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    CCDC7 coiled-coil domain containing 7 [ Homo sapiens (human) ]

    Gene ID: 79741, updated on 5-Mar-2024

    Summary

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    Official Symbol
    CCDC7provided by HGNC
    Official Full Name
    coiled-coil domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:26533
    See related
    Ensembl:ENSG00000216937 MIM:619444; AllianceGenome:HGNC:26533
    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
    BIOT2; BioT2-A; BioT2-B; BioT2-C; C10orf68
    Expression
    Biased expression in testis (RPKM 14.7) and thyroid (RPKM 0.4) See more
    Orthologs
    all
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    Genomic context

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    Location:
    10p11.22
    Exon count:
    60
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (32443324..32882864)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (32474832..32911592)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (32735068..33171792)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene enhancer of polycomb homolog 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2287 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2288 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:32667292-32667792 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:32667793-32668293 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:32668668-32668769 Neighboring gene EPC1 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1244, pseudogene Neighboring gene uncharacterized LOC101929431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3248 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:32790971-32791162 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:32805360-32805595 Neighboring gene C1D nuclear receptor corepressor pseudogene 1 Neighboring gene uncharacterized LOC124902406 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:33176139-33176640 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:33176641-33177140 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3249 Neighboring gene small nucleolar RNA, H/ACA box 86 Neighboring gene integrin subunit beta 1 Neighboring gene AK3 pseudogene 5

    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. Novel gene hBiot2 is an independent prognostic factor in colorectal cancer patients. Shen YM, et al. Oncol Rep, 2012 Feb. PMID 22024937
    2. Overexpression of the hBiot2 gene is associated with development of human cervical cancer. Shen YM, et al. Oncol Rep, 2011 Jan. PMID 21109960
    3. RNA interference against Biot2, a novel mouse testis-specific gene, inhibits the growth of tumor cells. Wang CT, et al. Cell Mol Biol Lett, 2009. PMID 19277478, Free PMC Article
    4. KIF5B gene sequence variation and response of cardiac stroke volume to regular exercise. Argyropoulos G, et al. Physiol Genomics, 2009 Jan 8. PMID 18984674, Free PMC Article
    5. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Hu Q, et al. Cell Res, 2019 Apr. PMID 30631154, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    2. A higher expression of hBiot2 in primary CRC patients independently indicates a poorer prognosis.
      Title: Novel gene hBiot2 is an independent prognostic factor in colorectal cancer patients.
    3. Overexpression of hBiot2 is associated with early and interim development of human cervical cancer.
      Title: Overexpression of the hBiot2 gene is associated with development of human cervical cancer.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: KIF5B gene sequence variation and response of cardiac stroke volume to regular exercise.
    Submit: New GeneRIF Correction

    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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ13031, FLJ25419, FLJ32762, MGC26635, MGC35087, MGC149767, dJ1104A8.1, DKFZp686N0559, RP11-479G22.1

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 7; uncharacterized protein C10orf68
    Names
    epididymis secretory sperm binding protein

    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_001026383.3 → NP_001021554.1  coiled-coil domain-containing protein 7 isoform a

      See identical proteins and their annotated locations for NP_001021554.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein (isoform a).
      Source sequence(s)
      BC042672, HY009015
      Consensus CDS
      CCDS7173.1
      UniProtKB/TrEMBL
      A0A384NKY2
      Related
      ENSP00000277657.6, ENST00000277657.12
      Conserved Domains (2) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2
      cl25732
      Location:113 → 439
      SMC_N; RecF/RecN/SMC N terminal domain

    2. NM_001321115.2 → NP_001308044.1  uncharacterized protein C10orf68 isoform c

      Status: VALIDATED

      Source sequence(s)
      AA401575, AL354750, AL356053, AL365203, AL391839, AL591850
      Consensus CDS
      CCDS86081.1
      UniProtKB/Swiss-Prot
      B0QZ71, Q08AN7, Q5VW55, Q8IVQ0, Q8N7T7, Q8NEQ0, Q96M83, Q9H943
      Conserved Domains (2) summary
      PTZ00121
      Location:164 → 637
      PTZ00121; MAEBL; Provisional
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    3. NM_001395015.1 → NP_001381944.1  uncharacterized protein C10orf68 isoform c

