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    CCDC196 coiled-coil domain containing 196 [ Homo sapiens (human) ]

    Gene ID: 440184, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCDC196provided by HGNC
    Official Full Name
    coiled-coil domain containing 196provided by HGNC
    Primary source
    HGNC:HGNC:20100
    See related
    Ensembl:ENSG00000196553 AllianceGenome:HGNC:20100
    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
    C14orf53; LINC00238; NCRNA00238
    Expression
    Restricted expression toward testis (RPKM 34.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC196 in Genome Data Viewer
    Location:
    14q23.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (66486371..66498553)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (60693356..60705539)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (66953089..66965271)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr14:66481099-66482298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:66559679-66560179 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35366 Neighboring gene MPRA-validated peak2176 silencer Neighboring gene Y-box binding protein 1 pseudogene 1 Neighboring gene long intergenic non-protein coding RNA 2290 Neighboring gene MPRA-validated peak2177 silencer Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_35463 and experimental_35465 Neighboring gene Sharpr-MPRA regulatory region 5211 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35483 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35504 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35506 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5853 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8568 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8569 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8571 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8574 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35749 Neighboring gene gephyrin Neighboring gene MPRA-validated peak2180 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_35767 Neighboring gene uncharacterized LOC124903332 Neighboring gene probable ribosome biogenesis protein RLP24

    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. LINC00238 inhibits hepatic carcinoma progression by activating TMEM106C‑mediated apoptosis pathway. Jiang C, et al. Mol Med Rep, 2021 Nov. PMID 34476506, Free PMC Article
    2. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    3. A reference map of the human binary protein interactome. Luck K, et al. Nature, 2020 Apr. PMID 32296183, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Cell fixation improves performance of in situ crosslinking mass spectrometry while preserving cellular ultrastructure. Michael ARM, et al. Nat Commun, 2024 Oct 2. PMID 39358380, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. LINC00238 inhibits hepatic carcinoma progression by activating TMEM106Cmediated apoptosis pathway.
      Title: LINC00238 inhibits hepatic carcinoma progression by activating TMEM106C‑mediated apoptosis pathway.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC88374

    General protein information

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    Preferred Names
    putative coiled-coil domain-containing protein 196
    Names
    long intergenic non-protein coding RNA 238

    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_001351576.1 → NP_001338505.1  putative coiled-coil domain-containing protein 196

      Status: VALIDATED

      Source sequence(s)
      AL355093
      Consensus CDS
      CCDS86402.1
      UniProtKB/Swiss-Prot
      A0A1B0GTZ2
      UniProtKB/TrEMBL
      A0A286YFE0
      Related
      ENSP00000489898.1, ENST00000636229.1
      Conserved Domains (1) summary
      cl26511
      Location:27 → 216
      Neuromodulin_N; Gap junction protein N-terminal region

    RNA

    1. NR_024338.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BC033546, BC056671, BC070365
      Related
      ENST00000411796.6

    2. NR_110307.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BC033546, BC056671, BI829888

    3. NR_110308.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      BC033546, BC056671
      Related
      ENST00000359454.10

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      66486371..66498553
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449601.2 → XP_024305369.1  putative coiled-coil domain-containing protein 196 isoform X1

      UniProtKB/TrEMBL
      A0A286YFE0
      Conserved Domains (1) summary
      cl26252
      Location:26 → 127
      AAA_13; AAA domain

    2. XM_024449602.2 → XP_024305370.1  putative coiled-coil domain-containing protein 196 isoform X1

      UniProtKB/TrEMBL
      A0A286YFE0
      Conserved Domains (1) summary
      cl26252
      Location:26 → 127
      AAA_13; AAA domain

    3. XM_024449600.2 → XP_024305368.1  putative coiled-coil domain-containing protein 196 isoform X1

      UniProtKB/TrEMBL
      A0A286YFE0
      Conserved Domains (1) summary
      cl26252
      Location:26 → 127
      AAA_13; AAA domain

    4. XM_024449605.2 → XP_024305373.1  putative coiled-coil domain-containing protein 196 isoform X3

      UniProtKB/TrEMBL
      A0A286YEX8, A0A286YFE0
      Related
      ENSP00000493058.1, ENST00000641713.1
      Conserved Domains (1) summary
      cl26252
      Location:26 → 127
      AAA_13; AAA domain

    5. XM_024449604.2 → XP_024305372.1  putative coiled-coil domain-containing protein 196 isoform X2

      UniProtKB/TrEMBL
      A0A286YFE0
      Conserved Domains (2) summary
      cl25602
      Location:24 → 112
      DUF3552; Domain of unknown function (DUF3552)
      cl26511
      Location:27 → 216
      Neuromodulin_N; Gap junction protein N-terminal region

    6. XM_024449608.2 → XP_024305376.1  putative coiled-coil domain-containing protein 196 isoform X6

      UniProtKB/TrEMBL
      A0A1B0GWI1
      Conserved Domains (1) summary
      cl26252
      Location:26 → 198
      AAA_13; AAA domain

    7. XM_024449613.2 → XP_024305381.1  putative coiled-coil domain-containing protein 196 isoform X10

      Conserved Domains (1) summary
      cl25602
      Location:24 → 112
      DUF3552; Domain of unknown function (DUF3552)

    8. XM_024449614.2 → XP_024305382.1  putative coiled-coil domain-containing protein 196 isoform X11

      Conserved Domains (1) summary
      cl25602
      Location:24 → 112
      DUF3552; Domain of unknown function (DUF3552)

