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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	79955
Gene name Gene Name - the full gene name approved by the HGNC.	PDZ domain containing 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PDZD7
Synonyms (NCBI Gene) Gene synonyms aliases	DFNB57, PDZK7
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q24.31
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a ciliary protein homologous to proteins which are mutated in Usher syndrome patients, and mutations and translocations involving this gene have been associated with two types of Usher syndrome. Multiple transcript variants encoding diff

Show/Hide all(11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs118098246	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs148695069	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs397516633	T>-	Likely-pathogenic, pathogenic	Frameshift variant, downstream transcript variant, coding sequence variant, genic downstream transcript variant, 3 prime UTR variant
rs753034799	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs953422571	G>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, synonymous variant, coding sequence variant, stop gained
rs1554834161	G>A	Pathogenic	Downstream transcript variant, intron variant, stop gained, 3 prime UTR variant, coding sequence variant, genic downstream transcript variant
rs1554834186	G>A	Pathogenic	Intron variant, non coding transcript variant, stop gained, 3 prime UTR variant, coding sequence variant, genic downstream transcript variant
rs1554835103	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1554835827	A>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1564634581	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1590045340	G>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, downstream transcript variant

Show/Hide all(27)

miRTarBase ID	miRNA	Experiments
MIRT1224072	hsa-miR-1182	CLIP-seq
MIRT1224073	hsa-miR-1303	CLIP-seq
MIRT1224074	hsa-miR-193a-5p	CLIP-seq
MIRT1224075	hsa-miR-431	CLIP-seq
MIRT1224076	hsa-miR-4423-5p	CLIP-seq
MIRT1224077	hsa-miR-4781-3p	CLIP-seq
MIRT2065319	hsa-miR-2110	CLIP-seq
MIRT2065320	hsa-miR-3134	CLIP-seq
MIRT2065321	hsa-miR-3150a-3p	CLIP-seq
MIRT2065322	hsa-miR-3175	CLIP-seq
MIRT2065323	hsa-miR-4534	CLIP-seq
MIRT2065324	hsa-miR-939	CLIP-seq
MIRT1224072	hsa-miR-1182	CLIP-seq
MIRT1224074	hsa-miR-193a-5p	CLIP-seq
MIRT2293153	hsa-miR-3122	CLIP-seq
MIRT2293154	hsa-miR-3663-5p	CLIP-seq
MIRT2293155	hsa-miR-3689a-3p	CLIP-seq
MIRT2293156	hsa-miR-3689c	CLIP-seq
MIRT2293157	hsa-miR-3913-5p	CLIP-seq
MIRT1224075	hsa-miR-431	CLIP-seq
MIRT1224076	hsa-miR-4423-5p	CLIP-seq
MIRT1224077	hsa-miR-4781-3p	CLIP-seq
MIRT2293158	hsa-miR-500a	CLIP-seq
MIRT2065319	hsa-miR-2110	CLIP-seq
MIRT2065321	hsa-miR-3150a-3p	CLIP-seq
MIRT2065322	hsa-miR-3175	CLIP-seq
MIRT2065324	hsa-miR-939	CLIP-seq

Show/Hide all(36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002141	Component	Stereocilia ankle link	IEA
GO:0002141	Component	Stereocilia ankle link	ISS
GO:0002142	Component	Stereocilia ankle link complex	IBA
GO:0002142	Component	Stereocilia ankle link complex	IEA
GO:0002142	Component	Stereocilia ankle link complex	ISS
GO:0005515	Function	Protein binding	IPI	19028668, 20440071
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IDA	20440071
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IDA	20440071
GO:0005929	Component	Cilium	IEA
GO:0007605	Process	Sensory perception of sound	IBA
GO:0032420	Component	Stereocilium	IEA
GO:0032420	Component	Stereocilium	ISS
GO:0032426	Component	Stereocilium tip	IBA
GO:0036064	Component	Ciliary basal body	IDA
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043226	Component	Organelle	IEA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0045184	Process	Establishment of protein localization	ISS
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IEA
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	ISS
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IBA
GO:0060088	Process	Auditory receptor cell stereocilium organization	IEA
GO:0060088	Process	Auditory receptor cell stereocilium organization	ISS
GO:0060113	Process	Inner ear receptor cell differentiation	NAS	25406310
GO:0060117	Process	Auditory receptor cell development	IEA
GO:0060117	Process	Auditory receptor cell development	ISS
GO:0120025	Component	Plasma membrane bounded cell projection	IEA
GO:1990696	Component	USH2 complex	IEA
GO:1990696	Component	USH2 complex	ISS

MIM	HGNC	e!Ensembl
612971	26257	ENSG00000186862

Protein

UniProt ID

Q9H5P4

Protein name

PDZ domain-containing protein 7

Protein function

In cochlear developing hair cells, essential in organizing the USH2 complex at stereocilia ankle links. Blocks inhibition of adenylate cyclase activity mediated by ADGRV1.

