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Aliases for LZTR1 Gene

Aliases for LZTR1 Gene

  • Leucine Zipper Like Transcription Regulator 1 2 3 5
  • Leucine-Zipper-Like Transcriptional Regulator 1 2 3
  • LZTR-1 3 4
  • BTBD29 3
  • SWNTS2 3
  • TCFL2 4
  • NS10 3

External Ids for LZTR1 Gene

Previous GeneCards Identifiers for LZTR1 Gene

  • GC22P018035
  • GC22P019660
  • GC22P019661
  • GC22P021339
  • GC22P004604
  • GC22P021450

Summaries for LZTR1 Gene

Entrez Gene Summary for LZTR1 Gene

  • This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for LZTR1 Gene

LZTR1 (Leucine Zipper Like Transcription Regulator 1) is a Protein Coding gene. Diseases associated with LZTR1 include Schwannomatosis 2 and Noonan Syndrome 10. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity. An important paralog of this gene is HCFC1.

UniProtKB/Swiss-Prot for LZTR1 Gene

  • Probable transcriptional regulator that may play a crucial role in embryogenesis.

Gene Wiki entry for LZTR1 Gene

Additional gene information for LZTR1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LZTR1 Gene

Genomics for LZTR1 Gene

GeneHancer (GH) Regulatory Elements for LZTR1 Gene

Promoters and enhancers for LZTR1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22J020978 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 684.1 -0.4 -449 5.3 HDGF PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 LZTR1 ENSG00000272829 THAP7-AS1 LOC100420177 TRMT2A THAP7 PI4KAP2 ABHD17AP4 ENSG00000273342 ENSG00000273343
GH22J020494 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 183.9 -486.2 -486170 2.7 CLOCK FEZF1 YBX1 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 MED15 KLHL22 LOC101928824 LZTR1 DGCR8 RPL7AP70 TRMT2A LOC100420177 RPL8P5 THAP7-AS1
GH22J020078 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 57.6 -900.5 -900492 5.2 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 DGCR8 TRMT2A MED15 LZTR1 RPL7AP70 UFD1 RPL8P5 ENSG00000273300 LOC100420177 ENSG00000243762
GH22J020916 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 62.7 -63.1 -63116 5.7 HNRNPUL1 PKNOX1 CLOCK MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CRKL LZTR1 MED15 TRMT2A SNAP29 SERPIND1 PI4KAP2 DGCR8 ZNF74 PPIL2
GH22J020506 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 52.7 -472.5 -472511 5.8 HDGF HNRNPUL1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 MED15 LZTR1 TRMT2A DGCR8 LOC100420177 RPL7AP70 RPL8P5 ZNF74 KLHL22 ABHD17AP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LZTR1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the LZTR1 gene promoter:
  • PPAR-gamma1
  • PPAR-gamma2
  • Pax-4a
  • STAT1alpha
  • PPAR-alpha
  • STAT1beta
  • STAT1
  • E47
  • Tal-1

Genomic Locations for LZTR1 Gene

Genomic Locations for LZTR1 Gene
17,026 bases
Plus strand
19,577 bases
Plus strand

Genomic View for LZTR1 Gene

Genes around LZTR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LZTR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LZTR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LZTR1 Gene

Proteins for LZTR1 Gene

  • Protein details for LZTR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Leucine-zipper-like transcriptional regulator 1
    Protein Accession:
    Secondary Accessions:
    • Q14776
    • Q20WK0

    Protein attributes for LZTR1 Gene

    840 amino acids
    Molecular mass:
    94719 Da
    Quaternary structure:
    No Data Available
    • Sequence=BAA07508.1; Type=Frameshift; Positions=16, 69, 222; Evidence={ECO:0000305};

neXtProt entry for LZTR1 Gene

Post-translational modifications for LZTR1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for LZTR1 Gene

Domains & Families for LZTR1 Gene

Gene Families for LZTR1 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for LZTR1 Gene

Suggested Antigen Peptide Sequences for LZTR1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with LZTR1: view

No data available for UniProtKB/Swiss-Prot for LZTR1 Gene

Function for LZTR1 Gene

Molecular function for LZTR1 Gene

UniProtKB/Swiss-Prot Function:
Probable transcriptional regulator that may play a crucial role in embryogenesis.
GENATLAS Biochemistry:
leucine zipper-like transcriptional regulator 1,deleted in DiGeorge syndrome

Phenotypes From GWAS Catalog for LZTR1 Gene

Gene Ontology (GO) - Molecular Function for LZTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003700 DNA binding transcription factor activity TAS 7633402
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with LZTR1: view
genes like me logo Genes that share phenotypes with LZTR1: view

Human Phenotype Ontology for LZTR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LZTR1 Gene

MGI Knock Outs for LZTR1:
  • Lztr1 Lztr1<tm1a(EUCOMM)Wtsi>

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LZTR1 Gene

Localization for LZTR1 Gene

Subcellular locations from

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 LZTR1 gene
Compartment Confidence
golgi apparatus 5
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for LZTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA 16356934
genes like me logo Genes that share ontologies with LZTR1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for LZTR1 Gene

Pathways & Interactions for LZTR1 Gene

SuperPathways for LZTR1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LZTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0009653 anatomical structure morphogenesis TAS 7633402
genes like me logo Genes that share ontologies with LZTR1: view

No data available for Pathways by source and SIGNOR curated interactions for LZTR1 Gene

Drugs & Compounds for LZTR1 Gene

No Compound Related Data Available

Transcripts for LZTR1 Gene

mRNA/cDNA for LZTR1 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(206) Selected AceView cDNA sequences:
(23) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for LZTR1 Gene

Leucine-zipper-like transcription regulator 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LZTR1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ·
SP1: - - - -
SP2: - -
SP4: -
SP5: - - -
SP6: - -
SP8: -

ExUns: 17d · 17e ^ 18a · 18b · 18c ^ 19a · 19b · 19c ^ 20a · 20b · 20c · 20d ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b · 24c
SP1: - - -
SP3: - - - -
SP9: - - -
SP10: -
SP14: - - - - -

Relevant External Links for LZTR1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for LZTR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for LZTR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LZTR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (56.1) and CD8 Tcells (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LZTR1 Gene

Protein tissue co-expression partners for LZTR1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LZTR1 Gene:


SOURCE GeneReport for Unigene cluster for LZTR1 Gene:


Evidence on tissue expression from TISSUES for LZTR1 Gene

  • Nervous system(4.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LZTR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
  • aorta
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • liver
  • spleen
  • pelvis
  • placenta
  • testicle
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with LZTR1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LZTR1 Gene

Orthologs for LZTR1 Gene

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

Orthologs for LZTR1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LZTR1 34 33
  • 99.29 (n)
(Canis familiaris)
Mammalia LZTR1 34 33
  • 91.24 (n)
(Bos Taurus)
Mammalia LZTR1 34 33
  • 90.08 (n)
(Rattus norvegicus)
Mammalia Lztr1 33
  • 87.95 (n)
(Mus musculus)
Mammalia Lztr1 16 34 33
  • 87.76 (n)
(Monodelphis domestica)
Mammalia LZTR1 34
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 78 (a)
-- 34
  • 75 (a)
-- 34
  • 68 (a)
(Gallus gallus)
Aves LZTR1 33
  • 80.04 (n)
-- 34
  • 21 (a)
(Anolis carolinensis)
Reptilia LZTR1 34
  • 88 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia lztr1 33
  • 75.39 (n)
(Danio rerio)
Actinopterygii lztr1 34 33
  • 76.91 (n)
Dr.19626 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5275 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004292 33
  • 61.15 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3711 34 33
  • 60.46 (n)
EG:BACR7A4.19 35
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL2 34
  • 14 (a)
KEL1 34
  • 11 (a)
Species where no ortholog for LZTR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)

