Frmpd4 MGI Mouse Gene Detail - MGI:3042378 - FERM and PDZ domain containing 4

Symbol

Frmpd4
Name

FERM and PDZ domain containing 4
Synonyms

LOC237234, Pdzd10, Pdzk10, PKAP1, Preso, Preso1

Feature Type

protein coding gene
IDs

MGI:3042378
NCBI Gene: 333605
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

ChrX:166254305-167360227 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 78.36 cM
Mapping Data

2 experiments

SNPs within 2kb

23136 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3042378	protein coding gene	ChrX:166254297-167360230 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0036273	protein coding gene	ChrX:165640334-166780689 (-)
A/J	MGP_AJ_G0036242	protein coding gene	ChrX:164780058-165914740 (-)
AKR/J	MGP_AKRJ_G0036172	protein coding gene	ChrX:170057923-171221825 (-)
BALB/cJ	MGP_BALBcJ_G0036237	protein coding gene	ChrX:162727901-163881659 (-)
C3H/HeJ	MGP_C3HHeJ_G0035944	protein coding gene	ChrX:165955436-167088106 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0036760	protein coding gene	ChrX:170460701-171618455 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033580	protein coding gene	ChrX:155572987-156632876 (-)
CAST/EiJ	MGP_CASTEiJ_G0035231	protein coding gene	ChrX:144832812-145950076 (-)
CBA/J	MGP_CBAJ_G0035918	protein coding gene	ChrX:175422220-176612967 (-)
DBA/2J	MGP_DBA2J_G0036084	protein coding gene	ChrX:163582663-164682304 (-)
FVB/NJ	MGP_FVBNJ_G0036016	protein coding gene	ChrX:162729108-163820833 (-)
LP/J	MGP_LPJ_G0036169	protein coding gene	ChrX:166717946-167870100 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0036048	protein coding gene	ChrX:184098119-185334804 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036799	protein coding gene	ChrX:165102032-166238905 (-)
PWK/PhJ	MGP_PWKPhJ_G0034930	protein coding gene	ChrX:141557098-142679223 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0034749	protein coding gene	ChrX:145380605-145659202 (-)
WSB/EiJ	MGP_WSBEiJ_G0035367	protein coding gene	ChrX:162940910-164049586 (-)

Human Ortholog

FRMPD4, FERM and PDZ domain containing 4

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

FRMPD4, FERM and PDZ domain containing 4
Synonyms

MRX104, PDZD10, PDZK10, XLID104
Links

HGNC:29007

NCBI Gene ID: 9758

neXtProt AC: NX_Q14CM0

UniProt: Q14CM0
Chr Location

Xp22.2; chrX:11822423-12724523 (+) GRCh38

MGI Vertebrate Homology

Frmpd4 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: FRMPD4
Gene Tree

Frmpd4

Diseases

1 with human FRMPD4 associations

				Human Disease	Mouse Models
				non-syndromic X-linked intellectual disability 104 IDs non-syndromic X-linked intellectual disability 104 DOID:0112018 OMIM:300983

Click on a disease name to see all genes associated with that disease.

less

Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
8 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

2
Gene trapped

2
Targeted

4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

16 strains or lines available

Mice homozygous for a knock-out allele exhibit increased inflammation-induced pain and thermal pain in a chronic pain model.

less

All GO Annotations

15
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

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

757
Tissues

5
cDNA Data

10
Literature Summary

4

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase frmpd4

less

All Sequences

73
RefSeq

27
UniProt

4
CCDS

CCDS41210.1, CCDS72470.1, CCDS90773.1, CCDS90774.1

Ensembl

ENSMUSG00000049176 (Evidence)
NCBI Gene

333605

			Length	Strain/Species	Flank
genomic	ENSMUSG00000049176	Ensembl Gene Model \| MGI Sequence Detail	1105923	C57BL/6J	± kb
transcript	ENSMUST00000238709	Ensembl \| MGI Sequence Detail	5337	Not Applicable
polypeptide	ENSMUSP00000158713	Ensembl \| MGI Sequence Detail	1778	Not Applicable

less

UniProt

4 Sequences
Protein Ontology

PR:000032827 FERM and PDZ domain-containing protein 4

(term hierarchy)
InterPro Domains

IPR019749 Band 4.1 domain

IPR049385 FAK1-like, FERM domain C-lobe

IPR014352 FERM/acyl-CoA-binding protein superfamily

IPR041779 FERM and PDZ domain-containing protein 1/3/4, FERM domain C-lobe

IPR019748 FERM central domain

IPR000299 FERM domain

IPR035963 FERM superfamily, second domain

IPR001478 PDZ domain

IPR036034 PDZ superfamily

IPR011993 PH-like domain superfamily

IPR029071 Ubiquitin-like domain superfamily

IPR001202 WW domain

IPR036020 WW domain superfamily

less

All nucleic 10

cDNA 10

Microarray probesets 1

less

MGI:2685042

Summaries

All 35

Developmental Gene Expression 4

Gene Ontology 7

Phenotypes 8
Earliest

J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
Latest

J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Frmpd4:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr164628	ChrX:167202654-167202659 (-)	157,570 bp
Tssr164627	ChrX:167132226-167132252 (-)	227,988 bp
Tssr164626	ChrX:166907340-166907371 (-)	452,871 bp
Tssr164625	ChrX:166907313-166907336 (-)	452,902 bp
Tssr164624	ChrX:166906307-166906330 (-)	453,908 bp
Tssr164623	ChrX:166906252-166906263 (-)	453,969 bp
Tssr164622	ChrX:166905908-166905950 (-)	454,298 bp
Tssr164621	ChrX:166834283-166834286 (-)	525,942 bp
Tssr164620	ChrX:166749631-166749634 (-)	610,594 bp
Tssr164619	ChrX:166638057-166638077 (-)	722,160 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 12/10/2024 MGI 6.24