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    CCDC138 coiled-coil domain containing 138 [ Homo sapiens (human) ]

    Gene ID: 165055, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CCDC138provided by HGNC
    Official Full Name
    coiled-coil domain containing 138provided by HGNC
    Primary source
    HGNC:HGNC:26531
    See related
    Ensembl:ENSG00000163006 AllianceGenome:HGNC:26531
    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
    Expression
    Broad expression in testis (RPKM 1.8), lymph node (RPKM 0.7) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC138 in Genome Data Viewer
    Location:
    2q13
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (108786750..108885485)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (109247356..109346048)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (109403206..109501941)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene cytochrome c oxidase subunit 7B, mitochondrial-like Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:109334881-109335811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:109335812-109336741 Neighboring gene NANOG hESC enhancer GRCh37_chr2:109343044-109343584 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11852 Neighboring gene ribosomal protein L10 pseudogene 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:109407142-109407316 Neighboring gene RAN binding protein 2 Neighboring gene MPRA-validated peak3811 silencer Neighboring gene MPRA-validated peak3812 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109526299-109526800 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109545693-109546192 Neighboring gene ribosomal protein L39 pseudogene 16 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:109573418-109574617 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:109588237-109589436 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109589833-109590332 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109604149-109604650 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:109636621-109637336 Neighboring gene ectodysplasin A receptor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:109663535-109664035 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:109685726-109686670 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:109705183-109705390 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:109719016-109719749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11856 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11857 Neighboring gene SH3RF3 antisense RNA 1 Neighboring gene SH3 domain containing ring finger 3

    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. Integration of over 9,000 mass spectrometry experiments builds a global map of human protein complexes. Drew K, et al. Mol Syst Biol, 2017 Jun 8. PMID 28596423, Free PMC Article
    2. Decoding the fine-scale structure of a breast cancer genome and transcriptome. Volik S, et al. Genome Res, 2006 Mar. PMID 16461635, Free PMC Article
    3. Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly. Rodriguez-Calado S, et al. Int J Mol Sci, 2023 Jan 9. PMID 36674791, Free PMC Article
    4. Proximity labeling reveals OTUD3 as a DNA-binding deubiquitinase of cGAS. Lyu H, et al. Cell Rep, 2023 Apr 25. PMID 36966392
    5. Proximity interactions among centrosome components identify regulators of centriole duplication. Firat-Karalar EN, et al. Curr Biol, 2014 Mar 17. PMID 24613305, Free PMC Article

    See all (43) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32745

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 138

    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_001303105.2 → NP_001290034.1  coiled-coil domain-containing protein 138 isoform 2

      See identical proteins and their annotated locations for NP_001290034.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, which results in a frameshift compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC010095, AC073415
      Consensus CDS
      CCDS77447.1
      UniProtKB/Swiss-Prot
      Q96M89
      Related
      ENSP00000411800.2, ENST00000412964.6
      Conserved Domains (2) summary
      pfam12718
      Location:213 → 320
      Tropomyosin_1; Tropomyosin like
      cl19511
      Location:212 → 315
      DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)

    2. NM_001303106.2 → NP_001290035.1  coiled-coil domain-containing protein 138 isoform 3

      See identical proteins and their annotated locations for NP_001290035.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in its 5' UTR which results in the use of a downstream in-frame start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus, compared to variant 1. Variants 3 and 16 both encode the same isoform (3).
      Source sequence(s)
      AC010095, AC073415

    3. NM_001351544.2 → NP_001338473.1  coiled-coil domain-containing protein 138 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) encodes the longest isoform (4).
      Source sequence(s)
      AC010095, AC073415
      Conserved Domains (1) summary
      cl25732
      Location:169 → 346
      SMC_N; RecF/RecN/SMC N terminal domain

    4. NM_001351545.1 → NP_001338474.1  coiled-coil domain-containing protein 138 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415, BG216415, BQ007723
      Conserved Domains (1) summary
      cl25732
      Location:158 → 335
      SMC_N; RecF/RecN/SMC N terminal domain

    5. NM_001351548.1 → NP_001338477.1  coiled-coil domain-containing protein 138 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415, BG216415, BQ007723
      Conserved Domains (1) summary
      cl25732
      Location:121 → 298
      SMC_N; RecF/RecN/SMC N terminal domain

    6. NM_001351549.2 → NP_001338478.1  coiled-coil domain-containing protein 138 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415
      Conserved Domains (1) summary
      cl25732
      Location:163 → 340
      SMC_N; RecF/RecN/SMC N terminal domain

    7. NM_001351551.2 → NP_001338480.1  coiled-coil domain-containing protein 138 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415
      Conserved Domains (1) summary
      cl25732
      Location:164 → 320
      SMC_N; RecF/RecN/SMC N terminal domain

