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    C2CD5 C2 calcium dependent domain containing 5 [ Homo sapiens (human) ]

    Gene ID: 9847, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C2CD5provided by HGNC
    Official Full Name
    C2 calcium dependent domain containing 5provided by HGNC
    Primary source
    HGNC:HGNC:29062
    See related
    Ensembl:ENSG00000111731 MIM:618044; AllianceGenome:HGNC:29062
    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
    CDP138; KIAA0528
    Summary
    Enables calcium ion binding activity and calcium-dependent phospholipid binding activity. Involved in several processes, including insulin receptor signaling pathway; intracellular protein transmembrane transport; and positive regulation of protein targeting to membrane. Located in several cellular components, including centriolar satellite; cytoplasmic vesicle membrane; and ruffle membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 12.3), colon (RPKM 12.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C2CD5 in Genome Data Viewer
    Location:
    12p12.1
    Exon count:
    35
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (22448583..22544542, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (22320046..22416003, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (22601517..22697476, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 Neighboring gene uncharacterized LOC112268093 Neighboring gene uncharacterized LOC105369151 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4288 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:22589597-22590204 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:22590205-22590812 Neighboring gene Sharpr-MPRA regulatory region 11196 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr12:22695717-22696236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6098 Neighboring gene Sharpr-MPRA regulatory region 5250 Neighboring gene MPRA-validated peak1597 silencer Neighboring gene MPRA-validated peak1598 silencer Neighboring gene C2CD5 antisense RNA 1 Neighboring gene leucine rich repeat containing 34 pseudogene 1 Neighboring gene ETNK1 divergent transcript

    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. Proteomic analysis of the human cyclin-dependent kinase family reveals a novel CDK5 complex involved in cell growth and migration. Xu S, et al. Mol Cell Proteomics, 2014 Nov. PMID 25096995, Free PMC Article
    2. CDP138 silencing inhibits TGF-β/Smad signaling to impair radioresistance and metastasis via GDF15 in lung cancer. Lu Y, et al. Cell Death Dis, 2017 Sep 7. PMID 28880265, Free PMC Article
    3. Regulation of in vivo dynein force production by CDK5 and 14-3-3ε and KIAA0528. Chapman DE, et al. Nat Commun, 2019 Jan 16. PMID 30651536, Free PMC Article
    4. C2 domain-containing phosphoprotein CDP138 regulates GLUT4 insertion into the plasma membrane. Xie X, et al. Cell Metab, 2011 Sep 7. PMID 21907143, Free PMC Article
    5. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. Nagase T, et al. DNA Res, 1998 Feb 28. PMID 9628581

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA0528, DKFZp779N2044

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium-dependent phospholipid binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-dependent phospholipid binding 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 insulin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in insulin receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in intracellular protein transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in intracellular protein transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of D-glucose transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of D-glucose transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of protein targeting to membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of protein targeting to membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of vesicle fusion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of vesicle fusion IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in protein localization to plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centriolar satellite IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasmic vesicle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in ruffle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    C2 domain-containing protein 5
    Names
    138 kDa C2 domain-containing phosphoprotein

    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_001286173.2 → NP_001273102.1  C2 domain-containing protein 5 isoform c

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an exon and contains two alternate exons, but maintains the reading frame, compared to variant 1. The encoded isoform (c) is longer than isoform a.
      Source sequence(s)
      AK310753, AY166851, BC117143, BC143878, BP418369
      Consensus CDS
      CCDS66340.1
      UniProtKB/TrEMBL
      B7ZLK2
      Related
      ENSP00000439392.1, ENST00000536386.5
      Conserved Domains (1) summary
      cd08688
      Location:5 → 114
      C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone

    2. NM_001286174.3 → NP_001273103.1  C2 domain-containing protein 5 isoform a

      See identical proteins and their annotated locations for NP_001273103.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AK299353, AY166851, BP418369
      Consensus CDS
      CCDS66337.1
      UniProtKB/TrEMBL
      B7ZLK1
      Related
      ENSP00000441951.1, ENST00000542676.5
      Conserved Domains (1) summary
      cd08688
      Location:5 → 114
      C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone

    3. NM_001286175.2 → NP_001273104.1  C2 domain-containing protein 5 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an exon, contains two alternate exons, and uses an alternate splice site, but maintains the reading frame, compared to variant 1. The encoded isoform (b) is longer than isoform a.
      Source sequence(s)
      AK295862, AK310753, AY166851, BC117143, BP418369
      Consensus CDS
      CCDS66339.1
      UniProtKB/TrEMBL
      B7ZLK2
      Related
      ENSP00000443204.1, ENST00000545552.5
      Conserved Domains (1) summary
      cd08688
      Location:5 → 114
      C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone

