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

    Gene ID: 90167, updated on 13-Aug-2016
    Official Symbol
    FRMD7provided by HGNC
    Official Full Name
    FERM domain containing 7provided by HGNC
    Primary source
    HGNC:HGNC:8079
    See related
    Ensembl:ENSG00000165694 HPRD:06624; MIM:300628; Vega:OTTHUMG00000022421
    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
    Mutations in this gene are associated with X-linked congenital nystagmus. [provided by RefSeq, Dec 2008]
    Orthologs
    Location:
    Xq26.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (132076986..132128022, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (131211021..131262050, complement)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 514 Neighboring gene serine/threonine protein kinase 26 Neighboring gene acylglycerol kinase pseudogene Neighboring gene RAP2C antisense RNA 1 Neighboring gene RAP2C, member of RAS oncogene family

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Infantile nystagmus, X-linked Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2013-05-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2013-05-23)

    ClinGen Genome Curation PagePubMed

    Markers

    Homology

    Clone Names

    • FLJ43346

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    molecular_function ND
    No biological Data available
    more info
     
    Process Evidence Code Pubs
    negative regulation of protein binding IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of stress fiber assembly IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of lamellipodium assembly IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of neuron projection development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular space IDA
    Inferred from Direct Assay
    more info
    PubMed 
    growth cone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuron projection ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    FERM domain-containing protein 7

    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_001306193.1NP_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/Swiss-Prot
      Q6ZUT3
      Related
      ENSP00000417996, OTTHUMP00000215109, ENST00000464296, OTTHUMT00000355032
      Conserved Domains (5) summary
      smart00295
      Location:3177
      B41; Band 4.1 homologues
      cd13193
      Location:164284
      FERM_C_FARP1-like; FERM domain C-lobe of FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins
      pfam00373
      Location:73177
      FERM_M; FERM central domain
      pfam08736
      Location:279312
      FA; FERM adjacent (FA)
      pfam09379
      Location:668
      FERM_N; FERM N-terminal domain
    2. NM_194277.2NP_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, AL161984, BC114371
      Consensus CDS
      CCDS35397.1
      UniProtKB/Swiss-Prot
      Q6ZUT3
      Related
      ENSP00000298542, OTTHUMP00000215108, ENST00000298542, OTTHUMT00000355031
      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: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      132076986..132128022 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017029948.1XP_016885437.1  

    2. XM_017029947.1XP_016885436.1  

    3. XM_017029949.1XP_016885438.1  

      Related
      ENSP00000359916, OTTHUMP00000024035, ENST00000370879, OTTHUMT00000058309

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      131122591..131173623 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)