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Aliases for SPEF2 Gene

Aliases for SPEF2 Gene

  • Sperm Flagellar 2 2 3 5
  • Cancer/Testis Antigen 122 2 3
  • KPL2 3 4
  • Testis Tissue Sperm-Binding Protein Li 47a 3
  • Sperm Flagellar Protein 2 3
  • Protein KPL2 4
  • KIAA1770 4
  • CT122 3

External Ids for SPEF2 Gene

Summaries for SPEF2 Gene

GeneCards Summary for SPEF2 Gene

SPEF2 (Sperm Flagellar 2) is a Protein Coding gene. Diseases associated with SPEF2 include Primary Ciliary Dyskinesia. GO annotations related to this gene include protein dimerization activity.

UniProtKB/Swiss-Prot for SPEF2 Gene

  • Required for correct axoneme development.

Gene Wiki entry for SPEF2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPEF2 Gene

Genomics for SPEF2 Gene

Regulatory Elements for SPEF2 Gene

Enhancers for SPEF2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F035670 1.2 ENCODE 15.2 +53.5 53526 1.8 SPEF2 RNU7-130P LOC105374724
GH05F035616 0.2 ENCODE 14.2 +0.2 197 2.2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF302 ZNF143 ZNF548 DEK BRIX1 SPEF2 NADK2-AS1 RNU7-130P
GH05F035672 1 FANTOM5 Ensembl ENCODE 13 +55.7 55748 1.7 IL7R SPEF2 RNU7-130P LOC105374724
GH05F034654 1.1 FANTOM5 ENCODE 12.1 -959.2 -959230 7.8 PKNOX1 CREB3L1 SIN3A ZNF2 YY1 FOS SP3 SP5 MXD4 REST RAI14 SPEF2 LOC105374753 GC05P034707
GH05F035664 1.1 Ensembl 11 +47.3 47322 0.6 ZNF366 PRDM1 EGR2 SALL1 SPEF2 LOC105374724 RNU7-130P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around SPEF2 on UCSC Golden Path with GeneCards custom track

Promoters for SPEF2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001278104 122 1800 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF302 ZNF143 ZNF548 DEK

Genomic Location for SPEF2 Gene

Chromosome:
5
Start:
35,617,779 bp from pter
End:
35,814,611 bp from pter
Size:
196,833 bases
Orientation:
Plus strand

Genomic View for SPEF2 Gene

Genes around SPEF2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPEF2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SPEF2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPEF2 Gene

Proteins for SPEF2 Gene

  • Protein details for SPEF2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9C093-SPEF2_HUMAN
    Recommended name:
    Sperm flagellar protein 2
    Protein Accession:
    Q9C093
    Secondary Accessions:
    • Q2TAC9
    • Q96LL6
    • Q9H5C7
    • Q9H5Q7

    Protein attributes for SPEF2 Gene

    Size:
    1822 amino acids
    Molecular mass:
    209811 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15700.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SPEF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPEF2 Gene

Post-translational modifications for SPEF2 Gene

  • Ubiquitination at Lys 982
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SPEF2 Gene

Domains & Families for SPEF2 Gene

Protein Domains for SPEF2 Gene

Suggested Antigen Peptide Sequences for SPEF2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9C093

UniProtKB/Swiss-Prot:

SPEF2_HUMAN :
  • Contains 1 CH (calponin-homology) domain.
Domain:
  • Contains 1 CH (calponin-homology) domain.
genes like me logo Genes that share domains with SPEF2: view

No data available for Gene Families for SPEF2 Gene

Function for SPEF2 Gene

Molecular function for SPEF2 Gene

UniProtKB/Swiss-Prot Function:
Required for correct axoneme development.
genes like me logo Genes that share phenotypes with SPEF2: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPEF2 Gene

Localization for SPEF2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SPEF2 Gene COMPARTMENTS Subcellular localization image for SPEF2 gene
Compartment Confidence
cytosol 3
golgi apparatus 3
cytoskeleton 2
nucleus 2

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for SPEF2 Gene

Pathways & Interactions for SPEF2 Gene

SuperPathways for SPEF2 Gene

No Data Available

Interacting Proteins for SPEF2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000348314%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: Q9C093-SPEF2_HUMAN ENSP00000348314 for SPEF2 Gene via IID STRING

Gene Ontology (GO) - Biological Process for SPEF2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for SPEF2 Gene

Transcripts for SPEF2 Gene

Unigene Clusters for SPEF2 Gene

Sperm flagellar 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPEF2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1:
SP2:
SP3:
SP4: -
SP5: - -
SP6: -
SP7: - -
SP8: - -
SP9: -
SP10:

ExUns: 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35
SP1:
SP2: - - - - - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for SPEF2 Gene

GeneLoc Exon Structure for
SPEF2
ECgene alternative splicing isoforms for
SPEF2

Expression for SPEF2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SPEF2 Gene

