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Aliases for EFHC2 Gene

Aliases for EFHC2 Gene

  • EF-Hand Domain (C-Terminal) Containing 2 2 3
  • Mental Retardation, X-Linked 74 2 3
  • EF-Hand Domain-Containing Family Member C2 3
  • DJ1158H2.1 3
  • MRX74 3

External Ids for EFHC2 Gene

Previous HGNC Symbols for EFHC2 Gene

  • MRX74

Previous GeneCards Identifiers for EFHC2 Gene

  • GC0XM043764
  • GC0XM043892
  • GC0XM044007
  • GC0XM041736

Summaries for EFHC2 Gene

Entrez Gene Summary for EFHC2 Gene

  • This gene encodes a protein which contains three DM10 domains and three calcium-binding EF-hand motifs. A related protein is encoded by a gene on chromosome 6. It has been suggested that both proteins are involved in the development of epilepsy (PMID: 15258581, 16112844) and that this gene may be associated with fear recognition in individuals with Turner syndrome. [provided by RefSeq, Aug 2011]

GeneCards Summary for EFHC2 Gene

EFHC2 (EF-Hand Domain (C-Terminal) Containing 2) is a Protein Coding gene. Diseases associated with EFHC2 include turner syndrome. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is EFHC1.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFHC2 Gene

Genomics for EFHC2 Gene

Regulatory Elements for EFHC2 Gene

Genomic Location for EFHC2 Gene

Start:
44,146,303 bp from pter
End:
44,343,677 bp from pter
Size:
197,375 bases
Orientation:
Minus strand

Genomic View for EFHC2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EFHC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFHC2 Gene

Proteins for EFHC2 Gene

  • Protein details for EFHC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JST6-EFHC2_HUMAN
    Recommended name:
    EF-hand domain-containing family member C2
    Protein Accession:
    Q5JST6
    Secondary Accessions:
    • Q5JST8
    • Q68DK4
    • Q8NEI0
    • Q9H653

    Protein attributes for EFHC2 Gene

    Size:
    749 amino acids
    Molecular mass:
    87397 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=CAI40213.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI42234.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EFHC2 Gene

    Alternative splice isoforms for EFHC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFHC2 Gene

Proteomics data for EFHC2 Gene at MOPED

Post-translational modifications for EFHC2 Gene

  • Ubiquitination at Lys547
  • Modification sites at PhosphoSitePlus

Other Protein References for EFHC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EFHC2 Gene

Domains for EFHC2 Gene

Gene Families for EFHC2 Gene

HGNC:
  • EFHAND :EF-hand domain containing

Protein Domains for EFHC2 Gene

Suggested Antigen Peptide Sequences for EFHC2 Gene

Graphical View of Domain Structure for InterPro Entry

Q5JST6

UniProtKB/Swiss-Prot:

EFHC2_HUMAN :
  • Q5JST6
Domain:
  • Contains 3 DM10 domains.
  • Contains 1 EF-hand domain.
genes like me logo Genes that share domains with EFHC2: view

Function for EFHC2 Gene

Gene Ontology (GO) - Molecular Function for EFHC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with EFHC2: view

Phenotypes for EFHC2 Gene

genes like me logo Genes that share phenotypes with EFHC2: view

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for EFHC2 Gene

Localization for EFHC2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EFHC2 Gene COMPARTMENTS Subcellular localization image for EFHC2 gene
Compartment Confidence
cytosol 2
mitochondrion 2
nucleus 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EFHC2 Gene

Pathways for EFHC2 Gene

SuperPathways for EFHC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EFHC2 Gene

None

No data available for Pathways by source for EFHC2 Gene

Transcripts for EFHC2 Gene

mRNA/cDNA for EFHC2 Gene

(12) Selected AceView cDNA sequences:
(7) Additional mRNA sequences :
(3) REFSEQ mRNAs :
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EFHC2 Gene