    4. NM_001286176.2 → NP_001273105.1  C2 domain-containing protein 5 isoform a

      See identical proteins and their annotated locations for NP_001273105.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform a. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AK310753, AY166851, BC117143, BC143859, BP418369
      Consensus CDS
      CCDS66337.1
      UniProtKB/TrEMBL
      B7ZLK1
      Related
      ENSP00000388756.1, ENST00000446597.6
      Conserved Domains (1) summary
      cd08688
      Location:5 → 114
      C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone

    5. NM_001286177.2 → NP_001273106.1  C2 domain-containing protein 5 isoform d

      See identical proteins and their annotated locations for NP_001273106.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an exon and contains an alternate exon, but maintains the reading frame, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
      Source sequence(s)
      AK310753, AY166851, BC117143, BP418369
      Consensus CDS
      CCDS66338.1
      UniProtKB/TrEMBL
      B7ZLK2
      Related
      ENSP00000379345.2, ENST00000396028.6
      Conserved Domains (1) summary
      cd08688
      Location:5 → 114
      C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone

    6. NM_001385322.1 → NP_001372251.1  C2 domain-containing protein 5 isoform f

      Status: VALIDATED

      Source sequence(s)
      AC053513
      UniProtKB/TrEMBL
      B7ZLK1
      Conserved Domains (1) summary
      cd08688
      Location:5 → 114
      C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone

    7. NM_001385323.1 → NP_001372252.1  C2 domain-containing protein 5 isoform g

      Status: VALIDATED

      Source sequence(s)
      AC053513
      UniProtKB/TrEMBL
      B7ZLK2
      Conserved Domains (1) summary
      cd08688
      Location:5 → 114
      C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone

    8. NM_001385324.1 → NP_001372253.1  C2 domain-containing protein 5 isoform h

      Status: VALIDATED

      Source sequence(s)
      AC053513
      UniProtKB/TrEMBL
      B7ZLK1
      Conserved Domains (1) summary
      cd08688
      Location:5 → 114
      C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone

    9. NM_001385325.1 → NP_001372254.1  C2 domain-containing protein 5 isoform i

      Status: VALIDATED

      Source sequence(s)
      AC053513
      UniProtKB/TrEMBL
      B7ZLK2
      Conserved Domains (1) summary
      cd08688
      Location:5 → 114
      C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone

    10. NM_001385326.1 → NP_001372255.1  C2 domain-containing protein 5 isoform j

      Status: VALIDATED

      Source sequence(s)
      AC053513
      UniProtKB/TrEMBL
      B7ZLK2
      Conserved Domains (1) summary
      cd08688
      Location:5 → 114
      C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone

    11. NM_001385327.1 → NP_001372256.1  C2 domain-containing protein 5 isoform k

      Status: VALIDATED

      Source sequence(s)
      AC053513
      UniProtKB/TrEMBL
      B7ZLK1
      Conserved Domains (1) summary
      cd08688
      Location:5 → 114
      C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone

    12. NM_001385328.1 → NP_001372257.1  C2 domain-containing protein 5 isoform l

      Status: VALIDATED

      Source sequence(s)
      AC053513
      UniProtKB/TrEMBL
      B7ZLK2
      Conserved Domains (1) summary
      cd08688
      Location:5 → 114
      C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone

    13. NM_001385329.1 → NP_001372258.1  C2 domain-containing protein 5 isoform m

      Status: VALIDATED

      Source sequence(s)
      AC053513
      UniProtKB/TrEMBL
      B7ZLK1
      Conserved Domains (1) summary
      cl14603
      Location:5 → 85
      C2; C2 domain

    14. NM_001385330.1 → NP_001372259.1  C2 domain-containing protein 5 isoform n

      Status: VALIDATED

      Source sequence(s)
      AC053513
      UniProtKB/TrEMBL
      B7ZLK1
      Conserved Domains (1) summary
      cl14603
      Location:5 → 85
      C2; C2 domain

    15. NM_001385331.1 → NP_001372260.1  C2 domain-containing protein 5 isoform o

      Status: VALIDATED

      Source sequence(s)
      AC053513

    16. NM_001385332.1 → NP_001372261.1  C2 domain-containing protein 5 isoform p

      Status: VALIDATED

      Source sequence(s)
      AC053513

    17. NM_001385333.1 → NP_001372262.1  C2 domain-containing protein 5 isoform q

      Status: VALIDATED

      Source sequence(s)
      AC053513

    18. NM_014802.3 → NP_055617.1  C2 domain-containing protein 5 isoform e

      See identical proteins and their annotated locations for NP_055617.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) lacks two alternate exons, but maintains the reading frame, compared to variant 1. The encoded isoform (e) is shorter than isoform a.
      Source sequence(s)
      AK310753, AY166851, BP418369
      Consensus CDS
      CCDS31758.1
      UniProtKB/Swiss-Prot
      B4DJ03, B4DRN7, B7ZLL0, F5H2A1, F5H5R1, O60280, Q17RY7, Q7Z619, Q86SU3, Q86YS7
      UniProtKB/TrEMBL
      B7ZLK1
      Related
      ENSP00000334229.4, ENST00000333957.8
      Conserved Domains (1) summary
      cd08688
      Location:5 → 114
      C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone

