U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 120935, updated on 5-Aug-2022

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 AllianceGenome:HGNC:26843
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 centrosome. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward testis (RPKM 5.9) See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See CCDC38 in Genome Data Viewer
Location:
12q23.1
Exon count:
18
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (95867048..95943233, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (95843468..95919184, complement)
105.20220307 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

EBI GWAS Catalog

Description
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
EBI GWAS Catalog
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
EBI GWAS Catalog
Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
EBI GWAS Catalog

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)

NEW Try the new Transcript table

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, Q8N835
    Related
    ENSP00000345470.3, ENST00000344280.8
    Conserved Domains (1) summary
    pfam13863
    Location:112230
    DUF4200; Domain of unknown function (DUF4200)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    95867048..95943233 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537883.3XP_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, Q8N835
    Conserved Domains (1) summary
    pfam13863
    Location:112230
    DUF4200; Domain of unknown function (DUF4200)
  2. XM_047428281.1XP_047284237.1  coiled-coil domain-containing protein 38 isoform X2

  3. XM_011537888.4XP_011536190.1  coiled-coil domain-containing protein 38 isoform X3

  4. XM_011537889.2XP_011536191.1  coiled-coil domain-containing protein 38 isoform X4

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    95843468..95919184 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)