoplasm IEA --
GO:0016529 sarcoplasmic reticulum ISS --
GO:0048471 perinuclear region of cytoplasm ISS --
genes like me logo Genes that share ontologies with FSD2: view

Pathways & Interactions for FSD2 Gene

PathCards logo

SuperPathways for FSD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FSD2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FSD2 Gene

Drugs & Compounds for FSD2 Gene

No Compound Related Data Available

Transcripts for FSD2 Gene

mRNA/cDNA for FSD2 Gene

3 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FSD2 Gene

No ASD Table

Relevant External Links for FSD2 Gene

GeneLoc Exon Structure for
FSD2

Expression for FSD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FSD2 Gene

mRNA differential expression in normal tissues according to GTEx for FSD2 Gene

This gene is overexpressed in Muscle - Skeletal (x9.6), Heart - Left Ventricle (x9.4), and Heart - Atrial Appendage (x6.3).

Protein differential expression in normal tissues from HIPED for FSD2 Gene

This gene is overexpressed in Breast (64.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FSD2 Gene



Protein tissue co-expression partners for FSD2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FSD2

SOURCE GeneReport for Unigene cluster for FSD2 Gene:

Hs.719372

Evidence on tissue expression from TISSUES for FSD2 Gene

  • Muscle(2.2)
genes like me logo Genes that share expression patterns with FSD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FSD2 Gene

Orthologs for FSD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FSD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FSD2 31 30
  • 99.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FSD2 31 30
  • 87.02 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fsd2 30
  • 83.49 (n)
mouse
(Mus musculus)
Mammalia Fsd2 17 31 30
  • 83.38 (n)
dog
(Canis familiaris)
Mammalia FSD2 31 30
  • 82.71 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FSD2 31
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FSD2 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves FSD2 31 30
  • 64.11 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FSD2 31
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fsd2 30
  • 59.02 (n)
zebrafish
(Danio rerio)
Actinopterygii FSD2 31
  • 44 (a)
OneToOne
Species where no ortholog for FSD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FSD2 Gene

ENSEMBL:
Gene Tree for FSD2 (if available)
TreeFam:
Gene Tree for FSD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FSD2: view image

Paralogs for FSD2 Gene

Paralogs for FSD2 Gene

(1) SIMAP similar genes for FSD2 Gene using alignment to 4 proteins:

  • FSD2_HUMAN
  • B7ZM02_HUMAN
  • B7ZM05_HUMAN
  • H0YLA8_HUMAN
genes like me logo Genes that share paralogs with FSD2: view

Variants for FSD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FSD2 Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
rs1108134 - p.Glu720Lys
rs4779061 - p.Lys333Thr

Additional dbSNP identifiers (rs#s) for FSD2 Gene

Structural Variations from Database of Genomic Variants (DGV) for FSD2 Gene

Variant ID Type Subtype PubMed ID
dgv2637n100 CNV gain 25217958
esv2674021 CNV deletion 23128226
esv34318 CNV loss 17911159
esv3581791 CNV loss 25503493
nsv1120052 OTHER inversion 24896259
nsv469557 CNV loss 16826518
nsv471687 CNV gain 15918152
nsv817702 CNV loss 17921354

Variation tolerance for FSD2 Gene

Residual Variation Intolerance Score: 91.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.38; 81.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FSD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FSD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FSD2 Gene

Disorders for FSD2 Gene

Additional Disease Information for FSD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for FSD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FSD2 Gene

Publications for FSD2 Gene

  1. Ryanodine receptors are part of the myospryn complex in cardiac muscle. (PMID: 28740084) Benson MA … Blake DJ (Scientific reports 2017) 2 3 54
  2. Genomewide linkage and peakwide association analyses of carotid plaque in Caribbean Hispanics. (PMID: 20966410) Dong C … Sacco RL (Stroke 2010) 3 41 54
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. (PMID: 29987050) Xiao T … Brown M (Proceedings of the National Academy of Sciences of the United States of America 2018) 3 54
  5. Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N … Vidal M (Cell 2015) 3 54

Products for FSD2 Gene

Sources for FSD2 Gene