Gene Gene information from NCBI Gene database.
Entrez ID 93349
Gene name SP140 nuclear body protein like
Gene symbol SP140L
Synonyms (NCBI Gene)
-
Chromosome 2
Chromosome location 2q37.1
miRNA miRNA information provided by mirtarbase database.
200
miRTarBase ID miRNA Experiments Reference
MIRT643827 hsa-miR-362-5p HITS-CLIP 23824327
MIRT643826 hsa-miR-500b-5p HITS-CLIP 23824327
MIRT643825 hsa-miR-501-5p HITS-CLIP 23824327
MIRT643824 hsa-miR-212-5p HITS-CLIP 23824327
MIRT643823 hsa-miR-3189-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0003677 Function DNA binding IEA
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
GO:0005730 Component Nucleolus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617747 25105 ENSG00000185404
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H930
Protein name Nuclear body protein SP140-like protein
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03172 HSR 49 147 HSR domain Domain
PF01342 SAND 297 373 SAND domain Family
PF00628 PHD 405 449 PHD-finger Domain
PF00439 Bromodomain 477 555 Bromodomain Domain
Sequence
MAGGGSDLSTRGLNGGVSQVANEMNHLPAHSQSLQRLFTEDQDVDEGLVYDTVFKHFKRH
KLEISNAIKKTFPFLEGLRDRELITNKMFEDSEDSCRNLVPVQRVVYNVLSELEKTFNLS
VLEALFSEVNMQEYPDLIHIYKSFKNA
IQDKLSFQESDRKEREERPDIKLSLKQGEVPES
PEARKESDQACGKMDTVDIANNSTLGKPKRKRRKKKGHGWSRMGTRTQKNNQQNDNSKAD
GQLVSSEKKANMNLKDLSKIRGRKRGKPGTHFTQSDRAPQKRVRSRASRKHKDETVDFQA
PLLPVTCGGVKGILHKEKLEQGTLAKCIQTEDGKWFTPMEFEIKGGYARSKNWRLSVRCG
GWPLRRLMEEGSL
PNPPRIYYRNKKRILKSQNNSSVDPCMRNLDECEVCRDGGELFCCDT
CSRVFHEDCHIPPVESEKTPWNCIFCRMK
ESPGSQQCCQESEVLERQMCPEEQLKCEFLL
LKVYCCSESSFFAKIPYYYYIREACQGLKEPMWLDKIKKRLNEHGYPQVEGFVQDMRLIF
QNHRASYKYKDFGQM
GLRLEAEFEKDFKEVFAIQETNGNS
Sequence length 580
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
LYMPHOID LEUKEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS GWAS catalog
★★☆☆☆
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
Primary biliary cirrhosis Biliary Cirrhosis BEFREE 26347895
★☆☆☆☆
Found in Text Mining only