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CCDC58 coiled-coil domain containing 58 [ Homo sapiens (human) ]

Gene ID: 131076, updated on 1-Jun-2020

Summary

Official Symbol
CCDC58provided by HGNC
Official Full Name
coiled-coil domain containing 58provided by HGNC
Primary source
HGNC:HGNC:31136
See related
Ensembl:ENSG00000160124
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
Ubiquitous expression in kidney (RPKM 9.4), colon (RPKM 7.2) and 25 other tissues See more
Orthologs

Genomic context

See CCDC58 in Genome Data Viewer
Location:
3q21.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (122359587..122383231, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (122078436..122102074, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 23 Neighboring gene cystatin A Neighboring gene HNF4 motif-containing MPRA enhancer 1/2 Neighboring gene family with sequence similarity 162 member A Neighboring gene uncharacterized LOC102723582 Neighboring gene WD repeat domain 5B Neighboring gene karyopherin subunit alpha 1

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

NHGRI GWAS Catalog

Description
Common genetic variants associate with serum phosphorus concentration.
NHGRI GWA Catalog
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ33273

General protein information

Preferred Names
coiled-coil domain-containing protein 58

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_001017928.4NP_001017928.1  coiled-coil domain-containing protein 58 isoform 1

    See identical proteins and their annotated locations for NP_001017928.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    AC083798, BC109378, CD683826
    Consensus CDS
    CCDS33838.1
    UniProtKB/Swiss-Prot
    Q4VC31
    Related
    ENSP00000291458.5, ENST00000291458.9
    Conserved Domains (1) summary
    pfam09774
    Location:10134
    Cid2; Caffeine-induced death protein 2
  2. NM_001308326.1NP_001295255.1  coiled-coil domain-containing protein 58 isoform 2

    See identical proteins and their annotated locations for NP_001295255.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' terminal exon and uses an alternate start codon, compared to variant 1. It encodes isoform 2 which has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC083798, BC109378, CD683826, DA025111
    Consensus CDS
    CCDS77802.1
    UniProtKB/Swiss-Prot
    Q4VC31
    UniProtKB/TrEMBL
    C9JQ41
    Related
    ENSP00000420248.1, ENST00000479899.5
    Conserved Domains (1) summary
    pfam09774
    Location:4120
    Cid2; Caffeine-induced death protein 2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    122359587..122383231 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512410.2XP_011510712.1  coiled-coil domain-containing protein 58 isoform X1

    See identical proteins and their annotated locations for XP_011510712.1

    Related
    ENSP00000418810.1, ENST00000479414.1
    Conserved Domains (1) summary
    pfam09774
    Location:1124
    Cid2; Caffeine-induced death protein 2
  2. XM_017005697.2XP_016861186.1  coiled-coil domain-containing protein 58 isoform X2

RNA

  1. XR_924096.3 RNA Sequence

  2. XR_924097.2 RNA Sequence

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