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Aliases for ENKUR Gene

Aliases for ENKUR Gene

  • Enkurin, TRPC Channel Interacting Protein 2 3 5
  • C10orf63 3 4
  • Chromosome 10 Open Reading Frame 63 2
  • CFAP106 3
  • Enkurin 3

External Ids for ENKUR Gene

Previous HGNC Symbols for ENKUR Gene

  • C10orf63

Previous GeneCards Identifiers for ENKUR Gene

  • GC10M025311

Summaries for ENKUR Gene

Entrez Gene Summary for ENKUR Gene

  • This gene encodes a protein that interacts with calmodulin and several transient receptor potential canonical cation channel proteins. The encoded protein may function as an adaptor to localize signal transduction machinery to calcium channels. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]

GeneCards Summary for ENKUR Gene

ENKUR (Enkurin, TRPC Channel Interacting Protein) is a Protein Coding gene. Diseases associated with ENKUR include Visceral Heterotaxy. Gene Ontology (GO) annotations related to this gene include calmodulin binding and SH3 domain binding.

UniProtKB/Swiss-Prot for ENKUR Gene

  • Adapter that functions to localize a calcium-sensitive signal transduction machinery in sperm to a calcium-permeable ion channel.

Gene Wiki entry for ENKUR Gene

Additional gene information for ENKUR Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ENKUR Gene

Genomics for ENKUR Gene

GeneHancer (GH) Regulatory Elements for ENKUR Gene

Promoters and enhancers for ENKUR 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
GH10I025059 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 550.8 +0.7 719 4.6 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A YY1 POLR2B FOS ENKUR THNSL1
GH10I025015 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557 +45.5 45474 2.9 PKNOX1 CLOCK MLX ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 ZBTB7B THNSL1 ENKUR
GH10I024992 Enhancer 0.6 ENCODE 18.4 +68.8 68765 1.4 MAFG ZNF592 ZNF316 ZNF512 NFE2 KDM1A HNF4A EMSY MAFK MGA ENKUR THNSL1 ARHGAP21 PRTFDC1
GH10I024968 Enhancer 0.6 ENCODE dbSUPER 17.1 +92.5 92487 1.8 RFX1 POLR2A ENKUR THNSL1 PRTFDC1
GH10I024962 Enhancer 1 ENCODE dbSUPER 10.1 +98.9 98933 2.1 FOXA2 RAD21 RARA YY1 IKZF2 RXRA USF2 CEBPB ZEB2 REST THNSL1 ENKUR PRTFDC1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ENKUR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ENKUR gene promoter:

Genomic Locations for ENKUR Gene

Genomic Locations for ENKUR Gene
chr10:24,981,979-25,062,279
(GRCh38/hg38)
Size:
80,301 bases
Orientation:
Minus strand
chr10:25,270,908-25,305,089
(GRCh37/hg19)

Genomic View for ENKUR Gene

Genes around ENKUR on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ENKUR Gene

Proteins for ENKUR Gene

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

    Protein Symbol:
    Q8TC29-ENKUR_HUMAN
    Recommended name:
    Enkurin
    Protein Accession:
    Q8TC29
    Secondary Accessions:
    • A8K8Y0
    • D3DRV2

    Protein attributes for ENKUR Gene

    Size:
    256 amino acids
    Molecular mass:
    29454 Da
    Quaternary structure:
    • Binds calmodulin via its IQ domain. Interacts with TRPC1, TRPC2, TRPC5, but not TRPC3 (By similarity).

neXtProt entry for ENKUR Gene

Post-translational modifications for ENKUR Gene

No Post-translational modifications

No data available for DME Specific Peptides for ENKUR Gene

Domains & Families for ENKUR Gene

Gene Families for ENKUR Gene

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

Protein Domains for ENKUR Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ENKUR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TC29

UniProtKB/Swiss-Prot:

ENKUR_HUMAN :
  • Residues 160-255 contains the TRPC2 binding site.
Domain:
  • Residues 160-255 contains the TRPC2 binding site.
  • The IQ motif is involved in calmodulin binding.
genes like me logo Genes that share domains with ENKUR: view

Function for ENKUR Gene

Molecular function for ENKUR Gene

UniProtKB/Swiss-Prot Function:
Adapter that functions to localize a calcium-sensitive signal transduction machinery in sperm to a calcium-permeable ion channel.

Gene Ontology (GO) - Molecular Function for ENKUR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005516 calmodulin binding IEA --
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with ENKUR: view
genes like me logo Genes that share phenotypes with ENKUR: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ENKUR Gene

Localization for ENKUR Gene

Subcellular locations from UniProtKB/Swiss-Prot for ENKUR Gene

Cell projection, cilium, flagellum. Note=Sperm acrosomal crescent and flagellar principal piece.

