EMC4 (ER membrane protein complex subunit 4)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 51234
Gene name ER membrane protein complex subunit 4
Gene symbol EMC4
Synonyms (NCBI Gene)
PIG17TMEM85
Chromosome 15
Chromosome location 15q14
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT735140 hsa-miR-15b-5p MicroarrayqRT-PCRFlow cytometry 32661467
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 31695625, 33845483, 34232536, 36217030
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 32439656
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane NAS 29242231
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616245 28032 ENSG00000128463
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5J8M3
Protein name ER membrane protein complex subunit 4 (Cell proliferation-inducing gene 17 protein) (Transmembrane protein 85)
Protein function Part of the endoplasmic reticulum membrane protein complex (EMC) that enables the energy-independent insertion into endoplasmic reticulum membranes of newly synthesized membrane proteins (PubMed:29242231, PubMed:29809151, PubMed:30415835, PubMed
PDB 6Z3W , 7ADO , 7ADP , 8EOI , 8J0N , 8J0O , 8S9S , 9C7V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06417 DUF1077 56 → 170 Protein of unknown function (DUF1077) Family
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is expressed in brain and heart. Isoform 2 is expressed in heart. {ECO:0000269|PubMed:18586032}.
Sequence
Sequence length 183
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene miRNA 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 (1)
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
CORPUS CALLOSUM AGENESIS NEURONOPATHY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations