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

    Gene ID: 90167, updated on 17-Jun-2024

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Nystagmus 1, congenital, X-linked 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    FERM domain-containing protein 7

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001306193.2NP_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:164284
      FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
      cd14473
      Location:79169
      FERM_B-lobe; FERM domain B-lobe
      cd17188
      Location:187
      FERM_F1_FRMD7; FERM (Four.1 protein, Ezrin, Radixin, Moesin) domain, F1 sub-domain, found in FERM domain-containing protein 7 (FRMD7)
      pfam08736
      Location:279312
      FA; FERM adjacent (FA)
    2. NM_194277.3NP_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:3192
      B41; Band 4.1 homologues
      cd13193
      Location:179299
      FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
      pfam00373
      Location:88192
      FERM_M; FERM central domain
      pfam08736
      Location:294327
      FA; FERM adjacent (FA)
      pfam09379
      Location:669
      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_017029948.3XP_016885437.1  FERM domain-containing protein 7 isoform X2

      UniProtKB/TrEMBL
      X6R7S7
    2. XM_017029947.3XP_016885436.1  FERM domain-containing protein 7 isoform X1

      UniProtKB/TrEMBL
      X6R7S7
    3. XM_017029949.3XP_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_054328078.1XP_054184053.1  FERM domain-containing protein 7 isoform X2

      UniProtKB/TrEMBL
      X6R7S7
    2. XM_054328077.1XP_054184052.1  FERM domain-containing protein 7 isoform X1

      UniProtKB/TrEMBL
      X6R7S7
    3. XM_054328079.1XP_054184054.1  FERM domain-containing protein 7 isoform X3

      UniProtKB/TrEMBL
      X6R7S7