The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011] See more...

Aliases for NBEAL2 Gene

Aliases for NBEAL2 Gene

  • Neurobeachin Like 2 2 3 5
  • Neurobeachin-Like Protein 2 3 4
  • Neurobeachin-Like 2 2
  • KIAA0540 4
  • BDPLT4 3
  • GPS 3

External Ids for NBEAL2 Gene

Previous GeneCards Identifiers for NBEAL2 Gene

  • GC03P046996
  • GC03P047021

Summaries for NBEAL2 Gene

Entrez Gene Summary for NBEAL2 Gene

  • The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]

GeneCards Summary for NBEAL2 Gene

NBEAL2 (Neurobeachin Like 2) is a Protein Coding gene. Diseases associated with NBEAL2 include Gray Platelet Syndrome and Thrombocytopenia. Among its related pathways are Innate Immune System. Gene Ontology (GO) annotations related to this gene include binding and phospholipid binding. An important paralog of this gene is NBEAL1.

UniProtKB/Swiss-Prot Summary for NBEAL2 Gene

  • Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.

Gene Wiki entry for NBEAL2 Gene

Additional gene information for NBEAL2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NBEAL2 Gene

Genomics for NBEAL2 Gene

GeneHancer (GH) Regulatory Elements for NBEAL2 Gene

Promoters and enhancers for NBEAL2 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
GH03J046973 Promoter/Enhancer 2.1 Ensembl ENCODE CraniofacialAtlas dbSUPER 514.6 -1.3 -1258 9.7 EP300 HNRNPK ZBTB40 ZNF217 SIN3A NRF1 MYC POLR2G SP1 NCOR1 NBEAL2 CCDC12 SETD2 BOLA2P2 FYCO1 PTPN23 SCAP XCR1 PTH1R lnc-CCDC12-1
GH03J047002 Promoter 0.5 EPDnew 515.8 +22.4 22379 0.1 POLR2G RBFOX2 NBEAL2 piR-54199 CCDC12
GH03J046941 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 34.1 -33.2 -33207 9.8 EP300 ZNF217 TCF12 POLR2G NCOR1 JUND ZNF639 ZNF10 ZIC2 KDM6A NBEAL2 CCDC12 PTH1R MYL3 SCAP KLHL18 CSPG5 LRRC2 PRSS45P SETD2
GH03J047008 Promoter/Enhancer 1.8 Ensembl ENCODE CraniofacialAtlas dbSUPER 29.1 +30.0 30016 2.4 SP1 ZIC2 ZNF423 PRPF4 POLR2A NFYB HDAC2 KLF9 SP2 ZNF207 NRADDP lnc-NBEAL2-1 NBEAL2 CCDC12 KIF9 KLHL18 piR-54199
GH03J046924 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 28.3 -47.0 -47016 16.1 CTCF ZSCAN5C TCF12 SP1 JUND TEAD4 FOS EP300 MEF2C MYC NBEAL2 PTH1R CCDC12 MYL3 CSPG5 KLHL18 SETD2 ENSG00000273682 piR-56580-032 lnc-CCDC12-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NBEAL2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NBEAL2

Top Transcription factor binding sites by QIAGEN in the NBEAL2 gene promoter:
  • c-Ets-1
  • c-Myc
  • CP2
  • Lmo2
  • Max1
  • MyoD
  • NF-1
  • NF-kappaB
  • NF-kappaB1
  • Nkx2-5

Genomic Locations for NBEAL2 Gene

Genomic Locations for NBEAL2 Gene
chr3:46,979,683-47,009,704
(GRCh38/hg38)
Size:
30,022 bases
Orientation:
Plus strand
chr3:47,021,173-47,051,193
(GRCh37/hg19)
Size:
30,021 bases
Orientation:
Plus strand

Genomic View for NBEAL2 Gene

Genes around NBEAL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBEAL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBEAL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBEAL2 Gene

Proteins for NBEAL2 Gene

  • Protein details for NBEAL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZNJ1-NBEL2_HUMAN
    Recommended name:
    Neurobeachin-like protein 2
    Protein Accession:
    Q6ZNJ1
    Secondary Accessions:
    • O60288
    • Q6P994
    • Q6UX91
    • Q8NAC9