Evolution for LZTR1 Gene

Gene Tree for LZTR1 (if available)
Gene Tree for LZTR1 (if available)
Evolutionary constrained regions (ECRs) for LZTR1: view image

Paralogs for LZTR1 Gene

Paralogs for LZTR1 Gene

(1) SIMAP similar genes for LZTR1 Gene using alignment to 8 proteins:

  • B7Z3T9_HUMAN
  • F8WB67_HUMAN
  • H7C0X1_HUMAN
  • H7C305_HUMAN
genes like me logo Genes that share paralogs with LZTR1: view

Variants for LZTR1 Gene

Sequence variations from dbSNP and Humsavar for LZTR1 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs148677674 likely-pathogenic, Noonan syndrome 10 20,994,988(+) C/A/T coding_sequence_variant, missense_variant
rs189150283 pathogenic, Schwannomatosis 2 20,992,304(+) C/T coding_sequence_variant, stop_gained
rs587777176 pathogenic, Schwannomatosis 2 20,985,828(+) G/A intron_variant
rs587777177 pathogenic, Schwannomatosis 2, Schwannomatosis 2 (SWNTS2) [MIM:615670] 20,987,548(+) C/T coding_sequence_variant, missense_variant
rs587777178 pathogenic, Schwannomatosis 2, Schwannomatosis 2 (SWNTS2) [MIM:615670] 20,995,865(+) C/T coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for LZTR1 Gene

Variant ID Type Subtype PubMed ID
dgv4483n100 CNV gain 25217958
dgv7993n54 CNV gain 21841781
dgv7994n54 CNV gain 21841781
esv2678175 CNV deletion 23128226
esv2763693 CNV gain 21179565
esv3647304 CNV loss 21293372
esv3647305 CNV gain 21293372
esv3893441 CNV gain+loss 25118596
nsv1056614 CNV loss 25217958
nsv1062280 CNV gain 25217958
nsv1065617 CNV gain 25217958
nsv436864 CNV insertion 17901297
nsv471185 CNV loss 18288195
nsv520145 CNV loss 19592680
nsv523162 CNV loss 19592680
nsv588305 CNV loss 21841781
nsv588306 CNV gain 21841781
nsv828960 CNV loss 20364138
nsv828961 CNV gain 20364138
nsv834141 CNV loss 17160897
nsv834142 CNV gain 17160897

Variation tolerance for LZTR1 Gene

Residual Variation Intolerance Score: 1.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.46; 28.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LZTR1 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LZTR1 Gene

Disorders for LZTR1 Gene

MalaCards: The human disease database

(8) MalaCards diseases for LZTR1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
schwannomatosis 2
  • swnts2
noonan syndrome 10
  • ns10
  • glioblastoma with sarcomatous component
giant cell glioblastoma
  • monstrocellular sarcoma
noonan syndrome 1
  • ns1
- elite association - COSMIC cancer census association via MalaCards
Search LZTR1 in MalaCards View complete list of genes associated with diseases


  • Schwannomatosis 2 (SWNTS2) [MIM:615670]: A cancer predisposition syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves. {ECO:0000269 PubMed:24362817}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Noonan syndrome 10 (NS10) [MIM:616564]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269 PubMed:25795793}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LZTR1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LZTR1: view

No data available for Genatlas for LZTR1 Gene

Publications for LZTR1 Gene

  1. The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis. (PMID: 16356934) Nacak TG … Kroll J (The Journal of biological chemistry 2006) 2 3 22 58
  2. Isolation and characterization of a novel gene deleted in DiGeorge syndrome. (PMID: 7633402) Kurahashi H … Nishisho I (Human molecular genetics 1995) 2 3 4 58
  3. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. (PMID: 25795793) Yamamoto GL … Bertola DR (Journal of medical genetics 2015) 3 4 58
  4. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. (PMID: 24362817) Piotrowski A … Messiaen LM (Nature genetics 2014) 3 4 58
  5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 44 58

Products for LZTR1 Gene

Sources for LZTR1 Gene

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