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Aliases for FSIP2 Gene

Aliases for FSIP2 Gene

  • Fibrous Sheath Interacting Protein 2 2 3 5

External Ids for FSIP2 Gene

Previous GeneCards Identifiers for FSIP2 Gene

  • GC02P186813
  • GC02P186435
  • GC02P186318
  • GC02U901571
  • GC02P186603
  • GC02P178463

Summaries for FSIP2 Gene

Entrez Gene Summary for FSIP2 Gene

  • This gene encodes a protein associated with the sperm fibrous sheath. Genes encoding most of the fibrous-sheath associated proteins genes are transcribed only during the postmeiotic period of spermatogenesis. The protein encoded by this gene is specific to spermatogenic cells. Copy number variation in this gene may be associated with testicular germ cell tumors. Pseudogenes associated with this gene are reported on chromosomes 2 and X. [provided by RefSeq, Aug 2016]

GeneCards Summary for FSIP2 Gene

FSIP2 (Fibrous Sheath Interacting Protein 2) is a Protein Coding gene.

Additional gene information for FSIP2 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FSIP2 Gene

Genomics for FSIP2 Gene

GeneHancer (GH) Regulatory Elements for FSIP2 Gene

Promoters and enhancers for FSIP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I185738 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 +0.3 273 1 RB1 MZF1 SIN3A ZNF2 ZNF48 RAD21 GLIS2 CBX5 ZNF143 ZNF391 LOC101927196 FSIP2 RPL21P32
GH02I185290 Enhancer 0.5 ENCODE 10.5 -448.1 -448140 0.8 CTCF ZFP69B FOXA2 FOXA3 SIN3A MNT FOXA1 FSIP2 LOC101927196 LOC105373782 ELF2P4
GH02I185643 Enhancer 0.9 ENCODE dbSUPER 4.2 -94.0 -94006 2.5 ELF3 SOX13 TFAP4 FOXA2 SAP130 ZNF384 CEBPG BATF ZNF644 RARA FSIP2-AS1 LOC101927196 FSIP2 GC02P185663 ELF2P4
GH02I185635 Enhancer 0.5 dbSUPER 4.5 -100.3 -100335 6.2 MAFF ZNF316 MAFG MAFK EMSY LOC101927196 ENSG00000212581 FSIP2-AS1 FSIP2 GC02P185663 ELF2P4
GH02I185623 Enhancer 0.2 dbSUPER 11 -113.8 -113834 3.5 LOC101927196 ENSG00000212581 FSIP2 GC02P185663 ELF2P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FSIP2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for FSIP2 Gene

Genomic Locations for FSIP2 Gene
chr2:185,738,628-185,833,290
(GRCh38/hg38)
Size:
94,663 bases
Orientation:
Plus strand
chr2:186,603,355-186,698,017
(GRCh37/hg19)

Genomic View for FSIP2 Gene

Genes around FSIP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FSIP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FSIP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FSIP2 Gene

Proteins for FSIP2 Gene

  • Protein details for FSIP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5CZC0-FSIP2_HUMAN
    Recommended name:
    Fibrous sheath-interacting protein 2
    Protein Accession:
    Q5CZC0
    Secondary Accessions:
    • Q53TL3
    • Q53TN5
    • Q5HYH2
    • Q6ZTZ5
    • Q6ZU14
    • Q6ZU21

    Protein attributes for FSIP2 Gene

    Size:
    6907 amino acids
    Molecular mass:
    780607 Da
    Quaternary structure:
    • May interact with AKAP4.
    SequenceCaution:
    • Sequence=AAY14863.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AK126051; Type=Frameshift; Positions=6474; Evidence={ECO:0000305}; Sequence=CAI46017.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=CAI46017.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

    Alternative splice isoforms for FSIP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FSIP2 Gene

Post-translational modifications for FSIP2 Gene

No Post-translational modifications

Other Protein References for FSIP2 Gene

No data available for DME Specific Peptides for FSIP2 Gene

Domains & Families for FSIP2 Gene

Gene Families for FSIP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FSIP2 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FSIP2: view

No data available for UniProtKB/Swiss-Prot for FSIP2 Gene

Function for FSIP2 Gene

Phenotypes for FSIP2 Gene

genes like me logo Genes that share phenotypes with FSIP2: view

Animal Model Products

miRNA for FSIP2 Gene

miRTarBase miRNAs that target FSIP2

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FSIP2 Gene

Localization for FSIP2 Gene

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 FSIP2 gene
Compartment Confidence
mitochondrion 4
plasma membrane 1
extracellular 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FSIP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
genes like me logo Genes that share ontologies with FSIP2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FSIP2 Gene

