Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	DEE37
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

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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
rs933379958	C>-,CC	Pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs1054228594	G>A	Pathogenic	Coding sequence variant, stop gained
rs1310777849	C>A	Likely-pathogenic	Genic upstream transcript variant, 5 prime UTR variant, upstream transcript variant
rs1564229174	G>A	Pathogenic	Stop gained, coding sequence variant
rs1564229228	T>C	Likely-pathogenic	Splice acceptor variant
rs1564232243	CA>-	Pathogenic	Frameshift variant, coding sequence variant

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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
MIRT658064	hsa-miR-1283	HITS-CLIP	23824327
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
MIRT658064	hsa-miR-1283	HITS-CLIP	23824327

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005575	Component	Cellular_component	ND
GO:0005886	Component	Plasma membrane	IEA
GO:0016021	Component	Integral component of membrane	IEA
GO:0045202	Component	Synapse	IEA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IBA	21873635
GO:1900449	Process	Regulation of glutamate receptor signaling pathway	IBA	21873635
GO:1900449	Process	Regulation of glutamate receptor signaling pathway	IMP	27236917

MIM	HGNC	e!Ensembl
604574	1362	ENSG00000260230

Protein

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

Show/Hide Causal Diseases (9)

Disease term	Disease name	dbSNP ID	References
Causal
Autism	Autistic behavior	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Developmental regression	Developmental regression	rs1224421127
Epileptic encephalopathy	Epileptic encephalopathy, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 37	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)	30525197, 27239025, 30914295, 27236917
Mental retardation	Severe intellectual disability, Mild Mental Retardation, Moderate intellectual disability, Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Non-syndromic intellectual disability	Autosomal recessive non-syndromic intellectual disability	rs121918049, rs1135401819, rs1553638614, rs1561846159, rs1564493599, rs1563978827
Polymicrogyria	Polymicrogyria	rs1558010146, rs1558003446, rs1575508937
Seizure	Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061 View all (179 more)

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Mental depression	Depressive disorder	ClinVar
Non-Syndromic Intellectual Disability	autosomal recessive non-syndromic intellectual disability	GenCC
Metabolic Syndrome	Metabolic Syndrome	GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining
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
Movement Disorders	Associate	32928027
Neurologic Manifestations	Associate	27236917
Spasms Infantile	Associate	32928027

FRRS1L (ferric chelate reductase 1 like)