RESP18 (regulated endocrine specific protein 18)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 389075
Gene name Regulated endocrine specific protein 18
Gene symbol RESP18
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2q35
miRNA miRNA information provided by mirtarbase database.
8
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (8)
miRTarBase ID miRNA Experiments Reference
MIRT2314237 hsa-miR-1207-5p CLIP-seq
MIRT2314238 hsa-miR-1321 CLIP-seq
MIRT2314239 hsa-miR-4270 CLIP-seq
MIRT2314240 hsa-miR-4441 CLIP-seq
MIRT2314241 hsa-miR-4739 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
4
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IBA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005794 Component Golgi apparatus IEA
GO:0031410 Component Cytoplasmic vesicle IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
612721 33762 ENSG00000182698
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5W5W9
Protein name Regulated endocrine-specific protein 18
Protein function May play an important regulatory role in corticotrophs.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14948 RESP18 79 → 170 RESP18 domain Family
Tissue specificity TISSUE SPECIFICITY: Pancreas. Found in alpha, beta and delta cells in the pancreatic islets. {ECO:0000269|PubMed:17951542}.
Sequence 
MAVDVEFGVAGWWEAAAPLSPSAVAATFTETWPGSERAEPGRIQHPLWPGSSEGLQLLVC
FLLLNSCPGGCSDTSAHDGQDQVGVGQLWPLQGFATPVFQHLQVVLQQIIPQGLFWKDDI
TQDAMIQKMEHASRLHPQEPCLKDGKALFPTKTTESPLAKVNRDQCFTSEVVSKALKQEV
ANPVKITYRCSYGGLDMMQAPGPSKEEIIYKIMRLLWATSYCGPQPCG
Sequence length 228
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
METABOLIC SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations