ERICH5 (glutamate rich 5)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 203111
Gene name Glutamate rich 5
Gene symbol ERICH5
Synonyms (NCBI Gene)
C8orf47
Chromosome 8
Chromosome location 8q22.2
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183, 35156780
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
620895 26823 ENSG00000177459
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P6B1
Protein name Glutamate-rich protein 5
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15140 DUF4573 94 → 267 Domain of unknown function (DUF4573) Family
Sequence 
MGCSSSALNKAGDSSRFPSVTSNEHFSTAEESESCFAQPKPHALGRESTVDGNVQRESRP
PLQKLKVSAEPTANGVKPLQEQPLAKDVAPGRDATDQSGSTEKTQPGEGLEESGPPQPGG
KEDAPAAEGKKKDAGAGTEAESLKGNAEAQPLGPEAKGQPLQAAVEKDSLRAVEVTENPQ
TAAEMKPLGTTENVLTLQIAGELQPQGTVGKDEQAPLLETISKENESPEILEGSQFVETA
EEQQLQATLGKEEQPQLLERIPKENVTPEVLDRSQLVEKPVMNDPFHKTPEGPGNMEQIQ
PEGIVGSMEHPARNVEAGAYVEMIRNIHTNEEDQRIEGETGEKVETDMENEKVSEGAETK
EEETGEVVDLSAAT
Sequence length 374
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene Gene ontology Other IDs Protein 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 (2)
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
EOSINOPHILIC ESOPHAGITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations