This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript var... See more...

Aliases for LUC7L2 Gene

Aliases for LUC7L2 Gene

  • LUC7 Like 2, Pre-MRNA Splicing Factor 2 3 5
  • Putative RNA-Binding Protein Luc7-Like 2 3 4
  • LUC7-Like 2 (S. Cerevisiae) 2
  • CGI-74 Protein 2
  • LUC7-Like 2 3
  • CGI-59 3
  • CGI-74 3
  • LUC7B2 3

External Ids for LUC7L2 Gene

Previous GeneCards Identifiers for LUC7L2 Gene

  • GC07P138445
  • GC07P138459
  • GC07P138501
  • GC07P138695
  • GC07P139026
  • GC07P133354
  • GC07P139341

Summaries for LUC7L2 Gene

Entrez Gene Summary for LUC7L2 Gene

  • This gene encodes a protein that contains a C2H2-type zinc finger, coiled-coil region and arginine, serine-rich (RS) domain. A similar protein in mouse interacts with sodium channel modifier 1, and the encoded protein may be involved in the recognition of non-consensus splice donor sites in association with the U1 snRNP spliceosomal subunit. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]

GeneCards Summary for LUC7L2 Gene

LUC7L2 (LUC7 Like 2, Pre-MRNA Splicing Factor) is a Protein Coding gene. Diseases associated with LUC7L2 include Pediatric Meningioma and Adult Astrocytic Tumour. Gene Ontology (GO) annotations related to this gene include mRNA binding. An important paralog of this gene is FMC1-LUC7L2.

UniProtKB/Swiss-Prot Summary for LUC7L2 Gene

Gene Wiki entry for LUC7L2 Gene

Additional gene information for LUC7L2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LUC7L2 Gene

Genomics for LUC7L2 Gene

GeneHancer (GH) Regulatory Elements for LUC7L2 Gene

Promoters and enhancers for LUC7L2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LUC7L2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LUC7L2

Top Transcription factor binding sites by QIAGEN in the LUC7L2 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • FOXO4

Genomic Locations for LUC7L2 Gene

Genomic Locations for LUC7L2 Gene
chr7:139,340,359-139,423,457
(GRCh38/hg38)
Size:
83,099 bases
Orientation:
Plus strand
chr7:139,026,106-139,108,200
(GRCh37/hg19)
Size:
82,095 bases
Orientation:
Plus strand

Genomic View for LUC7L2 Gene

Genes around LUC7L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LUC7L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LUC7L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LUC7L2 Gene

Proteins for LUC7L2 Gene

  • Protein details for LUC7L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y383-LC7L2_HUMAN
    Recommended name:
    Putative RNA-binding protein Luc7-like 2
    Protein Accession:
    Q9Y383
    Secondary Accessions:
    • B7Z500
    • Q8IUP9
    • Q9NVL3
    • Q9NVN7
    • Q9UQN1

    Protein attributes for LUC7L2 Gene

    Size:
    392 amino acids
    Molecular mass:
    46514 Da
    Quaternary structure:
    • Interacts with SCNM1.
    SequenceCaution:
    • Sequence=AAD34069.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for LUC7L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LUC7L2 Gene

Post-translational modifications for LUC7L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LUC7L2 Gene

No data available for DME Specific Peptides for LUC7L2 Gene

Domains & Families for LUC7L2 Gene

Gene Families for LUC7L2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for LUC7L2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LUC7L2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55988, highly similar to RNA-binding protein Luc7-like 2 (B7Z4Q3_HUMAN)
  • cDNA FLJ55994, highly similar to RNA-binding protein Luc7-like 2 (B7Z500_HUMAN)
  • Putative RNA-binding protein Luc7-like 2 (LC7L2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y383

UniProtKB/Swiss-Prot:

LC7L2_HUMAN :
  • Belongs to the Luc7 family.
Family:
  • Belongs to the Luc7 family.
genes like me logo Genes that share domains with LUC7L2: view

Function for LUC7L2 Gene

Molecular function for LUC7L2 Gene

UniProtKB/Swiss-Prot Function:
May bind to RNA via its Arg/Ser-rich domain.

Phenotypes From GWAS Catalog for LUC7L2 Gene

Gene Ontology (GO) - Molecular Function for LUC7L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0003729 mRNA binding IBA 21873635
GO:0005515 protein binding IPI 16169070
GO:0019899 enzyme binding IPI 19574390
genes like me logo Genes that share ontologies with LUC7L2: view
genes like me logo Genes that share phenotypes with LUC7L2: view

Animal Model Products

CRISPR Products

miRNA for LUC7L2 Gene

miRTarBase miRNAs that target LUC7L2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LUC7L2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for LUC7L2 Gene

Localization for LUC7L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LUC7L2 Gene

Nucleus speckle. Nucleus, nucleoplasm. Note=Colocalizes with SCNM1 and SNRNP70 in nuclear speckles. {ECO:0000250 UniProtKB:Q7TNC4}.

