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    C2CD2L C2CD2 like [ Homo sapiens (human) ]

    Gene ID: 9854, updated on 28-Oct-2024

    Summary

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    Official Symbol
    C2CD2Lprovided by HGNC
    Official Full Name
    C2CD2 likeprovided by HGNC
    Primary source
    HGNC:HGNC:29000
    See related
    Ensembl:ENSG00000172375 MIM:617582; AllianceGenome:HGNC:29000
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DLNB23; TMEM24
    Summary
    Enables phosphatidylinositol binding activity and phosphatidylinositol transfer activity. Involved in positive regulation of insulin secretion involved in cellular response to glucose stimulus. Located in cortical endoplasmic reticulum; cytoplasmic side of apical plasma membrane; and endoplasmic reticulum-plasma membrane contact site. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in brain (RPKM 6.4), small intestine (RPKM 5.5) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See C2CD2L in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (119102249..119118544)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (119127131..119138918)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118977460..118989254)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:118955192-118955889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:118963458-118963970 Neighboring gene hydroxymethylbilane synthase Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118965105-118965668 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118965669-118966232 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:118966233-118966796 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:118966797-118967358 Neighboring gene dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:118972216-118973415 Neighboring gene H2A.X variant histone Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3968 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3969 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3970 Neighboring gene histone H4 transcription factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5626 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3971 Neighboring gene ATP binding cassette subfamily G member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119027357-119027857 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:119029281-119029780

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Lipid transporter TMEM24/C2CD2L is a Ca(2+)-regulated component of ER-plasma membrane contacts in mammalian neurons. Sun EW, et al. Proc Natl Acad Sci U S A, 2019 Mar 19. PMID 30819882, Free PMC Article
    2. Lipid transport by TMEM24 at ER-plasma membrane contacts regulates pulsatile insulin secretion. Lees JA, et al. Science, 2017 Feb 17. PMID 28209843, Free PMC Article
    3. A complex of the lipid transport ER proteins TMEM24 and C2CD2 with band 4.1 at cell-cell contacts. Johnson B, et al. J Cell Biol, 2024 Nov 4. PMID 39158698, Free PMC Article
    4. Alt-RPL36 downregulates the PI3K-AKT-mTOR signaling pathway by interacting with TMEM24. Cao X, et al. Nat Commun, 2021 Jan 21. PMID 33479206, Free PMC Article
    5. Identification and characterization of TMEM24 family genes in silico. Katoh M, et al. Int J Oncol, 2004 Sep. PMID 15289880

    See all (36) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A complex of the lipid transport ER proteins TMEM24 and C2CD2 with band 4.1 at cell-cell contacts.
      Title: A complex of the lipid transport ER proteins TMEM24 and C2CD2 with band 4.1 at cell-cell contacts.
    2. Alt-RPL36 downregulates the PI3K-AKT-mTOR signaling pathway by interacting with TMEM24.
      Title: Alt-RPL36 downregulates the PI3K-AKT-mTOR signaling pathway by interacting with TMEM24.
    3. In the absence of TMEM24, calcium oscillations are abolished, leading to a defect in triggered insulin release.
      Title: Lipid transport by TMEM24 at ER-plasma membrane contacts regulates pulsatile insulin secretion.
    4. Paper describes the tissue distribution, interaction partners and pathway where this protein functions. This paper shows that C2CD2L (TMEM24) interacts with insulin and plays a role in Glucose stimulated insulin secretion in pancreatic islets. Also, at protein level shows enrichment for expression in pancreatic islets and brain.
      Title: Insulin biosynthetic interaction network component, TMEM24, facilitates insulin reserve pool release.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0285

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables insulin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatidylinositol binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphatidylinositol transfer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables phosphatidylinositol transfer activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intermembrane lipid transfer IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in phospholipid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cortical endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with cytoplasmic side of apical plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    colocalizes_with cytoplasmic side of apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum-plasma membrane contact site IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    phospholipid transfer protein C2CD2L
    Names
    C2 domain-containing protein 2-like
    transmembrane protein 24

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001290474.2 → NP_001277403.1  phospholipid transfer protein C2CD2L isoform 2

