ZMAT5 (zinc finger matrin-type 5)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 55954
Gene name Zinc finger matrin-type 5
Gene symbol ZMAT5
Synonyms (NCBI Gene)
SNRNP20U11/U12-20KZC3H19
Chromosome 22
Chromosome location 22q12.2
miRNA miRNA information provided by mirtarbase database.
67
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (67)
miRTarBase ID miRNA Experiments Reference
MIRT042144 hsa-miR-484 CLASH 23622248
MIRT038494 hsa-miR-296-3p CLASH 23622248
MIRT457537 hsa-miR-5586-3p PAR-CLIP 23592263
MIRT457536 hsa-miR-22-3p PAR-CLIP 23592263
MIRT457534 hsa-miR-4693-3p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (12)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
GO:0005681 Component Spliceosomal complex IEA
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
619741 28046 ENSG00000100319
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.
Q9UDW3
Protein name Zinc finger matrin-type protein 5 (U11/U12 small nuclear ribonucleoprotein 20 kDa protein) (U11/U12 snRNP 20 kDa protein) (U11/U12-20K)
PDB 8R7N , 8Y6O , 9GBW , 9GC0 , 9GCL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06220 zf-U1 2 → 38 U1 zinc finger Domain
PF00642 zf-CCCH 52 → 78 Zinc finger C-x8-C-x5-C-x3-H type (and similar) Family
Sequence 
MGKRYFCDYCDRSFQDNLHNRKKHLNGLQHLKAKKVWYDMFRDAAAILLDEQNKRPCRKF
LLTGQCDFGSNCRFSHMSERDLQELSIQVEEERRAREWLLDAPELPEGHLEDWLEKRAKR
LSSAPSSRAEPIRTTVFQYPVGWPPVQELPPSLRAPPPGGWPLQPRVQWG
Sequence length 170
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
    mRNA Splicing - Minor Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 (2)
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
IRRITABLE BOWEL SYNDROME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations