PDZD8 - PDZ domain containing 8 Gene

Also Known as PDZK8; IDDADF

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 118987

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
34237247 GOA
Biological Process GO Annotation Evidence References 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 References 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

PDZ_2: PDZ domain (385 - 447)

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (841 - 884)

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  • 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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS10304 PDZD8 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21687 Pdzd8 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS28205 Pdzd8 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others PDZD8 NCBI