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CCDC38 coiled-coil domain containing 38 [ Homo sapiens (human) ]

Gene ID: 120935, updated on 23-Nov-2021

Summary

Official Symbol
CCDC38provided by HGNC
Official Full Name
coiled-coil domain containing 38provided by HGNC
Primary source
HGNC:HGNC:26843
See related
Ensembl:ENSG00000165972
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
Restricted expression toward testis (RPKM 5.9) See more
Orthologs
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Genomic context

See CCDC38 in Genome Data Viewer
Location:
12q23.1
Exon count:
19
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (95867048..95943301, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (96260826..96336392, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene SNRPF divergent transcript Neighboring gene long intergenic non-protein coding RNA 2410 Neighboring gene small nuclear ribonucleoprotein polypeptide F Neighboring gene amidohydrolase domain containing 1 Neighboring gene AMDHD1 eExon liver enhancer Neighboring gene histidine ammonia-lyase

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

Bibliography

Phenotypes

Associated conditions

Description Tests
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
GeneReviews: Not available
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
GeneReviews: Not available
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ40089

Gene Ontology Provided by GOA

Component Evidence Code Pubs
is_active_in centrosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
coiled-coil domain-containing protein 38

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_182496.3NP_872302.2  coiled-coil domain-containing protein 38

    See identical proteins and their annotated locations for NP_872302.2

    Status: VALIDATED

    Source sequence(s)
    AK097408, BC095479
    Consensus CDS
    CCDS9056.1
    UniProtKB/Swiss-Prot
    Q502W7
    Related
    ENSP00000345470.3, ENST00000344280.8
    Conserved Domains (1) summary
    pfam13863
    Location:112230
    DUF4200; Domain of unknown function (DUF4200)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    95867048..95943301 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537883.2XP_011536185.1  coiled-coil domain-containing protein 38 isoform X1

    See identical proteins and their annotated locations for XP_011536185.1

    UniProtKB/Swiss-Prot
    Q502W7
    Conserved Domains (1) summary
    pfam13863
    Location:112230
    DUF4200; Domain of unknown function (DUF4200)
  2. XM_011537886.2XP_011536188.1  coiled-coil domain-containing protein 38 isoform X2

    See identical proteins and their annotated locations for XP_011536188.1

    Conserved Domains (1) summary
    pfam13863
    Location:72190
    DUF4200; Domain of unknown function (DUF4200)
  3. XM_011537887.2XP_011536189.1  coiled-coil domain-containing protein 38 isoform X2

    See identical proteins and their annotated locations for XP_011536189.1

    Conserved Domains (1) summary
    pfam13863
    Location:72190
    DUF4200; Domain of unknown function (DUF4200)
  4. XM_011537884.2XP_011536186.1  coiled-coil domain-containing protein 38 isoform X2

    See identical proteins and their annotated locations for XP_011536186.1

    Conserved Domains (1) summary
    pfam13863
    Location:72190
    DUF4200; Domain of unknown function (DUF4200)
  5. XM_006719229.2XP_006719292.1  coiled-coil domain-containing protein 38 isoform X3

    Conserved Domains (1) summary
    pfam13863
    Location:1466
    DUF4200; Domain of unknown function (DUF4200)
  6. XM_011537888.3XP_011536190.1  coiled-coil domain-containing protein 38 isoform X4

  7. XM_011537889.1XP_011536191.1  coiled-coil domain-containing protein 38 isoform X5

    Conserved Domains (1) summary
    pfam13863
    Location:112230
    DUF4200; Domain of unknown function (DUF4200)
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