FRRS1L (ferric chelate reductase 1 like)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 23732
Gene name Ferric chelate reductase 1 like
Gene symbol FRRS1L
Synonyms (NCBI Gene)
C9orf4CG-6CG6DEE37EIEE37
Chromosome 9
Chromosome location 9q31.3
Summary This gene encodes a component of the outer-core of an alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor protein in the brain. The encoded protein is thought to interact with inner-core components of the receptor, and play a role in
SNPs SNP information provided by dbSNP.
11
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (11)
SNP ID Visualize variation Clinical significance Consequence
rs779716535 G>A,T Pathogenic Synonymous variant, coding sequence variant, stop gained
rs878853280 G>A Pathogenic Coding sequence variant, stop gained
rs878853281 C>T Pathogenic Coding sequence variant, stop gained
rs878853282 CCT>- Likely-pathogenic, pathogenic Coding sequence variant, inframe deletion
rs878853283 ->T Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
12
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (12)
miRTarBase ID miRNA Experiments Reference
MIRT715860 hsa-miR-329-5p HITS-CLIP 19536157
MIRT715859 hsa-miR-4423-3p HITS-CLIP 19536157
MIRT658067 hsa-miR-500a-5p HITS-CLIP 23824327
MIRT658066 hsa-miR-501-5p HITS-CLIP 23824327
MIRT658065 hsa-miR-665 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005886 Component Plasma membrane IEA
GO:0016020 Component Membrane IEA
GO:0044877 Function Protein-containing complex binding IEA
GO:0045202 Component Synapse IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604574 1362 ENSG00000260230
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9P0K9
Protein name DOMON domain-containing protein FRRS1L (Brain protein CG-6) (Ferric-chelate reductase 1-like protein)
Protein function Important modulator of glutamate signaling pathway.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03351 DOMON 168 → 283 DOMON domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in adult and fetal brain. Very weak expression in medulla, spinal cord and in adult ovary. {ECO:0000269|PubMed:10603000}.
Sequence 
MRRPRQGGGGAGGSAAARARAGGLGGGSVPARARGAPAAARAAWLRDLCARMARPPRQHP
GVWASLLLLLLTGPAACAASPADDGAGPGGRGPRGRARGDTGADEAVPRHDSSYGTFAGE
FYDLRYLSEEGYPFPTAPPVDPFAKIKVDDCGKTKGCFRYGKPGCNAETCDYFLSYRMIG
ADVEFELSADTDGWVAVGFSSDKKMGGDDVMACVHDDNGRVRIQHFYNVGQWAKEIQRNP
ARDEEGVFENNRVTCRFKRPVNVPRDETIVDLHLSWYYLFAWGPAIQGSITRHDIDSPPA
SERVVSIYKYEDIFMPSAAYQTFSSPFCLLLIVALTFYLLMGTP
Sequence length 344
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
395
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (6)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Chorea Pathogenic; Likely pathogenic rs878853280, rs878853281, rs878853282, rs878853283 RCV000239395
RCV000239392
RCV000239394
RCV000239396
Developmental and epileptic encephalopathy, 37 Pathogenic; Likely pathogenic rs2118467700, rs1831184766, rs776257401, rs1285856108, rs2118467979, rs1382335133, rs2118524756, rs1382090523, rs2538503118, rs878853280, rs878853281, rs878853282, rs878853283, rs2538516016, rs2538497130
View all (13 more)		 RCV001390258
RCV001383854
RCV001382940
RCV001386199
RCV001999815
RCV001945766
RCV001964674
RCV001956306
RCV006249825
RCV002807215
RCV000225353
RCV000225178
RCV000225276
RCV000225128
RCV003025900
RCV003145723
RCV003592483
RCV003592570
RCV003592659
RCV003593309
RCV000554924
RCV000545306
RCV000698199
RCV000689869
RCV000691230
RCV000816811
RCV003591824
RCV001223290
RCV001224897
RCV001203910
RCV001264814
FRRS1L-related disorder Likely pathogenic; Pathogenic rs878853282, rs1054228594 RCV004755810
RCV003409827
Progressive encephalopathy Pathogenic; Likely pathogenic rs878853280, rs878853281, rs878853282, rs878853283 RCV000239395
RCV000239392
RCV000239394
RCV000239396
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs7022318 RCV005916932
Show/Hide Text Mining Associations (13)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Brain Diseases Associate 32928027
Cerebellar Diseases Associate 32928027
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress Associate 27236917
Developmental Disabilities Associate 32928027
Dyskinesia Drug Induced Associate 32928027
Epilepsy Associate 27236917, 32928027
Heredodegenerative Disorders Nervous System Associate 27236917
Hyperkinesis Associate 32928027
Infantile Epileptic Dyskinetic Encephalopathy Associate 27236917
Lennox Gastaut Syndrome Associate 32928027