EF-hand domain (C-terminal) containing 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EFHC2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFHC2 Gene

No ASD Table

Relevant External Links for EFHC2 Gene

GeneLoc Exon Structure for
EFHC2
ECgene alternative splicing isoforms for
EFHC2

Expression for EFHC2 Gene

mRNA expression in normal human tissues for EFHC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for EFHC2 Gene

SOURCE GeneReport for Unigene cluster for EFHC2 Gene Hs.521953

genes like me logo Genes that share expressions with EFHC2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EFHC2 Gene

Orthologs for EFHC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EFHC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFHC2 35
  • 99.73 (n)
  • 99.6 (a)
EFHC2 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EFHC2 35
  • 83.63 (n)
  • 74.9 (a)
dog
(Canis familiaris)
Mammalia EFHC2 35
  • 84.29 (n)
  • 76.78 (a)
EFHC2 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Efhc2 35
  • 80.41 (n)
  • 74.3 (a)
Efhc2 16
Efhc2 36
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EFHC2 36
  • 58 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 68 (a)
OneToMany
-- 36
  • 57 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Efhc2 35
  • 81.3 (n)
  • 75.5 (a)
chicken
(Gallus gallus)
Aves EFHC2 35
  • 65.23 (n)
  • 56.64 (a)
EFHC2 36
  • 57 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFHC2 36
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efhc2 35
  • 62.48 (n)
  • 53.51 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.13820 35
efhc2 35
  • 59.72 (n)
  • 53.99 (a)
efhc2 36
  • 53 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003339 35
  • 44.6 (n)
  • 38.61 (a)
fruit fly
(Drosophila melanogaster)
Insecta Efhc1.1 36
  • 30 (a)
OneToMany
Efhc1.2 35
  • 45.68 (n)
  • 36.35 (a)
Efhc1.2 36
  • 32 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1550 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3980 36
  • 51 (a)
OneToOne
Species with no ortholog for EFHC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 EFHC2 Gene

ENSEMBL:
Gene Tree for EFHC2 (if available)
TreeFam:
Gene Tree for EFHC2 (if available)

Paralogs for EFHC2 Gene

Paralogs for EFHC2 Gene

Selected SIMAP similar genes for EFHC2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with EFHC2: view

Variants for EFHC2 Gene

Sequence variations from dbSNP and Humsavar for EFHC2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs287778 -- 44,159,134(-) AACTG(C/T)GATGG intron-variant
rs287779 -- 44,150,411(-) gtgcc(A/G)caaac intron-variant
rs287780 -- 44,146,976(+) AGAAT(A/G)ATTAT utr-variant-3-prime
rs842078 -- 44,158,764(+) TGAAT(A/T)GAAGA intron-variant
rs915240 -- 44,172,762(+) CCTTT(C/T)AATAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EFHC2 Gene

Variant ID Type Subtype PubMed ID
esv33270 CNV Gain 17666407

Relevant External Links for EFHC2 Gene

HapMap Linkage Disequilibrium report
EFHC2
Human Gene Mutation Database (HGMD)
EFHC2
Locus Specific Mutation Databases (LSDB)
EFHC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFHC2 Gene

Disorders for EFHC2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for EFHC2 Gene including...

Search for EFHC2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for EFHC2 Gene

Relevant External Links for EFHC2

Genetic Association Database (GAD)
EFHC2
Human Genome Epidemiology (HuGE) Navigator
EFHC2
genes like me logo Genes that share disorders with EFHC2: view

No data available for UniProtKB/Swiss-Prot for EFHC2 Gene

Publications for EFHC2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4
  4. A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy. (PMID: 16112844) Gu W. … Steinlein O.K. (Epilepsy Res. 2005) 3 4
  5. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. (PMID: 17221867) de Brouwer A.P. … Hamel B.C. (Hum. Mutat. 2007) 2 3

Products for EFHC2 Gene

Sources for EFHC2 Gene

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