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Aliases for EFCAB12 Gene

Aliases for EFCAB12 Gene

  • EF-Hand Calcium Binding Domain 12 2 3 5
  • C3orf25 3 4
  • EF-Hand Calcium-Binding Domain-Containing Protein 12 3
  • EF-Hand Domain-Containing Protein C3orf25 3
  • Chromosome 3 Open Reading Frame 25 2

External Ids for EFCAB12 Gene

Previous HGNC Symbols for EFCAB12 Gene

  • C3orf25

Previous GeneCards Identifiers for EFCAB12 Gene

  • GC03M129122

Summaries for EFCAB12 Gene

GeneCards Summary for EFCAB12 Gene

EFCAB12 (EF-Hand Calcium Binding Domain 12) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFCAB12 Gene

Genomics for EFCAB12 Gene

Regulatory Elements for EFCAB12 Gene

Enhancers for EFCAB12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F129428 0.9 ENCODE 7.3 -0.4 -387 1.8 HDAC1 ATF1 ARID4B SIN3A BMI1 DMAP1 DNMT3B RAD21 ZBTB40 GATA2 IFT122 EFCAB12
GH03F129575 1.5 FANTOM5 Ensembl ENCODE 4.2 -148.9 -148879 4.3 ELF3 ARID4B RAD21 RARA GLIS2 ZNF366 EGR2 THAP11 TBX21 NR2F2 PLXND1 ENSG00000250796 IFT122 EFCAB12 HMCES H1FX RAB43 MBD4 GC03M129561 RN7SL752P
GH03F129245 1.1 Ensembl ENCODE 5.7 +182.9 182897 1.5 ELF3 ARID4B SIN3A ZNF2 RAD21 RFX5 YY1 SCRT2 ZNF143 DEK EFCAB12 H1FX-AS1 PIR44075 GC03M129230
GH03F129398 1.1 ENCODE 4.8 +29.4 29378 2.2 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZNF143 SP3 RPL32P3 IFT122 ISY1 H1FX MBD4 H1FX-AS1 RHO ENSG00000244932 ENSG00000249846 EFCAB12
GH03F129281 0.9 ENCODE 4.7 +145.9 145888 1.6 PKNOX1 TBL1XR1 SIN3A ARID4B BMI1 ZNF335 GLIS2 ETV6 CREM EGR2 HMCES EFCAB12 GC03M129283
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EFCAB12 on UCSC Golden Path with GeneCards custom track

Promoters for EFCAB12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001483456 51 801 HDAC1 ARID4B SIN3A BMI1 DMAP1 DNMT3B RAD21 ZBTB40 GATA2 SCRT2

Genomic Location for EFCAB12 Gene

Chromosome:
3
Start:
129,401,321 bp from pter
End:
129,428,651 bp from pter
Size:
27,331 bases
Orientation:
Minus strand

Genomic View for EFCAB12 Gene

Genes around EFCAB12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFCAB12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFCAB12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFCAB12 Gene

Proteins for EFCAB12 Gene

  • Protein details for EFCAB12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6NXP0-EFC12_HUMAN
    Recommended name:
    EF-hand calcium-binding domain-containing protein 12
    Protein Accession:
    Q6NXP0
    Secondary Accessions:
    • Q69YX4

    Protein attributes for EFCAB12 Gene

    Size:
    572 amino acids
    Molecular mass:
    66551 Da
    Quaternary structure:
    No Data Available

neXtProt entry for EFCAB12 Gene

Post-translational modifications for EFCAB12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EFCAB12 Gene

Domains & Families for EFCAB12 Gene

Gene Families for EFCAB12 Gene

Protein Domains for EFCAB12 Gene

Suggested Antigen Peptide Sequences for EFCAB12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6NXP0

UniProtKB/Swiss-Prot:

EFC12_HUMAN :
  • Contains 1 EF-hand domain.
Domain:
  • Contains 1 EF-hand domain.
genes like me logo Genes that share domains with EFCAB12: view

Function for EFCAB12 Gene

Gene Ontology (GO) - Molecular Function for EFCAB12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with EFCAB12: view
genes like me logo Genes that share phenotypes with EFCAB12: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for EFCAB12 Gene

Localization for EFCAB12 Gene

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 EFCAB12 gene
Compartment Confidence
nucleus 2
cytosol 2
plasma membrane 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for EFCAB12 Gene

Pathways & Interactions for EFCAB12 Gene

SuperPathways for EFCAB12 Gene

No Data Available

Interacting Proteins for EFCAB12 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000420854%0d%0a9606.ENSP00000362107%0d%0a
Selected Interacting proteins: Q6NXP0-EFC12_HUMAN ENSP00000420854 for EFCAB12 Gene via IID UniProtKB STRING

Gene Ontology (GO) - Biological Process for EFCAB12 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for EFCAB12 Gene

Transcripts for EFCAB12 Gene

Unigene Clusters for EFCAB12 Gene

EF-hand calcium binding domain 12:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EFCAB12 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2:
SP3: - -

Relevant External Links for EFCAB12 Gene

GeneLoc Exon Structure for
EFCAB12
ECgene alternative splicing isoforms for
EFCAB12

Expression for EFCAB12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EFCAB12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EFCAB12 Gene

This gene is overexpressed in Testis (x5.2), Prostate (x4.7), and Pituitary (x4.5).

Protein differential expression in normal tissues from HIPED for EFCAB12 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for EFCAB12 Gene



Protein tissue co-expression partners for EFCAB12 Gene

NURSA nuclear receptor signaling pathways regulating expression of EFCAB12 Gene:

EFCAB12

SOURCE GeneReport for Unigene cluster for EFCAB12 Gene:

Hs.652347
genes like me logo Genes that share expression patterns with EFCAB12: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for EFCAB12 Gene

Orthologs for EFCAB12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for EFCAB12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EFCAB12 34 35
  • 99.3 (n)
dog
(Canis familiaris)
Mammalia EFCAB12 34
  • 80.54 (n)
RPL32 35
  • 67 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EFCAB12 34 35
  • 76.76 (n)
mouse
(Mus musculus)
Mammalia Efcab12 16 35 34
  • 72.86 (n)
rat
(Rattus norvegicus)
Mammalia Efcab12 34
  • 70.55 (n)
oppossum
(Monodelphis domestica)
Mammalia EFCAB12 35
  • 39 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 39 (a)
OneToMany
-- 35
  • 21 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC770278 34
  • 45.29 (n)
EFCAB12 35
  • 28 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFCAB12 35
  • 34 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia efcab12 34
  • 43.76 (n)
Species where no ortholog for EFCAB12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • zebrafish (Danio rerio)

Evolution for EFCAB12 Gene

ENSEMBL:
Gene Tree for EFCAB12 (if available)
TreeFam:
Gene Tree for EFCAB12 (if available)

Paralogs for EFCAB12 Gene

No data available for Paralogs for EFCAB12 Gene

Variants for EFCAB12 Gene

Sequence variations from dbSNP and Humsavar for EFCAB12 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs10662959 -- 129,409,688(+) ATAAA(-/TAAA)GTTTT intron-variant
rs10934883 -- 129,410,018(+) TATTT(A/T)TTTTT intron-variant
rs111817445 -- 129,411,877(+) AGTGA(A/G)CCGAG intron-variant
rs112109372 -- 129,405,011(+) TTCTT(G/T)TTATG intron-variant
rs112206798 -- 129,409,687(+) TTTTT(-/ATAA)ATAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EFCAB12 Gene

Variant ID Type Subtype PubMed ID
esv2725901 CNV deletion 23290073
esv3307251 CNV mobile element insertion 20981092
esv3402529 CNV insertion 20981092
esv3597741 CNV loss 21293372
esv3597742 CNV loss 21293372
nsv591652 CNV gain 21841781
nsv591668 CNV gain 21841781

Variation tolerance for EFCAB12 Gene

Residual Variation Intolerance Score: 97.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.03; 84.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFCAB12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFCAB12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFCAB12 Gene

Disorders for EFCAB12 Gene

Relevant External Links for EFCAB12

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFCAB12

No disorders were found for EFCAB12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EFCAB12 Gene

Publications for EFCAB12 Gene

  1. 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 64
  2. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp J.J. … Guthrie C. (Nat. Struct. Mol. Biol. 2015) 3 64
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 64
  5. A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene. (PMID: 19490893) Luo J. … Elledge S.J. (Cell 2009) 3 64

Products for EFCAB12 Gene

Sources for EFCAB12 Gene

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