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Aliases for C2CD2L Gene

Aliases for C2CD2L Gene

  • C2CD2 Like 2 3 5
  • Transmembrane Protein 24 2 3 4
  • C2 Domain-Containing Protein 2-Like 3 4
  • TMEM24 3 4
  • Phospholipid Transfer Protein C2CD2L 3
  • C2CD2-Like 4
  • KIAA0285 4
  • DLNB23 3

External Ids for C2CD2L Gene

Previous HGNC Symbols for C2CD2L Gene

  • TMEM24

Previous GeneCards Identifiers for C2CD2L Gene

  • GC11P118484
  • GC11P118978
  • GC11P114917

Summaries for C2CD2L Gene

GeneCards Summary for C2CD2L Gene

C2CD2L (C2CD2 Like) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include insulin binding. An important paralog of this gene is C2CD2.

UniProtKB/Swiss-Prot for C2CD2L Gene

  • Lipid-binding protein that transports phosphatidylinositol, the precursor of phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), from its site of synthesis in the endoplasmic reticulum to the cell membrane (PubMed:28209843). It thereby maintains the pool of cell membrane phosphoinositides, which are degraded during phospholipase C (PLC) signaling (PubMed:28209843). Plays a key role in the coordination of Ca(2+) and phosphoinositide signaling: localizes to sites of contact between the endoplasmic reticulum and the cell membrane, where it tethers the two bilayers (PubMed:28209843). In response to elevation of cytosolic Ca(2+), it is phosphorylated at its C-terminus and dissociates from the cell membrane, abolishing phosphatidylinositol transport to the cell membrane (PubMed:28209843). Positively regulates insulin secretion in response to glucose: phosphatidylinositol transfer to the cell membrane allows replenishment of PI(4,5)P2 pools and calcium channel opening, priming a new population of insulin granules (PubMed:28209843).

Additional gene information for C2CD2L Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C2CD2L Gene

Genomics for C2CD2L Gene

GeneHancer (GH) Regulatory Elements for C2CD2L Gene

Promoters and enhancers for C2CD2L 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
GH11I119100 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 556.1 0.0 -31 3.9 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 IRF4 YY1 C2CD2L DPAGT1 HINFP NLRX1 ABCG4 HMBS H2AFX
GH11I119106 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.4 +5.8 5781 3.9 HDGF PKNOX1 CLOCK FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 POLR2B DPAGT1 C2CD2L HINFP ENSG00000254909 UBE4A ARCN1 RPL23AP64 ENSG00000254428 BCL9L RPS25
GH11I119090 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 15.2 -8.5 -8526 5.9 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 GC11M119097 H2AFX KMT2A HINFP UBE4A ARCN1 BCL9L RPL5P30 ENSG00000254909 CCDC84
GH11I118906 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.1 -183.4 -183405 24.6 CLOCK MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 BCL9L DPAGT1 UBE4A ENSG00000254909 RPL23AP64 ARCN1 ENSG00000254428 RNF26 CCDC84 KMT2A
GH11I119066 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.9 -34.5 -34512 2.2 HDGF PKNOX1 CLOCK MLX ARNT ZFP64 ARID4B SIN3A DMAP1 YY1 VPS11 ENSG00000272186 DPAGT1 HMBS ARCN1 H2AFX C2CD2L KMT2A ENSG00000254909 SLC37A4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C2CD2L on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C2CD2L gene promoter:

Genomic Locations for C2CD2L Gene

Genomic Locations for C2CD2L Gene
chr11:119,102,198-119,118,544
(GRCh38/hg38)
Size:
16,347 bases
Orientation:
Plus strand
chr11:118,972,908-118,989,252
(GRCh37/hg19)

Genomic View for C2CD2L Gene

Genes around C2CD2L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C2CD2L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C2CD2L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C2CD2L Gene

Proteins for C2CD2L Gene

  • Protein details for C2CD2L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14523-C2C2L_HUMAN
    Recommended name:
    Phospholipid transfer protein C2CD2L
    Protein Accession:
    O14523
    Secondary Accessions:
    • Q86UT7
    • Q86V04
    • Q8N522
    • Q8TBN4
    • Q96G10