    Protein attributes for NBEAL2 Gene

    Size:
    2754 amino acids
    Molecular mass:
    302517 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC03994.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAC85154.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for NBEAL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NBEAL2 Gene

Post-translational modifications for NBEAL2 Gene

  • Ubiquitination at Lys833, Lys855, Lys939, Lys1624, Lys1716, Lys1828, Lys1841, Lys2067, Lys2132, and Lys2339
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NBEAL2 Gene

Domains & Families for NBEAL2 Gene

Gene Families for NBEAL2 Gene

Protein Domains for NBEAL2 Gene

Suggested Antigen Peptide Sequences for NBEAL2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ50251, highly similar to Neurobeachin-like 1 (B4DVX0_HUMAN)
  • Neurobeachin-like protein 2 (NBEL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6ZNJ1

UniProtKB/Swiss-Prot:

NBEL2_HUMAN :
  • Belongs to the WD repeat neurobeachin family.
Family:
  • Belongs to the WD repeat neurobeachin family.
genes like me logo Genes that share domains with NBEAL2: view

Function for NBEAL2 Gene

Molecular function for NBEAL2 Gene

UniProtKB/Swiss-Prot Function:
Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules, that contain several growth factors important for platelet biogenesis.

Phenotypes From GWAS Catalog for NBEAL2 Gene

Gene Ontology (GO) - Molecular Function for NBEAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 29187380
genes like me logo Genes that share ontologies with NBEAL2: view
genes like me logo Genes that share phenotypes with NBEAL2: view

Human Phenotype Ontology for NBEAL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NBEAL2 Gene

MGI Knock Outs for NBEAL2:

Animal Model Products

  • Taconic Biosciences Mouse Models for NBEAL2

miRNA for NBEAL2 Gene

miRTarBase miRNAs that target NBEAL2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NBEAL2 Gene

Localization for NBEAL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBEAL2 Gene

Endoplasmic reticulum.

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 NBEAL2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
cytosol 3
extracellular 1
cytoskeleton 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NBEAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA,IEA 21765412
GO:0005886 plasma membrane TAS --
GO:0070821 tertiary granule membrane TAS --
GO:0101003 ficolin-1-rich granule membrane TAS --
genes like me logo Genes that share ontologies with NBEAL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NBEAL2 Gene

Pathways & Interactions for NBEAL2 Gene

PathCards logo

SuperPathways for NBEAL2 Gene

genes like me logo Genes that share pathways with NBEAL2: view

Pathways by source for NBEAL2 Gene

3 Reactome pathways for NBEAL2 Gene

Gene Ontology (GO) - Biological Process for NBEAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030220 platelet formation IMP 21765411
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with NBEAL2: view

No data available for SIGNOR curated interactions for NBEAL2 Gene

Drugs & Compounds for NBEAL2 Gene

No Compound Related Data Available

Transcripts for NBEAL2 Gene

mRNA/cDNA for NBEAL2 Gene

2 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBEAL2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9: - - - - - - - - - - - - - - - - - - - - - - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b · 33c ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38a · 38b ^ 39a · 39b ^ 40a · 40b ^
SP1: - -
SP2: - - - - -
SP3: -
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9: - - - - - - - - - - - - - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

ExUns: 41 ^ 42a · 42b ^ 43a · 43b ^ 44a · 44b ^ 45a · 45b ^ 46 ^ 47 ^ 48a · 48b · 48c ^ 49a · 49b · 49c ^ 50 ^ 51a · 51b ^ 52a · 52b ^ 53a · 53b ^ 54a · 54b ^
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - - - - -
SP4:
SP5:
SP6: - - - -
SP7: - - -
SP8: -
SP9:
SP10: - - -
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16: -
SP17:
SP18:

ExUns: 55 ^ 56 ^ 57a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for NBEAL2 Gene

GeneLoc Exon Structure for
NBEAL2

Expression for NBEAL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NBEAL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NBEAL2 Gene

This gene is overexpressed in Whole Blood (x14.2).

Protein differential expression in normal tissues from HIPED for NBEAL2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (28.8), Platelet (12.9), Monocytes (9.9), and Cervix (8.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NBEAL2 Gene



Protein tissue co-expression partners for NBEAL2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NBEAL2

SOURCE GeneReport for Unigene cluster for NBEAL2 Gene:

Hs.437043

mRNA Expression by UniProt/SwissProt for NBEAL2 Gene:

Q6ZNJ1-NBEL2_HUMAN
Tissue specificity: Expressed in megakaryocytes.