      Status: VALIDATED

      Source sequence(s)
      AL354750, AL356053, AL365203, AL391839, AL591850
      Consensus CDS
      CCDS86081.1
      UniProtKB/Swiss-Prot
      B0QZ71, Q08AN7, Q5VW55, Q8IVQ0, Q8N7T7, Q8NEQ0, Q96M83, Q9H943
      Related
      ENSP00000491655.1, ENST00000639629.2
      Conserved Domains (2) summary
      PTZ00121
      Location:164 → 637
      PTZ00121; MAEBL; Provisional
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    4. NM_001395233.1 → NP_001382162.1  uncharacterized protein C10orf68 isoform d

      Status: VALIDATED

      Source sequence(s)
      AL354750, AL356053, AL391839

    5. NM_145023.6 → NP_659460.3  coiled-coil domain-containing protein 7 isoform a

      See identical proteins and their annotated locations for NP_659460.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a. Variants 1 and 2 encode the same protein (isoform a).
      Source sequence(s)
      BC022020, BC042672, HY009015
      Consensus CDS
      CCDS7173.1
      UniProtKB/TrEMBL
      A0A384NKY2
      Related
      ENSP00000355078.5, ENST00000362006.11
      Conserved Domains (2) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2
      cl25732
      Location:113 → 439
      SMC_N; RecF/RecN/SMC N terminal domain

    RNA

    1. NR_109826.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks an alternate, internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK057324, BC022020
      Related
      ENST00000476558.7

    2. NR_109827.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) has multiple differences, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AL354750, AL391839, BX647771, HY009015
      Related
      ENST00000545067.6

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      32443324..32882864
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425743.1 → XP_047281699.1  uncharacterized protein C10orf68 isoform X1

      UniProtKB/Swiss-Prot
      B0QZ71, Q08AN7, Q5VW55, Q8IVQ0, Q8N7T7, Q8NEQ0, Q96M83, Q9H943

    2. XM_047425742.1 → XP_047281698.1  uncharacterized protein C10orf68 isoform X1

      UniProtKB/Swiss-Prot
      B0QZ71, Q08AN7, Q5VW55, Q8IVQ0, Q8N7T7, Q8NEQ0, Q96M83, Q9H943

    3. XM_011519667.1 → XP_011517969.1  uncharacterized protein C10orf68 isoform X6

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    4. XM_011519666.1 → XP_011517968.1  uncharacterized protein C10orf68 isoform X7

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    5. XM_047425744.1 → XP_047281700.1  uncharacterized protein C10orf68 isoform X14

    6. XM_011519671.1 → XP_011517973.1  uncharacterized protein C10orf68 isoform X11

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    7. XM_011519674.1 → XP_011517976.1  uncharacterized protein C10orf68 isoform X15

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    8. XM_017016640.1 → XP_016872129.1  uncharacterized protein C10orf68 isoform X16

    9. XM_017016638.1 → XP_016872127.1  uncharacterized protein C10orf68 isoform X5

    10. XM_011519673.1 → XP_011517975.1  uncharacterized protein C10orf68 isoform X13

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    11. XM_011519676.1 → XP_011517978.1  uncharacterized protein C10orf68 isoform X19

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    12. XM_011519672.1 → XP_011517974.1  uncharacterized protein C10orf68 isoform X12

      Conserved Domains (2) summary
      PTZ00121
      Location:200 → 828
      PTZ00121; MAEBL; Provisional
      TIGR02168
      Location:113 → 439
      SMC_prok_B; chromosome segregation protein SMC, common bacterial type

    13. XM_011519678.1 → XP_011517980.1  uncharacterized protein C10orf68 isoform X21

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    14. XM_011519670.1 → XP_011517972.1  uncharacterized protein C10orf68 isoform X10

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    15. XM_011519669.1 → XP_011517971.1  uncharacterized protein C10orf68 isoform X9

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    16. XM_011519675.1 → XP_011517977.1  uncharacterized protein C10orf68 isoform X17

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    17. XM_006717505.1 → XP_006717568.1  uncharacterized protein C10orf68 isoform X18

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    18. XM_006717506.1 → XP_006717569.1  uncharacterized protein C10orf68 isoform X22

