PDZD8 - PDZ domain containing 8 Gene

Homo sapiens

Also known as PDZK8; IDDADF

Gene ID: 118987 | Gene type: protein coding

About PDZD8

Cytogenetic location: 10q25.3-q26.11 Genomic coordinates (GRCh38): 10:117,277,274-117,375,440 (from NCBI)

This gene has 4 transcripts (splice variants) and 207 orthologues. Broad expression in bone marrow (RPKM 51.5), testis (RPKM 17.7) and 24 other tissues.

Summary

Predicted to enable lipid binding activity and metal ion binding activity. Involved in several processes, including mitochondrial calcium ion homeostasis; mitochondrion-endoplasmic reticulum membrane tethering; and regulation of cell morphogenesis. Located in endoplasmic reticulum membrane and mitochondria-associated endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

PDZD8 Products(1)

mRNA	Protein	Name
NM_173791.5	NP_776152.1	PDZ domain-containing protein 8

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	34237247	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	21834987	GOA
involved in mitochondrial calcium ion homeostasis	IDA IDA: Inferred from direct assay	29097544	GOA
involved in mitochondrion-endoplasmic reticulum membrane tethering	IDA IDA: Inferred from direct assay	29097544	GOA
involved in regulation of cell morphogenesis	IMP IMP: Inferred from mutant phenotype	21834987	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	29097544	GOA
located in mitochondria-associated endoplasmic reticulum membrane contact site	IDA IDA: Inferred from direct assay	29097544	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

PDZD8 Protein Structure

PDZ_2

C1_1

0
200
400
600
800
1000
1154 a.a.

Protein Preferred Names

Protein Names

PDZ domain-containing protein 8

sarcoma antigen NY-SAR-84/NY-SAR-104

Related Diseases

Diseases

Alias

Intellectual Developmental Disorder With Autism And Dysmorphic Facies

IDDADF

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect Pre-designed Sets	Purity	Rare Diseases Unkown
HY-RS10304	PDZD8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PDZD8	VGNC	VGNC:64104
Mus musculus	PDZD8	MGD	MGI:2677270
Bos taurus	PDZD8	VGNC	VGNC:32728
Macaca mulatta	PDZD8	VGNC	VGNC:106086
Rattus norvegicus	PDZD8	RGD	RGD:1308622
Canis familiaris	PDZD8	VGNC	VGNC:44402

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