Frmd7 MGI Mouse Gene Detail - MGI:2686379

Symbol

Frmd7
Name

FERM domain containing 7
Synonyms

EG665849, LOC385354

Feature Type

protein coding gene
IDs

MGI:2686379
NCBI Gene: 385354
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

ChrX:49984057-50031587 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 27.82 cM
Mapping Data

2 experiments

SNPs within 2kb

959 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2686379	protein coding gene	ChrX:49980044-50032493 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0035709	protein coding gene	ChrX:46040567-46090514 (-)
A/J	MGP_AJ_G0035692	protein coding gene	ChrX:45920058-45967926 (-)
AKR/J	MGP_AKRJ_G0035612	protein coding gene	ChrX:47177409-47234436 (-)
BALB/cJ	MGP_BALBcJ_G0035678	protein coding gene	ChrX:45511149-45562169 (-)
C3H/HeJ	MGP_C3HHeJ_G0035382	protein coding gene	ChrX:46314370-46362726 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0036207	protein coding gene	ChrX:47153567-47201172 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033059	protein coding gene	ChrX:43485658-43531252 (-)
CAST/EiJ	MGP_CASTEiJ_G0034673	protein coding gene	ChrX:33767002-33816947 (-)
CBA/J	MGP_CBAJ_G0035356	protein coding gene	ChrX:48440001-48500049 (-)
DBA/2J	MGP_DBA2J_G0035511	protein coding gene	ChrX:45749044-45797548 (-)
FVB/NJ	MGP_FVBNJ_G0035459	protein coding gene	ChrX:45453674-45501184 (-)
LP/J	MGP_LPJ_G0035598	protein coding gene	ChrX:46385695-46436265 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035498	protein coding gene	ChrX:49981668-50035703 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036225	protein coding gene	ChrX:45943481-45995166 (-)
PWK/PhJ	MGP_PWKPhJ_G0034372	protein coding gene	ChrX:33287572-33336526 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0034217	protein coding gene	ChrX:34550580-34604453 (-)
WSB/EiJ	MGP_WSBEiJ_G0034817	protein coding gene	ChrX:45491920-45544524 (-)

Human Ortholog

FRMD7, FERM domain containing 7

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

FRMD7, FERM domain containing 7
Synonyms

NYS, NYS1, XIPAN
Links

HGNC:8079

NCBI Gene ID: 90167

neXtProt AC: NX_Q6ZUT3

UniProt: Q6ZUT3
Chr Location

Xq26.2; chrX:132076990-132128020 (-) GRCh38

MGI Vertebrate Homology

Frmd7 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: FRMD7
Gene Tree

Frmd7

Diseases

1 with Frmd7 mouse models; 1 with human FRMD7 associations

Human Disease

Mouse Models

congenital nystagmus 1

IDs

View 2 models

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
11 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

2
Targeted

2
Find Mice (IMSR)

5 strains or lines available

Mice homozygous for a null allele lack an optokinetic reflex in the horizontal direction.

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All GO Annotations

19
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

759
Tissues

43
cDNA Data

3
Literature Summary

3

Images

Tissue x Stage Matrix

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase frmd7

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All Sequences

45
RefSeq

16
UniProt

2
CCDS

CCDS53067.1

Ensembl

ENSMUSG00000036131 (Evidence)
NCBI Gene

385354

			Length	Strain/Species	Flank
genomic	ENSMUSG00000036131	Ensembl Gene Model \| MGI Sequence Detail	47531	C57BL/6J	± kb
transcript	ENSMUST00000060650	Ensembl \| MGI Sequence Detail	2112	Not Applicable
polypeptide	ENSMUSP00000057103	Ensembl \| MGI Sequence Detail	703	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000007667 FERM domain-containing protein 7

(term hierarchy)
InterPro Domains

IPR019749 Band 4.1 domain

IPR041788 FARP1/FARP2/FRMD7, FERM domain C-lobe

IPR014352 FERM/acyl-CoA-binding protein superfamily

IPR014847 FERM adjacent

IPR019748 FERM central domain

IPR019747 FERM conserved site

IPR018980 FERM, C-terminal PH-like domain

IPR000299 FERM domain

IPR018979 FERM, N-terminal

IPR035963 FERM superfamily, second domain

IPR011993 PH-like domain superfamily

IPR051835 RAC1-specific guanine nucleotide exchange factor

IPR029071 Ubiquitin-like domain superfamily

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All nucleic 5

cDNA 3

Primer pair 2

Microarray probesets 1

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MGI:3643612

Summaries

All 34

Developmental Gene Expression 3

Diseases 1

Gene Ontology 7

Phenotypes 11
Earliest

J:155331 Betts-Henderson J, et al., The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development. Hum Mol Genet. 2010 Jan 15;19(2):342-51
Latest

J:351463 Mullner FE, et al., Individual thalamic inhibitory interneurons are functionally specialized toward distinct visual features. Neuron. 2024 Jun 24;

TSS for Frmd7:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr163319	ChrX:50032480-50032499 (-)	-903 bp
Tssr163318	ChrX:50031679-50031686 (-)	-96 bp
Tssr163317	ChrX:50031639-50031650 (-)	-58 bp
Tssr163316	ChrX:50031616-50031635 (-)	-39 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