Seroatlas · Human Serome Atlas

FRMD7

FERM domain-containing protein 7

Also known as: FLJ43346, FRMD7_HUMAN, NYS, NYS1

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q6ZUT3
Gene
FRMD7
Ensembl
ENSG00000165694
Chromosome
X
Canonical length
714 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Transporters
Subcellular location
Nucleoplasm,Plasma membrane,Cytosol

OverviewNCBI Gene

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, Jul 2025]

Canonical amino-acid sequenceUniProt

714 residues, UniProt reviewed canonical sequence.

>Q6ZUT3|FRMD7
     1  MLHLKVQFLD DSQKIFVVDQ KSSGKALFNL SCSHLNLAEK EYFGLEFCSH SGNNVWLELL
    61  KPITKQVKNP KEIVFKFMVK FFPVDPGHLR EELTRYLFTL QIKKDLALGR LPCSDNCTAL
   121  MVSHILQSEL GDFHEETDRK HLAQTRYLPN QDCLEGKIMH FHQKHIGRSP AESDILLLDI
   181  ARKLDMYGIR PHPASDGEGM QIHLAVAHMG VLVLRGNTKI NTFNWAKIRK LSFKRKHFLI
   241  KLHANILVLC KDTLEFTMAS RDACKAFWKT CVEYHAFFRL SEEPKSKPKT LLCSKGSSFR
   301  YSGRTQRQLL EYGRKGRLKS LPFERKHYPS QYHERQCRSS PDLLSDVSKQ VEDLRLAYGG
   361  GYYQNVNGVH ASEPVLESRR RNSALEVTFA TELEHSKPEA DPTLLHQSQS SSSFPFIYMD
   421  PVFNTEPNPN PDPRDIFSER SSLSSFQTSC KFSGNHMSIY SGLTSKVRPA KQLTYTDVPY
   481  IPCTGQQVGI MPPQVFFYVD KPPQVPRWSP IRAEERTSPH SYVEPTAMKP AERSPRNIRM
   541  KSFQQDLQVL QEAIARTSGR SNINVGLEEE DPNLEDAFVC NIQEQTPKRS QSQSDMKTIR
   601  FPFGSEFRPL GPCPALSHKA DLFTDMFAEQ ELPAVLMDQS TAERYVASES SDSESEILKP
   661  DYYALYGKEI RSPMARIRLS SGSLQLDEED EDAYFNTPTA EDRTSLKPCN YFLA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FRMD7 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.49
Highest tissue expression
2.6 nTPM

Expression across tissuesHPA

Tissue

  • endometrium: 2.6 nTPM
  • kidney: 2.5 nTPM
  • smooth muscle: 2.1 nTPM
  • fallopian tube: 0.8 nTPM
  • blood vessel: 0.6 nTPM
  • cervix: 0.4 nTPM

Single-cell type

  • renal collecting duct intercalated cells: 6.6 nCPM
  • distal convoluted tubule cells: 2.8 nCPM
  • thymocytes: 2.5 nCPM
  • epicardial cells: 2.3 nCPM
  • cardiomyocytes: 1.6 nCPM
  • brain inhibitory neurons: 1.2 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • midbrain: 0.8 nTPM
  • hypothalamus: 0.7 nTPM
  • cerebellum: 0.4 nTPM
  • hippocampal formation: 0.4 nTPM
  • medulla oblongata: 0.4 nTPM
  • basal ganglia: 0.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FRMD7.

Disease | AllUniProt

Conditions FRMD7 is implicated in, by any mechanism.

  • Nystagmus 1, congenital, X-linked (NYS1) MIM:310700

Disease | GeneticClinVar

60 pathogenic / likely-pathogenic of 513 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.42
gnomAD pLI
0.73
gnomAD missense Z
0.7
DepMap mean gene effect
-0.02
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FRMD7 as an antibody target. Whether an autoantibody or antibody against FRMD7 could matter depends on whether native FRMD7 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FRMD7 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label FRMD7 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FRMD7. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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