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CCDC126 coiled-coil domain containing 126 [ Homo sapiens (human) ]

Gene ID: 90693, updated on 2-Nov-2024

Summary

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Official Symbol
CCDC126provided by HGNC
Official Full Name
coiled-coil domain containing 126provided by HGNC
Primary source
HGNC:HGNC:22398
See related
Ensembl:ENSG00000169193 AllianceGenome:HGNC:22398
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
Summary
Located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 9.1), thyroid (RPKM 4.5) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See CCDC126 in Genome Data Viewer
Location:
7p15.3
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (23597382..23644708)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (23736740..23784002)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (23637001..23684327)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375187 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25738 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18014 Neighboring gene CDC like kinase 2, pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:23645851-23645985 Neighboring gene FCF1 pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:23694754-23695254 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18015 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25739 Neighboring gene family with sequence similarity 221 member A Neighboring gene serine/threonine kinase 31 Neighboring gene protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 pseudogene 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 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. Novel eye genes systematically discovered through an integrated analysis of mouse transcriptomes and phenome. Chiang CY, et al. Comput Struct Biotechnol J, 2020. PMID 31934309, Free PMC Article
  2. Development and application of a DNA microarray-based yeast two-hybrid system. Suter B, et al. Nucleic Acids Res, 2013 Feb 1. PMID 23275563, Free PMC Article
  3. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
  4. Global mapping of herpesvirus-host protein complexes reveals a transcription strategy for late genes. Davis ZH, et al. Mol Cell, 2015 Jan 22. PMID 25544563, Free PMC Article
  5. Toward a complete human genome sequence. Sanger Center, et al. Genome Res, 1998 Nov. PMID 9847074

See all (11) 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

  • FLJ23031, MGC104248

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 

General protein information

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Preferred Names
coiled-coil domain-containing protein 126

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_138771.4 → NP_620126.2  coiled-coil domain-containing protein 126 precursor

    See identical proteins and their annotated locations for NP_620126.2

    Status: VALIDATED

    Source sequence(s)
    AC006026, AL598772, AY358713
    Consensus CDS
    CCDS5384.1
    UniProtKB/Swiss-Prot
    A8K1J6, Q6UWP1, Q75MQ6, Q96EE4
    Related
    ENSP00000304355.3, ENST00000307471.8
    Conserved Domains (1) summary
    pfam15027
    Location:3 → 137
    DUF4525; Domain of unknown function (DUF4525)

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    23597382..23644708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012775.3 → XP_016868264.1  coiled-coil domain-containing protein 126 isoform X1

    UniProtKB/Swiss-Prot
    A8K1J6, Q6UWP1, Q75MQ6, Q96EE4
    Related
    ENSP00000386355.1, ENST00000410069.1
    Conserved Domains (1) summary
    pfam15027
    Location:3 → 137
    DUF4525; Domain of unknown function (DUF4525)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    23736740..23784002
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054359304.1 → XP_054215279.1  coiled-coil domain-containing protein 126 isoform X1

    UniProtKB/Swiss-Prot
    A8K1J6, Q6UWP1, Q75MQ6, Q96EE4
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96EE4.2 GenPept UniProtKB/Swiss-Prot:Q96EE4

Gene LinkOut

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

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