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

    Gene ID: 90167, updated on 27-Nov-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 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, Nov 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (132076990..132128020, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (130401223..130452253, complement)
    RS_2024_09 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. Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7. Thomas S, et al. Brain, 2008 May. PMID 18372314
    2. Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus. Song FW, et al. J Zhejiang Univ Sci B, 2013 Jun. PMID 23733424, Free PMC Article
    3. Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus. Radhakrishna U, et al. Eur J Hum Genet, 2012 Oct. PMID 22490987, Free PMC Article
    4. Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications. Su Y, et al. BMC Med Genomics, 2024 Jan 26. PMID 38279119, Free PMC Article
    5. A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family. Du W, et al. Mol Vis, 2011. PMID 22065930, Free PMC Article

    See all (63) 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)

    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
    NOT enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    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

      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

      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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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