Fgd1 MGI Mouse Gene Detail - MGI:104566 - FYVE, RhoGEF and PH domain containing 1

Symbol

Fgd1
Name

FYVE, RhoGEF and PH domain containing 1
Synonyms

faciogenital dysplasia, ZFYVE3

Feature Type

protein coding gene
IDs

MGI:104566
NCBI Gene: 14163
Alliance

gene page
Transcription Start Sites

10 TSS

Sequence Map

ChrX:149829146-149872517 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 68.46 cM
Mapping Data

1 experiment

SNPs within 2kb

646 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104566	protein coding gene	ChrX:149829141-149872682 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0036174	protein coding gene	ChrX:148774444-148821521 (+)
A/J	MGP_AJ_G0036150	protein coding gene	ChrX:147989288-148031799 (+)
AKR/J	MGP_AKRJ_G0036076	protein coding gene	ChrX:152772150-152816416 (+)
BALB/cJ	MGP_BALBcJ_G0036141	protein coding gene	ChrX:146180062-146223168 (+)
C3H/HeJ	MGP_C3HHeJ_G0035849	protein coding gene	ChrX:148983639-149030169 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0036666	protein coding gene	ChrX:152984019-153034000 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033490	protein coding gene	ChrX:139750312-139794776 (+)
CAST/EiJ	MGP_CASTEiJ_G0035140	protein coding gene	ChrX:128434248-128470118 (+)
CBA/J	MGP_CBAJ_G0035826	protein coding gene	ChrX:157533712-157577610 (+)
DBA/2J	MGP_DBA2J_G0035984	protein coding gene	ChrX:147067561-147115879 (+)
FVB/NJ	MGP_FVBNJ_G0035918	protein coding gene	ChrX:146213260-146256527 (+)
LP/J	MGP_LPJ_G0036075	protein coding gene	ChrX:149859674-149903854 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035954	protein coding gene	ChrX:165622742-165668020 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036701	protein coding gene	ChrX:148280963-148326183 (+)
PWK/PhJ	MGP_PWKPhJ_G0034834	protein coding gene	ChrX:125395430-125439634 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0034660	protein coding gene	ChrX:128884401-128926660 (+)
WSB/EiJ	MGP_WSBEiJ_G0035275	protein coding gene	ChrX:146382634-146428522 (+)

Human Ortholog

FGD1, FYVE, RhoGEF and PH domain containing 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

FGD1, FYVE, RhoGEF and PH domain containing 1
Synonyms

AAS, FGDY, MRXS16, ZFYVE3
Links

HGNC:3663

NCBI Gene ID: 2245

neXtProt AC: NX_P98174

UniProt: P98174
Chr Location

Xp11.22; chrX:54445454-54496234 (-) GRCh38

MGI Vertebrate Homology

Fgd1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: FGD1
Gene Tree

Fgd1

Diseases

2 with human FGD1 associations

				Human Disease	Mouse Models
				non-syndromic X-linked intellectual disability IDs non-syndromic X-linked intellectual disability DOID:0050776 OMIM:300716 OMIM:PS309530 ORDO:777
				X-linked Aarskog syndrome IDs X-linked Aarskog syndrome DOID:6683 ICD10CM:Q87.19 MESH:C535331 NCI:C129720 OMIM:305400 UMLS_CUI:C0175701

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

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Phenotype Summary

6 phenotypes from 1 allele in 1 genetic background
9 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

51
Endonuclease-mediated

2
Gene trapped

49
Incidental Mutations

APF
Find Mice (IMSR)

60 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

26
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.

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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

835
Tissues

58
cDNA Data

11
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase fgd1

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All Sequences

50
RefSeq

5
UniProt

5
CCDS

CCDS30467.1

Ensembl

ENSMUSG00000025265 (Evidence)
NCBI Gene

14163

			Length	Strain/Species	Flank
genomic	ENSMUSG00000025265	Ensembl Gene Model \| MGI Sequence Detail	43372	C57BL/6J	± kb
transcript	ENSMUST00000026296	Ensembl \| MGI Sequence Detail	4001	Not Applicable
polypeptide	ENSMUSP00000026296	Ensembl \| MGI Sequence Detail	960	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000007473 FYVE, RhoGEF and PH domain-containing protein 1

(term hierarchy)
InterPro Domains

IPR000219 Dbl homology (DH) domain

IPR035899 Dbl homology (DH) domain superfamily

IPR035941 FGD1-4, C-terminal PH domain

IPR035939 FGD1, N-terminal PH domain

IPR051092 FYVE, RhoGEF and PH domain-containing

IPR000306 FYVE zinc finger

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR017455 Zinc finger, FYVE-related

IPR013083 Zinc finger, RING/FYVE/PHD-type

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All nucleic 12

cDNA 11

Primer pair 1

Microarray probesets 5

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MGD-MRK-26000

Summaries

All 37

Developmental Gene Expression 5

Gene Ontology 7

Phenotypes 9
Earliest

J:26633 Pasteris NG, et al., Cloning and regional localization of the mouse faciogenital dysplasia (Fgd1) gene. Mamm Genome. 1995 Sep;6(9):658-61
Latest

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

TSS for Fgd1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr162321	ChrX:149829127-149829139 (+)	-13 bp
Tssr162322	ChrX:149829877-149829901 (+)	743 bp
Tssr162323	ChrX:149829908-149829929 (+)	773 bp
Tssr162324	ChrX:149829942-149829971 (+)	811 bp
Tssr162325	ChrX:149829975-149829989 (+)	836 bp
Tssr162326	ChrX:149830189-149830223 (+)	1,060 bp
Tssr162327	ChrX:149830306-149830323 (+)	1,169 bp
Tssr162328	ChrX:149830329-149830353 (+)	1,195 bp
Tssr162329	ChrX:149849738-149849749 (+)	20,598 bp
Tssr162330	ChrX:149855350-149855359 (+)	26,209 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