Gene Gene information from NCBI Gene database.
Entrez ID 83699
Gene name SH3 domain binding glutamate rich protein like 2
Gene symbol SH3BGRL2
Synonyms (NCBI Gene)
-
Chromosome 6
Chromosome location 6q14.1
miRNA miRNA information provided by mirtarbase database.
210
miRTarBase ID miRNA Experiments Reference
MIRT044871 hsa-miR-195-5p CLASH 23622248
MIRT1344413 hsa-miR-128 CLIP-seq
MIRT1344414 hsa-miR-1287 CLIP-seq
MIRT1344415 hsa-miR-190 CLIP-seq
MIRT1344416 hsa-miR-190b CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
GO:0017124 Function SH3 domain binding IEA
GO:0031965 Component Nuclear membrane IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615678 15567 ENSG00000198478
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UJC5
Protein name SH3 domain-binding glutamic acid-rich-like protein 2 (Fovea-associated SH3 domain-binding protein)
PDB 2CT6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04908 SH3BGR 1 98 SH3-binding, glutamic acid-rich protein Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, placenta, liver and kidney. Expressed in retina. {ECO:0000269|PubMed:12095696}.
Sequence
Sequence length 107
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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
ARTHRITIS, JUVENILE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS Disgenet
★★☆☆☆
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
Cholangiocarcinoma Cholangiocarcinoma Pubtator 35716043 Associate
★☆☆☆☆
Found in Text Mining only
Juvenile arthritis Arthritis CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Juvenile psoriatic arthritis Juvenile arthritis CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Juvenile-Onset Still Disease Still Disease CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative Seronegative polyarthritis CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive Polyarthritis, Rheumatoid Factor Positive CTD_human_DG 19565504
★☆☆☆☆
Found in Text Mining only