Gene Gene information from NCBI Gene database.
Entrez ID 391059
Gene name Ferric chelate reductase 1
Gene symbol FRRS1
Synonyms (NCBI Gene)
SDFR2SDR2
Chromosome 1
Chromosome location 1p21.2
Summary Members of the cytochrome b561 (CYB561; MIM 600019) family, including FRRS1, reduce ferric to ferrous iron before its transport from the endosome to the cytoplasm (Vargas et al., 2003 [PubMed 14499595]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
181
miRTarBase ID miRNA Experiments Reference
MIRT518443 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT518442 hsa-miR-487b-3p HITS-CLIP 21572407
MIRT518441 hsa-miR-190a-3p HITS-CLIP 21572407
MIRT518440 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT518440 hsa-miR-1277-5p HITS-CLIP 22927820
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8
GO ID Ontology Definition Evidence Reference
GO:0006879 Process Intracellular iron ion homeostasis IBA
GO:0006879 Process Intracellular iron ion homeostasis ISS
GO:0016020 Component Membrane IBA
GO:0016020 Component Membrane IEA
GO:0016491 Function Oxidoreductase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611578 27622 ENSG00000156869
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6ZNA5
Protein name Ferric-chelate reductase 1 (EC 1.-.-.-) (Stromal cell-derived receptor 2) (SDR-2)
Protein function Ferric-chelate reductases reduce Fe(3+) to Fe(2+) before its transport from the endosome to the cytoplasm.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02014 Reeler 32 155 Reeler domain Family
PF03351 DOMON 214 331 DOMON domain Domain
Sequence
MAVSGFTLGTCILLLHISYVANYPNGKVTQSCHGMIPEHGHSPQSVPVHDIYVSQMTFRP
GDQIEVTLSGHPFKGFLLEARNAEDLNGPPIGSFTLIDSEVSQLLTCEDIQGSAVSHRSA
SKKTEIKVYWNAPSSAPNHTQFLVTVVEKYKIYWV
KIPGPIISQPNAFPFTTPKATVVPL
PTLPPVSHLTKPFSASDCGNKKFCIRSPLNCDPEKEASCVFLSFTRDDQSVMVEMSGPSK
GYLSFALSHDQWMGDDDAYLCIHEDQTVYIQPSHLTGRSHPVMDSRDTLEDMAWRLADGV
MQCSFRRNITLPGVKNRFDLNTSYYIFLADG
AANDGRIYKHSQQPLITYEKYDVTDSPKN
IGGSHSVLLLKVHGALMFVAWMTTVSIGVLVARFFKPVWSKAFLLGEAAWFQVHRMLMFT
TTVLTCIAFVMPFIYRGGWSRHAGYHPYLGCIVMTLAVLQPLLAVFRPPLHDPRRQMFNW
THWSMGTAARIIAVAAMFLGMDLPGLNLPDSWKTYAMTGFVAWHVGTEVVLEVHAYRLSR
KVEILDDDRIQILQSFTAVETEGHAFKKAVLAIYVCGNVTFLIIFLSAINHL
Sequence length 592
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
OCULAR HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Asthma Asthma Pubtator 32277847 Associate
★☆☆☆☆
Found in Text Mining only
Dermatitis Dermatitis Pubtator 32277847 Associate
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 35285582 Associate
★☆☆☆☆
Found in Text Mining only
Rhinitis Rhinitis Pubtator 32277847 Associate
★☆☆☆☆
Found in Text Mining only