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    C2CD2L C2CD2 like [ Homo sapiens (human) ]

    Gene ID: 9854, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Ubiquitous expression in brain (RPKM 6.4), small intestine (RPKM 5.5) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    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_001290474.2NP_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:102253
      SMP_C2CD2L; Synaptotagmin-like, mitochondrial and lipid-binding domain
      cl14603
      Location:300412
      C2; C2 domain
    2. NM_001382611.1NP_001369540.1  phospholipid transfer protein C2CD2L isoform 3

      Status: VALIDATED

      Source sequence(s)
      AP003391
      Conserved Domains (2) summary
      pfam18696
      Location:102216
      SMP_C2CD2L; Synaptotagmin-like, mitochondrial and lipid-binding domain
      cl14603
      Location:263375
      C2; C2 domain
    3. NM_001382612.1NP_001369541.1  phospholipid transfer protein C2CD2L isoform 4

      Status: VALIDATED

      Source sequence(s)
      AP003391
      Conserved Domains (2) summary
      pfam18696
      Location:102253
      SMP_C2CD2L; Synaptotagmin-like, mitochondrial and lipid-binding domain
      cl14603
      Location:300412
      C2; C2 domain
    4. NM_001382613.1NP_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:102253
      SMP_C2CD2L; Synaptotagmin-like, mitochondrial and lipid-binding domain
      cl14603
      Location:300412
      C2; C2 domain
    5. NM_014807.5NP_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:300412
      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_047427937.1XP_047283893.1  phospholipid transfer protein C2CD2L isoform X1

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

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

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

      Conserved Domains (1) summary
      cl14603
      Location:263375
      C2; C2 domain
    5. XM_047427939.1XP_047283895.1  phospholipid transfer protein C2CD2L isoform X6

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

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

      Conserved Domains (1) summary
      cl14603
      Location:151263
      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_054370641.1XP_054226616.1  phospholipid transfer protein C2CD2L isoform X1

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

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

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

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

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

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