FRMD7 FERM domain containing 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: FRMD7provided by HGNC
Official Full Name: FERM domain containing 7provided by HGNC
Primary source: HGNC:HGNC:8079
See related: Ensembl:ENSG00000165694 MIM:300628; AllianceGenome:HGNC:8079
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: NYS; NYS1; XIPAN
Summary: Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of neuron projection development. Predicted to act upstream of or within several processes, including negative regulation of stress fiber assembly; positive regulation of lamellipodium assembly; and positive regulation of small GTPase mediated signal transduction. Located in cytosol; nucleoplasm; and plasma membrane. Implicated in congenital nystagmus 1. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: Xq26.2

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (132076990..132128020, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (130401223..130452253, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (131211018..131262048, complement)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.
Title: Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications.
Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.
Title: Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus.
Correlations of FRMD7 gene mutations with ocular oscillations.
Title: Correlations of FRMD7 gene mutations with ocular oscillations.
Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus.
Title: Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus.
FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome.
Title: FRMD7 Mutations Disrupt the Interaction with GABRA2 and May Result in Infantile Nystagmus Syndrome.
By compiling all the published cases we discuss the variable penetrance among females due to different types of mutation and to X-inactivation.
Title: Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism.
A novel mutation of the FRMD7 gene occurred in a Chinese family with Infantile nystagmus , thus expanding the spectrum of FRMD7 mutations causing Infantile nystagmus , and further confirming that the mutations of FRMD7 are the underlying molecular cause of Infantile nystagmus.
Title: A novel frameshift mutation in FRMD7 causes X-linked infantile nystagmus in a Chinese family.
Results identified a novel mutation, c.498-3C > T, in FRMD7 which explains why X-Linked recessive inheritance of congenital nystagmus (CN) was found in a subset of patients with both CN and congenital cataract.
Title: X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.
The FERM domain-containing protein 7 (FRMD7) mutation was confirmed in all the affected individuals but was not detected in unaffected family members.
Title: Identification and functional characterization of a novel missense mutation in FRMD7 responsible for idiopathic congenital nystagmus.
FRMD7 c.47T>C (p.Phe16Ser) pathogenic variant was identified in a Chinese family with infantile nystagmus.
Title: A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus.

Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Nystagmus 1, congenital, X-linked MedGen: C1839580 OMIM: 310700 GeneReviews: FRMD7-Related Infantile Nystagmus	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-04-09) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-09) ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Frmd7 (e-PCR), detects polymorphism
- UniSTS:531214

AL023935 (e-PCR)
- UniSTS:31576

AL031253 (e-PCR)
- UniSTS:65136

DXS993 (e-PCR)
- UniSTS:57501

SHGC-83868 (e-PCR)
- UniSTS:101838

DXS6808 (e-PCR)
- UniSTS:18662

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of stress fiber assembly	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of lamellipodium assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of small GTPase mediated signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of neuron projection development	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular space	HDA more info	PubMed
located_in growth cone	ISS Inferred from Sequence or Structural Similarity more info
located_in neuron projection	ISS Inferred from Sequence or Structural Similarity more info
located_in neuronal cell body	ISS Inferred from Sequence or Structural Similarity more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: FERM domain-containing protein 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_012347.1 RefSeqGene

Range

5001..56037

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_867

mRNA and Protein(s)

NM_001306193.2 → NP_001293122.1 FERM domain-containing protein 7 isoform 2

See identical proteins and their annotated locations for NP_001293122.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

AI492387, AK125336, DB511321, FJ717411

Consensus CDS

CCDS78504.1

UniProtKB/TrEMBL

X6R7S7

Related

ENSP00000417996.1, ENST00000464296.1

Conserved Domains (4) summary

cd13193
Location:164 → 284

FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins

cd14473
Location:79 → 169

FERM_B-lobe; FERM domain B-lobe

cd17188
Location:1 → 87

FERM_F1_FRMD7; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 7 (FRMD7)

pfam08736
Location:279 → 312

FA; FERM adjacent (FA)
NM_194277.3 → NP_919253.1 FERM domain-containing protein 7 isoform 1

See identical proteins and their annotated locations for NP_919253.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL049792, AL109749, AL161984, BC114371

Consensus CDS

CCDS35397.1

UniProtKB/Swiss-Prot

C0LLJ3, Q5JX99, Q6ZUT3

UniProtKB/TrEMBL

X6R7S7

Related

ENSP00000298542.3, ENST00000298542.9

Conserved Domains (5) summary

smart00295
Location:3 → 192

B41; Band 4.1 homologues

cd13193
Location:179 → 299

FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins

pfam00373
Location:88 → 192

FERM_M; FERM central domain

pfam08736
Location:294 → 327

FA; FERM adjacent (FA)

pfam09379
Location:6 → 69

FERM_N; FERM N-terminal domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000023.11 Reference GRCh38.p14 Primary Assembly

Range

132076990..132128020 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017029948.3 → XP_016885437.1 FERM domain-containing protein 7 isoform X2

UniProtKB/TrEMBL

X6R7S7
XM_017029947.3 → XP_016885436.1 FERM domain-containing protein 7 isoform X1

UniProtKB/TrEMBL

X6R7S7
XM_017029949.3 → XP_016885438.1 FERM domain-containing protein 7 isoform X3

UniProtKB/TrEMBL

X6R7S7

Related

ENSP00000359916.1, ENST00000370879.5

Alternate T2T-CHM13v2.0

Genomic

NC_060947.1 Alternate T2T-CHM13v2.0

Range

130401223..130452253 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054328078.1 → XP_054184053.1 FERM domain-containing protein 7 isoform X2

UniProtKB/TrEMBL

X6R7S7
XM_054328077.1 → XP_054184052.1 FERM domain-containing protein 7 isoform X1

UniProtKB/TrEMBL

X6R7S7
XM_054328079.1 → XP_054184054.1 FERM domain-containing protein 7 isoform X3

UniProtKB/TrEMBL

X6R7S7