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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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