SP110 (SP110 nuclear body protein)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3431
Gene name Gene Name - the full gene name approved by the HGNC.
SP110 nuclear body protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SP110
Synonyms (NCBI Gene) Gene synonyms aliases
IFI41, IFI75, IPR1, VODI
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.1
Summary Summary of gene provided in NCBI Entrez Gene.
The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can func
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs927135298 G>A Likely-pathogenic Coding sequence variant, stop gained
rs1560530550 ->G Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(153)
miRTarBase ID miRNA Experiments Reference
MIRT019722 hsa-miR-375 Microarray 20215506
MIRT621119 hsa-miR-6819-3p HITS-CLIP 23824327
MIRT621118 hsa-miR-6877-3p HITS-CLIP 23824327
MIRT621117 hsa-miR-4722-3p HITS-CLIP 23824327
MIRT621116 hsa-miR-6727-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
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:0003677 Function DNA binding TAS 7693701
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 25593309
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604457 5401 ENSG00000135899
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9HB58
Protein name Sp110 nuclear body protein (Interferon-induced protein 41/75) (Speckled 110 kDa) (Transcriptional coactivator Sp110)
Protein function Transcription factor. May be a nuclear hormone receptor coactivator. Enhances transcription of genes with retinoic acid response elements (RARE).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03172 HSR 8 → 106 HSR domain Domain
PF01342 SAND 458 → 533 SAND domain Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in peripheral blood leukocytes and spleen. Detected at intermediate levels in thymus, prostate, testis, ovary, small intestine and colon, and at low levels in heart, brain, placenta, lung, liver, skeletal muscle, kidne
Sequence 
MFTMTRAMEEALFQHFMHQKLGIAYAIHKPFPFFEGLLDNSIITKRMYMESLEACRNLIP
VSRVVHNILTQLERTFNLSLLVTLFSQINLREYPNLVTIYRSFKRVGASYEWQSRDTPIL
LEAPTGLAEGSSLHTPLALPPPQPPQPSCSPCAPRVSEPGTSSQQSDEILSESPSPSDPV
LPLPALIQEGRSTSVTNDKLTSKMNAEEDSEEMPSLLTSTVQVASDNLIPQIRDKEDPQE
MPHSPLGSMPEIRDNSPEPNDPEEPQEVSSTPSDKKGKKRKRCIWSTPKRRHKKKSLPGG
TASSRHGIQKKLKRVDQVPQKKDDSTCNSTVETRAQKARTECARKSRSEEIIDGTSEMNE
GKRSQKTPSTPRRVTQGAASPGHGIQEKLQVVDKVTQRKDDSTWNSEVMMRVQKARTKCA
RKSRLKEKKKEKDICSSSKRRFQKNIHRRGKPKSDTVDFHCSKLPVTCGEAKGILYKKKM
KHGSSVKCIRNEDGTWLTPNEFEVEGKGRNAKNWKRNIRCEGMTLGELLKRKNSDECEVC
CQGGQLLCCGTCPRVFHEDCHIPPVEAKRMLWSCTFCRMKRSSGSQQCHHVSKTLERQMQ
PQDQLIRDYGEPFQEAMWLDLVKERLITEMYTVAWFVRDMRLMFRNHKTFYKASDFGQVG
LDLEAEFEKDLKDVLGFHEANDGGFWTLP
Sequence length 689
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hepatic Venoocclusive Disease With Immunodeficiency hepatic veno-occlusive disease-immunodeficiency syndrome rs397515361, rs397515362, rs199845488, rs1560530550, rs927135298, rs199938221, rs763364899 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Lymphocytic Leukemia Chronic lymphocytic leukemia N/A N/A GWAS
Show/Hide Text Mining Associations (20)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Agammaglobulinemia Associate 16648851
Breast Neoplasms Associate 27832451
Carcinoma Hepatocellular Associate 35653238
Diabetes Mellitus Associate 29920932
Genetic Diseases Inborn Associate 16648851
Hepatic Veno Occlusive Disease Associate 16648851
Hepatic venoocclusive disease with immunodeficiency Associate 28825155
Hepatitis B Associate 35653238
Immunologic Deficiency Syndromes Associate 16648851
Infections Associate 35653238