FRMD5
FERM domain-containing protein 5
Also known as: FRMD5_HUMAN, MGC14161
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q7Z6J6
- Gene
- FRMD5
- Ensembl
- ENSG00000171877
- Chromosome
- 15
- Canonical length
- 570 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins
OverviewNCBI Gene
Enables integrin binding activity and protein kinase binding activity. Involved in negative regulation of cell motility; positive regulation of cell adhesion; and regulation of cell migration. Located in adherens junction. Implicated in neurodevelopmental disorder with eye movement abnormalities and ataxia. [provided by Alliance of Genome Resources, Jul 2025]
Canonical amino-acid sequenceUniProt
570 residues, UniProt reviewed canonical sequence.
>Q7Z6J6|FRMD5
1 MLSRLMSGSS RSLEREYSCT VRLLDDSEYT CTIQRDAKGQ YLFDLLCHHL NLLEKDYFGI
61 RFVDPDKQRH WLEFTKSVVK QLRSQPPFTM CFRVKFYPAD PAALKEEITR YLVFLQIKRD
121 LYHGRLLCKT SDAALLAAYI LQAEIGDYDS GKHPEGYSSK FQFFPKHSEK LERKIAEIHK
181 TELSGQTPAT SELNFLRKAQ TLETYGVDPH PCKDVSGNAA FLAFTPFGFV VLQGNKRVHF
241 IKWNEVTKLK FEGKTFYLYV SQKEEKKIIL TYFAPTPEAC KHLWKCGIEN QAFYKLEKSS
301 QVRTVSSSNL FFKGSRFRYS GRVAKEVMES SAKIKREPPE IHRAGMVPSR SCPSITHGPR
361 LSSVPRTRRR AVHISIMEGL ESLRDSAHST PVRSTSHGDT FLPHVRSSRT DSNERVAVIA
421 DEAYSPADSV LPTPVAEHSL ELMLLSRQIN GATCSIEEEK ESEASTPTAT EVEALGGELR
481 ALCQGHSGPE EEQVNKFVLS VLRLLLVTMG LLFVLLLLLI ILTESDLDIA FFRDIRQTPE
541 FEQFHYQYFC PLRRWFACKI RSVVSLLIDTLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FRMD5 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 1
- Mean surface accessibility (rSASA)
- 0.4
- Highest tissue expression
- 44 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 44 nTPM
- retina: 19 nTPM
- spinal cord: 18 nTPM
- basal ganglia: 14 nTPM
- midbrain: 13 nTPM
- hippocampal formation: 13 nTPM
Single-cell type
- oligodendrocytes: 2,999 nCPM
- retinal amacrine cells: 1,921 nCPM
- pituicytes/fscs: 956 nCPM
- schwann cells: 900 nCPM
- retinal ganglion cells: 796 nCPM
- adrenal cortex cells: 625 nCPM
Immune cell
- MAIT T-cell: 0.3 nTPM
- T-reg: 0.3 nTPM
- memory B-cell: 0.2 nTPM
- memory CD4 T-cell: 0.2 nTPM
- gdT-cell: 0.1 nTPM
- naive CD4 T-cell: 0.1 nTPM
Brain region
- white matter: 73 nTPM
- basal ganglia: 45 nTPM
- medulla oblongata: 42 nTPM
- midbrain: 40 nTPM
- cerebral cortex: 39 nTPM
- pons: 37 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about FRMD5.
Disease | AllUniProt
Conditions FRMD5 is implicated in, by any mechanism.
- Neurodevelopmental disorder with eye movement abnormalities and ataxia (NEDEMA) MIM:620094
Disease | GeneticClinVar
6 pathogenic / likely-pathogenic of 119 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Neurodevelopmental disorder with eye movement abnormalities and ataxia
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)
- 0.25
- gnomAD pLI
- 1
- gnomAD missense Z
- 1.98
- DepMap mean gene effect
- -0.11
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- actomyosin structure organization
- negative regulation of cell motility
- positive regulation of cell adhesion
- regulation of cell migration
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- FERM domain
- Ezrin/radixin/moesin-like
- PH-like domain superfamily
- FERM/acyl-CoA-binding protein superfamily
- FERM adjacent
- FERM, N-terminal
- FERM, C-terminal PH-like domain
- FERM conserved site
- FERM central domain
- Band 4.1 domain
- Ubiquitin-like domain superfamily
- FERM superfamily, second domain
- FERM central domain
- FERM adjacent (FA)
- FERM N-terminal domain
- FERM C-terminal PH-like domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of FRMD5 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FRMD5 as an antibody target. Whether an autoantibody or antibody against FRMD5 could matter depends on whether native FRMD5 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FRMD5 is annotated at the cell surface, where native FRMD5 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label FRMD5 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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