Aliases for SPEF2 Gene

Aliases for SPEF2 Gene

  • Sperm Flagellar 2 2 3 5
  • KPL2 2 3 4
  • Cancer/Testis Antigen 122 2 3
  • Sperm Flagellar Protein 2 3 4
  • CT122 2 3
  • Testis Tissue Sperm-Binding Protein Li 47a 3
  • Protein KPL2 4
  • FLJ23577 2
  • KIAA1770 4
  • SPGF43 3
  • SPEF2 5

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 Spermatogenic Failure 43 and Primary Ciliary Dyskinesia. Gene Ontology (GO) annotations related to this gene include protein dimerization activity.

UniProtKB/Swiss-Prot Summary for SPEF2 Gene

  • Required for correct axoneme development in spermatozoa. Important for normal development of the manchette and sperm head morphology. Essential for male fertility. Plays a role in localization of the intraflagellar transport protein IFT20 to the manchette, suggesting function as an adapter for dynein-mediated protein transport during spermatogenesis. Also plays a role in bone growth where it seems to be required for normal osteoblast differentiation.

Gene Wiki entry for SPEF2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SPEF2 Gene

Genomics for SPEF2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SPEF2 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
GH05J035616 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 614.7 +0.7 683 2.3 ZNF221 HNRNPL GATAD2A CTCF PRDM10 ZNF629 ZNF512 RFX1 KDM1A ZNF692 SPEF2 BRIX1 NADK2-AS1 SKP2 RAI14 RF00066-149 RNU7-130P IL7R
GH05J035670 Enhancer 0.7 FANTOM5 Ensembl ENCODE 19.4 +54.5 54534 6.2 MTA2 SPI1 IL7R SPEF2 RANBP3L RF00066-149 RNU7-130P lnc-CAPSL-3
GH05J036441 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.8 +826.3 826271 3.9 HNRNPL PRDM10 LEF1 IKZF1 JUND MTA2 ZIC2 MTA1 ZNF24 ZNF501 NIPBL NUP155 SLC1A3 OFD1P17 WDR70 SPEF2 RF00017-4574 piR-32214-540 RANBP3L
GH05J035482 Enhancer 1 Ensembl ENCODE 10.7 -133.5 -133466 5 GATAD2A TFE3 FOXA1 RBFOX2 IRF2 SP1 CEBPA KMT2B SOX13 TCF7 SPEF2 piR-56037-003 piR-46002-458 PRLR
GH05J035809 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 7.2 +206.6 206634 30 CREB1 CTCF RFX1 KDM1A JUND IKZF2 SCRT2 ZBTB20 DPF2 CEBPB IL7R CAPSL ENSG00000249748 RNU7-130P SPEF2 NADK2 LMBRD2 ENSG00000248969 LOC105374724 RF00017-4573
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SPEF2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SPEF2

Top Transcription factor binding sites by QIAGEN in the SPEF2 gene promoter:
  • AhR
  • c-Myb
  • C/EBPbeta
  • FOXC1
  • FOXL1
  • Gfi-1
  • MIF-1
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)
  • RSRFC4

Genomic Locations for SPEF2 Gene

Genomic Locations for SPEF2 Gene
chr5:35,617,367-35,814,611
(GRCh38/hg38)
Size:
197,245 bases
Orientation:
Plus strand
chr5:35,617,946-35,814,713
(GRCh37/hg19)
Size:
196,768 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:
    • Interacts (via C-terminus) with IFT20 (PubMed:19889948). Interacts with DYNC1I2 (By similarity).
    SequenceCaution:
    • Sequence=BAB15700.1; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 4]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for SPEF2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SPEF2 Gene

Post-translational modifications for SPEF2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SPEF2 Gene

Domains & Families for SPEF2 Gene

Gene Families for SPEF2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SPEF2 Gene

InterPro:
Blocks:
  • HAT dimerisation
ProtoNet:

Suggested Antigen Peptide Sequences for SPEF2 Gene

GenScript: Design optimal peptide antigens:
  • Protein KPL2 (SPEF2_HUMAN)
genes like me logo Genes that share domains with SPEF2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SPEF2 Gene

Function for SPEF2 Gene

Molecular function for SPEF2 Gene

UniProtKB/Swiss-Prot Function:
Required for correct axoneme development in spermatozoa. Important for normal development of the manchette and sperm head morphology. Essential for male fertility. Plays a role in localization of the intraflagellar transport protein IFT20 to the manchette, suggesting function as an adapter for dynein-mediated protein transport during spermatogenesis. Also plays a role in bone growth where it seems to be required for normal osteoblast differentiation.