PDB

2EEH , 7PC5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00595	PDZ	86 → 164	PDZ domain	Domain
PF00595	PDZ	212 → 289	PDZ domain	Domain
PF00595	PDZ	862 → 947	PDZ domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Weakly expressed in the inner ear. Expressed in the retinal pigment epithelium. {ECO:0000269|PubMed:19028668, ECO:0000269|PubMed:20440071}.

Sequence

MAQGFAVGFDPLGLGDLSSGSLSSLSSRGHLGSDSGSTATRYLLRKQQRLLNGPPRGIRA
SSPMGRVILINSPIEANSDESDIIHSVRVEKSPAGRLGFSVRGGSEHGLGIFVSKVEEGS
SAERAGLCVGDKITEVNGLSLESTTMGSAVKVLTSSSRLHMMVRRMGRVPGIKFSKEKTT
WVDVVNRRLVVEKCGSTPSDTSSEDGVRRIVHLYTTSDDFCLGFNIRGGKEFGLGIYVSK
VDHGGLAEENGIKVGDQVLAANGVRFDDISHSQAVEVLKGQTHIMLTIKETGRYPAYKEM
VSEYCWLDRLSNGVLQQLSPASESSSSVSSCASSAPYSSGSLPSDRMDICLGQEEPGSRG
PGWGRADTAMQTEPDAGGRVETWCSVRPTVILRDTAIRSDGPHPGRRLDSALSESPKTAL
LLALSRPRPPITRSQSYLTLWEEKQQRKKEKSGSPGEKGALQRSKTLMNLFFKGGRQGRL
ARDGRREAWTLDSGSLAKTYPRLDIEKAGGVGPVQKFVTWRLRRDQERGRALLSARSGSP
SSQLPNVDEQVQAWESRRPLIQDLAQRLLTDDEVLAVTRHCSRYVHEGGIEDLVRPLLAI
LDRPEKLLLLQDIRSVVAPTDLGRFDSMVMLVELEAFEALKSRAVRPPALRPARQDTPPK
RHLITPVPDSRGGFYLLPVNGFPEEEDNGELRERLGALKVSPSASAPRHPHKGIPPLQDV
PVDAFTPLRIACTPPPQLPPVAPRPLRPNWLLTEPLSREHPPQSQIRGRAQSRSRSRSRS
RSRSSRGQGKSPGRRSPSPVPTPAPSMTNGRYHKPRKARPPLPRPLDGEAAKVGAKQGPS
ESGTEGTAKEAAMKNPSGELKTVTLSKMKQSLGISISGGIESKVQPMVKIEKIFPGGAAF
LSGALQAGFELVAVDGENLEQVTHQRAVDTIRRAYRNKAREPMELVVRVPGPSPRPSPSD
SSALTDGGLPADHLPAHQPLDAAPVPAHWLPEPPTNPQTPPTDARLLQPTPSPAPSPALQ
TPDSKPAPSPRIP

Sequence length

1033

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hearing Loss	Hearing loss, autosomal recessive 57, Hearing loss, autosomal recessive	rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs587776894	N/A
Usher Syndrome	Usher syndrome type 2C, Usher syndrome type 2A	rs148695069, rs587776894, rs1564634581	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
hearing impairment	Hearing impairment	N/A	N/A	ClinVar
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (10)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Deafness	Associate	26416264, 32048449, 35248088
Deafness Autosomal Recessive	Associate	28173822
Hearing Loss	Associate	26416264, 31454969, 35248088, 35715776
Hearing Loss Sensorineural	Associate	31454969
Nonsyndromic sensorineural hearing loss	Associate	28173822, 29048736, 33530996, 35715776
Retinal Diseases	Associate	20440071
Retinitis Pigmentosa	Associate	20440071, 32050993
Usher syndrome type 1C	Associate	20440071
Usher Syndrome Type IF	Associate	31454969
Usher Syndromes	Associate	20440071, 25404053

PDZD7 (PDZ domain containing 7)