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] See more...

Aliases for ENKUR Gene

Aliases for ENKUR Gene

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

External Ids for ENKUR Gene

Previous HGNC Symbols for ENKUR Gene

  • C10orf63

Previous GeneCards Identifiers for ENKUR Gene

  • GC10M025311
  • GC10M024931

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. An important paralog of this gene is ENKD1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for ENKUR Gene

Genomics for ENKUR Gene

GeneHancer (GH) Regulatory Elements for ENKUR Gene

Promoters and enhancers for ENKUR Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ENKUR on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ENKUR gene promoter:
  • AML1a
  • C/EBPalpha
  • CUTL1
  • En-1
  • Evi-1
  • GATA-1
  • GATA-2
  • GATA-3
  • Pbx1a

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)
Size:
34,182 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ENKUR Gene

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:
  • Enkurin (ENKUR_HUMAN)

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.

Phenotypes From GWAS Catalog for ENKUR Gene

Gene Ontology (GO) - Molecular Function for ENKUR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005516 calmodulin binding IBA 21873635
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

Animal Models for ENKUR Gene

MGI Knock Outs for ENKUR:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , 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 2

Gene Ontology (GO) - Cellular Components for ENKUR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IBA 21873635
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

PathCards logo

SuperPathways for ENKUR Gene

No Data Available

Interacting Proteins for ENKUR Gene

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 7773
genes like me logo Genes that share compounds with ENKUR: view

Transcripts for ENKUR Gene

mRNA/cDNA for ENKUR Gene

CRISPR Products

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 32
  • 99.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ENKUR 33 32
  • 90.81 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ENKUR 33 32
  • 90.03 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Enkur 17 33 32
  • 83.86 (n)
rat
(Rattus norvegicus)
Mammalia Enkur 32
  • 82.68 (n)
oppossum
(Monodelphis domestica)
Mammalia ENKUR 33
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ENKUR 33
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves ENKUR 33 32
  • 69.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 63 (a)
OneToMany
-- 33
  • 55 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia enkur 32
  • 64.38 (n)
Str.16241 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.32096 32
zebrafish
(Danio rerio)
Actinopterygii enkur 33 32
  • 61.68 (n)
OneToOne
Dr.14980 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2710 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007240 32
  • 45.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG16984 33 32
  • 42.53 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4557 33
  • 57 (a)
OneToOne
Cin.6938 32
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6938 32
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)
Aminode:
Evolutionary constrained regions (ECRs) for ENKUR: view image

Paralogs for ENKUR Gene

Paralogs for ENKUR Gene

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

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 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

SNP Genotyping and Copy Number Assay Products

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 23 56
  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 56
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  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 56

Products for ENKUR Gene

Sources for ENKUR Gene