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Aliases for C2CD4D Gene

Aliases for C2CD4D Gene

  • C2 Calcium Dependent Domain Containing 4D 2 3 5
  • Family With Sequence Similarity 148, Member D 2 3
  • FAM148D 3 4
  • C2 Calcium-Dependent Domain-Containing Protein 4D 3

External Ids for C2CD4D Gene

Previous GeneCards Identifiers for C2CD4D Gene

  • GC01M123187

Summaries for C2CD4D Gene

GeneCards Summary for C2CD4D Gene

C2CD4D (C2 Calcium Dependent Domain Containing 4D) is a Protein Coding gene. An important paralog of this gene is C2CD4C.

Additional gene information for C2CD4D Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C2CD4D Gene

Genomics for C2CD4D Gene

GeneHancer (GH) Regulatory Elements for C2CD4D Gene

Promoters and enhancers for C2CD4D 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
GH01I151846 Enhancer 1 Ensembl ENCODE 550.8 -1.1 -1096 0.7 HDAC1 PKNOX1 RAD21 BRCA1 TCF12 ZNF335 FOS ATF7 ELF1 ZNF592 C2CD4D THEM5 LOC100132111
GH01I151720 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 10.1 +124.3 124310 1.2 CTCF PKNOX1 MXI1 SUZ12 TAL1 MAX SIN3A BMI1 GLIS2 POLR2A RIIAD1 ENSG00000232937 MRPL9 OAZ3 ENSG00000250734 SNX27 CGN ENSG00000252840 LOC100132111 C2CD4D
GH01I151979 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.7 -135.5 -135503 1.8 FEZF1 ZNF121 ZNF213 KLF7 YY2 TSHZ1 ZNF518A ZNF610 GLIS1 STAT3 THEM4 HRNR THEM5 C2CD4D ENSG00000201134 LOC100132111 FLG-AS1 LOC105371441 KRT8P28
GH01I151818 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 11.4 +25.2 25200 2.7 RFX1 RXRA NFIB MAX CEBPB YY1 JUND NFIC ATF3 ELK1 GC01P151821 TDRKH TDRKH-AS1 ENSG00000201134 C2CD4D THEM5 ENSG00000232937 OAZ3 MRPL9 RPS10P6
GH01I151974 Enhancer 1.1 ENCODE dbSUPER 10 -131.2 -131173 3.7 FOXA2 ARNT FEZF1 YY1 TCF12 FOS ATF7 ZNF263 NCOA1 MXD4 THEM4 THEM5 LOC100132111 ENSG00000201134 C2CD4D S100A11 ENSG00000252840 CGN LOC105371441 KRT8P28
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C2CD4D on UCSC Golden Path with GeneCards custom track

Genomic Locations for C2CD4D Gene

Genomic Locations for C2CD4D Gene
chr1:151,837,818-151,845,329
(GRCh38/hg38)
Size:
7,512 bases
Orientation:
Minus strand
chr1:151,810,295-151,813,033
(GRCh37/hg19)

Genomic View for C2CD4D Gene

Genes around C2CD4D on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2CD4D Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2CD4D Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2CD4D Gene

Proteins for C2CD4D Gene

  • Protein details for C2CD4D Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B7Z1M9-C2D4D_HUMAN
    Recommended name:
    C2 calcium-dependent domain-containing protein 4D
    Protein Accession:
    B7Z1M9
    Secondary Accessions:
    • B2RXG8

    Protein attributes for C2CD4D Gene

    Size:
    353 amino acids
    Molecular mass:
    37583 Da
    Quaternary structure:
    No Data Available

neXtProt entry for C2CD4D Gene

Post-translational modifications for C2CD4D Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C2CD4D Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C2CD4D Gene

Domains & Families for C2CD4D Gene

Gene Families for C2CD4D Gene

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

Protein Domains for C2CD4D Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C2CD4D Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C2CD4D: view

No data available for UniProtKB/Swiss-Prot for C2CD4D Gene

Function for C2CD4D Gene

Phenotypes From GWAS Catalog for C2CD4D Gene

Gene Ontology (GO) - Molecular Function for C2CD4D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA --
GO:0005544 calcium-dependent phospholipid binding IBA --
GO:0019905 NOT syntaxin binding IBA --
GO:0030276 NOT clathrin binding IBA --
genes like me logo Genes that share ontologies with C2CD4D: view

