Gene Gene information from NCBI Gene database.
Entrez ID 23753
Gene name Stromal cell derived factor 2 like 1
Gene symbol SDF2L1
Synonyms (NCBI Gene)
-
Chromosome 22
Chromosome location 22q11.21
miRNA miRNA information provided by mirtarbase database.
41
miRTarBase ID miRNA Experiments Reference
MIRT018061 hsa-miR-335-5p Microarray 18185580
MIRT022774 hsa-miR-124-3p Microarray 18668037
MIRT047950 hsa-miR-30c-5p CLASH 23622248
MIRT1331686 hsa-miR-1224-3p CLIP-seq
MIRT1331687 hsa-miR-1224-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005783 Component Endoplasmic reticulum IDA 28597544
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005788 Component Endoplasmic reticulum lumen IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607551 10676 ENSG00000128228
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCN8
Protein name Stromal cell-derived factor 2-like protein 1 (SDF2-like protein 1) (PWP1-interacting protein 8)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02815 MIR 43 177 MIR domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed with high expression in testis, moderate expression in the pancreas, spleen, prostate, small intestine and colon. Very low expression is seen in brain and skeletal muscle. {ECO:0000269|PubMed:11162531}.
Sequence
Sequence length 221
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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)
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN DISEASE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 19513569 Associate
★☆☆☆☆
Found in Text Mining only
Fatty Liver Fatty Liver BEFREE 30814508
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of prostate Prostate cancer CTD_human_DG 17013881
★☆☆☆☆
Found in Text Mining only
Miscarriage Miscarriage CTD_human_DG 18539642
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal Carcinoma Nasopharyngeal carcinoma Pubtator 33134371 Associate
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic Neoplasms CTD_human_DG 17013881
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis Rheumatoid arthritis GWASCAT_DG 30891314
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Schizophrenia Schizophrenia BEFREE 12679234, 20414250
★☆☆☆☆
Found in Text Mining only
Steatohepatitis Fatty Liver BEFREE 30814508
★☆☆☆☆
Found in Text Mining only