PDZD9 (PDZ domain containing 9)

Gene Gene information from NCBI Gene database.
Gene miRNA Other IDs Protein Associated diseases
Entrez ID 255762
Gene name PDZ domain containing 9
Gene symbol PDZD9
Synonyms (NCBI Gene)
C16orf65
Chromosome 16
Chromosome location 16p12.2
miRNA miRNA information provided by mirtarbase database.
9
Gene miRNA Other IDs Protein Associated diseases
Show/Hide all (9)
miRTarBase ID miRNA Experiments Reference
MIRT1224088 hsa-miR-1254 CLIP-seq
MIRT1224089 hsa-miR-1827 CLIP-seq
MIRT1224090 hsa-miR-3116 CLIP-seq
MIRT1224091 hsa-miR-4299 CLIP-seq
MIRT1224092 hsa-miR-4316 CLIP-seq
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IXQ8
Protein name PDZ domain-containing protein 9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 19 → 107 PDZ domain Domain
Sequence 
MQKASHKNKKERGVSNKVKTSVHNLSKTQQTKLTVGSLGLGLIIIQHGPYLQITHLIRKG
AAANDGKLQPGDVLISVGHANVLGYTLREFLQLLQHITIGTVLQIKVYRDFINIPEEWQE
IYDLIPEAKFPVTSTPKKIELAKDESFTSSDDNENVDLDKRLQYYRYPWSTVHHPARRPI
SISRDWHGYKKKNHTISVGKDINCDVMIHRDDKKEVRAPSPYWIMVKQDNESSSSSTSST
SDAFWLEDCAQVEEGKAQLVSKVG
Sequence length 264
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene miRNA Other IDs Protein 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
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5 — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations