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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. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding. 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

Regulatory Elements for LZTR1 Gene

Enhancers for LZTR1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22H020494 1.8 FANTOM5 ENCODE dbSUPER 164.8 -483.6 -483619 2.7 FEZF1 YBX1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 ZC3H11A MEF2D LZTR1 DGCR8 MED15 RPL7AP70 TRMT2A LOC100420177 RPL8P5 THAP7-AS1 THAP7 ENSG00000273343
GH22H020078 2 FANTOM5 Ensembl ENCODE dbSUPER 50.1 -897.9 -897941 5.2 HNRNPUL1 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 DGCR8 TRMT2A LZTR1 RPL8P5 MED15 UFD1 RPL7AP70 ENSG00000273300 LOC100420177 RANBP1
GH22H020978 1.6 Ensembl ENCODE dbSUPER 46.9 +2.1 2103 5.3 HDGF PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 LZTR1 THAP7-AS1 LOC100420177 PI4KAP2 THAP7 TRMT2A ZDHHC8 ABHD17AP4 ENSG00000273342 ENSG00000273343
GH22H020961 1.2 Ensembl ENCODE 60.7 -17.5 -17475 0.9 HDGF PKNOX1 ARNT ZFP64 ARID4B YBX1 ZNF143 ZC3H11A REST ZNF623 DGCR8 LZTR1 THAP7 THAP7-AS1 TRMT2A PPIL2 ZDHHC8 CCDC116 LOC100420177 PI4KAP2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LZTR1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for LZTR1 Gene

Genomic Locations for LZTR1 Gene
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

Other Protein References for LZTR1 Gene

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

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

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

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 transcription factor activity, sequence-specific DNA binding TAS 7633402
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:

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

Subcellular locations from the

Human Protein Atlas (HPA)

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 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

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, PaxDb, 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 33 34
  • 99.29 (n)
(Canis familiaris)
Mammalia LZTR1 33 34
  • 91.24 (n)
(Bos Taurus)
Mammalia LZTR1 33 34
  • 90.08 (n)
(Rattus norvegicus)
Mammalia Lztr1 33
  • 87.95 (n)
(Mus musculus)
Mammalia Lztr1 33 16 34
  • 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 33 34
  • 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 33 34
  • 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)

Paralogs for LZTR1 Gene

Paralogs for LZTR1 Gene

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

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 Sequence Context AA Info Type
rs587777177 Pathogenic, Schwannomatosis 2 (SWNTS2) [MIM:615670] 20,987,548(+) CCACT(C/T)GGCCG reference, missense
rs587777178 Pathogenic, Schwannomatosis 2 (SWNTS2) [MIM:615670] 20,995,865(+) CCGCC(C/T)GCTCC reference, missense
rs587777180 Pathogenic, Schwannomatosis 2 (SWNTS2) [MIM:615670] 20,993,967(+) AGCGC(A/G)GAGCC reference, missense
rs797045165 Pathogenic, Noonan syndrome 10 (NS10) [MIM:616564] 20,991,686(+) AGCGG(C/T)GCTAC reference, missense
rs797045166 Pathogenic, Noonan syndrome 10 (NS10) [MIM:616564] 20,990,474(+) GCAAA(A/G)CGGAG reference, missense

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

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

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)

Relevant External Links for LZTR1 Gene

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

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

Disorders for LZTR1 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
  • schwannomatosis 2
noonan syndrome 10
  • ns10
lztr1-related noonan syndrome
  • noonan syndrome 10
giant cell glioblastoma
  • monstrocellular sarcoma [obs]
  • glioblastoma with sarcomatous component
- elite association - COSMIC cancer census association via MalaCards
Search LZTR1 in MalaCards View complete list of genes associated with diseases


  • 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.
  • 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.

Relevant External Links for LZTR1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) 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 60
  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 60
  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 60
  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 60
  5. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 45 60

Products for LZTR1 Gene

Sources for LZTR1 Gene

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