    RNA

    1. NR_169598.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC053513

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      22448583..22544542 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047429935.1 → XP_047285891.1  C2 domain-containing protein 5 isoform X13

    2. XM_017020270.2 → XP_016875759.1  C2 domain-containing protein 5 isoform X7

      UniProtKB/TrEMBL
      B7ZLK1

    3. XM_047429934.1 → XP_047285890.1  C2 domain-containing protein 5 isoform X10

    4. XM_047429933.1 → XP_047285889.1  C2 domain-containing protein 5 isoform X9

    5. XM_047429932.1 → XP_047285888.1  C2 domain-containing protein 5 isoform X6

    6. XM_017020267.2 → XP_016875756.1  C2 domain-containing protein 5 isoform X4

      UniProtKB/TrEMBL
      B7ZLK1

    7. XM_017020269.2 → XP_016875758.1  C2 domain-containing protein 5 isoform X5

      UniProtKB/TrEMBL
      B7ZLK1

    8. XM_017020266.2 → XP_016875755.1  C2 domain-containing protein 5 isoform X3

      UniProtKB/TrEMBL
      B7ZLK1

    9. XM_017020265.2 → XP_016875754.1  C2 domain-containing protein 5 isoform X2

      UniProtKB/TrEMBL
      B7ZLK1

    10. XM_017020264.2 → XP_016875753.1  C2 domain-containing protein 5 isoform X1

      UniProtKB/TrEMBL
      B7ZLK1

    11. XM_005253538.3 → XP_005253595.1  C2 domain-containing protein 5 isoform X14

      UniProtKB/TrEMBL
      B7ZLK2
      Conserved Domains (1) summary
      cd08688
      Location:5 → 114
      C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone

    12. XM_017020273.2 → XP_016875762.1  C2 domain-containing protein 5 isoform X11

      UniProtKB/TrEMBL
      B7ZLK2

    13. XM_017020275.2 → XP_016875764.1  C2 domain-containing protein 5 isoform X12

      UniProtKB/TrEMBL
      B7ZLK2

    14. XM_017020271.2 → XP_016875760.1  C2 domain-containing protein 5 isoform X8

      UniProtKB/TrEMBL
      B7ZLK2

    15. XM_017020279.2 → XP_016875768.1  C2 domain-containing protein 5 isoform X15

    16. XM_005253539.4 → XP_005253596.1  C2 domain-containing protein 5 isoform X16

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      22320046..22416003 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054373943.1 → XP_054229918.1  C2 domain-containing protein 5 isoform X13

    2. XM_054373937.1 → XP_054229912.1  C2 domain-containing protein 5 isoform X7

    3. XM_054373940.1 → XP_054229915.1  C2 domain-containing protein 5 isoform X10

    4. XM_054373939.1 → XP_054229914.1  C2 domain-containing protein 5 isoform X9

    5. XM_054373936.1 → XP_054229911.1  C2 domain-containing protein 5 isoform X6

    6. XM_054373934.1 → XP_054229909.1  C2 domain-containing protein 5 isoform X4

    7. XM_054373935.1 → XP_054229910.1  C2 domain-containing protein 5 isoform X5

    8. XM_054373933.1 → XP_054229908.1  C2 domain-containing protein 5 isoform X3

    9. XM_054373932.1 → XP_054229907.1  C2 domain-containing protein 5 isoform X2

    10. XM_054373931.1 → XP_054229906.1  C2 domain-containing protein 5 isoform X1

    11. XM_054373944.1 → XP_054229919.1  C2 domain-containing protein 5 isoform X14

    12. XM_054373941.1 → XP_054229916.1  C2 domain-containing protein 5 isoform X11

    13. XM_054373942.1 → XP_054229917.1  C2 domain-containing protein 5 isoform X12

    14. XM_054373938.1 → XP_054229913.1  C2 domain-containing protein 5 isoform X8

    15. XM_054373945.1 → XP_054229920.1  C2 domain-containing protein 5 isoform X15

    16. XM_054373946.1 → XP_054229921.1  C2 domain-containing protein 5 isoform X16

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YS7.1 GenPept UniProtKB/Swiss-Prot:Q86YS7

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