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This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine... See more...
Aliases for FRMD4A Gene
Aliases for FRMD4A Gene
External Ids for FRMD4A Gene
- HGNC: 25491
- Entrez Gene: 55691
- Ensembl: ENSG00000151474
- OMIM: 616305
- UniProtKB: Q9P2Q2
Previous HGNC Symbols for FRMD4A Gene
- FRMD4
Previous GeneCards Identifiers for FRMD4A Gene
- GC10M013725
- GC10M013597
- GC10M013685
Summaries for FRMD4A Gene
-
This gene encodes a FERM domain-containing protein that regulates epithelial cell polarity. It connects ADP ribosylation factor 6 (ARF6) with the Par protein complex, which regulates the remodeling of adherens junctions and linear actin cable formation during epithelial cell polarization. Polymorphisms in this gene are associated with Alzheimer's disease, and also with nicotine dependence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
GeneCards Summary for FRMD4A Gene
FRMD4A (FERM Domain Containing 4A) is a Protein Coding gene. Diseases associated with FRMD4A include Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia and Arrhythmogenic Right Ventricular Dysplasia, Familial, 13. Gene Ontology (GO) annotations related to this gene include protein binding, bridging. An important paralog of this gene is FRMD4B.
UniProtKB/Swiss-Prot Summary for FRMD4A Gene
-
Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activating ARF6-signaling (PubMed:27044754).
Additional gene information for FRMD4A Gene
- HGNC(25491)
- Entrez Gene(55691)
- Ensembl(ENSG00000151474)
- OMIM(616305)
- UniProtKB(Q9P2Q2)
- Open Targets Platform(ENSG00000151474)
- Monarch Initiative
- Search for FRMD4A at DataMed
- Search for FRMD4A at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FRMD4A Gene
Genomics for FRMD4A Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FRMD4A Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH10J014329 | Promoter/Enhancer | 1 | EPDnew Ensembl ENCODE | 600.1 | +132.1 | 132141 | 2.4 | CTCF WT1 ZNF398 GATA2 ZNF680 | FRMD4A ENSG00000285671 RF00017-597 ENSG00000282246 | |
| GH10J014435 | Promoter | 0.3 | EPDnew | 600.3 | +26.9 | 26938 | 0.1 | MIR1265 FRMD4A ENSG00000278100 ENSG00000282246 | ||
| GH10J014403 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE dbSUPER | 11.7 | +56.6 | 56582 | 4.5 | FOXA1 RFX1 CTBP1 FOS GATA3 DPF2 BHLHE40 RCOR1 MAFK NFIB | FRMD4A MIR1265 ENSG00000278100 ENSG00000282246 | |
| GH10J014486 | Enhancer | 0.7 | Ensembl ENCODE | 11.9 | -25.5 | -25492 | 2.1 | RFX1 CEBPB BMI1 FOXA2 FOS RFX5 NFE2L2 ZNF652 | FRMD4A FAM107B HSALNG0076309 piR-41881-003 | |
| GH10J013814 | Enhancer | 1.1 | Ensembl ENCODE dbSUPER | 6.6 | +646.1 | 646141 | 3.6 | ZIC2 SP1 PKNOX1 ZNF561 ZBTB44 JUND FOXA2 ZSCAN5C OSR2 ZNF580 | FRMD4A NUTF2P5 piR-35674-038 ENSG00000282246 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FRMD4A on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FRMD4A
- Top Transcription factor binding sites by QIAGEN in the FRMD4A gene promoter:
-
- AML1a
- E47
- FOXO1
- FOXO1a
- ISGF-3
- Lhx3a
- LHX3b
- Pax-4a
- POU2F1
- POU2F1a
Genomic Locations for FRMD4A Gene
Genomic Locations for FRMD4A Gene
- chr10:13,638,300-14,462,142
- (GRCh38/hg38)
- Size:
- 823,843 bases
- Orientation:
- Minus strand
- chr10:13,685,706-14,504,141
- (GRCh37/hg19)
- Size:
- 818,436 bases
- Orientation:
- Minus strand
Genomic View for FRMD4A Gene
Genes around FRMD4A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 10p13 by HGNC
- 10p13 by Entrez Gene
- 10p13 by Ensembl
FRMD4A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FRMD4A Gene
Proteins for FRMD4A Gene
-
Protein details for FRMD4A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9P2Q2-FRM4A_HUMAN
- Recommended name:
- FERM domain-containing protein 4A
- Protein Accession:
- Q9P2Q2
- A7E2Y3
- Q5T377
Protein attributes for FRMD4A Gene
- Size:
- 1039 amino acids
- Molecular mass:
- 115458 Da
- Quaternary structure:
-
- Interacts (via coiled-coil domain) with CYTH1 (via coiled-coil domain). Interacts with PARD3 (via coiled-coil domain). Found in a complex with PARD3, CYTH1 and FRMD4A. Interacts with CYTH2. Interacts with CYTH3.
