FRMD3
FERM domain-containing protein 3
Also known as: EPB41L4O, FRMD3_HUMAN, MGC20553
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- A2A2Y4
- Gene
- FRMD3
- Ensembl
- ENSG00000172159
- Chromosome
- 9
- Canonical length
- 597 aa
- Protein class
- Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Golgi apparatus,Plasma membrane
OverviewNCBI Gene
The protein encoded by this gene is a single pass membrane protein primarily found in ovaries. A similar protein in erythrocytes helps determine the shape of red blood cells, but the function of the encoded protein has not been determined. There is some evidence that this is a tumor suppressor gene, and there is also evidence linking defects in this gene to susceptibility to diabetic nephropathy in type 1 diabetes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Canonical amino-acid sequenceUniProt
597 residues, UniProt reviewed canonical sequence.
>A2A2Y4|FRMD3
1 MFASCHCVPR GRRTMKMIHF RSSSVKSLSQ EMRCTIRLLD DSEISCHIQR ETKGQFLIDH
61 ICNYYSLLEK DYFGIRYVDP EKQRHWLEPN KSIFKQMKTH PPYTMCFRVK FYPHEPLKIK
121 EELTRYLLYL QIKRDIFHGR LLCSFSDAAY LGACIVQAEL GDYDPDEHPE NYISEFEIFP
181 KQSQKLERKI VEIHKNELRG QSPPVAEFNL LLKAHTLETY GVDPHPCKDS TGTTTFLGFT
241 AAGFVVFQGN KRIHLIKWPD VCKLKFEGKT FYVIGTQKEK KAMLAFHTST PAACKHLWKC
301 GVENQAFYKY AKSSQIKTVS SSKIFFKGSR FRYSGKVAKE VVEASSKIQR EPPEVHRANI
361 TQSRSSHSLN KQLIINMEPL QPLLPSPSEQ EEELPLGEGV PLPKEENISA PLISSSPVKA
421 AREYEDPPSE EEDKIKEEPL TISELVYNPS ASLLPTPVDD DEIDMLFDCP SRLELEREDT
481 DSFEDLEADE NAFLIAEEEE LKEARRALSW SYDILTGHIR VNPLVKSFSR LLVVGLGLLL
541 FVFPLLLLLL ESGIDLSFLC EIRQTPEFEQ FHYEYYCPLK EWVAGKVHLI LYMLGCSLocalizationUniProt · AlphaFold · HPA
Whether an antibody against FRMD3 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
- 1
- Mean surface accessibility (rSASA)
- 0.38
- Highest tissue expression
- 80 nTPM
Expression across tissuesHPA
Tissue
- heart muscle: 80 nTPM
- skeletal muscle: 76 nTPM
- tongue: 70 nTPM
- retina: 20 nTPM
- parathyroid gland: 19 nTPM
- epididymis: 15 nTPM
Single-cell type
- retinal bipolar cells: 1,020 nCPM
- podocytes: 1,019 nCPM
- retinal horizontal cells: 851 nCPM
- corticotrophs: 823 nCPM
- distal convoluted tubule cells: 715 nCPM
- pericytes: 585 nCPM
Immune cell
- total PBMC: 5.9 nTPM
- intermediate monocyte: 3.4 nTPM
- neutrophil: 2.5 nTPM
- classical monocyte: 2 nTPM
- non-classical monocyte: 1.5 nTPM
- MAIT T-cell: 0.4 nTPM
Brain region
- choroid plexus: 22 nTPM
- medulla oblongata: 19 nTPM
- hypothalamus: 18 nTPM
- midbrain: 15 nTPM
- spinal cord: 13 nTPM
- thalamus: 13 nTPM
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)
- 0.44
- gnomAD pLI
- 0.27
- gnomAD missense Z
- 0.88
- DepMap mean gene effect
- 0.11
- DepMap dependency class
- none
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
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
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads FRMD3 as an antibody target. Whether an autoantibody or antibody against FRMD3 could matter depends on whether native FRMD3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
FRMD3 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 FRMD3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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