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CCDC121 coiled-coil domain containing 121 [ Homo sapiens (human) ]

Gene ID: 79635, updated on 27-Nov-2024

Summary

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Official Symbol
CCDC121provided by HGNC
Official Full Name
coiled-coil domain containing 121provided by HGNC
Primary source
HGNC:HGNC:25833
See related
Ensembl:ENSG00000176714 AllianceGenome:HGNC:25833
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
Expression
Broad expression in testis (RPKM 10.2), ovary (RPKM 3.8) and 22 other tissues See more
Orthologs
all
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Genomic context

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See CCDC121 in Genome Data Viewer
Location:
2p23.3
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (27625638..27629012, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (27668723..27672097, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27848505..27851879, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 4379 Neighboring gene SPATA31 subfamily H member 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27788766-27789965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15508 Neighboring gene zinc finger protein 512 Neighboring gene Sharpr-MPRA regulatory region 1109 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15509 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15510 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15511 Neighboring gene GPN-loop GTPase 1 Neighboring gene small nucleolar RNA SNORA36 family Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:27875474-27876673 Neighboring gene SPT7 like, STAGA complex subunit gamma

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. A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium. Kraja AT, et al. Diabetes, 2011 Apr. PMID 21386085, Free PMC Article
  2. A Y2H-seq approach defines the human protein methyltransferase interactome. Weimann M, et al. Nat Methods, 2013 Apr. PMID 23455924
  3. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
  4. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article
  5. Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations. Fragoza R, et al. Nat Commun, 2019 Sep 12. PMID 31515488, Free PMC Article

See all (13) 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

EBI GWAS Catalog

Description
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
EBI GWAS Catalog

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

  • FLJ13646, FLJ43364

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
coiled-coil domain-containing protein 121

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_001142683.3 → NP_001136155.1  coiled-coil domain-containing protein 121 isoform 2

    See identical proteins and their annotated locations for NP_001136155.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
    Source sequence(s)
    AC074091, AK125354, BC066936, BC066969, DB325100, DB452051
    Consensus CDS
    CCDS46247.1
    UniProtKB/Swiss-Prot
    Q6ZUS5
    Related
    ENSP00000412150.2, ENST00000394775.3
    Conserved Domains (1) summary
    pfam14988
    Location:197 → 402
    DUF4515; Domain of unknown function (DUF4515)

  2. NM_024584.5 → NP_078860.2  coiled-coil domain-containing protein 121 isoform 3

    See identical proteins and their annotated locations for NP_078860.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 2. The encoded isoform (3) is shorter than isoform 2.
    Source sequence(s)
    AC074091, AK125354, BC066936
    Consensus CDS
    CCDS1759.1
    UniProtKB/Swiss-Prot
    B3KW66, J3KQZ8, Q6ZUS5, Q9H8G6
    Related
    ENSP00000339087.2, ENST00000324364.4
    Conserved Domains (1) summary
    pfam14988
    Location:35 → 240
    DUF4515; Domain of unknown function (DUF4515)

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_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    27625638..27629012 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    27668723..27672097 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001142682.1: Suppressed sequence

    Description
    NM_001142682.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZUS5.1 GenPept UniProtKB/Swiss-Prot:Q6ZUS5

Gene LinkOut

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

Chemical Information
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