Protein differential expression in normal tissues from HIPED for SPEF2 Gene

This gene is overexpressed in Fetal Brain (41.1), Platelet (17.2), and Fetal ovary (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SPEF2 Gene



Protein tissue co-expression partners for SPEF2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SPEF2 Gene:

SPEF2

SOURCE GeneReport for Unigene cluster for SPEF2 Gene:

Hs.298863
genes like me logo Genes that share expression patterns with SPEF2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for SPEF2 Gene

Orthologs for SPEF2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for SPEF2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SPEF2 34 35
  • 98.86 (n)
dog
(Canis familiaris)
Mammalia SPEF2 34 35
  • 86.99 (n)
cow
(Bos Taurus)
Mammalia SPEF2 34 35
  • 83.68 (n)
rat
(Rattus norvegicus)
Mammalia Spef2 34
  • 78.58 (n)
mouse
(Mus musculus)
Mammalia Spef2 34 16 35
  • 78.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 76 (a)
OneToMany
-- 35
  • 55 (a)
OneToMany
-- 35
  • 55 (a)
OneToMany
-- 35
  • 49 (a)
OneToMany
-- 35
  • 46 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SPEF2 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPEF2 34 35
  • 63.86 (n)
lizard
(Anolis carolinensis)
Reptilia SPEF2 35
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spef2 34
  • 59.41 (n)
Str.19623 34
zebrafish
(Danio rerio)
Actinopterygii spef2 34 35
  • 52.54 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
OneToOne
Species where no ortholog for SPEF2 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 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 SPEF2 Gene

ENSEMBL:
Gene Tree for SPEF2 (if available)
TreeFam:
Gene Tree for SPEF2 (if available)

Paralogs for SPEF2 Gene

No data available for Paralogs for SPEF2 Gene

Variants for SPEF2 Gene

Sequence variations from dbSNP and Humsavar for SPEF2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1001209 -- 35,801,853(-) tgcct(C/T)ctccc intron-variant
rs10036432 -- 35,672,472(+) AGGAT(G/T)CATTG intron-variant
rs10036879 -- 35,738,133(+) gagtc(A/G)attgc intron-variant
rs10037564 -- 35,738,977(+) TGTTT(C/T)AATTT intron-variant
rs10037597 -- 35,716,318(+) TGTTT(A/G)CTAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SPEF2 Gene

Variant ID Type Subtype PubMed ID
dgv3075n106 CNV deletion 24896259
dgv3257e59 CNV duplication 20981092
esv1009459 CNV insertion 20482838
esv1670180 CNV insertion 17803354
esv1699889 CNV insertion 17803354
esv2001300 CNV deletion 18987734
esv2264320 CNV deletion 18987734
esv2487237 CNV insertion 19546169
esv26311 CNV gain 19812545
esv2730067 CNV deletion 23290073
esv2730068 CNV deletion 23290073
esv2730069 CNV deletion 23290073
esv2730070 CNV deletion 23290073
esv2730071 CNV deletion 23290073
esv2730072 CNV deletion 23290073
esv3306157 CNV mobile element insertion 20981092
esv3310556 CNV novel sequence insertion 20981092
esv3357065 CNV insertion 20981092
esv3365143 CNV insertion 20981092
esv3411086 CNV insertion 20981092
esv3604707 CNV gain 21293372
esv3604709 CNV loss 21293372
esv3604710 CNV gain 21293372
esv3894175 CNV loss 25118596
nsv1109690 CNV deletion 24896259
nsv1117549 CNV deletion 24896259
nsv1117550 CNV deletion 24896259
nsv329452 CNV insertion 16902084
nsv4793 CNV insertion 18451855
nsv483069 CNV gain 15286789
nsv507244 OTHER sequence alteration 20534489
nsv509064 CNV insertion 20534489
nsv512849 CNV insertion 21212237
nsv515831 CNV gain 19592680
nsv525477 CNV loss 19592680
nsv958278 CNV deletion 24416366

Variation tolerance for SPEF2 Gene

Residual Variation Intolerance Score: 98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.95; 95.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPEF2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SPEF2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPEF2 Gene

Disorders for SPEF2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SPEF2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
primary ciliary dyskinesia
  • ciliary motility disorder
- elite association - COSMIC cancer census association via MalaCards
Search SPEF2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for SPEF2

Genetic Association Database (GAD)
SPEF2
Human Genome Epidemiology (HuGE) Navigator
SPEF2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPEF2
genes like me logo Genes that share disorders with SPEF2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SPEF2 Gene

Publications for SPEF2 Gene

  1. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 2 3 4 64
  2. Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data. (PMID: 21244703) Wang J.H. … Oksenberg J.R. (Genome Med 2011) 3 46 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G. … Wijmenga C. (Gut 2009) 3 46 64
  5. Infertile Finnish Yorkshire boars carry a full-length LINE-1 retrotransposon within the KPL2 gene. (PMID: 17610085) Sironen A. … Thomsen B. (Mol. Genet. Genomics 2007) 2 3 64

Products for SPEF2 Gene

Sources for SPEF2 Gene

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