- SequenceCaution:
-
- Sequence=BAA92532.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Protein Expression for FRMD4A Gene
Post-translational modifications for FRMD4A Gene
Other Protein References for FRMD4A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_005252546.1
- XP_005252547.1
- XP_005252552.1
- XP_006717520.1
- XP_006717521.1
- XP_006717522.1
- XP_006717523.1
- XP_006717527.1
- XP_011517841.1
- XP_011517842.1
- XP_011517843.1
- XP_011517845.1
- XP_016871882.1
- XP_016871883.1
- XP_016871884.1
- XP_016871885.1
- XP_024303835.1
- XP_024303836.1
- XP_024303837.1
- XP_024303838.1
- XP_024303839.1
- XP_024303840.1
- XP_024303842.1
- NP_001305265.1
- NP_001305266.1
- NP_001305267.1
- NP_060497.3
Antibody Products
- Novus Biologicals Antibodies for FRMD4A
- Invitrogen Antibodies for FRMD4A (AFLGC-FRMD4A)
- antibodies-online: Show 17 available FRMD4A Antibodies ranked by validation data
-
Biorbyt antibodies for FRMD4A
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for FRMD4A
- Origene Custom Protein Services for FRMD4A
- Novus Biologicals proteins for FRMD4A
No data available for DME Specific Peptides for FRMD4A Gene
Domains & Families for FRMD4A Gene
Gene Families for FRMD4A Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for FRMD4A Gene
- InterPro:
- Blocks:
-
- Band 4.1 domain
- ProtoNet:
Suggested Antigen Peptide Sequences for FRMD4A Gene
- GenScript: Design optimal peptide antigens:
-
- FERM domain-containing protein 4A (FRM4A_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FRMD4A Gene
Function for FRMD4A Gene
Molecular function for FRMD4A Gene
- UniProtKB/Swiss-Prot Function:
- Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activating ARF6-signaling (PubMed:27044754).
Phenotypes From GWAS Catalog for FRMD4A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0030674 | protein binding, bridging | IEA | -- |
Phenotypes for FRMD4A Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FRMD4A - Select products 50% OFF >
- * FRMD4A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FRMD4A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FRMD4A
-
Santa Cruz Biotechnology (SCBT) CRISPR for FRMD4A
miRNA for FRMD4A Gene
- miRTarBase miRNAs that target FRMD4A
-
- mmu-miR-301b-3p (MIRT007936)
- mmu-miR-425-5p (MIRT008655)
- mmu-miR-34b-5p (MIRT012821)
- mmu-miR-9-5p (MIRT015396)
- hsa-miR-423-3p (MIRT042616)
- hsa-miR-218-5p (MIRT440612)
- mmu-miR-466o-5p (MIRT595339)
- mmu-miR-466b-5p (MIRT595340)
- mmu-miR-466c-5p (MIRT595341)
- mmu-miR-511-3p (MIRT595342)
- mmu-miR-186-5p (MIRT595343)
- mmu-miR-1954 (MIRT595344)
- hsa-miR-34a-5p (MIRT732596)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FRMD4A
- Browse OriGene Inhibitory RNA Products For FRMD4A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRMD4A
Clone Products
- Applied Biological Materials (abm): Clones for FRMD4A - Select products 50% OFF >
- * FRMD4A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for FRMD4A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FRMD4A
Cell Line Products
-
Horizon Cell Lines for FRMD4A
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for FRMD4A Gene
Localization for FRMD4A Gene
Subcellular locations from UniProtKB/Swiss-Prot for FRMD4A Gene
- Cytoplasm, cytoskeleton. Cell junction, adherens junction. Cell junction, tight junction. Note=Colocalized with CYTH1 at adherens junction and tight junction. Colocalized with PARD3 during the process of epithelial polarization. {ECO:0000250 UniProtKB:Q8BIE6}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 4 |
| cytosol | 3 |
| nucleus | 2 |
| golgi apparatus | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| endosome | 1 |
- Golgi apparatus (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IMP | 27044754 |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005912 | adherens junction | IBA | 21873635 |
| GO:0005923 | bicellular tight junction | IBA | 21873635 |
| GO:0030054 | cell junction | IEA | -- |
Pathways & Interactions for FRMD4A Gene
Interacting Proteins for FRMD4A Gene
GPS-Prot Interaction Network for FRMD4A
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0050709 | negative regulation of protein secretion | IEA | -- |
| GO:0050714 | positive regulation of protein secretion | IMP | 27044754 |
| GO:0090162 | establishment of epithelial cell polarity | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for FRMD4A Gene
Transcripts for FRMD4A Gene
mRNA/cDNA for FRMD4A Gene
- 4 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000264546 2145 nts (view in UCSC)
- ENST00000342409 1741 nts (view in UCSC)
- ENST00000357447 6861 nts (view in UCSC)
- ENST00000475141 1233 nts (view in UCSC)
- ENST00000475325 875 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FRMD4A - Select products 50% OFF >
- * FRMD4A CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FRMD4A
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FRMD4A
-
Santa Cruz Biotechnology (SCBT) CRISPR for FRMD4A