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 LUC7L2 gene
Compartment Confidence
nucleus 5
plasma membrane 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for LUC7L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IEA --
GO:0005685 U1 snRNP IBA 21873635
GO:0016607 nuclear speck ISS --
GO:0071004 U2-type prespliceosome IBA 21873635
genes like me logo Genes that share ontologies with LUC7L2: view

Pathways & Interactions for LUC7L2 Gene

PathCards logo

SuperPathways for LUC7L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LUC7L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006376 mRNA splice site selection IBA 21873635
genes like me logo Genes that share ontologies with LUC7L2: view

No data available for Pathways by source and SIGNOR curated interactions for LUC7L2 Gene

Drugs & Compounds for LUC7L2 Gene

No Compound Related Data Available

Transcripts for LUC7L2 Gene

mRNA/cDNA for LUC7L2 Gene

3 REFSEQ mRNAs :
19 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 LUC7L2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LUC7L2 Gene

No ASD Table

Relevant External Links for LUC7L2 Gene

GeneLoc Exon Structure for
LUC7L2

Expression for LUC7L2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LUC7L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LUC7L2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (13.0) and Lymph node (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LUC7L2 Gene



Protein tissue co-expression partners for LUC7L2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LUC7L2

SOURCE GeneReport for Unigene cluster for LUC7L2 Gene:

Hs.731488

Evidence on tissue expression from TISSUES for LUC7L2 Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Skin(4.3)
  • Kidney(2.5)
  • Lung(2.4)
  • Spleen(2.1)
  • Heart(2)
  • Muscle(2)
genes like me logo Genes that share expression patterns with LUC7L2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for LUC7L2 Gene

Orthologs for LUC7L2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LUC7L2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LUC7L2 31 30
  • 99.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LUC7L2 31 30
  • 95.41 (n)
OneToMany
cow
(Bos Taurus)
Mammalia LUC7L2 30
  • 95.41 (n)
-- 31
  • 81 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Luc7l2 30
  • 93.79 (n)
mouse
(Mus musculus)
Mammalia Luc7l2 17 31 30
  • 93.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 93 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 84 (a)
OneToMany
chicken
(Gallus gallus)
Aves LUC7L2 31 30
  • 84.51 (n)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 90 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia luc7l2 30
  • 80.91 (n)
Str.1795 30
African clawed frog
(Xenopus laevis)
Amphibia cg7564-prov 30
zebrafish
(Danio rerio)
Actinopterygii C1H7orf55 31
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7564 31
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea B0495.8 31
  • 35 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes LUC7 31
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 58 (a)
OneToMany
Species where no ortholog for LUC7L2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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)
  • wheat (Triticum aestivum)

Evolution for LUC7L2 Gene

ENSEMBL:
Gene Tree for LUC7L2 (if available)
TreeFam:
Gene Tree for LUC7L2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LUC7L2: view image

Paralogs for LUC7L2 Gene

Paralogs for LUC7L2 Gene

(3) SIMAP similar genes for LUC7L2 Gene using alignment to 1 proteins:

  • LC7L2_HUMAN
genes like me logo Genes that share paralogs with LUC7L2: view

Variants for LUC7L2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LUC7L2 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
rs3757435 - p.Asp361Glu

Additional dbSNP identifiers (rs#s) for LUC7L2 Gene

Structural Variations from Database of Genomic Variants (DGV) for LUC7L2 Gene

Variant ID Type Subtype PubMed ID
esv2292861 CNV deletion 18987734
esv2371727 CNV deletion 18987734
esv2735212 CNV deletion 23290073
esv2735231 CNV deletion 23290073
esv3572165 CNV loss 25503493
esv3572166 CNV loss 25503493
nsv1110976 OTHER inversion 24896259
nsv1117762 CNV deletion 24896259
nsv1137296 CNV deletion 24896259
nsv478581 CNV novel sequence insertion 20440878

Variation tolerance for LUC7L2 Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.99; 49.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LUC7L2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LUC7L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LUC7L2 Gene

Disorders for LUC7L2 Gene

MalaCards: The human disease database

(45) MalaCards diseases for LUC7L2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pediatric meningioma
  • childhood meningioma
adult astrocytic tumour
  • adult astrocytoma
labyrinthitis
  • labyrinthine disorder
retinitis pigmentosa 11
  • rp11
bone marrow cancer
  • bone marrow neoplasm
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for LUC7L2

genes like me logo Genes that share disorders with LUC7L2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LUC7L2 Gene

Publications for LUC7L2 Gene

  1. Jmjd6 catalyses lysyl-hydroxylation of U2AF65, a protein associated with RNA splicing. (PMID: 19574390) Webby CJ … Böttger A (Science (New York, N.Y.) 2009) 3 4 54
  2. Evidence for a direct role of the disease modifier SCNM1 in splicing. (PMID: 17656373) Howell VM … Meisler MH (Human molecular genetics 2007) 2 3 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. The DNA sequence of human chromosome 7. (PMID: 12853948) Hillier LW … Wilson RK (Nature 2003) 3 4 54

Products for LUC7L2 Gene

Sources for LUC7L2 Gene