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    CCDC197 coiled-coil domain containing 197 [ Homo sapiens (human) ]

    Gene ID: 256369, updated on 10-Dec-2024

    Summary

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    Official Symbol
    CCDC197provided by HGNC
    Official Full Name
    coiled-coil domain containing 197provided by HGNC
    Primary source
    HGNC:HGNC:19860
    See related
    Ensembl:ENSG00000175699 AllianceGenome:HGNC:19860
    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
    C14orf48; c14_5713; LINC00521
    Summary
    Predicted to be located in membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward testis (RPKM 3.2) See more
    Orthologs
    all
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    Genomic context

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    See CCDC197 in Genome Data Viewer
    Location:
    14q32.12
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (93987225..94011695)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (88214540..88239010)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (94453571..94478041)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene FAM181A antisense RNA 1 Neighboring gene family with sequence similarity 181 member A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94407532-94408032 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94408033-94408533 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94420244-94421221 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94421332-94422038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94422039-94422743 Neighboring gene ankyrin repeat and SOCS box containing 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:94425411-94426610 Neighboring gene microRNA 4506 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94428828-94429328 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94429329-94429829 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94441397-94441968 Neighboring gene uncharacterized LOC107984663 Neighboring gene uncharacterized LOC124903368 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:94482885-94483384 Neighboring gene Sharpr-MPRA regulatory region 4126 Neighboring gene OTU deubiquitinase, ubiquitin aldehyde binding 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:94518750-94519679 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr14:94526511-94527710 Neighboring gene DEAD-box helicase 24 Neighboring gene interferon alpha inducible protein 27 like 1

    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. Sequence organization and matrix attachment regions of the human serine protease inhibitor gene cluster at 14q32.1. Namciu SJ, et al. Mamm Genome, 2004 Mar. PMID 15014966
    2. CFTR interactome mapping using the mammalian membrane two-hybrid high-throughput screening system. Lim SH, et al. Mol Syst Biol, 2022 Feb. PMID 35156780, Free PMC Article
    3. Assessment of community efforts to advance network-based prediction of protein-protein interactions. Wang XW, et al. Nat Commun, 2023 Mar 22. PMID 36949045, Free PMC Article
    4. Towards a proteome-scale map of the human protein-protein interaction network. Rual JF, et al. Nature, 2005 Oct 20. PMID 16189514
    5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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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    Markers

    Homology

    Clone Names

    • MGC33356, DKFZp434O1910

    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
    uncharacterized protein CCDC197
    Names
    coiled-coil domain-containing protein 197
    long intergenic non-protein coding RNA 521

    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_001351596.2 → NP_001338525.1  uncharacterized protein CCDC197 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL079302
      Consensus CDS
      CCDS86426.1
      UniProtKB/TrEMBL
      A0A1B0GUF5
      Related
      ENSP00000490086.1, ENST00000636493.2
      Conserved Domains (1) summary
      pfam13863
      Location:18 → 59
      DUF4200; Domain of unknown function (DUF4200)

    2. NM_001411045.1 → NP_001397974.1  uncharacterized protein CCDC197 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL079302
      Consensus CDS
      CCDS91922.1
      UniProtKB/TrEMBL
      A0A1W2PPK9
      Related
      ENSP00000491594.1, ENST00000640978.1

    RNA

    1. NR_024182.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA412651, AL079302, BC031252, DB446670
      Related
      ENST00000444118.5

    2. NR_024183.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA412651, AK097741, AL157489

    3. NR_024184.2 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AA412651, AK097741, BC021728
      Related
      ENST00000359253.2

    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
      93987225..94011695
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047431194.1 → XP_047287150.1  uncharacterized protein CCDC197 isoform X1

    2. XM_047431188.1 → XP_047287144.1  uncharacterized protein CCDC197 isoform X2

      UniProtKB/TrEMBL
      A0A1B0GUF5

    3. XM_047431193.1 → XP_047287149.1  uncharacterized protein CCDC197 isoform X4

    4. XM_024449525.2 → XP_024305293.1  uncharacterized protein CCDC197 isoform X2

      UniProtKB/TrEMBL
      A0A1B0GUF5
      Conserved Domains (1) summary
      pfam13863
      Location:18 → 59
      DUF4200; Domain of unknown function (DUF4200)

    5. XM_047431185.1 → XP_047287141.1  uncharacterized protein CCDC197 isoform X1

    6. XM_047431183.1 → XP_047287139.1  uncharacterized protein CCDC197 isoform X1

    7. XM_047431191.1 → XP_047287147.1  uncharacterized protein CCDC197 isoform X4

    8. XM_047431186.1 → XP_047287142.1  uncharacterized protein CCDC197 isoform X1

    9. XM_024449524.2 → XP_024305292.1  uncharacterized protein CCDC197 isoform X2

      UniProtKB/TrEMBL
      A0A1B0GUF5
      Conserved Domains (1) summary
      pfam13863
      Location:18 → 59
      DUF4200; Domain of unknown function (DUF4200)