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    19. XM_047425746.1 → XP_047281702.1  uncharacterized protein C10orf68 isoform X23

    20. XM_011519677.1 → XP_011517979.1  uncharacterized protein C10orf68 isoform X20

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    21. XM_011519679.1 → XP_011517981.1  uncharacterized protein C10orf68 isoform X24

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    22. XM_011519668.1 → XP_011517970.1  uncharacterized protein C10orf68 isoform X8

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    23. XM_024448166.1 → XP_024303934.1  uncharacterized protein C10orf68 isoform X4

      Conserved Domains (3) summary
      pfam15368
      Location:1 → 159
      BioT2; Spermatogenesis family BioT2
      cl25732
      Location:113 → 428
      SMC_N; RecF/RecN/SMC N terminal domain
      cl26511
      Location:189 → 925
      Neuromodulin_N; Gap junction protein N-terminal region

    24. XM_024448165.1 → XP_024303933.1  uncharacterized protein C10orf68 isoform X3

      Conserved Domains (2) summary
      pfam15368
      Location:1 → 163
      BioT2; Spermatogenesis family BioT2
      cl26511
      Location:148 → 630
      Neuromodulin_N; Gap junction protein N-terminal region

    25. XM_011519664.1 → XP_011517966.1  uncharacterized protein C10orf68 isoform X2

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    26. XM_017016644.1 → XP_016872133.1  uncharacterized protein C10orf68 isoform X28

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    27. XM_017016647.3 → XP_016872136.1  uncharacterized protein C10orf68 isoform X31

    28. XM_011519684.4 → XP_011517986.1  uncharacterized protein C10orf68 isoform X32

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    29. XM_011519686.3 → XP_011517988.1  uncharacterized protein C10orf68 isoform X34

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    30. XM_017016651.1 → XP_016872140.1  uncharacterized protein C10orf68 isoform X36

    31. XM_011519688.3 → XP_011517990.1  uncharacterized protein C10orf68 isoform X39

      Conserved Domains (1) summary
      pfam15368
      Location:1 → 170
      BioT2; Spermatogenesis family BioT2

    32. XM_017016643.1 → XP_016872132.1  uncharacterized protein C10orf68 isoform X27

    33. XM_047425747.1 → XP_047281703.1  uncharacterized protein C10orf68 isoform X29

    34. XM_011519680.3 → XP_011517982.1  uncharacterized protein C10orf68 isoform X26

      Conserved Domains (1) summary
      PRK10929
      Location:172 → 408
      PRK10929; putative mechanosensitive channel protein; Provisional

    35. XM_017016642.2 → XP_016872131.1  uncharacterized protein C10orf68 isoform X26

      Conserved Domains (1) summary
      PRK10929
      Location:172 → 408
      PRK10929; putative mechanosensitive channel protein; Provisional

    36. XM_017016641.2 → XP_016872130.1  uncharacterized protein C10orf68 isoform X25

    37. XM_017016646.1 → XP_016872135.1  uncharacterized protein C10orf68 isoform X29

      Conserved Domains (1) summary
      cl26511
      Location:6 → 332
      Neuromodulin_N; Gap junction protein N-terminal region

    38. XM_011519683.2 → XP_011517985.1  uncharacterized protein C10orf68 isoform X30

      Conserved Domains (1) summary
      PRK10929
      Location:85 → 321
      PRK10929; putative mechanosensitive channel protein; Provisional

    39. XM_017016648.1 → XP_016872137.1  uncharacterized protein C10orf68 isoform X33

    40. XM_017016652.2 → XP_016872141.1  uncharacterized protein C10orf68 isoform X37

    41. XM_017016649.2 → XP_016872138.1  uncharacterized protein C10orf68 isoform X35

    42. XM_047425748.1 → XP_047281704.1  uncharacterized protein C10orf68 isoform X35

    43. XM_011519687.1 → XP_011517989.1  uncharacterized protein C10orf68 isoform X38

      Related
      ENSP00000364168.5, ENST00000375028.9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      32474832..32911592
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_024688.2: Suppressed sequence

      Description
      NM_024688.2: This RefSeq was removed because currently there is insufficient support for the transcript and the protein. It is now determined to be partial at the 5' end.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96M83.3 GenPept UniProtKB/Swiss-Prot:Q96M83

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