    8. NM_001351553.2 → NP_001338482.1  coiled-coil domain-containing protein 138 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415
      Conserved Domains (1) summary
      cl25732
      Location:169 → 346
      SMC_N; RecF/RecN/SMC N terminal domain

    9. NM_001351554.2 → NP_001338483.1  coiled-coil domain-containing protein 138 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415
      Conserved Domains (1) summary
      cl25732
      Location:170 → 326
      SMC_N; RecF/RecN/SMC N terminal domain

    10. NM_001351555.2 → NP_001338484.1  coiled-coil domain-containing protein 138 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415
      Conserved Domains (1) summary
      cl25732
      Location:164 → 320
      SMC_N; RecF/RecN/SMC N terminal domain

    11. NM_001351557.1 → NP_001338486.1  coiled-coil domain-containing protein 138 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415
      Conserved Domains (2) summary
      cl19252
      Location:208 → 464
      MreC; rod shape-determining protein MreC
      cl25732
      Location:158 → 335
      SMC_N; RecF/RecN/SMC N terminal domain

    12. NM_001351559.2 → NP_001338488.1  coiled-coil domain-containing protein 138 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415
      Conserved Domains (1) summary
      cl25732
      Location:163 → 340
      SMC_N; RecF/RecN/SMC N terminal domain

    13. NM_001351561.1 → NP_001338490.1  coiled-coil domain-containing protein 138 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415, BG216415, BQ007723
      Conserved Domains (1) summary
      cl25732
      Location:158 → 335
      SMC_N; RecF/RecN/SMC N terminal domain

    14. NM_001351565.2 → NP_001338494.1  coiled-coil domain-containing protein 138 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (16), as well as variant 3, encodes isoform 3.
      Source sequence(s)
      AC010095, AC073415

    15. NM_144978.3 → NP_659415.1  coiled-coil domain-containing protein 138 isoform 1

      See identical proteins and their annotated locations for NP_659415.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC010095, AC073415
      Consensus CDS
      CCDS2080.1
      UniProtKB/Swiss-Prot
      Q05DF1, Q4ZG07, Q53TE1, Q6ZUY5, Q86VL7, Q96M89
      Related
      ENSP00000295124.4, ENST00000295124.9
      Conserved Domains (2) summary
      pfam12718
      Location:213 → 320
      Tropomyosin_1; Tropomyosin like
      cl19511
      Location:212 → 315
      DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)

    RNA

    1. NR_130121.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) uses an alternate splice site in an internal exon and lacks an internal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC010095, AC073415
      Related
      ENST00000409529.6

    2. NR_147236.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415

    3. NR_147237.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415

    4. NR_147238.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC010095, AC073415

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      108786750..108885485
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047443558.1 → XP_047299514.1  coiled-coil domain-containing protein 138 isoform X23

    2. XM_047443542.1 → XP_047299498.1  coiled-coil domain-containing protein 138 isoform X6

    3. XM_047443553.1 → XP_047299509.1  coiled-coil domain-containing protein 138 isoform X18

    4. XM_017003492.2 → XP_016858981.1  coiled-coil domain-containing protein 138 isoform X2

    5. XM_047443559.1 → XP_047299515.1  coiled-coil domain-containing protein 138 isoform X24

    6. XM_047443543.1 → XP_047299499.1  coiled-coil domain-containing protein 138 isoform X7

    7. XM_047443554.1 → XP_047299510.1  coiled-coil domain-containing protein 138 isoform X19

    8. XM_047443551.1 → XP_047299507.1  coiled-coil domain-containing protein 138 isoform X16

    9. XM_047443549.1 → XP_047299505.1  coiled-coil domain-containing protein 138 isoform X14

    10. XM_047443547.1 → XP_047299503.1  coiled-coil domain-containing protein 138 isoform X12

    11. XM_017003493.3 → XP_016858982.1  coiled-coil domain-containing protein 138 isoform X8

    12. XM_047443555.1 → XP_047299511.1  coiled-coil domain-containing protein 138 isoform X20

    13. XM_047443540.1 → XP_047299496.1  coiled-coil domain-containing protein 138 isoform X3

    14. XM_047443550.1 → XP_047299506.1  coiled-coil domain-containing protein 138 isoform X15

    15. XM_047443544.1 → XP_047299500.1  coiled-coil domain-containing protein 138 isoform X9

    16. XM_011510761.3 → XP_011509063.1  coiled-coil domain-containing protein 138 isoform X10

      Conserved Domains (2) summary
      pfam12718
      Location:219 → 326
      Tropomyosin_1; Tropomyosin like
      cl19511
      Location:218 → 321
      DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)

