Aliases for SLX4 Gene
Aliases for SLX4 Gene
External Ids for SLX4 Gene
- HGNC: 23845
- Entrez Gene: 84464
- Ensembl: ENSG00000188827
- OMIM: 613278
- UniProtKB: Q8IY92
Previous HGNC Symbols for SLX4 Gene
- BTBD12
Previous GeneCards Identifiers for SLX4 Gene
- GC16M003632
Summaries for SLX4 Gene
-
This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [provided by RefSeq, Sep 2016]
GeneCards Summary for SLX4 Gene
SLX4 (SLX4 Structure-Specific Endonuclease Subunit) is a Protein Coding gene. Diseases associated with SLX4 include Fanconi Anemia, Complementation Group P and Fanconi Anemia, Complementation Group A. Among its related pathways are DNA Double-Strand Break Repair and Fanconi anemia pathway. Gene Ontology (GO) annotations related to this gene include enzyme activator activity and 5-flap endonuclease activity.
UniProtKB/Swiss-Prot for SLX4 Gene
-
Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products. Interacts with the structure-specific ERCC4-ERCC1 endonuclease and promotes the cleavage of bubble structures. Interacts with the structure-specific MUS81-EME1 endonuclease and promotes the cleavage of 3-flap and replication fork-like structures. SLX4 is required for recovery from alkylation-induced DNA damage and is involved in the resolution of DNA double-strand breaks.
Additional gene information for SLX4 Gene
- Monarch Initiative
- Search for SLX4 at DataMed
- Search for SLX4 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLX4 Gene
Genomics for SLX4 Gene
GeneHancer (GH) Regulatory Elements for SLX4 Gene
Promoters and enhancers for SLX4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around SLX4 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for SLX4 Gene
Genomic Locations for SLX4 Gene
- chr16:3,581,165-3,611,598
- (GRCh38/hg38)
- Size:
- 30,434 bases
- Orientation:
- Minus strand
- chr16:3,631,182-3,661,599
- (GRCh37/hg19)
Genomic View for SLX4 Gene
Genes around SLX4 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 16p13.3 by Ensembl
- 16p13.3 by Entrez Gene
- 16p13.3 by HGNC
SLX4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SLX4 Gene
Proteins for SLX4 Gene
-
Protein details for SLX4 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8IY92-SLX4_HUMAN
- Recommended name:
- Structure-specific endonuclease subunit SLX4
- Protein Accession:
- Q8IY92
- Q69YT8
- Q8TF15
- Q96JP1
Protein attributes for SLX4 Gene
- Size:
- 1834 amino acids
- Molecular mass:
- 200012 Da
- Quaternary structure:
-
- Forms a heterodimer with SLX1A/GIYD1. Interacts with ERCC4; catalytic subunit of the ERCC4-ERCC1 endonuclease. Interacts with MUS81; catalytic subunit of the MUS81-EME1 endonuclease. Interacts with MSH2; component of the MSH2-MSH3 mismatch repair complex. Interacts with TERF2-TERF2IP. Interacts with PLK1 and SLX4IP.
Protein Expression for SLX4 Gene
Post-translational modifications for SLX4 Gene
No Post-translational modifications
Other Protein References for SLX4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for SLX4
- Novus Biologicals Antibodies for SLX4
-
Abcam antibodies for SLX4
- Invitrogen Antibodies for SLX4
- Search GeneTex for Antibodies for SLX4
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SLX4
- Origene Custom Protein Services for SLX4
- Search GeneTex for Proteins for SLX4
Assay Products
No data available for DME Specific Peptides for SLX4 Gene
Domains & Families for SLX4 Gene
Gene Families for SLX4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for SLX4 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for SLX4 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8IY92- Family:
-
- Belongs to the SLX4 family.
Function for SLX4 Gene
Molecular function for SLX4 Gene
- UniProtKB/Swiss-Prot Function:
- Regulatory subunit that interacts with and increases the activity of different structure-specific endonucleases. Has several distinct roles in protecting genome stability by resolving diverse forms of deleterious DNA structures originating from replication and recombination intermediates and from DNA damage. Component of the SLX1-SLX4 structure-specific endonuclease that resolves DNA secondary structures generated during DNA repair and recombination. Has endonuclease activity towards branched DNA substrates, introducing single-strand cuts in duplex DNA close to junctions with ss-DNA. Has a preference for 5-flap structures, and promotes symmetrical cleavage of static and migrating Holliday junctions (HJs). Resolves HJs by generating two pairs of ligatable, nicked duplex products. Interacts with the structure-specific ERCC4-ERCC1 endonuclease and promotes the cleavage of bubble structures. Interacts with the structure-specific MUS81-EME1 endonuclease and promotes the cleavage of 3-flap and replication fork-like structures. SLX4 is required for recovery from alkylation-induced DNA damage and is involved in the resolution of DNA double-strand breaks.
