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CCDC168 coiled-coil domain containing 168 [ Homo sapiens (human) ]

Gene ID: 643677, updated on 2-Nov-2024

Summary

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Official Symbol
CCDC168provided by HGNC
Official Full Name
coiled-coil domain containing 168provided by HGNC
Primary source
HGNC:HGNC:26851
See related
Ensembl:ENSG00000175820 AllianceGenome:HGNC:26851
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
C13orf40
Summary
Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Restricted expression toward testis (RPKM 2.6) See more
Orthologs
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Genomic context

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See CCDC168 in Genome Data Viewer
Location:
13q33.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (102729367..102759072, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (101947434..101977110, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (103381717..103411422, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene methyltransferase 21C, AARS1 lysine Neighboring gene ReSE screen-validated silencer GRCh37_chr13:103368105-103368334 Neighboring gene small nucleolar RNA U13 Neighboring gene ReSE screen-validated silencer GRCh37_chr13:103407292-103407513 Neighboring gene uncharacterized LOC105370337 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:103425891-103426568 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:103426569-103427246 Neighboring gene testis expressed 30 Neighboring gene protein O-glucosyltransferase 2

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 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. The design of coiled-coil structures and assemblies. Woolfson DN. Adv Protein Chem, 2005. PMID 15837514
  2. Coiled coils: a highly versatile protein folding motif. Burkhard P, et al. Trends Cell Biol, 2001 Feb. PMID 11166216
  3. Proteomic profiling of the TRAF3 interactome network reveals a new role for the ER-to-Golgi transport compartments in innate immunity. van Zuylen WJ, et al. PLoS Pathog, 2012. PMID 22792062, Free PMC Article
  4. An improved smaller biotin ligase for BioID proximity labeling. Kim DI, et al. Mol Biol Cell, 2016 Apr 15. PMID 26912792, 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 (15) 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)

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

  • FLJ40176, FLJ43996, DKFZp434L2319, DKFZp686P1429

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
leucine-rich repeat transmembrane protein CCDC168
Names
coiled-coil domain-containing protein 168

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.

Genomic

  1. NG_053191.1 RefSeqGene

    Range
    5001..34706
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001146197.3 → NP_001139669.1  leucine-rich repeat transmembrane protein CCDC168

    Status: VALIDATED

    Source sequence(s)
    AL157769, AL833908
    Consensus CDS
    CCDS73596.1
    UniProtKB/Swiss-Prot
    Q8N800, Q8NDH2
    Related
    ENSP00000320232.3, ENST00000322527.4
    Conserved Domains (1) summary
    pfam15804
    Location:4631 → 4835
    CCDC168_N; Coiled-coil domain-containing protein 168

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_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    102729367..102759072 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521106.2 → XP_011519408.1  leucine-rich repeat transmembrane protein CCDC168 isoform X1

    Conserved Domains (1) summary
    pfam15804
    Location:4591 → 4795
    CCDC168_N; Coiled-coil domain-containing protein 168

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    101947434..101977110 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374860.1 → XP_054230835.1  leucine-rich repeat transmembrane protein CCDC168 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NDH2.3 GenPept UniProtKB/Swiss-Prot:Q8NDH2

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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