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

Gene ID: 9847, updated on 3-Apr-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 cellular response to insulin stimulus; intracellular protein transmembrane transport; and positive regulation of transport. Located in several cellular components, including centriolar satellite; cytoplasmic vesicle membrane; and ruffle membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in thyroid (RPKM 12.3), colon (RPKM 12.2) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
12p12.1
Exon count:
35
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (22448583..22544542, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (22320046..22416003, complement)
105.20220307 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. 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
  2. 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
  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 (46) 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)

Genotypes

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 
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 glucose transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of 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_2023_10

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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