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

Gene ID: 440184, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (66486371..66498553)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (60693356..60705539)
105.20220307 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

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)

Genotypes

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_2023_10

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

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

    UniProtKB/TrEMBL
    A0A1B0GV15
    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

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

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

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

    UniProtKB/TrEMBL
    A0A286YEX8

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

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

  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

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

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

  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

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

    UniProtKB/TrEMBL
    A0A1B0GV15

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

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

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

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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