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

Gene ID: 90167, updated on 12-Oct-2019

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
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]
Expression
Low expression observed in reference dataset See more
Orthologs

Genomic context

See FRMD7 in Genome Data Viewer
Location:
Xq26.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (132074926..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 firre intergenic repeating RNA element Neighboring gene PNKD pseudogene 1 Neighboring gene RNA, 5S ribosomal pseudogene 514 Neighboring gene serine/threonine kinase 26 Neighboring gene acylglycerol kinase pseudogene 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
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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ43346

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT Rac guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 HDA 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
 

General protein information

Preferred Names
FERM domain-containing protein 7

NCBI Reference Sequences (RefSeq)

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
    ENSP00000417996.1, ENST00000464296.1
    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
    ENSP00000298542.3, ENST00000298542.8
    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 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    132074926..132128022 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017029948.2XP_016885437.1  FERM domain-containing protein 7 isoform X2

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

  3. XM_017029949.2XP_016885438.1  FERM domain-containing protein 7 isoform X3

    Related
    ENSP00000359916.1, ENST00000370879.5
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