Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	57595
Gene name	PDZ domain containing 4
Gene symbol	PDZD4
Synonyms (NCBI Gene)	LNX5LU1PDZK4PDZRN4L
Chromosome	X
Chromosome location	Xq28

153

Show/Hide all (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
MIRT612265	hsa-miR-8485	HITS-CLIP	23824327
MIRT612264	hsa-miR-3675-3p	HITS-CLIP	23824327
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
MIRT612265	hsa-miR-8485	HITS-CLIP	23824327
MIRT612264	hsa-miR-3675-3p	HITS-CLIP	23824327
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
MIRT612265	hsa-miR-8485	HITS-CLIP	23824327
MIRT612264	hsa-miR-3675-3p	HITS-CLIP	23824327
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
MIRT612265	hsa-miR-8485	HITS-CLIP	23824327
MIRT612264	hsa-miR-3675-3p	HITS-CLIP	23824327
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
MIRT612265	hsa-miR-8485	HITS-CLIP	23824327
MIRT622840	hsa-miR-6888-5p	HITS-CLIP	23824327
MIRT612264	hsa-miR-3675-3p	HITS-CLIP	23824327
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
MIRT612265	hsa-miR-8485	HITS-CLIP	23824327
MIRT612264	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT612266	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT612265	hsa-miR-8485	HITS-CLIP	23824327
MIRT612264	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT491712	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT491711	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT491710	hsa-miR-6089	PAR-CLIP	23592263
MIRT491708	hsa-miR-6869-3p	PAR-CLIP	23592263
MIRT491709	hsa-miR-3960	PAR-CLIP	23592263
MIRT491707	hsa-miR-8072	PAR-CLIP	23592263
MIRT491706	hsa-miR-4706	PAR-CLIP	23592263
MIRT491705	hsa-miR-4749-5p	PAR-CLIP	23592263
MIRT491704	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT491703	hsa-miR-663a	PAR-CLIP	23592263
MIRT491702	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT491701	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT491700	hsa-miR-8085	PAR-CLIP	23592263
MIRT491699	hsa-miR-3175	PAR-CLIP	23592263
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
MIRT612265	hsa-miR-8485	HITS-CLIP	23824327
MIRT612264	hsa-miR-3675-3p	HITS-CLIP	23824327
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
MIRT612265	hsa-miR-8485	HITS-CLIP	23824327
MIRT612264	hsa-miR-3675-3p	HITS-CLIP	23824327
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
MIRT612265	hsa-miR-8485	HITS-CLIP	23824327
MIRT612264	hsa-miR-3675-3p	HITS-CLIP	23824327
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
MIRT612265	hsa-miR-8485	HITS-CLIP	23824327
MIRT612264	hsa-miR-3675-3p	HITS-CLIP	23824327
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
MIRT612265	hsa-miR-8485	HITS-CLIP	23824327
MIRT622840	hsa-miR-6888-5p	HITS-CLIP	23824327
MIRT612264	hsa-miR-3675-3p	HITS-CLIP	23824327
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
MIRT612265	hsa-miR-8485	HITS-CLIP	23824327
MIRT612264	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT612266	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT612265	hsa-miR-8485	HITS-CLIP	23824327
MIRT612264	hsa-miR-3675-3p	HITS-CLIP	23824327
MIRT491712	hsa-miR-6777-5p	PAR-CLIP	23592263
MIRT491711	hsa-miR-6889-5p	PAR-CLIP	23592263
MIRT491710	hsa-miR-6089	PAR-CLIP	23592263
MIRT491708	hsa-miR-6869-3p	PAR-CLIP	23592263
MIRT491709	hsa-miR-3960	PAR-CLIP	23592263
MIRT491707	hsa-miR-8072	PAR-CLIP	23592263
MIRT491706	hsa-miR-4706	PAR-CLIP	23592263
MIRT491705	hsa-miR-4749-5p	PAR-CLIP	23592263
MIRT491704	hsa-miR-1908-5p	PAR-CLIP	23592263
MIRT491703	hsa-miR-663a	PAR-CLIP	23592263
MIRT491702	hsa-miR-6787-5p	PAR-CLIP	23592263
MIRT491701	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT491700	hsa-miR-8085	PAR-CLIP	23592263
MIRT491699	hsa-miR-3175	PAR-CLIP	23592263
MIRT1224064	hsa-miR-185	CLIP-seq
MIRT1224065	hsa-miR-3650	CLIP-seq
MIRT1224066	hsa-miR-4455	CLIP-seq
MIRT1224067	hsa-miR-548aa	CLIP-seq
MIRT1224068	hsa-miR-548ac	CLIP-seq
MIRT1224069	hsa-miR-548d-3p	CLIP-seq
MIRT1224070	hsa-miR-548z	CLIP-seq
MIRT1224071	hsa-miR-609	CLIP-seq
MIRT2065302	hsa-miR-1224-3p	CLIP-seq
MIRT2065303	hsa-miR-1260	CLIP-seq
MIRT2065304	hsa-miR-1260b	CLIP-seq
MIRT2065305	hsa-miR-1280	CLIP-seq
MIRT2065306	hsa-miR-2115	CLIP-seq
MIRT2065307	hsa-miR-3074-5p	CLIP-seq
MIRT2065308	hsa-miR-3190	CLIP-seq
MIRT2065309	hsa-miR-4514	CLIP-seq
MIRT2065310	hsa-miR-4688	CLIP-seq
MIRT2065311	hsa-miR-4691-5p	CLIP-seq
MIRT2065312	hsa-miR-4692	CLIP-seq
MIRT2065313	hsa-miR-4773	CLIP-seq
MIRT2065314	hsa-miR-4786-3p	CLIP-seq
MIRT2065315	hsa-miR-516a-3p	CLIP-seq
MIRT2065316	hsa-miR-532-3p	CLIP-seq
MIRT2065317	hsa-miR-671-5p	CLIP-seq
MIRT2065318	hsa-miR-759	CLIP-seq
MIRT2065308	hsa-miR-3190	CLIP-seq
MIRT2065313	hsa-miR-4773	CLIP-seq
MIRT2065314	hsa-miR-4786-3p	CLIP-seq
MIRT2065317	hsa-miR-671-5p	CLIP-seq
MIRT2456212	hsa-miR-1470	CLIP-seq
MIRT2456213	hsa-miR-3127-3p	CLIP-seq
MIRT2456214	hsa-miR-4446-5p	CLIP-seq
MIRT2456215	hsa-miR-4667-3p	CLIP-seq
MIRT2456216	hsa-miR-4755-5p	CLIP-seq
MIRT2456217	hsa-miR-642a	CLIP-seq
MIRT2456212	hsa-miR-1470	CLIP-seq
MIRT2456213	hsa-miR-3127-3p	CLIP-seq
MIRT2456214	hsa-miR-4446-5p	CLIP-seq
MIRT2456215	hsa-miR-4667-3p	CLIP-seq
MIRT2456216	hsa-miR-4755-5p	CLIP-seq
MIRT2456217	hsa-miR-642a	CLIP-seq
MIRT2591193	hsa-miR-1266	CLIP-seq
MIRT2591194	hsa-miR-4279	CLIP-seq
MIRT2591195	hsa-miR-4518	CLIP-seq

