CREB3L4 cAMP responsive element binding protein 3 like 4

Gene ID: 148327, updated on 2-Nov-2024
Gene type: protein coding
Also known as: JAL; hJAL; ATCE1; CREB3; CREB4; AIBZIP

Summary

This gene encodes a CREB (cAMP responsive element binding) protein with a transmembrane domain which localizes it to the ER membrane. The encoded protein is a transcriptional activator which contains a dimerization domain, and this protein may function in a number of processing pathways including protein processing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Genome-wide association identifies genetic variants associated with lentiform nucleus volume in N&#x02009;=&#x02009;1345 young and elderly subjects. GeneReviews: Not available

Genomic context

Location:: 1q21.3

Sequence:: Chromosome: 1; NC_000001.11 (153967487..153974359)

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 CREB3L4 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
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
Variation Viewer
Related Variants

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.