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

Gene ID: 90167, updated on 3-Apr-2024

Summary

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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
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Genomic context

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See FRMD7 in Genome Data Viewer
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_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 514 Neighboring gene Sharpr-MPRA regulatory region 3545 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:131156878-131157424 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:131157425-131157972 Neighboring gene serine/threonine kinase 26 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21004 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:131253207-131254142 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:131295346-131295904 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:131295905-131296461 Neighboring gene AGK pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21005 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21006 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29971 Neighboring gene RAP2C antisense RNA 1 Neighboring gene RAP2C, member of RAS oncogene family

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus. Lee J, et al. Transl Vis Sci Technol, 2022 Jun 1. PMID 35762937, Free PMC Article
  2. Correlations of FRMD7 gene mutations with ocular oscillations. Huang L, et al. Sci Rep, 2022 Jun 15. PMID 35705619, Free PMC Article
  3. Next-generation sequencing identifies a novel frameshift variant in FRMD7 in a Chinese family with idiopathic infantile nystagmus. Wang F, et al. J Clin Lab Anal, 2020 Jan. PMID 31495972, Free PMC Article
  4. Clinical and molecular findings of FRMD7 related congenital nystagmus as adifferential diagnosis of ocular albinism. Michaud V, et al. Ophthalmic Genet, 2019 Apr. PMID 30942644
  5. A Disease-Causing FRMD7 Variant in a Chinese Family with Infantile Nystagmus. Wu S, et al. J Mol Neurosci, 2019 Mar. PMID 30618027

See all (62) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. Correlations of FRMD7 gene mutations with ocular oscillations.
    Title: Correlations of FRMD7 gene mutations with ocular oscillations.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ43346

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 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

  1. NG_012347.1 RefSeqGene

    Range
    5001..56037
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_867

mRNA and Protein(s)

  1. 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)

  2. 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

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    132076990..132128020 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    X6R7S7

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

    UniProtKB/TrEMBL
    X6R7S7

  3. 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

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    130401223..130452253 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZUT3.1 GenPept UniProtKB/Swiss-Prot:Q6ZUT3

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