    Protein attributes for C2CD2L Gene

    Size:
    706 amino acids
    Molecular mass:
    76181 Da
    Quaternary structure:
    • Homodimer (PubMed:28209843).
    SequenceCaution:
    • Sequence=AAH10071.2; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH21254.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for C2CD2L Gene

    Alternative splice isoforms for C2CD2L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C2CD2L Gene

Post-translational modifications for C2CD2L Gene

  • Phosphorylation at the C-terminus acidifies the protein and leads to disassociation from the acidic cell membrane. Reassociates with the cell membrane upon dephosphorylation.
  • Ubiquitination at Lys271

No data available for DME Specific Peptides for C2CD2L Gene

Domains & Families for C2CD2L Gene

Gene Families for C2CD2L Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for C2CD2L Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C2CD2L Gene

Graphical View of Domain Structure for InterPro Entry

O14523

UniProtKB/Swiss-Prot:

C2C2L_HUMAN :
  • The SMP-LBD domain is a lipid transport module, which binds glycerolipids with a preference for phosphatidylinositol (PI).
Domain:
  • The SMP-LBD domain is a lipid transport module, which binds glycerolipids with a preference for phosphatidylinositol (PI).
genes like me logo Genes that share domains with C2CD2L: view

Function for C2CD2L Gene

Molecular function for C2CD2L Gene

UniProtKB/Swiss-Prot Function:
Lipid-binding protein that transports phosphatidylinositol, the precursor of phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), from its site of synthesis in the endoplasmic reticulum to the cell membrane (PubMed:28209843). It thereby maintains the pool of cell membrane phosphoinositides, which are degraded during phospholipase C (PLC) signaling (PubMed:28209843). Plays a key role in the coordination of Ca(2+) and phosphoinositide signaling: localizes to sites of contact between the endoplasmic reticulum and the cell membrane, where it tethers the two bilayers (PubMed:28209843). In response to elevation of cytosolic Ca(2+), it is phosphorylated at its C-terminus and dissociates from the cell membrane, abolishing phosphatidylinositol transport to the cell membrane (PubMed:28209843). Positively regulates insulin secretion in response to glucose: phosphatidylinositol transfer to the cell membrane allows replenishment of PI(4,5)P2 pools and calcium channel opening, priming a new population of insulin granules (PubMed:28209843).

Phenotypes From GWAS Catalog for C2CD2L Gene

Gene Ontology (GO) - Molecular Function for C2CD2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005548 phospholipid transporter activity IDA 28209843
GO:0008289 lipid binding IEA --
GO:0008526 phosphatidylinositol transporter activity IDA 28209843
GO:0035091 phosphatidylinositol binding IDA 28209843
GO:0043559 insulin binding IEA --
genes like me logo Genes that share ontologies with C2CD2L: view
genes like me logo Genes that share phenotypes with C2CD2L: view

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C2CD2L Gene

Localization for C2CD2L Gene

Subcellular locations from UniProtKB/Swiss-Prot for C2CD2L Gene

Endoplasmic reticulum membrane; Single-pass membrane protein. Cell membrane; Peripheral membrane protein. Note=Localizes to sites of contact between the endoplasmic reticulum and the cell membrane (PubMed:28209843). Embedded into the endoplamic reticulum membrane via its N-terminal transmembrane domain and associates with cell membrane via its C-terminus (PubMed:28209843). In response to elevation of cytosolic Ca(2+), it is phosphorylated at its C-terminus and dissociates from the cell membrane and localizes to the reticular endoplamic reticulum (PubMed:28209843). Reassociates with cell membrane upon dephosphorylation (PubMed:28209843). {ECO:0000269 PubMed:28209843}.

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 C2CD2L gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
extracellular 2
nucleus 2
cytosol 2
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear membrane (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for C2CD2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with C2CD2L: view

Pathways & Interactions for C2CD2L Gene

SuperPathways for C2CD2L Gene

No Data Available

Interacting Proteins for C2CD2L Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000338885%0d%0a9606.ENSP00000345259%0d%0a
Selected Interacting proteins: O14523-C2C2L_HUMAN ENSP00000338885 for C2CD2L Gene via IID STRING

Gene Ontology (GO) - Biological Process for C2CD2L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006869 lipid transport IEA --
GO:0015914 phospholipid transport IEA --
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP,IEA 28209843
genes like me logo Genes that share ontologies with C2CD2L: view