Evidence on tissue expression from TISSUES for NBEAL2 Gene

  • Spleen(4.3)
  • Nervous system(4.2)
  • Blood(3.8)
  • Intestine(2.9)
  • Bone marrow(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NBEAL2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with NBEAL2: view

Orthologs for NBEAL2 Gene

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

Orthologs for NBEAL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NBEAL2 31 30
  • 99.49 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NBEAL2 30
  • 87.47 (n)
dog
(Canis familiaris)
Mammalia NBEAL2 31 30
  • 87.3 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nbeal2 30
  • 85.17 (n)
mouse
(Mus musculus)
Mammalia Nbeal2 17 31 30
  • 84.74 (n)
oppossum
(Monodelphis domestica)
Mammalia NBEAL2 31
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 50 (a)
ManyToMany
-- 31
  • 44 (a)
ManyToMany
chicken
(Gallus gallus)
Aves NBEAL2 31 30
  • 68.58 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NBEAL2 31
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nbeal2 30
  • 63.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11780 30
zebrafish
(Danio rerio)
Actinopterygii nbeal2 31 30
  • 61.11 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG43367 31
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T01H10.8 31
  • 14 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BPH1 31
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToMany
Species where no ortholog for NBEAL2 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 NBEAL2 Gene

ENSEMBL:
Gene Tree for NBEAL2 (if available)
TreeFam:
Gene Tree for NBEAL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NBEAL2: view image

Paralogs for NBEAL2 Gene

Paralogs for NBEAL2 Gene

(5) SIMAP similar genes for NBEAL2 Gene using alignment to 5 proteins:

  • NBEL2_HUMAN
  • H0Y764_HUMAN
  • H7C354_HUMAN
  • H7C3Y7_HUMAN
  • H7C408_HUMAN
genes like me logo Genes that share paralogs with NBEAL2: view

Variants for NBEAL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NBEAL2 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
627099 Likely Pathogenic: Gray platelet syndrome 47,003,872(+) G/A MISSENSE_VARIANT
627106 Likely Pathogenic: Gray platelet syndrome 47,005,036(+) G/A MISSENSE_VARIANT
627111 Likely Pathogenic: Gray platelet syndrome 47,005,221(+) T/C MISSENSE_VARIANT
627258 Likely Pathogenic: Gray platelet syndrome 46,995,524(+) C/T NONSENSE
627267 Likely Pathogenic: Gray platelet syndrome 46,995,594(+) CT/C FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for NBEAL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for NBEAL2 Gene

Variant ID Type Subtype PubMed ID
esv3303281 CNV mobile element insertion 20981092
esv3387041 CNV insertion 20981092
esv3596073 CNV loss 21293372
nsv428417 CNV loss 18775914
nsv590209 CNV loss 21841781
nsv954479 CNV deletion 24416366

Variation tolerance for NBEAL2 Gene

Residual Variation Intolerance Score: 8.87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.49; 97.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NBEAL2 Gene

Human Gene Mutation Database (HGMD)
NBEAL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NBEAL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NBEAL2 Gene

Disorders for NBEAL2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for NBEAL2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NBEL2_HUMAN
  • Gray platelet syndrome (GPS) [MIM:139090]: A rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules. {ECO:0000269 PubMed:21765411, ECO:0000269 PubMed:21765412, ECO:0000269 PubMed:21765413}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NBEAL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NBEAL2: view

No data available for Genatlas for NBEAL2 Gene

Publications for NBEAL2 Gene

  1. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. (PMID: 21765411) Albers CA … Ouwehand WH (Nature genetics 2011) 2 3 4 54
  2. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. (PMID: 21765412) Gunay-Aygun M … Gahl WA (Nature genetics 2011) 2 3 4 54
  3. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. (PMID: 21765413) Kahr WH … Di Paola J (Nature genetics 2011) 3 4 54
  4. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PMID: 19367581) So HC … Sham PC (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2010) 3 41 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for NBEAL2 Gene

Sources for NBEAL2 Gene