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

Gene ID: 90167, updated on 13-Jan-2015
Official Symbol
FRMD7provided by HGNC
Official Full Name
FERM domain containing 7provided by HGNC
Primary source
HGNC:HGNC:8079
Locus tag
RP6-213H19.2
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
See FRMD7 in Epigenomics, MapViewer
Location:
Xq26.2
Exon count:
12
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) X NC_000023.11 (132076993..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
X-linked infantile nystagmus 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
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
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 

    Range
    5001..56030
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_194277.2NP_919253.1  FERM domain-containing protein 7

    See proteins identical to NP_919253.1

    Status: REVIEWED

    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, RhoGEF and pleckstrin domain-containing protein 1 and related proteins FERM domain
    pfam00373
    Location:89192
    FERM_M; FERM central domain
    pfam08736
    Location:294336
    FA; FERM adjacent (FA)
    pfam09379
    Location:683
    FERM_N; FERM N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000023.11 

    Range
    132076993..132128022
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262493.1XP_005262550.1  

    See proteins identical to XP_005262550.1

    UniProtKB/Swiss-Prot
    Q6ZUT3
    Related
    ENSP00000359916, OTTHUMP00000024035, ENST00000370879, OTTHUMT00000058309
    Conserved Domains (5) summary
    smart00295
    Location:3177
    B41; Band 4.1 homologues
    cd13193
    Location:164284
    FERM_C_FARP1-like; FERM, RhoGEF and pleckstrin domain-containing protein 1 and related proteins FERM domain
    pfam00373
    Location:74177
    FERM_M; FERM central domain
    pfam08736
    Location:279321
    FA; FERM adjacent (FA)
    pfam09379
    Location:688
    FERM_N; FERM N-terminal domain

Alternate CHM1_1.1

Genomic

  1. NC_018934.2 

    Range
    131122598..131173623
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000155.1 

    Range
    120615465..120666154
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)