    17. XM_017003498.2 → XP_016858987.1  coiled-coil domain-containing protein 138 isoform X22

    18. XM_011510760.3 → XP_011509062.1  coiled-coil domain-containing protein 138 isoform X4

      Conserved Domains (3) summary
      pfam12718
      Location:219 → 326
      Tropomyosin_1; Tropomyosin like
      cl19252
      Location:256 → 475
      MreC; rod shape-determining protein MreC
      cl19511
      Location:218 → 321
      DUF2317; Uncharacterized protein conserved in bacteria (DUF2317)

    19. XM_047443552.1 → XP_047299508.1  coiled-coil domain-containing protein 138 isoform X17

    20. XM_047443548.1 → XP_047299504.1  coiled-coil domain-containing protein 138 isoform X13

    21. XM_011510757.3 → XP_011509059.1  coiled-coil domain-containing protein 138 isoform X1

      Conserved Domains (2) summary
      pfam12718
      Location:219 → 325
      Tropomyosin_1; Tropomyosin like
      cl19252
      Location:235 → 364
      MreC; rod shape-determining protein MreC

    22. XM_047443545.1 → XP_047299501.1  coiled-coil domain-containing protein 138 isoform X11

    23. XM_047443541.1 → XP_047299497.1  coiled-coil domain-containing protein 138 isoform X5

    24. XM_047443560.1 → XP_047299516.1  coiled-coil domain-containing protein 138 isoform X25

    25. XM_047443556.1 → XP_047299512.1  coiled-coil domain-containing protein 138 isoform X21

    26. XM_047443561.1 → XP_047299517.1  coiled-coil domain-containing protein 138 isoform X26

    RNA

    1. XR_007069665.1 RNA Sequence

    2. XR_007069664.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      109247356..109346048
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054340845.1 → XP_054196820.1  coiled-coil domain-containing protein 138 isoform X23

    2. XM_054340828.1 → XP_054196803.1  coiled-coil domain-containing protein 138 isoform X6

    3. XM_054340840.1 → XP_054196815.1  coiled-coil domain-containing protein 138 isoform X18

    4. XM_054340824.1 → XP_054196799.1  coiled-coil domain-containing protein 138 isoform X2

    5. XM_054340846.1 → XP_054196821.1  coiled-coil domain-containing protein 138 isoform X24

    6. XM_054340829.1 → XP_054196804.1  coiled-coil domain-containing protein 138 isoform X7

    7. XM_054340841.1 → XP_054196816.1  coiled-coil domain-containing protein 138 isoform X19

    8. XM_054340838.1 → XP_054196813.1  coiled-coil domain-containing protein 138 isoform X16

    9. XM_054340836.1 → XP_054196811.1  coiled-coil domain-containing protein 138 isoform X14

    10. XM_054340834.1 → XP_054196809.1  coiled-coil domain-containing protein 138 isoform X12

    11. XM_054340830.1 → XP_054196805.1  coiled-coil domain-containing protein 138 isoform X8

    12. XM_054340842.1 → XP_054196817.1  coiled-coil domain-containing protein 138 isoform X20

    13. XM_054340825.1 → XP_054196800.1  coiled-coil domain-containing protein 138 isoform X3

    14. XM_054340837.1 → XP_054196812.1  coiled-coil domain-containing protein 138 isoform X15

    15. XM_054340831.1 → XP_054196806.1  coiled-coil domain-containing protein 138 isoform X9

    16. XM_054340832.1 → XP_054196807.1  coiled-coil domain-containing protein 138 isoform X10

    17. XM_054340844.1 → XP_054196819.1  coiled-coil domain-containing protein 138 isoform X22

    18. XM_054340826.1 → XP_054196801.1  coiled-coil domain-containing protein 138 isoform X4

    19. XM_054340839.1 → XP_054196814.1  coiled-coil domain-containing protein 138 isoform X17

    20. XM_054340835.1 → XP_054196810.1  coiled-coil domain-containing protein 138 isoform X13

    21. XM_054340823.1 → XP_054196798.1  coiled-coil domain-containing protein 138 isoform X1

    22. XM_054340833.1 → XP_054196808.1  coiled-coil domain-containing protein 138 isoform X11

    23. XM_054340827.1 → XP_054196802.1  coiled-coil domain-containing protein 138 isoform X5

    24. XM_054340847.1 → XP_054196822.1  coiled-coil domain-containing protein 138 isoform X25

    25. XM_054340843.1 → XP_054196818.1  coiled-coil domain-containing protein 138 isoform X21

    26. XM_054340848.1 → XP_054196823.1  coiled-coil domain-containing protein 138 isoform X26

    RNA

    1. XR_008486298.1 RNA Sequence

    2. XR_008486297.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96M89.1 GenPept UniProtKB/Swiss-Prot:Q96M89

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