FCGR1A (Fc gamma receptor Ia)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID 2209
Gene name Fc gamma receptor Ia
Gene symbol FCGR1A
Synonyms (NCBI Gene)
CD64CD64AFCG1FCGR1FCRIFcgammaRIIGFR1
Chromosome 1
Chromosome location 1q21.2
Summary This gene encodes a protein that plays an important role in the immune response. This protein is a high-affinity Fc-gamma receptor. The gene is one of three related gene family members located on chromosome 1. [provided by RefSeq, Jul 2008]
miRNA miRNA information provided by mirtarbase database.
7
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (7)
miRTarBase ID miRNA Experiments Reference
MIRT993836 hsa-miR-3120-5p CLIP-seq
MIRT993837 hsa-miR-4311 CLIP-seq
MIRT993838 hsa-miR-4652-3p CLIP-seq
MIRT993839 hsa-miR-4711-3p CLIP-seq
MIRT993840 hsa-miR-4753-3p CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Gene SNPs Transcription factors Other IDs Associated diseases
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Transcription factor Regulation Reference
SPI1 Unknown 10820245;14734612
STAT1 Unknown 14734612
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
Gene SNPs Transcription factors Other IDs Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001788 Process Antibody-dependent cellular cytotoxicity IBA
GO:0001788 Process Antibody-dependent cellular cytotoxicity IDA 11711607
GO:0001788 Process Antibody-dependent cellular cytotoxicity IEA
GO:0001788 Process Antibody-dependent cellular cytotoxicity IEA
GO:0001798 Process Positive regulation of type IIa hypersensitivity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
146760 3613 ENSG00000150337
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P12314
Protein name High affinity immunoglobulin gamma Fc receptor I (IgG Fc receptor I) (Fc-gamma RI) (FcRI) (Fc-gamma RIA) (FcgammaRIa) (CD antigen CD64)
Protein function High affinity receptor for the Fc region of immunoglobulins gamma. Functions in both innate and adaptive immune responses. Mediates IgG effector functions on monocytes triggering antibody-dependent cellular cytotoxicity (ADCC) of virus-infected
PDB 3RJD , 4W4O , 4X4M , 4ZNE , 8DIN , 8DIR , 8DJ7
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13927 Ig_3 23 → 87 Domain
PF13895 Ig_2 104 → 185 Immunoglobulin domain Domain
PF00047 ig 195 → 275 Immunoglobulin domain Domain
Tissue specificity TISSUE SPECIFICITY: Monocyte/macrophage specific.
Sequence
Sequence length 374
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs Transcription factors Other IDs Associated diseases
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)
Show/Hide Unknown Diseases (13)
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
ARTHRITIS, JUVENILE — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CALCINOSIS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FCGR1A-related disorder Uncertain significance ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (150)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute monocytic leukemia Monocytic Leukemia BEFREE 29113330
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 31787334
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 28984423, 29113330
★★★★★
★☆☆☆☆
Found in Text Mining only
Agammaglobulinemia Agammaglobulinemia Pubtator 26708396 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 28954282
★★★★★
★☆☆☆☆
Found in Text Mining only
Alopecia Areata Alopecia Areata LHGDN 17124586
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 30193587, 33186918, 34602489 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaphylaxis Anaphylaxis Pubtator 30189430 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 9414294 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 28954282
★★★★★
★☆☆☆☆
Found in Text Mining only