    9. XM_024449606.2 → XP_024305374.1  putative coiled-coil domain-containing protein 196 isoform X4

      UniProtKB/TrEMBL
      A0A286YFE0
      Conserved Domains (1) summary
      cl26511
      Location:26 → 199
      Neuromodulin_N; Gap junction protein N-terminal region

    10. XM_024449607.2 → XP_024305375.1  putative coiled-coil domain-containing protein 196 isoform X5

      UniProtKB/TrEMBL
      A0A286YFE0
      Conserved Domains (1) summary
      cl26511
      Location:26 → 199
      Neuromodulin_N; Gap junction protein N-terminal region

    11. XM_024449609.2 → XP_024305377.1  putative coiled-coil domain-containing protein 196 isoform X7

      UniProtKB/TrEMBL
      A0A1B0GWI1

    12. XM_047431416.1 → XP_047287372.1  putative coiled-coil domain-containing protein 196 isoform X12

    13. XM_047431417.1 → XP_047287373.1  putative coiled-coil domain-containing protein 196 isoform X13

    14. XM_047431414.1 → XP_047287370.1  putative coiled-coil domain-containing protein 196 isoform X1

      UniProtKB/TrEMBL
      A0A286YFE0

    15. XM_047431415.1 → XP_047287371.1  putative coiled-coil domain-containing protein 196 isoform X8

      UniProtKB/TrEMBL
      A0A1B0GV15, A0A1B0GW51
      Related
      ENSP00000490335.1, ENST00000389594.7

    16. XM_024449617.2 → XP_024305385.1  putative coiled-coil domain-containing protein 196 isoform X15

      UniProtKB/TrEMBL
      A0A1B0GW51
      Conserved Domains (1) summary
      cl25602
      Location:24 → 112
      DUF3552; Domain of unknown function (DUF3552)

    17. XM_024449615.2 → XP_024305383.1  putative coiled-coil domain-containing protein 196 isoform X14

      UniProtKB/TrEMBL
      A0A1B0GW51
      Conserved Domains (1) summary
      cl26252
      Location:26 → 127
      AAA_13; AAA domain

    18. XM_024449612.1 → XP_024305380.1  putative coiled-coil domain-containing protein 196 isoform X9

      UniProtKB/TrEMBL
      A0A1B0GTP3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      60693356..60705539
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054376124.1 → XP_054232099.1  putative coiled-coil domain-containing protein 196 isoform X1

      UniProtKB/TrEMBL
      A0A286YFE0

    2. XM_054376125.1 → XP_054232100.1  putative coiled-coil domain-containing protein 196 isoform X1

      UniProtKB/TrEMBL
      A0A286YFE0

    3. XM_054376123.1 → XP_054232098.1  putative coiled-coil domain-containing protein 196 isoform X1

      UniProtKB/TrEMBL
      A0A286YFE0

    4. XM_054376128.1 → XP_054232103.1  putative coiled-coil domain-containing protein 196 isoform X3

      UniProtKB/TrEMBL
      A0A286YEX8, A0A286YFE0

    5. XM_054376127.1 → XP_054232102.1  putative coiled-coil domain-containing protein 196 isoform X2

      UniProtKB/TrEMBL
      A0A286YFE0

    6. XM_054376131.1 → XP_054232106.1  putative coiled-coil domain-containing protein 196 isoform X6

      UniProtKB/TrEMBL
      A0A1B0GWI1

    7. XM_054376135.1 → XP_054232110.1  putative coiled-coil domain-containing protein 196 isoform X10

    8. XM_054376136.1 → XP_054232111.1  putative coiled-coil domain-containing protein 196 isoform X11

    9. XM_054376129.1 → XP_054232104.1  putative coiled-coil domain-containing protein 196 isoform X4

      UniProtKB/TrEMBL
      A0A286YFE0

    10. XM_054376130.1 → XP_054232105.1  putative coiled-coil domain-containing protein 196 isoform X5

      UniProtKB/TrEMBL
      A0A286YFE0

    11. XM_054376132.1 → XP_054232107.1  putative coiled-coil domain-containing protein 196 isoform X7

      UniProtKB/TrEMBL
      A0A1B0GWI1

    12. XM_054376137.1 → XP_054232112.1  putative coiled-coil domain-containing protein 196 isoform X12

    13. XM_054376138.1 → XP_054232113.1  putative coiled-coil domain-containing protein 196 isoform X13

    14. XM_054376126.1 → XP_054232101.1  putative coiled-coil domain-containing protein 196 isoform X1

      UniProtKB/TrEMBL
      A0A286YFE0

    15. XM_054376133.1 → XP_054232108.1  putative coiled-coil domain-containing protein 196 isoform X8

      UniProtKB/TrEMBL
      A0A1B0GV15, A0A1B0GW51

    16. XM_054376140.1 → XP_054232115.1  putative coiled-coil domain-containing protein 196 isoform X15

      UniProtKB/TrEMBL
      A0A1B0GW51

    17. XM_054376139.1 → XP_054232114.1  putative coiled-coil domain-containing protein 196 isoform X14

      UniProtKB/TrEMBL
      A0A1B0GW51

    18. XM_054376134.1 → XP_054232109.1  putative coiled-coil domain-containing protein 196 isoform X9

      UniProtKB/TrEMBL
      A0A1B0GTP3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001004331.2: Suppressed sequence

      Description
      NM_001004331.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.

    2. NR_024339.1: Suppressed sequence

      Description
      NR_024339.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A1B0GTZ2.1 GenPept UniProtKB/Swiss-Prot:A0A1B0GTZ2

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