Gene Gene information from NCBI Gene database.
Entrez ID 57595
Gene name PDZ domain containing 4
Gene symbol PDZD4
Synonyms (NCBI Gene)
LNX5LU1PDZK4PDZRN4L
Chromosome X
Chromosome location Xq28
miRNA miRNA information provided by mirtarbase database.
153
miRTarBase ID miRNA Experiments Reference
MIRT018281 hsa-miR-335-5p Microarray 18185580
MIRT612266 hsa-miR-216b-5p HITS-CLIP 23824327
MIRT612265 hsa-miR-8485 HITS-CLIP 23824327
MIRT612264 hsa-miR-3675-3p HITS-CLIP 23824327
MIRT612266 hsa-miR-216b-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005938 Component Cell cortex IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300634 21167 ENSG00000067840
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q76G19
Protein name PDZ domain-containing protein 4 (PDZ domain-containing RING finger protein 4-like protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00595 PDZ 130 212 PDZ domain Domain
Tissue specificity TISSUE SPECIFICITY: Brain-specific. Expressed in fetal and adult brain. Up-regulated in synovial carcinomas. {ECO:0000269|PubMed:15077175}.
Sequence
MGCNMCVVQKPEEQYKVMLQVNGKELSKLSQEQTLQALRSSKEPLVIQVLRRSPRLRGDS
SCHDLQLVDSGTQTDITFEHIMALGKLRPPTPPMVILEPPPISHEYYDPAEFMEGGPQEA
DRLDELEYEEVELYKSSHRDKLGLMVCYRTDDEEDLGIYVGEVNPNSIAAKDGRIREGDR
IIQINGVDVQNREEAVAILSQEENTNISLLVA
RPESQLAKRWKDSDRDDFLDDFGSENEG
ELRARKLKSPPAQQPGNEEEKGAPDAGPGLSNSQELDSGVGRTDESTRNEESSEHDLLGD
EPPSSTNTPGSLRKFGLQGDALQSRDFHFSMDSLLAEGAGLGGGDVPGLTDEEYERYREL
LEIKCHLENGNQLGLLFPRASGGNSALDVNRNESLGHEMAMLEEELRHLEFKCRNILRAQ
KMQQLRERCMKAWLLEEESLYDLAASEPKKHELSDISELPEKSDKDSTSAYNTGESCRST
PLLVEPLPESPLRRAMAGNSNLNRTPPGPAVATPAKAAPPPGSPAKFRSLSRDPEAGRRQ
HAEERGRRNPKTGLTLERVGPESSPYLSRRHRGQGQEGEHYHSCVQLAPTRGLEELGHGP
LSLAGGPRVGGVAAAATEAPRMEWKVKVRSDGTRYVAKRPVRDRLLKARALKIREERSGM
TTDDDAVSEMKMGRYWSKEERKQHLIRAREQRKRREFMMQSRLECLREQQNGDSKPELNI
IALSHRKTMKKRNKKILDNWITIQEMLAHGARSADGKRVYNPLLSVTTV
Sequence length 769
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal facial shape Uncertain significance rs2092188098 RCV002291085
Autism Uncertain significance rs2092188098, rs782527593 RCV002291085
RCV003328503
Coarse facial features Uncertain significance rs2520875070 RCV002291084
Hand tremor Uncertain significance rs2092188098 RCV002291085