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C2CD2L C2CD2 like [ Homo sapiens (human) ]

Gene ID: 9854, updated on 5-Mar-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 and endoplasmic reticulum-plasma membrane contact site. Colocalizes with cytoplasmic side of apical plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
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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Location:
11q23.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (119102249..119118544)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (119127131..119138918)
105.20220307 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
  • 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. 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
  3. 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
  4. Insulin biosynthetic interaction network component, TMEM24, facilitates insulin reserve pool release. Pottekat A, et al. Cell Rep, 2013 Sep 12. PMID 24012759, 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 (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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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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_2023_10

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

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