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

Gene ID: 79635, updated on 22-Aug-2020

Summary

Official Symbol
CCDC121provided by HGNC
Official Full Name
coiled-coil domain containing 121provided by HGNC
Primary source
HGNC:HGNC:25833
See related
Ensembl:ENSG00000176714
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

Genomic context

See CCDC121 in Genome Data Viewer
Location:
2p23.3
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (27625638..27629012, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (27848408..27851898, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 16 Neighboring gene zinc finger protein 512 Neighboring gene GPN-loop GTPase 1 Neighboring gene SPT7 like, STAGA complex subunit gamma Neighboring gene solute carrier family 4 member 1 adaptor protein Neighboring gene long intergenic non-protein coding RNA 1460

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ13646, FLJ43364

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 

General protein information

Preferred Names
coiled-coil domain-containing protein 121

NCBI Reference Sequences (RefSeq)

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_001142683.3NP_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:197402
    DUF4515; Domain of unknown function (DUF4515)
  2. NM_024584.5NP_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
    Q6ZUS5
    Related
    ENSP00000339087.2, ENST00000324364.3
    Conserved Domains (1) summary
    pfam14988
    Location:35240
    DUF4515; Domain of unknown function (DUF4515)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005264560.4XP_005264617.1  coiled-coil domain-containing protein 121 isoform X1

    Conserved Domains (1) summary
    pfam14988
    Location:199404
    DUF4515; Domain of unknown function (DUF4515)

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.
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