Phenotypes From GWAS Catalog for SPEF2 Gene

Gene Ontology (GO) - Molecular Function for SPEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with SPEF2: view
genes like me logo Genes that share phenotypes with SPEF2: view

Human Phenotype Ontology for SPEF2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPEF2

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SPEF2 Gene

Localization for SPEF2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPEF2 Gene

Cytoplasm. Golgi apparatus. Note=Shows dynamic localization in developing spermatozoa. Localizes to the manchette in step 10-12 elongating spermatids. Detected in the basal body and neck area of step 13-14 spermatids. Localizes to the midpiece of the sperm tail in step 15-16 spermatids. During the epididymal transport of spermatozoa, expression in the sperm tail reduces and becomes concentrated at the distal part of the midpiece. Detected in the Golgi apparatus of late spermatocytes and round spermatids. Detected in the cytoplasm of Sertoli cells. {ECO:0000250 UniProtKB:Q8C9J3}.

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 SPEF2 gene
Compartment Confidence
cytoskeleton 4
golgi apparatus 4
extracellular 3
nucleus 2
cytosol 2
plasma membrane 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SPEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002177 manchette ISS --
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm ISS --
GO:0005794 Golgi apparatus ISS --
GO:0097225 sperm midpiece ISS --
genes like me logo Genes that share ontologies with SPEF2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SPEF2 Gene

Pathways & Interactions for SPEF2 Gene

PathCards logo

SuperPathways for SPEF2 Gene

No Data Available

Interacting Proteins for SPEF2 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000348314 Q9C093-SPEF2_HUMAN for SPEF2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for SPEF2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003351 epithelial cilium movement ISS --
GO:0007283 spermatogenesis ISS --
GO:0007288 sperm axoneme assembly ISS --
GO:0030154 cell differentiation IEA --
GO:0048705 skeletal system morphogenesis ISS --
genes like me logo Genes that share ontologies with SPEF2: view

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

Drugs & Compounds for SPEF2 Gene

No Compound Related Data Available

Transcripts for SPEF2 Gene

mRNA/cDNA for SPEF2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SPEF2

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SPEF2

SOURCE GeneReport for Unigene cluster for SPEF2 Gene:

Hs.298863

Evidence on tissue expression from TISSUES for SPEF2 Gene

  • Nervous system(4.4)
  • Lung(4.4)
genes like me logo Genes that share expression patterns with SPEF2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 98.86 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SPEF2 30 31
  • 86.99 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SPEF2 30 31
  • 83.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Spef2 30
  • 78.58 (n)
Mouse
(Mus musculus)
Mammalia Spef2 30 17 31
  • 78.38 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
-- 31
  • 49 (a)
OneToMany
-- 31
  • 46 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia SPEF2 31
  • 59 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SPEF2 30 31
  • 63.86 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SPEF2 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia spef2 30
  • 59.41 (n)
Str.19623 30
Zebrafish
(Danio rerio)
Actinopterygii spef2 30 31
  • 52.54 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 37 (a)
OneToOne
Species where no ortholog for SPEF2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SPEF2: view image

Paralogs for SPEF2 Gene

No data available for Paralogs for SPEF2 Gene

Variants for SPEF2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SPEF2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
708818 Benign: not provided 35,727,832(+) A/T INTRON_VARIANT
722366 Benign: not provided 35,641,566(+) A/G SYNONYMOUS_VARIANT
722367 Benign: not provided 35,691,081(+) T/C SYNONYMOUS_VARIANT
722368 Benign: not provided 35,691,131(+) C/T MISSENSE_VARIANT
722369 Benign: not provided 35,697,779(+) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SPEF2 Gene

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)

Additional Variant Information for SPEF2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for SPEF2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SPEF2 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spermatogenic failure 43
  • spgf43
primary ciliary dyskinesia
  • pcd
non-syndromic male infertility due to sperm motility disorder
  • non-syndromic male infertility due asthenozoospermia
- elite association - COSMIC cancer census association via MalaCards
Search SPEF2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SPEF2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
  2. Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data. (PMID: 21244703) Wang JH … Oksenberg JR (Genome medicine 2011) 3 41
  3. 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 41
  4. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PMID: 19240061) Trynka G … Wijmenga C (Gut 2009) 3 41
  5. Infertile Finnish Yorkshire boars carry a full-length LINE-1 retrotransposon within the KPL2 gene. (PMID: 17610085) Sironen A … Thomsen B (Molecular genetics and genomics : MGG 2007) 2 3

Products for SPEF2 Gene

Sources for SPEF2 Gene