Show/Hide all (2)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	IEA
GO:0005938	Component	Cell cortex	IEA

MIM	HGNC	e!Ensembl
300634	21167	ENSG00000067840

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
IIQINGVDVQNREEAVAILSQEENTNISLLVARPESQLAKRWKDSDRDDFLDDFGSENEG
ELRARKLKSPPAQQPGNEEEKGAPDAGPGLSNSQELDSGVGRTDESTRNEESSEHDLLGD
EPPSSTNTPGSLRKFGLQGDALQSRDFHFSMDSLLAEGAGLGGGDVPGLTDEEYERYREL
LEIKCHLENGNQLGLLFPRASGGNSALDVNRNESLGHEMAMLEEELRHLEFKCRNILRAQ
KMQQLRERCMKAWLLEEESLYDLAASEPKKHELSDISELPEKSDKDSTSAYNTGESCRST
PLLVEPLPESPLRRAMAGNSNLNRTPPGPAVATPAKAAPPPGSPAKFRSLSRDPEAGRRQ
HAEERGRRNPKTGLTLERVGPESSPYLSRRHRGQGQEGEHYHSCVQLAPTRGLEELGHGP
LSLAGGPRVGGVAAAATEAPRMEWKVKVRSDGTRYVAKRPVRDRLLKARALKIREERSGM
TTDDDAVSEMKMGRYWSKEERKQHLIRAREQRKRREFMMQSRLECLREQQNGDSKPELNI
IALSHRKTMKKRNKKILDNWITIQEMLAHGARSADGKRVYNPLLSVTTV

Sequence length

769

Interactions

View interactions

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 (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Abnormal facial shape	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coarse facial features	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hand tremor	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperactivity	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypotonia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Kyphoscoliosis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (3)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrogenic Diabetes Insipidus	Nephrogenic Diabetes Insipidus	BEFREE	24668863	★★★★★ ★☆☆☆☆ Found in Text Mining only
synovial sarcoma	Synovial sarcoma	BEFREE	15077175	★★★★★ ★☆☆☆☆ Found in Text Mining only

PDZD4 (PDZ domain containing 4)