Phenotypes for C2CD4D Gene

GenomeRNAi human phenotypes for C2CD4D:
genes like me logo Genes that share phenotypes with C2CD4D: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for C2CD4D Gene

Localization for C2CD4D 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 C2CD4D gene
Compartment Confidence
plasma membrane 3
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for C2CD4D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IBA --
genes like me logo Genes that share ontologies with C2CD4D: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for C2CD4D Gene

Pathways & Interactions for C2CD4D Gene

SuperPathways for C2CD4D Gene

No Data Available

Interacting Proteins for C2CD4D Gene

Gene Ontology (GO) - Biological Process for C2CD4D Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006906 NOT vesicle fusion IBA --
GO:0017158 NOT regulation of calcium ion-dependent exocytosis IBA --
GO:0048791 NOT calcium ion-regulated exocytosis of neurotransmitter IBA --
genes like me logo Genes that share ontologies with C2CD4D: view

No data available for Pathways by source and SIGNOR curated interactions for C2CD4D Gene

Drugs & Compounds for C2CD4D Gene

No Compound Related Data Available

Transcripts for C2CD4D Gene

mRNA/cDNA for C2CD4D Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for C2CD4D Gene

C2 calcium-dependent domain containing 4D:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2CD4D Gene

No ASD Table

Relevant External Links for C2CD4D Gene

GeneLoc Exon Structure for
C2CD4D
ECgene alternative splicing isoforms for
C2CD4D

Expression for C2CD4D Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C2CD4D Gene

mRNA differential expression in normal tissues according to GTEx for C2CD4D Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x5.8) and Skin - Not Sun Exposed (Suprapubic) (x4.2).

NURSA nuclear receptor signaling pathways regulating expression of C2CD4D Gene:

C2CD4D

SOURCE GeneReport for Unigene cluster for C2CD4D Gene:

Hs.694717

Evidence on tissue expression from TISSUES for C2CD4D Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with C2CD4D: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C2CD4D Gene

Orthologs for C2CD4D Gene

This gene was present in the common ancestor of chordates.

Orthologs for C2CD4D Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2CD4D 33 34
  • 99.53 (n)
cow
(Bos Taurus)
Mammalia C2CD4D 33 34
  • 84.78 (n)
mouse
(Mus musculus)
Mammalia C2cd4d 33 16 34
  • 81.23 (n)
rat
(Rattus norvegicus)
Mammalia C2cd4d 33
  • 81.23 (n)
oppossum
(Monodelphis domestica)
Mammalia C2CD4D 34
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C2CD4D 34
  • 45 (a)
OneToOne
Species where no ortholog for C2CD4D 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C2CD4D Gene

ENSEMBL:
Gene Tree for C2CD4D (if available)
TreeFam:
Gene Tree for C2CD4D (if available)

Paralogs for C2CD4D Gene

Paralogs for C2CD4D Gene

genes like me logo Genes that share paralogs with C2CD4D: view

Variants for C2CD4D Gene

Sequence variations from dbSNP and Humsavar for C2CD4D Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000293983 -- 151,837,345(-) G/A downstream_transcript_variant
rs1000482938 -- 151,842,409(-) A/G upstream_transcript_variant
rs1002417879 -- 151,840,695(-) C/T upstream_transcript_variant
rs1002795354 -- 151,841,124(-) G/A upstream_transcript_variant
rs1003099428 -- 151,839,725(-) C/T 5_prime_UTR_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C2CD4D Gene

Variant ID Type Subtype PubMed ID
nsv1126220 CNV deletion 24896259
nsv516369 CNV gain 19592680

Variation tolerance for C2CD4D Gene

Gene Damage Index Score: 2.57; 44.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2CD4D Gene

Human Gene Mutation Database (HGMD)
C2CD4D
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2CD4D

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2CD4D Gene

Disorders for C2CD4D Gene

Additional Disease Information for C2CD4D

No disorders were found for C2CD4D Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2CD4D Gene

Publications for C2CD4D Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58
  3. 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) 4 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for C2CD4D Gene

Sources for C2CD4D Gene

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