Phenotypes From GWAS Catalog for SLX4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004520 | endodeoxyribonuclease activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 19595721 |
| GO:0008047 | enzyme activator activity | IDA | 19596235 |
| GO:0008821 | contributes_to crossover junction endodeoxyribonuclease activity | IDA | 19595721 |
| GO:0017108 | contributes_to 5-flap endonuclease activity | IDA,IEA | 19595721 |
Phenotypes for SLX4 Gene
- MGI mutant phenotypes for SLX4:
-
inferred from 5 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- growth/size/body region phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hematopoietic system phenotype
- skeleton phenotype
- craniofacial phenotype
- no phenotypic analysis
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for SLX4:
Animal Models for SLX4 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for SLX4
-
-
ViGene Biosciences lentiviral particle packaged cDNA for SLX4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLX4 gene
- Search ViGene Biosciences for SLX4
CRISPR Products
-
OriGene CRISPR knockouts for SLX4
- genomics-online: gRNA clones - Search results for available BTBD12 gene related products
- Applied Biological Materials CRISPR for SLX4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLX4
- GenScript: Design CRISPR guide RNA sequences for SLX4
miRNA for SLX4 Gene
- miRTarBase miRNAs that target SLX4
-
- hsa-mir-340-5p (MIRT019533)
- hsa-mir-32-5p (MIRT028283)
- hsa-mir-744-5p (MIRT037462)
- hsa-mir-659-3p (MIRT554141)
- hsa-mir-29b-2-5p (MIRT554142)
- hsa-mir-5589-3p (MIRT554143)
- hsa-mir-299-5p (MIRT554144)
- hsa-mir-5002-3p (MIRT554145)
- hsa-mir-3163 (MIRT554146)
- hsa-mir-5582-3p (MIRT554147)
- hsa-mir-548f-3p (MIRT554148)
- hsa-mir-548e-3p (MIRT554149)
- hsa-mir-548az-3p (MIRT554150)
- hsa-mir-548ar-3p (MIRT554151)
- hsa-mir-548a-3p (MIRT554152)
- hsa-mir-137 (MIRT554153)
- hsa-mir-92a-3p (MIRT554154)
- hsa-mir-367-3p (MIRT554155)
- hsa-mir-363-3p (MIRT554156)
- hsa-mir-25-3p (MIRT554157)
- hsa-mir-92b-3p (MIRT554158)
- hsa-mir-1207-3p (MIRT641326)
- hsa-mir-328-3p (MIRT641327)
- hsa-mir-6749-3p (MIRT641328)
- hsa-mir-6792-3p (MIRT641329)
- hsa-mir-4691-5p (MIRT641330)
- hsa-mir-6851-3p (MIRT641331)
- hsa-mir-6775-3p (MIRT641332)
- hsa-mir-1291 (MIRT641333)
- hsa-mir-6891-3p (MIRT641334)
- hsa-mir-6072 (MIRT641335)
- hsa-mir-141-5p (MIRT641336)
- hsa-mir-1227-3p (MIRT736156)
- hsa-mir-1247-3p (MIRT736397)
- hsa-mir-1273g-3p (MIRT736829)
- hsa-mir-25-5p (MIRT739392)
- hsa-mir-377-5p (MIRT742719)
- hsa-mir-4252 (MIRT743341)
- hsa-mir-4459 (MIRT744846)
- hsa-mir-4537 (MIRT746111)
- hsa-mir-455-3p (MIRT746219)
- hsa-mir-5186 (MIRT749844)
- hsa-mir-550b-2-5p (MIRT750866)
- hsa-mir-6086 (MIRT751872)
- hsa-mir-6087 (MIRT751923)
- hsa-mir-6499-3p (MIRT752835)
- hsa-mir-6516-5p (MIRT753375)
- hsa-mir-658 (MIRT753523)
- hsa-mir-1343-3p (MIRT790107)
- hsa-mir-221-5p (MIRT790188)
- hsa-mir-3074-5p (MIRT790220)
- hsa-mir-3124-3p (MIRT790230)
- hsa-mir-4268 (MIRT790399)
- hsa-mir-4448 (MIRT790455)
- hsa-mir-6772-3p (MIRT790942)
- hsa-mir-6783-3p (MIRT790959)
- hsa-mir-7152-5p (MIRT791105)
- hsa-mir-8073 (MIRT791137)
miRNA Products
- Search ViGene Biosciences for SLX4
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SLX4
- Browse OriGene Inhibitory RNA Products For SLX4
- genomics-online: shRNA clones - Search results for available BTBD12 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SLX4 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for SLX4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLX4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SLX4
- genomics-online: cdna clones - Search results for available BTBD12 gene related products
- orf clones - Search results for available BTBD12 gene related products
- Applied Biological Materials Clones for SLX4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for SLX4
-
ViGene Biosciences adenoviral particle packaged cDNA for SLX4 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for SLX4 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for SLX4 gene
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SLX4 Gene
Localization for SLX4 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SLX4 Gene
- Nucleus. Note=Localizes to sites of DNA damage.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
- Cell Junctions (3)
- Cytosol (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000781 | chromosome, telomeric region | IDA | 24012755 |
| GO:0000784 | colocalizes_with nuclear chromosome, telomeric region | IDA | 19596235 |
| GO:0000790 | colocalizes_with nuclear chromatin | IDA | 19596235 |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
Pathways & Interactions for SLX4 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | DNA Double-Strand Break Repair |
.53
|
|
| 2 | Fanconi anemia pathway | ||
| 3 | Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) | ||
| 4 | Homologous DNA Pairing and Strand Exchange | ||
Pathways by source for SLX4 Gene