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FRMD4A
- Browse OriGene Inhibitory RNA Products For FRMD4A
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FRMD4A
Clone Products
- Applied Biological Materials (abm): Clones for FRMD4A - Select products 50% OFF >
- * FRMD4A as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for FRMD4A
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FRMD4A
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | · | 21c | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP10: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP14: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: |
| ExUns: | 22a | · | 22b | ^ | 23a | · | 23b | ^ | 24a | · | 24b | · | 24c | · | 24d | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | ^ | 30a | · | 30b | ^ | 31a | · | 31b | ^ | 32 | ^ | 33a | · | 33b | · | 33c | ^ | 34 | ^ | 35 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP17: |
Relevant External Links for FRMD4A Gene
- GeneLoc Exon Structure for
- FRMD4A
Expression for FRMD4A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
This gene is overexpressed in Heart (46.9) and Fetal Brain (14.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FRMD4A Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FRMD4A
SOURCE GeneReport for Unigene cluster for FRMD4A Gene:
Hs.330463Evidence on tissue expression from TISSUES for FRMD4A Gene
- Nervous system(4.8)
- Liver(4.3)
- Skin(2.5)
Primer Products
-
OriGene qPCR primer pairs for FRMD4A
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FRMD4A Gene
Orthologs for FRMD4A Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FRMD4A 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | FRMD4A 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FRMD4A 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FRMD4A 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Frmd4a 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Frmd4a 30 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | FRMD4A 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FRMD4A 31 |
|
OneToOne | |
| LOC419035 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | FRMD4A 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | frmd4a 30 |
|
||
| Str.4039 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.9210 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | FRMD4A 31 |
|
OneToOne | |
| si:ch211-220f12.1 30 |
|
||||
| Worm (Caenorhabditis elegans) |
Secernentea | F07C6.4 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for FRMD4A was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for FRMD4A Gene
- ENSEMBL:
- Gene Tree for FRMD4A (if available)
- TreeFam:
- Gene Tree for FRMD4A (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FRMD4A: view image
Paralogs for FRMD4A Gene
Variants for FRMD4A Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FRMD4A Gene
| SNP ID | Clinical significance and condition | Chr 10 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 709945 | Benign: not provided | 13,660,521(-) | G/A | SYNONYMOUS_VARIANT | |
| 709946 | Benign: not provided | 13,666,172(-) | T/C | MISSENSE_VARIANT | |
| 711129 | Likely Benign: not provided | 13,659,454(-) | C/T | SYNONYMOUS_VARIANT | |
| 711712 | Likely Benign: not provided | 13,858,853(-) | T/G | SYNONYMOUS_VARIANT | |
| 713461 | Benign: not provided | 13,810,915(-) | G/A | INTRON_VARIANT |
Residual Variation Intolerance Score:
2.98% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.23;
62.23% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FRMD4A Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FRMD4A Gene
Disorders for FRMD4A Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia |
|
|
| arrhythmogenic right ventricular dysplasia, familial, 13 |
|
|
| arrhythmogenic right ventricular dysplasia, familial, 1 |
|
|
| kohlschutter-tonz syndrome |
|
|
| microcephaly |
|
|
Search FRMD4A in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FRM4A_HUMAN- Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia (CCAFCA) [MIM:616819]: An autosomal recessive intellectual disability syndrome characterized by congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment. {ECO:0000269 PubMed:25388005}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for FRMD4A
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No data available for Genatlas for FRMD4A Gene
Publications for FRMD4A Gene
- Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10718198) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2000) 2 3 4
- FRMD4A-cytohesin signaling modulates the cellular release of tau. (PMID: 27044754) Yan X … Huttunen HJ (Journal of cell science 2016) 3 4
- A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A. (PMID: 25388005) Fine D … Birk OS (European journal of human genetics : EJHG 2015) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. (PMID: 20031603) Marroni F … EUROSPAN Consortium (Circulation. Cardiovascular genetics 2009) 3 41
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