Aliases for SP140L Gene

Aliases for SP140L Gene

  • SP140 Nuclear Body Protein Like 2 3 5
  • Nuclear Body Protein SP140-Like Protein 3 4
  • SP140 Nuclear Body Protein-Like 2
  • SP140L-1 Protein 3
  • SP140L-2 Protein 3
  • SP140L-3 Protein 3
  • SP140L 5

External Ids for SP140L Gene

Previous GeneCards Identifiers for SP140L Gene

  • GC02P230900
  • GC02P231191
  • GC02P223032

Summaries for SP140L Gene

GeneCards Summary for SP140L Gene

SP140L (SP140 Nuclear Body Protein Like) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is SP140.

Additional gene information for SP140L Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SP140L Gene

Genomics for SP140L Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SP140L Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J230326 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 600.7 +0.3 349 3.4 GATAD2A ATF7 REST NFKBIZ RCOR2 POLR2A JUND GABPA RBFOX2 RXRB SP140L SP100 lnc-SP110-9
GH02J230342 Promoter 1.3 EPDnew Ensembl 604.7 +15.4 15448 1.6 CREB1 LEF1 IKZF1 PHF21A PKNOX1 BRD9 DPF2 HDAC1 SOX6 NKRF SP140L piR-52368-081 RF00994-561 SP100
GH02J230410 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.9 +84.8 84811 2.6 HNRNPL PRDM10 NFKBIZ BACH1 LARP7 ZNF143 RBFOX2 PKNOX1 SMAD5 IRF2 ENSG00000279964 lnc-SP110-6 SP140L SP100 lnc-SP110-5
GH02J230413 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 10.3 +89.7 89680 5.9 SP1 HNRNPL GATAD2A IKZF1 NFKBIZ POLR2A RCOR2 BACH1 JUND ZNF143 SP100 NONHSAG030735.2 SP140L piR-51137-065 CAB39
GH02J230395 Enhancer 0.6 dbSUPER 26.9 +72.8 72807 1.9 DDX20 TCF12 EP400 NCOR1 FOXM1 MNT TAL1 DPF2 CHAMP1 MTA2 LOC105373925 SP140L NONHSAG030733.2 lnc-SP110-5 SP100
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SP140L on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SP140L

Top Transcription factor binding sites by QIAGEN in the SP140L gene promoter:
  • AML1a
  • GATA-1
  • GR
  • GR-alpha
  • HNF-3beta
  • Pax-3
  • Pax-4a
  • POU2F1
  • POU2F1a
  • Tal-1beta

Genomic Locations for SP140L Gene

Genomic Locations for SP140L Gene
chr2:230,327,152-230,407,506
(GRCh38/hg38)
Size:
80,355 bases
Orientation:
Plus strand
chr2:231,191,894-231,268,447
(GRCh37/hg19)
Size:
76,554 bases
Orientation:
Plus strand

Genomic View for SP140L Gene

Genes around SP140L on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SP140L Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SP140L Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SP140L Gene

Proteins for SP140L Gene

  • Protein details for SP140L Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H930-SP14L_HUMAN
    Recommended name:
    Nuclear body protein SP140-like protein
    Protein Accession:
    Q9H930
    Secondary Accessions:
    • Q2M375
    • Q4ZG65
    • Q9BSP3

    Protein attributes for SP140L Gene

    Size:
    580 amino acids
    Molecular mass:
    67005 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAX88869.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAB14413.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SP140L Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SP140L Gene

Post-translational modifications for SP140L Gene

  • Ubiquitination at Lys238
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SP140L Gene

Domains & Families for SP140L Gene

Gene Families for SP140L Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SP140L Gene

Suggested Antigen Peptide Sequences for SP140L Gene

GenScript: Design optimal peptide antigens:
  • Nuclear body protein SP140-like protein (LY10L_HUMAN)
genes like me logo Genes that share domains with SP140L: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SP140L Gene

Function for SP140L Gene

Phenotypes From GWAS Catalog for SP140L Gene

Gene Ontology (GO) - Molecular Function for SP140L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SP140L: view
genes like me logo Genes that share phenotypes with SP140L: view

Animal Model Products

CRISPR Products

miRNA for SP140L Gene

miRTarBase miRNAs that target SP140L

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SP140L

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SP140L Gene

Localization for SP140L Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SP140L gene
Compartment Confidence
nucleus 4
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SP140L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with SP140L: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SP140L Gene

Pathways & Interactions for SP140L Gene

PathCards logo

SuperPathways for SP140L Gene

No Data Available

Interacting Proteins for SP140L Gene

Gene Ontology (GO) - Biological Process for SP140L Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with SP140L: view

No data available for Pathways by source and SIGNOR curated interactions for SP140L Gene

Drugs & Compounds for SP140L Gene

No Compound Related Data Available

Transcripts for SP140L Gene

mRNA/cDNA for SP140L Gene

6 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SP140L

Alternative Splicing Database (ASD) splice patterns (SP) for SP140L Gene

No ASD Table

Relevant External Links for SP140L Gene

GeneLoc Exon Structure for
SP140L

Expression for SP140L Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SP140L Gene

mRNA differential expression in normal tissues according to GTEx for SP140L Gene

This gene is overexpressed in Spleen (x4.1).