1 KEGG pathway for SLX4 Gene
Interacting Proteins for SLX4 Gene
Selected Interacting proteins:
ENSP00000294008
Q8IY92-SLX4_HUMAN
for SLX4 Gene via
STRING
IID
UniProtKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000706 | meiotic DNA double-strand break processing | IBA | -- |
| GO:0000712 | resolution of meiotic recombination intermediates | IBA | -- |
| GO:0000724 | double-strand break repair via homologous recombination | IMP | 19595721 |
| GO:0006260 | DNA replication | IEA | -- |
| GO:0006281 | DNA repair | IMP | 19595722 |
Transcripts for SLX4 Gene
mRNA/cDNA for SLX4 Gene
- (3) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (67) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for SLX4 Gene
CRISPR Products
-
OriGene CRISPR knockouts for SLX4
- genomics-online: gRNA clones - Search results for available BTBD12 gene related products
- Applied Biological Materials CRISPR for SLX4
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for SLX4
- GenScript: Design CRISPR guide RNA sequences for SLX4
miRNA Products
- Search ViGene Biosciences for SLX4
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for SLX4
- Browse OriGene Inhibitory RNA Products For SLX4
- genomics-online: shRNA clones - Search results for available BTBD12 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for SLX4 gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for SLX4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLX4
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SLX4
- genomics-online: cdna clones - Search results for available BTBD12 gene related products
- orf clones - Search results for available BTBD12 gene related products
- Applied Biological Materials Clones for SLX4
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for SLX4 Gene
mRNA differential expression in normal tissues according to GTEx for SLX4 Gene
This gene is overexpressed in Brain - Cerebellum (x4.3).
This gene is overexpressed in Nasal epithelium (51.6) and Cervix (12.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLX4 Gene
NURSA nuclear receptor signaling pathways regulating expression of SLX4 Gene:
SLX4SOURCE GeneReport for Unigene cluster for SLX4 Gene:
Hs.143681Evidence on tissue expression from TISSUES for SLX4 Gene
- Nervous system(4.2)
- Liver(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for SLX4 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cerebellum
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- neck
- nose
- outer ear
- pituitary gland
- skull
Thorax:
- breast
- esophagus
- heart
- lung
- rib
- rib cage
Abdomen:
- intestine
- kidney
- large intestine
- liver
- stomach
Pelvis:
- anus
- ovary
- pelvis
- penis
- prostate
- rectum
- testicle
- ureter
- uterus
- vagina
- vulva
Limb:
- arm
- digit
- finger
- forearm
- hand
- radius
- upper limb
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- hair
- peripheral nervous system
- red blood cell
- skin
- spinal column
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for SLX4
- genomics-online: primer clones - Search results for available BTBD12 gene related products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SLX4 Gene
Orthologs for SLX4 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SLX4 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | SLX4 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | SLX4 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Slx4 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Slx4 33 16 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | SLX4 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SLX4 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | SLX4 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | SLX4 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | Str.16284 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | SLX4 (2 of 2) 34 |
|
OneToMany | |
| slx4 34 |
|
OneToMany |
- Species where no ortholog for SLX4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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)
- 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)
- 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 squirt (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)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for SLX4 Gene
No data available for Paralogs for SLX4 Gene
Variants for SLX4 Gene
| SNP ID | Clin | Chr 16 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1003342051 | uncertain-significance, Fanconi anemia | 3,608,607(-) | T/C | coding_sequence_variant, genic_upstream_transcript_variant, missense_variant | |
| rs1004472564 | uncertain-significance, Fanconi anemia | 3,611,552(-) | C/G/T | genic_upstream_transcript_variant, intron_variant | |
| rs1056085 | conflicting-interpretations-of-pathogenicity, likely-benign, Fanconi anemia, not specified | 3,596,179(-) | C/A/G/T | coding_sequence_variant, missense_variant | |
| rs1060501792 | uncertain-significance, Fanconi anemia | 3,590,276(-) | G/A | coding_sequence_variant, missense_variant | |
