CRELD2 (CRELD disulfide isomerase 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 79174
Gene name CRELD disulfide isomerase 2
Gene symbol CRELD2
Synonyms (NCBI Gene)
-
Chromosome 22
Chromosome location 22q13.33
miRNA miRNA information provided by mirtarbase database.
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT023504 hsa-miR-1-3p Microarray 18668037
MIRT048889 hsa-miR-93-5p CLASH 23622248
MIRT1969582 hsa-miR-4511 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
7
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
GO ID Ontology Definition Evidence Reference
GO:0003756 Function Protein disulfide isomerase activity IEA
GO:0005509 Function Calcium ion binding IEA
GO:0005515 Function Protein binding IPI 16238698, 21988832, 32814053
GO:0005615 Component Extracellular space IEA
GO:0005783 Component Endoplasmic reticulum 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
607171 28150 ENSG00000184164
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.
Q6UXH1
Protein name Protein disulfide isomerase CRELD2 (EC 5.3.4.1) (Cysteine-rich with EGF-like domain protein 2)
Protein function Protein disulfide isomerase (By similarity). Might play a role in the unfolded protein response (By similarity). May regulate transport of alpha4-beta2 neuronal acetylcholine receptor (PubMed:16238698). {ECO:0000250|UniProtKB:Q9CYA0, ECO:0000269
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07645 EGF_CA 230 → 288 Calcium-binding EGF domain Domain
PF07645 EGF_CA 290 → 330 Calcium-binding EGF domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:16238698). Highly expressed in skeletal muscle, heart, liver, kidney and placenta (PubMed:16238698). {ECO:0000269|PubMed:16238698, ECO:0000269|PubMed:16919896}.
Sequence 
MRLPRRAALGLLPLLLLLPPAPEAAKKPTPCHRCRGLVDKFNQGMVDTAKKNFGGGNTAW
EEKTLSKYESSEIRLLEILEGLCESSDFECNQMLEAQEEHLEAWWLQLKSEYPDLFEWFC
VKTLKVCCSPGTYGPDCLACQGGSQRPCSGNGHCSGDGSRQGDGSCRCHMGYQGPLCTDC
MDGYFSSLRNETHSICTACDESCKTCSGLTNRDCGECEVGWVLDEGACVDVDECAAEPPP
CSAAQFCKNANGSYTCEECDSSCVGCTGEGPGNCKECISGYAREHGQCADVDECSLAEKT
CVRKNENCYNTPGSYVCVCPDGFEETEDACVPPAEAEATEGESPTQLPSREDL
Sequence length 353
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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 (4)
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
CANNABIS DEPENDENCE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (3)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Endometrial Neoplasms Associate 36899615
★★★★★
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 39869369
★★★★★
★☆☆☆☆
Found in Text Mining only
Renal Insufficiency Associate 34582968
★★★★★
★☆☆☆☆
Found in Text Mining only