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C2CD2L C2CD2 like [ Homo sapiens (human) ]

Gene ID: 9854, updated on 8-Oct-2018

Summary

Official Symbol
C2CD2Lprovided by HGNC
Official Full Name
C2CD2 likeprovided by HGNC
Primary source
HGNC:HGNC:29000
See related
Ensembl:ENSG00000172375 MIM:617582; Vega:OTTHUMG00000166167
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
Expression
Ubiquitous expression in brain (RPKM 6.4), small intestine (RPKM 5.5) and 25 other tissues See more
Orthologs

Genomic context

See C2CD2L in Genome Data Viewer
Location:
11q23.3
Exon count:
15
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (119106752..119118347)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (118977771..118988304)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H2A histone family member X Neighboring gene uncharacterized LOC107984397 Neighboring gene dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 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 Jun 15 11:32:44 2016

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
insulin binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
PubMed 
phosphatidylinositol transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
phospholipid transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
phospholipid transport IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cortical endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with cytoplasmic side of apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001290474.1NP_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.
    Source sequence(s)
    AB094094, BC022219, BX327704, CA309483, DA768421, DA801995
    UniProtKB/Swiss-Prot
    O14523
    Related
    ENSP00000497391.1, ENST00000648610.1
    Conserved Domains (1) summary
    cl14603
    Location:300412
    C2; C2 domain
  2. NM_014807.4NP_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) represents the longer transcript and encodes the longer protein (isoform 1).
    Source sequence(s)
    AB094094, BC052246, BX327704, CA309483, DA768421
    Consensus CDS
    CCDS8413.1
    UniProtKB/Swiss-Prot
    O14523
    Related
    ENSP00000338885.3, OTTHUMP00000232079, ENST00000336702.7, OTTHUMT00000388197
    Conserved Domains (1) summary
    cl14603
    Location:300412
    C2; C2 domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    119106752..119118347
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_017018627.2XP_016874116.1  phospholipid transfer protein C2CD2L isoform X4

  3. XM_006718948.4XP_006719011.1  phospholipid transfer protein C2CD2L isoform X1

    Conserved Domains (1) summary
    cl14603
    Location:263375
    C2; C2 domain
  4. XM_017018625.2XP_016874114.1  phospholipid transfer protein C2CD2L isoform X2

  5. XM_011543076.3XP_011541378.1  phospholipid transfer protein C2CD2L isoform X5

    Conserved Domains (1) summary
    cl14603
    Location:151263
    C2; C2 domain
  6. XM_017018628.1XP_016874117.1  phospholipid transfer protein C2CD2L isoform X6

RNA

  1. XR_001748054.2 RNA Sequence

  2. XR_001748053.2 RNA Sequence

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