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

Gene ID: 9847, updated on 6-May-2021

Summary

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
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
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

See C2CD5 in Genome Data Viewer
Location:
12p12.1
Exon count:
35
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (22448577..22544542, complement)
105.20201022 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 uncharacterized LOC105369692 Neighboring gene leucine rich repeat containing 34 pseudogene 1 Neighboring gene ETNK1 divergent transcript

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
enables calcium-dependent phospholipid binding IDA
Inferred from Direct Assay
more info
PubMed 
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
PubMed 
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

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_001286173.2NP_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/Swiss-Prot
    Q86YS7
    Related
    ENSP00000439392.1, ENST00000536386.5
    Conserved Domains (1) summary
    cd08688
    Location:5114
    C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone
  2. NM_001286174.3NP_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/Swiss-Prot
    Q86YS7
    Related
    ENSP00000441951.1, ENST00000542676.5
    Conserved Domains (1) summary
    cd08688
    Location:5114
    C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone
  3. NM_001286175.2NP_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/Swiss-Prot
    Q86YS7
    Related
    ENSP00000443204.1, ENST00000545552.5
    Conserved Domains (1) summary
    cd08688
    Location:5114
    C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone
  4. NM_001286176.2NP_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/Swiss-Prot
    Q86YS7
    UniProtKB/TrEMBL
    B7ZLK1
    Related
    ENSP00000388756.1, ENST00000446597.5
    Conserved Domains (1) summary
    cd08688
    Location:5114
    C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone
  5. NM_001286177.2NP_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/Swiss-Prot
    Q86YS7
    Related
    ENSP00000379345.2, ENST00000396028.6
    Conserved Domains (1) summary
    cd08688
    Location:5114
    C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone
  6. NM_001385322.1NP_001372251.1  C2 domain-containing protein 5 isoform f

    Status: VALIDATED

    Source sequence(s)
    AC053513
  7. NM_001385323.1NP_001372252.1  C2 domain-containing protein 5 isoform g

    Status: VALIDATED

    Source sequence(s)
    AC053513
    Conserved Domains (1) summary
    cd08688
    Location:5114
    C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone
  8. NM_001385324.1NP_001372253.1  C2 domain-containing protein 5 isoform h

    Status: VALIDATED

    Source sequence(s)
    AC053513
    Conserved Domains (1) summary
    cd08688
    Location:5114
    C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone
  9. NM_001385325.1NP_001372254.1  C2 domain-containing protein 5 isoform i

    Status: VALIDATED

    Source sequence(s)
    AC053513
    Conserved Domains (1) summary
    cd08688
    Location:5114
    C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone
  10. NM_001385326.1NP_001372255.1  C2 domain-containing protein 5 isoform j

    Status: VALIDATED

    Source sequence(s)
    AC053513
    Conserved Domains (1) summary
    cd08688
    Location:5114
    C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone
  11. NM_001385327.1NP_001372256.1  C2 domain-containing protein 5 isoform k

    Status: VALIDATED

    Source sequence(s)
    AC053513
    Conserved Domains (1) summary
    cd08688
    Location:5114
    C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone
  12. NM_001385328.1NP_001372257.1  C2 domain-containing protein 5 isoform l

    Status: VALIDATED

    Source sequence(s)
    AC053513
    Conserved Domains (1) summary
    cd08688
    Location:5114
    C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone
  13. NM_001385329.1NP_001372258.1  C2 domain-containing protein 5 isoform m

    Status: VALIDATED

    Source sequence(s)
    AC053513
  14. NM_001385330.1NP_001372259.1  C2 domain-containing protein 5 isoform n

    Status: VALIDATED

    Source sequence(s)
    AC053513
  15. NM_001385331.1NP_001372260.1  C2 domain-containing protein 5 isoform o

    Status: VALIDATED

    Source sequence(s)
    AC053513
  16. NM_001385332.1NP_001372261.1  C2 domain-containing protein 5 isoform p

    Status: VALIDATED

    Source sequence(s)
    AC053513
  17. NM_001385333.1NP_001372262.1  C2 domain-containing protein 5 isoform q

    Status: VALIDATED

    Source sequence(s)
    AC053513
  18. NM_014802.3NP_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
    Q86YS7
    Related
    ENSP00000334229.4, ENST00000333957.8
    Conserved Domains (1) summary
    cd08688
    Location:5114
    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: Homo sapiens Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    22448577..22544542 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

  2. XM_017020269.1XP_016875758.1  C2 domain-containing protein 5 isoform X6

  3. XM_017020266.1XP_016875755.1  C2 domain-containing protein 5 isoform X3

  4. XM_017020264.1XP_016875753.1  C2 domain-containing protein 5 isoform X1

  5. XM_005253538.2XP_005253595.1  C2 domain-containing protein 5 isoform X17

    Conserved Domains (1) summary
    cd08688
    Location:5114
    C2_KIAA0528-like; C2 domain found in the Human KIAA0528 cDNA clone
  6. XM_017020273.1XP_016875762.1  C2 domain-containing protein 5 isoform X10

  7. XM_017020275.1XP_016875764.1  C2 domain-containing protein 5 isoform X12

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

  9. XM_017020267.1XP_016875756.1  C2 domain-containing protein 5 isoform X4

  10. XM_017020271.1XP_016875760.1  C2 domain-containing protein 5 isoform X8

  11. XM_017020279.1XP_016875768.1  C2 domain-containing protein 5 isoform X18

  12. XM_005253539.3XP_005253596.1  C2 domain-containing protein 5 isoform X19

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