FRRS1L (ferric chelate reductase 1 like)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23732
Gene name Gene Name - the full gene name approved by the HGNC.
Ferric chelate reductase 1 like
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FRRS1L
Synonyms (NCBI Gene) Gene synonyms aliases
C9orf4, CG-6, CG6, DEE37, EIEE37
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604574 1362 ENSG00000260230
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Developmental And Epileptic Encephalopathy Developmental and epileptic encephalopathy, 37 rs1564229228, rs1564229174, rs1310777849, rs878853280, rs878853281, rs878853282, rs878853283, rs933379958, rs1054228594, rs779716535, rs1564232243 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Non-Syndromic Intellectual Disability autosomal recessive non-syndromic intellectual disability N/A N/A GenCC
Show/Hide Text Mining Associations (13)
Associations from Text Mining Disease 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