    10. XM_047431184.1 → XP_047287140.1  uncharacterized protein CCDC197 isoform X1

    11. XM_047431189.1 → XP_047287145.1  uncharacterized protein CCDC197 isoform X2

      UniProtKB/TrEMBL
      A0A1B0GUF5

    12. XM_047431187.1 → XP_047287143.1  uncharacterized protein CCDC197 isoform X1

    13. XM_047431192.1 → XP_047287148.1  uncharacterized protein CCDC197 isoform X5

    14. XM_047431190.1 → XP_047287146.1  uncharacterized protein CCDC197 isoform X3

    15. XM_047431196.1 → XP_047287152.1  uncharacterized protein CCDC197 isoform X6

    16. XM_047431197.1 → XP_047287153.1  uncharacterized protein CCDC197 isoform X7

    RNA

    1. XR_007063999.1 RNA Sequence

    2. XR_007064000.1 RNA Sequence

    3. XR_007064001.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187601.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      1101787..1126257
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328970.1 → XP_054184945.1  uncharacterized protein CCDC197 isoform X1

    2. XM_054328964.1 → XP_054184939.1  uncharacterized protein CCDC197 isoform X2

      UniProtKB/TrEMBL
      A0A1B0GUF5

    3. XM_054328969.1 → XP_054184944.1  uncharacterized protein CCDC197 isoform X4

    4. XM_054328962.1 → XP_054184937.1  uncharacterized protein CCDC197 isoform X2

      UniProtKB/TrEMBL
      A0A1B0GUF5

    5. XM_054328959.1 → XP_054184934.1  uncharacterized protein CCDC197 isoform X1

    6. XM_054328958.1 → XP_054184933.1  uncharacterized protein CCDC197 isoform X1

    7. XM_054328965.1 → XP_054184940.1  uncharacterized protein CCDC197 isoform X2

      UniProtKB/TrEMBL
      A0A1B0GUF5

    8. XM_054328961.1 → XP_054184936.1  uncharacterized protein CCDC197 isoform X1

    9. XM_054328957.1 → XP_054184932.1  uncharacterized protein CCDC197 isoform X1

    10. XM_054328967.1 → XP_054184942.1  uncharacterized protein CCDC197 isoform X4

    11. XM_054328960.1 → XP_054184935.1  uncharacterized protein CCDC197 isoform X1

    12. XM_054328963.1 → XP_054184938.1  uncharacterized protein CCDC197 isoform X2

      UniProtKB/TrEMBL
      A0A1B0GUF5

    13. XM_054328968.1 → XP_054184943.1  uncharacterized protein CCDC197 isoform X5

    14. XM_054328966.1 → XP_054184941.1  uncharacterized protein CCDC197 isoform X3

    15. XM_054328971.1 → XP_054184946.1  uncharacterized protein CCDC197 isoform X6

    16. XM_054328972.1 → XP_054184947.1  uncharacterized protein CCDC197 isoform X7

    RNA

    1. XR_008485615.1 RNA Sequence

    2. XR_008485616.1 RNA Sequence

    3. XR_008485617.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      88214540..88239010
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375763.1 → XP_054231738.1  uncharacterized protein CCDC197 isoform X1

    2. XM_054375757.1 → XP_054231732.1  uncharacterized protein CCDC197 isoform X2

      UniProtKB/TrEMBL
      A0A1B0GUF5

    3. XM_054375762.1 → XP_054231737.1  uncharacterized protein CCDC197 isoform X4

    4. XM_054375755.1 → XP_054231730.1  uncharacterized protein CCDC197 isoform X2

      UniProtKB/TrEMBL
      A0A1B0GUF5

    5. XM_054375752.1 → XP_054231727.1  uncharacterized protein CCDC197 isoform X1

    6. XM_054375751.1 → XP_054231726.1  uncharacterized protein CCDC197 isoform X1

    7. XM_054375758.1 → XP_054231733.1  uncharacterized protein CCDC197 isoform X2

      UniProtKB/TrEMBL
      A0A1B0GUF5

    8. XM_054375754.1 → XP_054231729.1  uncharacterized protein CCDC197 isoform X1

    9. XM_054375750.1 → XP_054231725.1  uncharacterized protein CCDC197 isoform X1

    10. XM_054375760.1 → XP_054231735.1  uncharacterized protein CCDC197 isoform X4

    11. XM_054375753.1 → XP_054231728.1  uncharacterized protein CCDC197 isoform X1

    12. XM_054375756.1 → XP_054231731.1  uncharacterized protein CCDC197 isoform X2

      UniProtKB/TrEMBL
      A0A1B0GUF5

    13. XM_054375761.1 → XP_054231736.1  uncharacterized protein CCDC197 isoform X5

    14. XM_054375759.1 → XP_054231734.1  uncharacterized protein CCDC197 isoform X3

    15. XM_054375764.1 → XP_054231739.1  uncharacterized protein CCDC197 isoform X6

    16. XM_054375765.1 → XP_054231740.1  uncharacterized protein CCDC197 isoform X7

    RNA

    1. XR_008488848.1 RNA Sequence

    2. XR_008488849.1 RNA Sequence

    3. XR_008488850.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152777.2: Suppressed sequence

      Description
      NM_152777.2: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein, and the transcript is a nonsense-mediated mRNA decay (NMD) candidate.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NCU1.2 GenPept UniProtKB/Swiss-Prot:Q8NCU1

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