Protein differential expression in normal tissues from HIPED for SP140L Gene

This gene is overexpressed in Plasma (24.4), Peripheral blood mononuclear cells (21.2), Fetal testis (11.4), and Blymphocyte (8.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SP140L Gene



Protein tissue co-expression partners for SP140L Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SP140L

SOURCE GeneReport for Unigene cluster for SP140L Gene:

Hs.589661

Evidence on tissue expression from TISSUES for SP140L Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with SP140L: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SP140L Gene

Orthologs for SP140L Gene

This gene was present in the common ancestor of chordates.

Orthologs for SP140L Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SP140L 30 31
  • 98.85 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia -- 31
  • 70 (a)
ManyToMany
-- 31
  • 26 (a)
ManyToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 47 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 34 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia A630001G21Rik 31
  • 27 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 19 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii BX569789.2 31
  • 33 (a)
ManyToMany
zgc:113411 31
  • 24 (a)
ManyToMany
BX569789.4 31
  • 21 (a)
ManyToMany
Species where no ortholog for SP140L was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SP140L Gene

ENSEMBL:
Gene Tree for SP140L (if available)
TreeFam:
Gene Tree for SP140L (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SP140L: view image

Paralogs for SP140L Gene

(6) SIMAP similar genes for SP140L Gene using alignment to 5 proteins:

  • SP14L_HUMAN
  • H7BYP4_HUMAN
  • U5Y1J8_HUMAN
  • U5Y3L1_HUMAN
  • U5Y3U3_HUMAN

Pseudogenes.org Pseudogenes for SP140L Gene

genes like me logo Genes that share paralogs with SP140L: view

Variants for SP140L Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SP140L Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
769268 Benign: not provided 230,401,811(+) G/A INTRON_VARIANT
rs28497362 - p.Thr225Met
rs4973318 - p.Met88Thr
rs7590429 - p.Pro377Ser

Additional dbSNP identifiers (rs#s) for SP140L Gene

Structural Variations from Database of Genomic Variants (DGV) for SP140L Gene

Variant ID Type Subtype PubMed ID
dgv4180n100 CNV loss 25217958
dgv7334n54 CNV gain 21841781
esv2625322 CNV deletion 19546169
esv2673997 CNV deletion 23128226
esv2721594 CNV deletion 23290073
esv2721596 CNV deletion 23290073
esv2751844 CNV gain 17911159
esv29172 CNV loss 19812545
esv3397627 CNV insertion 20981092
esv3561132 CNV deletion 23714750
esv3594600 CNV loss 21293372
esv3594601 CNV loss 21293372
esv3893565 CNV gain+loss 25118596
esv993570 CNV loss 20482838
nsv1001929 CNV gain+loss 25217958
nsv1006206 CNV gain 25217958
nsv1109334 CNV deletion 24896259
nsv480569 CNV novel sequence insertion 20440878
nsv508889 CNV insertion 20534489
nsv521344 CNV gain 19592680
nsv584667 CNV loss 21841781
nsv819175 CNV loss 19587683
nsv979180 CNV duplication 23825009

Variation tolerance for SP140L Gene

Residual Variation Intolerance Score: 93.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.62; 78.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SP140L Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SP140L

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SP140L Gene

Disorders for SP140L Gene

Additional Disease Information for SP140L

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for SP140L Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SP140L Gene

Publications for SP140L Gene

  1. SP140L, an Evolutionarily Recent Member of the SP100 Family, Is an Autoantigen in Primary Biliary Cirrhosis. (PMID: 26347895) Saare M … Peterson P (Journal of immunology research 2015) 2 3
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F … Nebel A (Mutation research 2010) 3 41
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Site-specific mapping of the human SUMO proteome reveals co-modification with phosphorylation. (PMID: 28112733) Hendriks IA … Nielsen ML (Nature structural & molecular biology 2017) 4

Products for SP140L Gene

Sources for SP140L Gene