      See identical proteins and their annotated locations for NP_001277403.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site, compared to variant 1. The encoded protein (isoform 2) is shorter, compared to isoform 1. Variants 2 and 5 both encode the same isoform (2).
      Source sequence(s)
      AB094094, AP003391, BC022219, BX327704, CA309483, DA768421, DA801995
      Consensus CDS
      CCDS91609.1
      UniProtKB/Swiss-Prot
      O14523, Q86UT7, Q86V04, Q8N522, Q8TBN4, Q96G10
      Related
      ENSP00000497391.1, ENST00000648610.2
      Conserved Domains (2) summary
      pfam18696
      Location:102 → 253
      SMP_C2CD2L; Synaptotagmin-like, mitochondrial and lipid-binding domain
      cl14603
      Location:300 → 412
      C2; C2 domain

    2. NM_001382611.1 → NP_001369540.1  phospholipid transfer protein C2CD2L isoform 3

      Status: VALIDATED

      Source sequence(s)
      AP003391
      Conserved Domains (2) summary
      pfam18696
      Location:102 → 216
      SMP_C2CD2L; Synaptotagmin-like, mitochondrial and lipid-binding domain
      cl14603
      Location:263 → 375
      C2; C2 domain

    3. NM_001382612.1 → NP_001369541.1  phospholipid transfer protein C2CD2L isoform 4

      Status: VALIDATED

      Source sequence(s)
      AP003391
      Conserved Domains (2) summary
      pfam18696
      Location:102 → 253
      SMP_C2CD2L; Synaptotagmin-like, mitochondrial and lipid-binding domain
      cl14603
      Location:300 → 412
      C2; C2 domain

    4. NM_001382613.1 → NP_001369542.1  phospholipid transfer protein C2CD2L isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) represents the longest transcript. Variants 2 and 5 both encode the same isoform (2).
      Source sequence(s)
      AP003391
      Consensus CDS
      CCDS91609.1
      UniProtKB/Swiss-Prot
      O14523, Q86UT7, Q86V04, Q8N522, Q8TBN4, Q96G10
      Conserved Domains (2) summary
      pfam18696
      Location:102 → 253
      SMP_C2CD2L; Synaptotagmin-like, mitochondrial and lipid-binding domain
      cl14603
      Location:300 → 412
      C2; C2 domain

    5. NM_014807.5 → NP_055622.3  phospholipid transfer protein C2CD2L isoform 1

      See identical proteins and their annotated locations for NP_055622.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AB094094, AP003391, BC052246, BX327704, CA309483, DA768421
      Consensus CDS
      CCDS8413.1
      UniProtKB/Swiss-Prot
      O14523
      Related
      ENSP00000338885.3, ENST00000336702.7
      Conserved Domains (1) summary
      cl14603
      Location:300 → 412
      C2; C2 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      119102249..119118544
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427937.1 → XP_047283893.1  phospholipid transfer protein C2CD2L isoform X1

    2. XM_017018626.3 → XP_016874115.1  phospholipid transfer protein C2CD2L isoform X3

    3. XM_017018627.3 → XP_016874116.1  phospholipid transfer protein C2CD2L isoform X4

    4. XM_006718948.5 → XP_006719011.1  phospholipid transfer protein C2CD2L isoform X2

      Conserved Domains (1) summary
      cl14603
      Location:263 → 375
      C2; C2 domain

    5. XM_047427939.1 → XP_047283895.1  phospholipid transfer protein C2CD2L isoform X6

    6. XM_047427938.1 → XP_047283894.1  phospholipid transfer protein C2CD2L isoform X6

    7. XM_011543076.4 → XP_011541378.1  phospholipid transfer protein C2CD2L isoform X5

      Conserved Domains (1) summary
      cl14603
      Location:151 → 263
      C2; C2 domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      119127131..119138918
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370641.1 → XP_054226616.1  phospholipid transfer protein C2CD2L isoform X1

    2. XM_054370643.1 → XP_054226618.1  phospholipid transfer protein C2CD2L isoform X3

    3. XM_054370644.1 → XP_054226619.1  phospholipid transfer protein C2CD2L isoform X4

    4. XM_054370642.1 → XP_054226617.1  phospholipid transfer protein C2CD2L isoform X2

    5. XM_054370647.1 → XP_054226622.1  phospholipid transfer protein C2CD2L isoform X6

    6. XM_054370646.1 → XP_054226621.1  phospholipid transfer protein C2CD2L isoform X6

    7. XM_054370645.1 → XP_054226620.1  phospholipid transfer protein C2CD2L isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14523.3 GenPept UniProtKB/Swiss-Prot:O14523

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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