Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	11262
Gene name Gene Name - the full gene name approved by the HGNC.	SP140 nuclear body protein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SP140
Synonyms (NCBI Gene) Gene synonyms aliases	LYSP100, LYSP100-A, LYSP100-B
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.	This gene encodes a member of the SP100 family of proteins, which are share common domains including an N-terminal homogeneously staining region domain followed by a SP100/autoimmune regulator/NucP41/P75/deformed epidermal autoregulatory factor domain, a

Show/Hide all(9)

miRTarBase ID	miRNA	Experiments
MIRT1381182	hsa-miR-4749-3p	CLIP-seq
MIRT2114073	hsa-miR-1236	CLIP-seq
MIRT2114074	hsa-miR-3064-5p	CLIP-seq
MIRT2114075	hsa-miR-3156-3p	CLIP-seq
MIRT2114076	hsa-miR-4292	CLIP-seq
MIRT2114077	hsa-miR-4301	CLIP-seq
MIRT2114078	hsa-miR-4308	CLIP-seq
MIRT2114079	hsa-miR-550b	CLIP-seq
MIRT2114080	hsa-miR-670	CLIP-seq

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001650	Component	Fibrillar center	IDA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	24267382, 32911434
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	25593309
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8910577
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006952	Process	Defense response	IEA
GO:0006952	Process	Defense response	TAS	8910577
GO:0008270	Function	Zinc ion binding	IEA
GO:0016605	Component	PML body	IEA
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
608602	17133	ENSG00000079263

Protein

UniProt ID

Q13342

Protein name

Nuclear body protein SP140 (Lymphoid-restricted homolog of Sp100) (LYSp100) (Nuclear autoantigen Sp-140) (Speckled 140 kDa)

Protein function

Component of the nuclear body, also known as nuclear domain 10, PML oncogenic domain, and KR body (PubMed:8910577). May be involved in the pathogenesis of acute promyelocytic leukemia and viral infection (PubMed:8910577). May play a role in chro

PDB

2MD7 , 2MD8 , 6G8R , 8J70 , 8J71

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03172	HSR	38 → 136	HSR domain	Domain
PF01342	SAND	584 → 660	SAND domain	Family
PF00439	Bromodomain	766 → 840	Bromodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: High levels in spleen and peripheral blood leukocytes, much lower levels in tonsils, thymus, prostate, ovary, small intestine, and colon (PubMed:8695863, PubMed:8910577). Very low levels in heart, brain, placenta, lung, liver, skeletal

Sequence

MAQQGQQGQMASGDSNLNFRMVAEIQNVEGQNLQEQVCPEPIFRFFRENKVEIASAITRP
FPFLMGLRDRSFISEQMYEHFQEAFRNLVPVTRVMYCVLSELEKTFGWSHLEALFSRINL
MAYPDLNEIYRSFQNVCYEHSPLQMNNVNDLEDRPRLLPYGKQENSNACHEMDDIAVPQE
ALSSSPRCEPGFSSESCEQLALPKAGGGDAEDAPSLLPGGGVSCKLAIQIDEGESEEMPK
LLPYDTEVLESNGMIDAARTYSTAPGEKQGEEEGRNSPRKRNQDKEKYQESPEGRDKETF
DLKTPQVTNEGEPEKGLCLLPGEGEEGSDDCSEMCDGEEPQEASSSLARCGSVSCLSAET
FDLKTPQVTNEGEPEKELSLLPGEGEEGSDDCSEMCDGEERQEASSSLARRGSVSSELEN
HPMNEEGESEELASSLLYDNVPGAEQSAYENEKCSCVMCFSEEVPGSPEARTESDQACGT
MDTVDIANNSTLGKPKRKRRKKRGHGWSRMRMRRQENSQQNDNSKADGQVVSSEKKANVN
LKDLSKIRGRKRGKPGTRFTQSDRAAQKRVRSRASRKHKDETVDFKAPLLPVTCGGVKGI
LHKKKLQQGILVKCIQTEDGKWFTPTEFEIKGGHARSKNWRLSVRCGGWPLRWLMENGFL
PDPPRIRYRKKKRILKSQNNSSVDPCMRNLDECEVCRDGGELFCCDTCSRVFHEDCHIPP
VEAERTPWNCIFCRMKESPGSQQCCQESEVLERQMCPEEQLKCEFLLLKVYCCSESSFFA
KIPYYYYIREACQGLKEPMWLDKIKKRLNEHGYPQVEGFVQDMRLIFQNHRASYKYKDFG
QMGFRLEAEFEKNFKEVFAIQETNGNN

Sequence length

867

Interactions

View interactions

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
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.
Crohn Disease	Crohn's disease	N/A	N/A	GWAS
Inflammatory Bowel Disease	Inflammatory bowel disease	N/A	N/A	GWAS
Lymphocytic Leukemia	Chronic lymphocytic leukemia	N/A	N/A	GWAS
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS
Psoriasis	Psoriasis	N/A	N/A	GWAS
Sarcoidosis	Sarcoidosis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Chromosome Deletion	Inhibit	23708256
Crohn Disease	Associate	35986286, 40226707
Depressive Disorder	Associate	40226707
Disorders of Excessive Somnolence	Associate	26888452
Gastrointestinal Neoplasms	Associate	40226707
Inflammation	Associate	35986286
Inflammation	Stimulate	36600652
Interferon gamma receptor 1 deficiency	Associate	23683877
Leukemia	Associate	37370186
Leukemia B Cell	Associate	20855867
Leukemia Lymphocytic Chronic B Cell	Stimulate	20731705
Leukemia Lymphocytic Chronic B Cell	Associate	20855867, 22235315, 23708256, 24267382
Leukemia Prolymphocytic T Cell	Associate	20553269
Leukemia Promyelocytic Acute	Associate	8910577
Liver Cirrhosis Biliary	Associate	24267382, 8910577
Lung Neoplasms	Associate	36600652
Lymphoma Mantle Cell	Associate	34882582, 37605345
Melanoma	Associate	36600652
Mucocutaneous Lymph Node Syndrome	Stimulate	24635044
Multiple Myeloma	Associate	24429703, 25743686
Multiple Sclerosis	Associate	36405756
Neoplasms	Inhibit	22235315
Neoplasms	Associate	30465816, 35568781, 36600652
Osteosarcoma	Associate	38225273
Sleep Apnea Obstructive	Associate	26888452
Sleep Apnea Syndromes	Associate	26888452
Squamous Cell Carcinoma of Head and Neck	Associate	33361747, 36600652
Virus Diseases	Associate	8910577

SP140 (SP140 nuclear body protein)