No data available for Pathways by source and SIGNOR curated interactions for C2CD2L Gene

Drugs & Compounds for C2CD2L Gene

No Compound Related Data Available

Transcripts for C2CD2L Gene

Unigene Clusters for C2CD2L Gene

C2CD2-like:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C2CD2L Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for C2CD2L Gene

GeneLoc Exon Structure for
C2CD2L
ECgene alternative splicing isoforms for
C2CD2L

Expression for C2CD2L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C2CD2L Gene

Protein differential expression in normal tissues from HIPED for C2CD2L Gene

This gene is overexpressed in Nasal epithelium (24.3) and Lung (22.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C2CD2L Gene



Protein tissue co-expression partners for C2CD2L Gene

NURSA nuclear receptor signaling pathways regulating expression of C2CD2L Gene:

C2CD2L

SOURCE GeneReport for Unigene cluster for C2CD2L Gene:

Hs.26899

Evidence on tissue expression from TISSUES for C2CD2L Gene

  • Nervous system(4.6)
  • Pancreas(4.3)
  • Blood(4.1)
genes like me logo Genes that share expression patterns with C2CD2L: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C2CD2L Gene

Orthologs for C2CD2L Gene

This gene was present in the common ancestor of chordates.

Orthologs for C2CD2L Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C2CD2L 33 34
  • 99.72 (n)
cow
(Bos Taurus)
Mammalia C2CD2L 33 34
  • 91.37 (n)
dog
(Canis familiaris)
Mammalia C2CD2L 33 34
  • 91.32 (n)
mouse
(Mus musculus)
Mammalia C2cd2l 33 16 34
  • 88.24 (n)
rat
(Rattus norvegicus)
Mammalia C2cd2l 33
  • 87.91 (n)
oppossum
(Monodelphis domestica)
Mammalia C2CD2L 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves C2CD2L 33 34
  • 65.6 (n)
lizard
(Anolis carolinensis)
Reptilia C2CD2L 34
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c2cd2l 33
  • 54.16 (n)
Str.12072 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.10517 33
zebrafish
(Danio rerio)
Actinopterygii c2cd2l 33 34
  • 59.48 (n)
Species where no ortholog for C2CD2L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C2CD2L Gene

ENSEMBL:
Gene Tree for C2CD2L (if available)
TreeFam:
Gene Tree for C2CD2L (if available)

Paralogs for C2CD2L Gene

Paralogs for C2CD2L Gene

(1) SIMAP similar genes for C2CD2L Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with C2CD2L: view

Variants for C2CD2L Gene

Sequence variations from dbSNP and Humsavar for C2CD2L Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000033841 -- 119,115,759(+) T/C intron_variant
rs1000060882 -- 119,106,781(+) G/A upstream_transcript_variant
rs1000088629 -- 119,106,598(+) T/C upstream_transcript_variant
rs1000565819 -- 119,109,423(+) C/G intron_variant
rs1000694241 -- 119,118,288(+) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for C2CD2L Gene

Variant ID Type Subtype PubMed ID
nsv468879 CNV loss 19166990
nsv514 CNV deletion 18451855
nsv556466 CNV loss 21841781

Variation tolerance for C2CD2L Gene

Residual Variation Intolerance Score: 53.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.46; 77.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C2CD2L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C2CD2L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C2CD2L Gene

Disorders for C2CD2L Gene

Additional Disease Information for C2CD2L

No disorders were found for C2CD2L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C2CD2L Gene

Publications for C2CD2L Gene

  1. Identification and characterization of TMEM24 family genes in silico. (PMID: 15289880) Katoh M … Katoh M (International journal of oncology 2004) 2 3 22 58
  2. Lipid transport by TMEM24 at ER-plasma membrane contacts regulates pulsatile insulin secretion. (PMID: 28209843) Lees JA … Reinisch KM (Science (New York, N.Y.) 2017) 3 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) 3 4 58
  4. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PMID: 12168954) Nakajima D … Nagase T (DNA research : an international journal for rapid publication of reports on genes and genomes 2002) 3 4 58
  5. Construction and characterization of human brain cDNA libraries suitable for analysis of cDNA clones encoding relatively large proteins. (PMID: 9179496) Ohara O … Nomura N (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 3 4 58

Products for C2CD2L Gene

Sources for C2CD2L Gene

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