| rs1060501793 | uncertain-significance, Fanconi anemia | 3,589,559(-) | T/A | coding_sequence_variant, missense_variant |
Residual Variation Intolerance Score:
98.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.53;
91.14% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SLX4 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLX4 Gene
Disorders for SLX4 Gene
(6) MalaCards diseases for SLX4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fanconi anemia, complementation group p |
|
|
| fanconi anemia, complementation group a |
|
|
| tracheoesophageal fistula |
|
|
| maternal uniparental disomy of chromosome 16 |
|
|
| xeroderma pigmentosum, complementation group f |
|
|
Search SLX4 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SLX4_HUMAN- Fanconi anemia complementation group P (FANCP) [MIM:613951]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. Some individuals affected by Fanconi anemia of complementation group P have skeletal anomalies. {ECO:0000269 PubMed:21240275, ECO:0000269 PubMed:21240277}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for SLX4
No data available for Genatlas for SLX4 Gene
Publications for SLX4 Gene
- Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair. (PMID: 19595721) Muñoz IM … Rouse J (Molecular cell 2009) 2 3 4 58
- Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11347906) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 2 3 4 58
- Analysis of the novel fanconi anemia gene SLX4/FANCP in familial breast cancer cases. (PMID: 22911665) Bakker JL … Waisfisz Q (Human mutation 2013) 3 4 58
- Mutations of the SLX4 gene in Fanconi anemia. (PMID: 21240275) Kim Y … Smogorzewska A (Nature genetics 2011) 3 4 58
- SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. (PMID: 21240277) Stoepker C … de Winter JP (Nature genetics 2011) 3 4 58
Products for SLX4 Gene
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- Browse R&D Systems for biochemical assays
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
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- Browse Cell Culture Products
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- Browse Luminex Assays
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- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for SLX4
- Browse OriGene ELISA Kits
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- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SLX4
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- OriGene qPCR primer pairs for SLX4
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- GenScript Custom Purified and Recombinant Proteins Services for SLX4
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- GenScript Custom overexpressing Cell Line Services for SLX4
- GenScript: Design CRISPR guide RNA sequences for SLX4
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for SLX4
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse Sino Biological ELISA Kits
- Browse Sino Biological ELISA Pair Sets
- Browse Sino Biological CRO Services
- Browse Sino Biological Control Vectors
- Sino Biological Transfection Reagent
- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for SLX4
- Novus Biologicals proteins and lysates for SLX4
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for SLX4
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Browse Antibodies at Cloud-Clone Corp.
- Browse Proteins at Cloud-Clone Corp.
- Browse Assay Kits at Cloud-Clone Corp.
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for SLX4
- Cyagen custom Knockout/knockin (KOKI) mouse models for SLX4
- VectorBuilder custom plasmid, inducible vectors for SLX4
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for SLX4
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for SLX4
- antibodies-online: Search results for 28 available BTBD12 Antibodies ranked by validation data
- Compare Top BTBD12 Antibodies
- antibodies-online: Search results for available BTBD12 related products ranked by validation data
- antibodies-online: Search results for available BTBD12 related products ranked by validation data
- Search GeneTex for Antibodies for SLX4
- Search GeneTex for Proteins for SLX4
- ViGene Biosciences adenoviral particle packaged cDNA for SLX4 gene
- ViGene Biosciences lentiviral particle packaged cDNA for SLX4 gene
- ViGene Biosciences ready-to-package AAV shRNAs for SLX4 gene
- Search ViGene Biosciences for SLX4
- Horizon Cell Lines for SLX4
- genomics-online: cdna clones - Search results for available BTBD12 gene related products
- orf clones - Search results for available BTBD12 gene related products
- genomics-online: gRNA clones - Search results for available BTBD12 gene related products
- genomics-online: primer clones - Search results for available BTBD12 gene related products
- genomics-online: shRNA clones - Search results for available BTBD12 gene related products
Sources for SLX4 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew