CYSTM1 (cysteine rich transmembrane module containing 1)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 84418
Gene name Cysteine rich transmembrane module containing 1
Gene symbol CYSTM1
Synonyms (NCBI Gene)
C5orf32ORF1-FL49
Chromosome 5
Chromosome location 5q31.3
miRNA miRNA information provided by mirtarbase database.
11
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
miRTarBase ID miRNA Experiments Reference
MIRT016046 hsa-miR-374b-5p Sequencing 20371350
MIRT052215 hsa-let-7b-5p CLASH 23622248
MIRT041954 hsa-miR-484 CLASH 23622248
MIRT504767 hsa-miR-4680-3p PAR-CLIP 23446348
MIRT504766 hsa-miR-183-3p PAR-CLIP 23446348
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005886 Component Plasma membrane TAS
GO:0016020 Component Membrane IEA
GO:0070062 Component Extracellular exosome HDA 19056867
GO:0070821 Component Tertiary granule membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H1C7
Protein name Cysteine-rich and transmembrane domain-containing protein 1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12734 CYSTM 36 → 97 Cysteine-rich TM module stress tolerance Family
Sequence
Sequence length 97
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Neutrophil degranulation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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)
Show/Hide Unknown Diseases (8)
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
ANDROGENETIC ALOPECIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (3)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Huntington Disease Huntington Disease BEFREE 25626709
★★★★★
★☆☆☆☆
Found in Text Mining only
Huntington Disease Huntington disease Pubtator 25626709 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Lupus Erythematosus Systemic Systemic lupus erythematosus Pubtator 38013304 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only