Gene

pdzd8

ID
ZDB-GENE-110310-2
Name
PDZ domain containing 8
Symbol
pdzd8 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 17 Mapping Details/Browsers
Description
Predicted to enable lipid binding activity and metal ion binding activity. Predicted to be involved in mitochondrial calcium ion homeostasis and mitochondrion-endoplasmic reticulum membrane tethering. Predicted to act upstream of or within lipid transport. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in mitochondria-associated endoplasmic reticulum membrane contact site. Orthologous to human PDZD8 (PDZ domain containing 8).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
sa36405Allele with one point mutationUnknownPremature StopENU
Zebrafish International Resource Center (ZIRC) (order this)
European Zebrafish Resource Center (EZRC) (order this)
sa36406Allele with one point mutationUnknownPremature StopENU
Zebrafish International Resource Center (ZIRC) (order this)
European Zebrafish Resource Center (EZRC) (order this)
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Sequence Targeting Reagents
No data available
Human Disease
Associated With pdzd8 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Intellectual developmental disorder with autism and dysmorphic facies 620021
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Associated With pdzd8 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001478 PDZ domain
Domain IPR002219 Protein kinase C-like, phorbol ester/diacylglycerol-binding domain
Domain IPR019411 MMM1 domain
Domain IPR031468 Synaptotagmin-like mitochondrial-lipid-binding domain
Domain IPR041489 PDZ domain 6
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Domain Details Per Protein
Protein Length C1-like domain superfamily MMM1 domain PDZ domain PDZ domain 6 PDZ domain-containing protein 8 PDZ superfamily Protein kinase C-like, phorbol ester/diacylglycerol-binding domain Synaptotagmin-like mitochondrial-lipid-binding domain
UniProtKB:E7F7C3
InterPro
1180
UniProtKB:A0A8M9Q6M1
InterPro
1180
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 17
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA pdzd8-201 (1)
Ensembl
Ensembl 6,037 nt
ZFIN BLAST
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-7N14ZFIN Curated Data
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Sequences
Type Accession # Sequence Length (nt/aa) Analysis
RNARefSeq:XM_684682 (1)5825 nt
ZFIN BLASTNCBI BLASTEnsemblUCSC BLAT
GenomicGenBank:BX088545 (1)156881 nt
MegaBLASTEnsembl
PolypeptideUniProtKB:A0A8M9Q6M1 (1)1180 aa
ZFIN BLASTSIB BLASTEnsembl Protein Blast
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanPDZD810
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
MousePdzd819
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Citations
TSV
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