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 ENKUR gene
Compartment Confidence
nucleus 3

Gene Ontology (GO) - Cellular Components for ENKUR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005929 cilium IEA --
GO:0031514 motile cilium IEA --
GO:0042995 cell projection IEA --
GO:0097228 sperm principal piece IEA --
genes like me logo Genes that share ontologies with ENKUR: view

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

Pathways & Interactions for ENKUR Gene

SuperPathways for ENKUR Gene

No Data Available

Gene Ontology (GO) - Biological Process for ENKUR Gene

None

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

Drugs & Compounds for ENKUR Gene

(1) Drugs for ENKUR Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with ENKUR: view

Transcripts for ENKUR Gene

Unigene Clusters for ENKUR Gene

Enkurin, TRPC channel interacting protein:
Representative Sequences:

Clone Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7
SP1: - -
SP2:
SP3: - - -

Relevant External Links for ENKUR Gene

GeneLoc Exon Structure for
ENKUR
ECgene alternative splicing isoforms for
ENKUR

Expression for ENKUR Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Caudate (basal ganglia) (x5.0), Brain - Hypothalamus (x5.0), Brain - Nucleus accumbens (basal ganglia) (x4.5), and Brain - Putamen (basal ganglia) (x4.0).

Protein differential expression in normal tissues from HIPED for ENKUR Gene

This gene is overexpressed in Esophagus (32.0), Stomach (18.5), and Neutrophil (18.3).

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



Protein tissue co-expression partners for ENKUR Gene

NURSA nuclear receptor signaling pathways regulating expression of ENKUR Gene:

ENKUR

SOURCE GeneReport for Unigene cluster for ENKUR Gene:

Hs.534486

Evidence on tissue expression from TISSUES for ENKUR Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with ENKUR: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ENKUR Gene

Orthologs for ENKUR Gene

This gene was present in the common ancestor of animals.

Orthologs for ENKUR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ENKUR 33 34
  • 99.48 (n)
cow
(Bos Taurus)
Mammalia ENKUR 33 34
  • 90.81 (n)
dog
(Canis familiaris)
Mammalia ENKUR 33 34
  • 90.03 (n)
mouse
(Mus musculus)
Mammalia Enkur 33 16 34
  • 83.86 (n)
rat
(Rattus norvegicus)
Mammalia Enkur 33
  • 82.68 (n)
oppossum
(Monodelphis domestica)
Mammalia ENKUR 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENKUR 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENKUR 33 34
  • 69.73 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 63 (a)
OneToMany
-- 34
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia enkur 33
  • 64.38 (n)
Str.16241 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.32096 33
zebrafish
(Danio rerio)
Actinopterygii enkur 33 34
  • 61.68 (n)
Dr.14980 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2710 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007240 33
  • 45.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG16984 33 34
  • 42.53 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4557 34
  • 57 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6938 33
Species where no ortholog for ENKUR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • 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 ENKUR Gene

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

Paralogs for ENKUR Gene

No data available for Paralogs for ENKUR Gene

Variants for ENKUR Gene

Sequence variations from dbSNP and Humsavar for ENKUR Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000037406 -- 25,015,862(-) A/G 5_prime_UTR_variant, coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs1000039019 -- 25,015,986(-) T/C 5_prime_UTR_variant, intron_variant, non_coding_transcript_variant
rs1000046400 -- 25,007,141(-) A/T intron_variant
rs1000144010 -- 25,050,436(-) T/A genic_upstream_transcript_variant, intron_variant
rs1000177235 -- 25,055,887(-) A/G genic_upstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
esv1965232 CNV deletion 18987734
esv2734151 CNV deletion 23290073
esv2734162 CNV deletion 23290073
esv3443158 OTHER inversion 20981092
nsv1036683 CNV gain 25217958
nsv550224 CNV gain 21841781

Variation tolerance for ENKUR Gene

Residual Variation Intolerance Score: 81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.05; 37.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ENKUR Gene

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

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

Disorders for ENKUR Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
visceral heterotaxy
  • heterotaxia
- elite association - COSMIC cancer census association via MalaCards
Search ENKUR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ENKUR

genes like me logo Genes that share disorders with ENKUR: view

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

Publications for ENKUR Gene

  1. Canonical transient receptor potential 5. (PMID: 17217053) Beech DJ (Handbook of experimental pharmacology 2007) 2 3 22 58
  2. Enkurin is a novel calmodulin and TRPC channel binding protein in sperm. (PMID: 15385169) Sutton KA … Florman HM (Developmental biology 2004) 2 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for ENKUR Gene

Sources for ENKUR Gene

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