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SPEF2 (sperm flagellar 2)

Identity

Alias_symbol (synonym)KPL2
FLJ23577
CT122
Other alias
HGNC (Hugo) SPEF2
LocusID (NCBI) 79925
Atlas_Id 74169
Location 5p13.2  [Link to chromosome band 5p13]
Location_base_pair Starts at 35617989 and ends at 35814713 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NIPBL (5p13.2) / SPEF2 (5p13.2)RPL23A (17q11.2) / SPEF2 (5p13.2)SPEF2 (5p13.2) / NADK2 (5p13.2)
TNFAIP8L1 (19p13.3) / SPEF2 (5p13.2)NIPBL SPEF2TNFAIP8L1 SPEF2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)SPEF2   26293
Cards
Entrez_Gene (NCBI)SPEF2  79925  sperm flagellar 2
AliasesCT122; KPL2
GeneCards (Weizmann)SPEF2
Ensembl hg19 (Hinxton)ENSG00000152582 [Gene_View]  chr5:35617989-35814713 [Contig_View]  SPEF2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000152582 [Gene_View]  chr5:35617989-35814713 [Contig_View]  SPEF2 [Vega]
ICGC DataPortalENSG00000152582
TCGA cBioPortalSPEF2
AceView (NCBI)SPEF2
Genatlas (Paris)SPEF2
WikiGenes79925
SOURCE (Princeton)SPEF2
Genetics Home Reference (NIH)SPEF2
Genomic and cartography
GoldenPath hg19 (UCSC)SPEF2  -     chr5:35617989-35814713 +  5p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SPEF2  -     5p13.2   [Description]    (hg38-Dec_2013)
EnsemblSPEF2 - 5p13.2 [CytoView hg19]  SPEF2 - 5p13.2 [CytoView hg38]
Mapping of homologs : NCBISPEF2 [Mapview hg19]  SPEF2 [Mapview hg38]
OMIM610172   
Gene and transcription
Genbank (Entrez)AA328954 AB051557 AK026817 AK027230 AK058124
RefSeq transcript (Entrez)NM_024867 NM_144722
RefSeq genomic (Entrez)NC_000005 NC_018916 NT_006576 NW_004929321
Consensus coding sequences : CCDS (NCBI)SPEF2
Cluster EST : UnigeneHs.298863 [ NCBI ]
CGAP (NCI)Hs.298863
Alternative Splicing GalleryENSG00000152582
Gene ExpressionSPEF2 [ NCBI-GEO ]   SPEF2 [ EBI - ARRAY_EXPRESS ]   SPEF2 [ SEEK ]   SPEF2 [ MEM ]
Gene Expression Viewer (FireBrowse)SPEF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79925
GTEX Portal (Tissue expression)SPEF2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9C093   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9C093  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9C093
Splice isoforms : SwissVarQ9C093
PhosPhoSitePlusQ9C093
Domaine pattern : Prosite (Expaxy)CH (PS50021)   
Domains : Interpro (EBI)CH-domain    DUF1042    HATC_dom_C    P-loop_NTPase   
Domain families : Pfam (Sanger)Dimer_Tnp_hAT (PF05699)    DUF1042 (PF06294)   
Domain families : Pfam (NCBI)pfam05699    pfam06294   
Conserved Domain (NCBI)SPEF2
DMDM Disease mutations79925
Blocks (Seattle)SPEF2
SuperfamilyQ9C093
Human Protein AtlasENSG00000152582
Peptide AtlasQ9C093
HPRD11181
IPIIPI00410082   IPI00472805   IPI00065078   IPI00302344   IPI00964342   IPI00964647   IPI00964386   IPI00964053   IPI00967249   IPI00967556   IPI00965988   IPI00965115   
Protein Interaction databases
DIP (DOE-UCLA)Q9C093
IntAct (EBI)Q9C093
FunCoupENSG00000152582
BioGRIDSPEF2
STRING (EMBL)SPEF2
ZODIACSPEF2
Ontologies - Pathways
QuickGOQ9C093
Ontology : AmiGOmanchette  immune system development  Golgi apparatus  spermatogenesis  fertilization  multicellular organismal aging  axoneme assembly  protein dimerization activity  embryonic neurocranium morphogenesis  brain morphogenesis  respiratory system development  sperm midpiece  
Ontology : EGO-EBImanchette  immune system development  Golgi apparatus  spermatogenesis  fertilization  multicellular organismal aging  axoneme assembly  protein dimerization activity  embryonic neurocranium morphogenesis  brain morphogenesis  respiratory system development  sperm midpiece  
NDEx NetworkSPEF2
Atlas of Cancer Signalling NetworkSPEF2
Wikipedia pathwaysSPEF2
Orthology - Evolution
OrthoDB79925
GeneTree (enSembl)ENSG00000152582
Phylogenetic Trees/Animal Genes : TreeFamSPEF2
HOVERGENQ9C093
HOGENOMQ9C093
Homologs : HomoloGeneSPEF2
Homology/Alignments : Family Browser (UCSC)SPEF2
Gene fusions - Rearrangements
Fusion: TCGANIPBL SPEF2
Fusion: TCGATNFAIP8L1 SPEF2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSPEF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SPEF2
dbVarSPEF2
ClinVarSPEF2
1000_GenomesSPEF2 
Exome Variant ServerSPEF2
ExAC (Exome Aggregation Consortium)SPEF2 (select the gene name)
Genetic variants : HAPMAP79925
Genomic Variants (DGV)SPEF2 [DGVbeta]
DECIPHER (Syndromes)5:35617989-35814713  ENSG00000152582
CONAN: Copy Number AnalysisSPEF2 
Mutations
ICGC Data PortalSPEF2 
TCGA Data PortalSPEF2 
Broad Tumor PortalSPEF2
OASIS PortalSPEF2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSPEF2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSPEF2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SPEF2
DgiDB (Drug Gene Interaction Database)SPEF2
DoCM (Curated mutations)SPEF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SPEF2 (select a term)
intoGenSPEF2
Cancer3DSPEF2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610172   
Orphanet
MedgenSPEF2
Genetic Testing Registry SPEF2
NextProtQ9C093 [Medical]
TSGene79925
GENETestsSPEF2
Huge Navigator SPEF2 [HugePedia]
snp3D : Map Gene to Disease79925
BioCentury BCIQSPEF2
ClinGenSPEF2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79925
Chemical/Pharm GKB GenePA162404451
Clinical trialSPEF2
Miscellaneous
canSAR (ICR)SPEF2 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSPEF2
EVEXSPEF2
GoPubMedSPEF2
iHOPSPEF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:46:28 CET 2017

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