CCDC174 coiled-coil domain containing 174

Gene ID: 51244, updated on 19-Sep-2024
Gene type: protein coding
Also known as: IHPM; ctr1; IHPMR; C3orf19; HSPC212

Summary

The protein encoded by this gene is found in the nucleus, where it interacts with eukaryotic translation initiation factor 4A, isoform 3. The encoded protein appears to be a part of the exon junction complex, which is involved in RNA processing, translation, and nonsense-mediated mRNA decay. A mutation in this gene has been associated with infantile hypotonia with psychomotor retardation. [provided by RefSeq, Mar 2016]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome MedGen: C4225196OMIM: 616816GeneReviews: Not available	not available

Genomic context

Location:: 3p25.1

Sequence:: Chromosome: 3; NC_000003.12 (14651762..14672655)

Total number of exons:: 12

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for CCDC174 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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