Gene Gene information from NCBI Gene database.
Entrez ID 4069
Gene name Lysozyme
Gene symbol LYZ
Synonyms (NCBI Gene)
AMYLD5LYZF1LZM
Chromosome 12
Chromosome location 12q15
Summary This gene encodes human lysozyme, whose natural substrate is the bacterial cell wall peptidoglycan (cleaving the beta[1-4]glycosidic linkages between N-acetylmuramic acid and N-acetylglucosamine). Lysozyme is one of the antimicrobial agents found in human
SNPs SNP information provided by dbSNP.
4
SNP ID Visualize variation Clinical significance Consequence
rs121913547 T>C Pathogenic Coding sequence variant, missense variant
rs121913549 T>A Pathogenic Coding sequence variant, missense variant
rs387906535 G>C Pathogenic Missense variant, coding sequence variant
rs387906536 T>A,C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
261
miRTarBase ID miRNA Experiments Reference
MIRT030049 hsa-miR-26b-5p Microarray 19088304
MIRT696225 hsa-miR-508-5p HITS-CLIP 23313552
MIRT696224 hsa-miR-3613-3p HITS-CLIP 23313552
MIRT696223 hsa-miR-6849-3p HITS-CLIP 23313552
MIRT696222 hsa-miR-939-3p HITS-CLIP 23313552
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SP1 Unknown 15504356
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0003796 Function Lysozyme activity IBA
GO:0003796 Function Lysozyme activity IEA
GO:0003796 Function Lysozyme activity TAS 2829884
GO:0003824 Function Catalytic activity IEA
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
153450 6740 ENSG00000090382
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P61626
Protein name Lysozyme C (EC 3.2.1.17) (1,4-beta-N-acetylmuramidase C)
Protein function Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte-macrophage system and enhance the activity of immunoagents.
PDB 133L , 134L , 1B5U , 1B5V , 1B5W , 1B5X , 1B5Y , 1B5Z , 1B7L , 1B7M , 1B7N , 1B7O , 1B7P , 1B7Q , 1B7R , 1B7S , 1BB3 , 1BB4 , 1BB5 , 1C43 , 1C45 , 1C46 , 1C7P , 1CJ6 , 1CJ7 , 1CJ8 , 1CJ9 , 1CKC , 1CKD , 1CKF , 1CKG , 1CKH , 1D6P , 1D6Q , 1DI3 , 1DI4 , 1DI5 , 1EQ4 , 1EQ5 , 1EQE , 1GAY , 1GAZ , 1GB0 , 1GB2 , 1GB3 , 1GB5 , 1GB6 , 1GB7 , 1GB8 , 1GB9 , 1GBO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00062 Lys 19 146 C-type lysozyme/alpha-lactalbumin family Domain
Sequence
Sequence length 148
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Salivary secretion   Neutrophil degranulation
Antimicrobial peptides
Amyloid fiber formation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Amyloidosis, hereditary systemic 5 Pathogenic rs121913547, rs121913549 RCV004555833
RCV004555835
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial visceral amyloidosis, Ostertag type Pathogenic rs387906536 RCV000015452
RCV000015454
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALYS AMYLOIDOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, FAMILIAL VISCERAL Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL VISCERAL AMYLOIDOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne BEFREE 28117399, 30082920
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 28117399, 30082920
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 12070599, 9543668
★☆☆☆☆
Found in Text Mining only
Adenoid Cystic Carcinoma Adenocarcinoma BEFREE 9129700
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 9543668
★☆☆☆☆
Found in Text Mining only
ALys amyloidosis ALys amyloidosis Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease Alzheimer disease Pubtator 27249223, 27327445 Associate
★☆☆☆☆
Found in Text Mining only
Amyloid nephropathy Amyloid Nephropathy BEFREE 10534505, 12675840, 8270767
★☆☆☆☆
Found in Text Mining only
Amyloid Neuropathies Familial Amyloid neuropathy Pubtator 12675840, 17407782 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 10534505, 12360495, 12668424, 15713462, 16126226, 16329101, 21965601, 21988333, 22978355, 25217048, 27428539, 28049649, 28272865, 2837542, 28827166
View all (9 more)
★☆☆☆☆
Found in Text Mining only