PDZD7 - PDZ domain containing 7 Gene

Also Known as PDZK7; DFNB57

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79955

About PDZD7

Cytogenetic location: 10q24.31 Genomic coordinates (GRCh38): 10:101,007,679-101,031,129 (from NCBI)

This gene has 9 transcripts (splice variants), 150 orthologues, 2 paralogues and is associated with 5 phenotypes. Broad expression in small intestine (RPKM 3.0), duodenum (RPKM 1.7) and 20 other tissues.

Summary

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 different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]

PDZD7 Products (3)

mRNA	Protein	Name
NM_001195263.2	NP_001182192.1	PDZ domain-containing protein 7 isoform 1
NM_001351044.2	NP_001337973.1	PDZ domain-containing protein 7 isoform 3
NM_024895.5	NP_079171.1	PDZ domain-containing protein 7 isoform 2

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	19028668	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cilium	IDA IDA: Inferred from direct assay	20440071	GOA
located in nucleus	IDA IDA: Inferred from direct assay	20440071	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PDZD7 Protein Structure

PDZ

0
100
200
300
400
517 a.a.

Protein Preferred Names	Protein Names
PDZ domain-containing protein 7	deafness, autosomal recessive 57

PDZD7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PDZD7	Q9H5P4	ADGRV1	Homo sapiens	Q8WXG9	Y2H	20440071
Intra	PDZD7	Q9H5P4	ADGRV1	Homo sapiens	Q8WXG9	Anti Tag CoIP	20440071
Intra	PDZD7	Q9H5P4	USH2A	Homo sapiens	O75445	Anti Tag CoIP	20440071

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Deafness, Autosomal Recessive 57	DFNB57 Autosomal Recessive Nonsyndromic Deafness 57 Autosomal Recessive Deafness 57 Deafness, Autosomal Recessive, 57 Deafness, Autosomal Recessive, Type 57
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
Usher Syndrome, Type Iic	Usher Syndrome Type 2c USH2C Usher Syndrome, Type 2c Usher Syndrome, Type Iic, Gpr98/Pdzd7 Digenic Usher Syndrome Type Iic Usher Syndrome, Type 2c, Gpr98/Pdzd7 Digenic Usher Syndrome 2c Usher'S Syndrome Type 2c Usher Syndrome Type Iic Gpr98/Pdzd7 Digenic
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Leber Congenital Amaurosis With Early-Onset Deafness	LCAEOD
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Deafness, Autosomal Recessive 31	DFNB31 Whirler, Mouse, Homolog Of Autosomal Recessive Nonsyndromic Deafness 31 Autosomal Recessive Deafness 31 Deafness, Autosomal Recessive, 31 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 31 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 31 Deafness, Autosomal Recessive, Type 31
Deafness, Autosomal Dominant 11	DFNA11 Autosomal Dominant Nonsyndromic Deafness 11 Autosomal Dominant Deafness 11 Deafness, Autosomal Dominant, 11 Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 11 Deafness, Autosomal Dominant, Type 11
Usher Syndrome, Type Iiia	Usher Syndrome Type 3 Ush3 Usher Syndrome Type 3a USH3A Usher Syndrome, Type Iii Usher Syndrome, Type 3 Usher Syndrome, Type 3a Usher Syndrome Type Iiia Usher Syndrome 3a Usher'S Syndrome Type 3 Usher Syndrome Iii Usher Syndrome Type Iii
Deafness, Autosomal Recessive 2	DFNB2 Neurosensory Nonsyndromic Recessive Deafness 2 Nsrd2 Autosomal Recessive Nonsyndromic Deafness 2 Deafness, Autosomal Recessive, Type 2 Autosomal Recessive Deafness 2 Deafness, Autosomal Recessive, 2 Deafness Neurosensory Autosomal Recessive 2 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 2 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 2 Deafness, Autosomal Recessive 2, Neurosensory
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Pharc Syndrome PHARC Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Peripheral Neuropathy, Fiskerstrand Type Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract
Deafness, Autosomal Recessive 12	DFNB12 Deafness, Autosomal Recessive 12, Modifier Of Autosomal Recessive Nonsyndromic Deafness 12 Autosomal Recessive Deafness 12 Deafness, Autosomal Recessive, 12 Congenital Neurosensory Deafness Autosomal Recessive 12 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 Deafness, Autosomal Recessive, Type 12
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10303	PDZD7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22718	Pdzd7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29232	Pdzd7 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PDZD7	MGD	MGI:3608325
Rattus norvegicus	PDZD7	RGD	RGD:1309882
Felis catus	PDZD7	VGNC	VGNC:64103
Canis familiaris	PDZD7	VGNC	VGNC:53008
Others	PDZD7	NCBI