Pathways & Interactions for FSIP2 Gene

SuperPathways for FSIP2 Gene

No Data Available

Interacting Proteins for FSIP2 Gene

Selected Interacting proteins: Q5CZC0-FSIP2_HUMAN for FSIP2 Gene via IID

Symbol External ID(s) Details
AKAP4

Gene Ontology (GO) - Biological Process for FSIP2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for FSIP2 Gene

Drugs & Compounds for FSIP2 Gene

No Compound Related Data Available

Transcripts for FSIP2 Gene

mRNA/cDNA for FSIP2 Gene

Unigene Clusters for FSIP2 Gene

Fibrous sheath interacting protein 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FSIP2 Gene

No ASD Table

Relevant External Links for FSIP2 Gene

GeneLoc Exon Structure for
FSIP2
ECgene alternative splicing isoforms for
FSIP2

Expression for FSIP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FSIP2 Gene

mRNA differential expression in normal tissues according to GTEx for FSIP2 Gene

This gene is overexpressed in Testis (x17.2) and Colon - Transverse (x9.8).

Protein differential expression in normal tissues from HIPED for FSIP2 Gene

This gene is overexpressed in Breast (18.9), Plasma (9.8), and Liver (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FSIP2 Gene



NURSA nuclear receptor signaling pathways regulating expression of FSIP2 Gene:

FSIP2

SOURCE GeneReport for Unigene cluster for FSIP2 Gene:

Hs.98025
genes like me logo Genes that share expression patterns with FSIP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FSIP2 Gene

Orthologs for FSIP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FSIP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FSIP2 33 34
  • 99.36 (n)
cow
(Bos Taurus)
Mammalia FSIP2 33 34
  • 81.57 (n)
dog
(Canis familiaris)
Mammalia FSIP2 33 34
  • 81.02 (n)
mouse
(Mus musculus)
Mammalia Fsip2 33 16 34
  • 75.26 (n)
rat
(Rattus norvegicus)
Mammalia Fsip2 33
  • 73.67 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FSIP2 34
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 50 (a)
OneToMany
-- 34
  • 48 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia FSIP2 34
  • 26 (a)
OneToOne
Species where no ortholog for FSIP2 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)
  • chicken (Gallus gallus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for FSIP2 Gene

ENSEMBL:
Gene Tree for FSIP2 (if available)
TreeFam:
Gene Tree for FSIP2 (if available)

Paralogs for FSIP2 Gene

Pseudogenes.org Pseudogenes for FSIP2 Gene

genes like me logo Genes that share paralogs with FSIP2: view

No data available for Paralogs for FSIP2 Gene

Variants for FSIP2 Gene

Sequence variations from dbSNP and Humsavar for FSIP2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs796052180 likely-benign, Long QT syndrome 185,791,079(+) G/A coding_sequence_variant, missense_variant
rs1000018227 -- 185,797,432(+) T/C coding_sequence_variant, synonymous_variant
rs1000200184 -- 185,761,960(+) G/C intron_variant
rs1000278024 -- 185,757,031(+) T/G intron_variant
rs1000308018 -- 185,832,404(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FSIP2 Gene

Variant ID Type Subtype PubMed ID
nsv584020 CNV loss 21841781
esv3593653 CNV gain 21293372
esv3584232 CNV loss 25503493
esv3575317 CNV gain 25503493
esv2721236 CNV deletion 23290073
dgv7226n54 CNV loss 21841781
dgv4128n100 CNV loss 25217958
dgv4114n100 CNV gain 25217958

Variation tolerance for FSIP2 Gene

Gene Damage Index Score: 15.57; 97.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FSIP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FSIP2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FSIP2 Gene

Disorders for FSIP2 Gene

Additional Disease Information for FSIP2

No disorders were found for FSIP2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FSIP2 Gene

Publications for FSIP2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 2 3 4 58
  2. Whole-exome sequencing reveals the mutational spectrum of testicular germ cell tumours. (PMID: 25609015) Litchfield K … Turnbull C (Nature communications 2015) 3 58
  3. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. (PMID: 26477546) Srour M … Michaud JL (American journal of human genetics 2015) 4 58
  4. Genome-wide association study identifies 5q21 and 9p24.1 (KDM4C) loci associated with alcohol withdrawal symptoms. (PMID: 22072270) Wang KS … Zeng M (Journal of neural transmission (Vienna, Austria : 1996) 2012) 3 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 58

Products for FSIP2 Gene

Sources for FSIP2 Gene

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