Pdzd8 MGI Mouse Gene Detail - MGI:2677270

Symbol

Pdzd8
Name

PDZ domain containing 8
Synonyms

A630041P07Rik, Pdzk8

Feature Type

protein coding gene
IDs

MGI:2677270
NCBI Gene: 107368
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr19:59285610-59334212 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 54.65 cM
Mapping Data

1 experiment

SNPs within 2kb

917 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2677270	protein coding gene	Chr19:59284516-59334212 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0025288	protein coding gene	Chr19:59808859-59862599 (-)
A/J	MGP_AJ_G0025264	protein coding gene	Chr19:56891040-56940236 (-)
AKR/J	MGP_AKRJ_G0025233	protein coding gene	Chr19:58657184-58706355 (-)
BALB/cJ	MGP_BALBcJ_G0025259	protein coding gene	Chr19:56955889-57006109 (-)
C3H/HeJ	MGP_C3HHeJ_G0025019	protein coding gene	Chr19:58913843-58963026 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025702	protein coding gene	Chr19:61251090-61302973 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0023114	protein coding gene	Chr19:55770922-55826079 (-)
CAST/EiJ	MGP_CASTEiJ_G0024484	protein coding gene	Chr19:59004898-59055172 (-)
CBA/J	MGP_CBAJ_G0024999	protein coding gene	Chr19:64248974-64298871 (-)
DBA/2J	MGP_DBA2J_G0025131	protein coding gene	Chr19:56652896-56702682 (-)
FVB/NJ	MGP_FVBNJ_G0025092	protein coding gene	Chr19:56380163-56429877 (-)
LP/J	MGP_LPJ_G0025217	protein coding gene	Chr19:59682553-59732395 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0025125	protein coding gene	Chr19:63459482-63513338 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025760	protein coding gene	Chr19:58903707-58955369 (-)
PWK/PhJ	MGP_PWKPhJ_G0024232	protein coding gene	Chr19:56650912-56700518 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0024035	protein coding gene	Chr19:57557324-57609184 (-)
WSB/EiJ	MGP_WSBEiJ_G0024554	protein coding gene	Chr19:59012279-59061672 (-)

Human Ortholog

PDZD8, PDZ domain containing 8

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PDZD8, PDZ domain containing 8
Synonyms

IDDADF, PDZK8
Links

HGNC:26974

NCBI Gene ID: 118987

UniProt: Q8NEN9
Chr Location

10q25.3-q26.11; chr10:117277274-117375440 (-) GRCh38

MGI Vertebrate Homology

Pdzd8 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: PDZD8
Gene Tree

Pdzd8

less

Phenotype Summary

30 phenotypes from 1 allele in 2 genetic backgrounds
17 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

8
Endonuclease-mediated

4
Gene trapped

1
Targeted

3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

61 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit preweaning lethality, decreased body weight, reduced brain volume, altered brain structures, increased vertical stereotypic behavior, decreased anxiety-related response, reduced long term spatial reference memory, reduced long term potentiation, and decreased paired-pulse facilitation

less

All GO Annotations

9
GO References

2

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

less

Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

769
Tissues

42
cDNA Data

11
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pdzd8

less

All Sequences

41
RefSeq

3
UniProt

1
CCDS

CCDS29936.1

Ensembl

ENSMUSG00000074746 (Evidence)
NCBI Gene

107368

			Length	Strain/Species	Flank
genomic	ENSMUSG00000074746	Ensembl Gene Model \| MGI Sequence Detail	48603	C57BL/6J	± kb
transcript	ENSMUST00000099274	Ensembl \| MGI Sequence Detail	5982	Not Applicable
polypeptide	ENSMUSP00000096880	Ensembl \| MGI Sequence Detail	1147	Not Applicable

less

UniProt

1 Sequence
Protein Ontology

PR:000029670 PDZ domain-containing protein 8

(term hierarchy)
InterPro Domains

IPR046349 C1-like domain superfamily

IPR001478 PDZ domain

IPR041489 PDZ domain 6

IPR039275 PDZ domain-containing protein 8

IPR036034 PDZ superfamily

IPR002219 Protein kinase C-like, phorbol ester/diacylglycerol-binding domain

IPR031468 Synaptotagmin-like mitochondrial-lipid-binding domain
GlyGen

B9EJ80 2 sites, 1 N-linked glycan (1 site)

less

All nucleic 14

Genomic 1

cDNA 13

Microarray probesets 3

less

MGI:2147681, MGI:2147724

Summaries

All 45

Developmental Gene Expression 2

Gene Ontology 2

Phenotypes 17
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

J:362086 Pantiru AD, et al., Autistic behavior is a common outcome of biallelic disruption of PDZD8 in humans and mice. Mol Autism. 2025 Feb 27;16(1):14

TSS for Pdzd8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr160012	Chr19:59334178-59334285 (-)	-20 bp
Tssr160011	Chr19:59333970-59333990 (-)	232 bp
Tssr160010	Chr19:59333656-59333668 (-)	550 bp
Tssr160009	Chr19:59302387-59302389 (-)	31,824 bp
Tssr160008	Chr19:59289845-59289888 (-)	44,345 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 03/25/2025 MGI 6.24