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C2CD2L C2CD2 like [ Homo sapiens (human) ]

Gene ID: 9854, updated on 26-Oct-2022

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 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

See C2CD2L in Genome Data Viewer
Location:
11q23.3
Exon count:
17
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (119102249..119118544)
110 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 hydroxymethylbilane synthase Neighboring gene dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Neighboring gene H2A.X variant histone Neighboring gene histone H4 transcription factor Neighboring gene ATP binding cassette subfamily G member 4

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

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
PubMed 
enables phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
PubMed 
enables phosphatidylinositol transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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)

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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_001290474.2NP_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, 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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)