EMC2 (ER membrane protein complex subunit 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9694
Gene name Gene Name - the full gene name approved by the HGNC.
ER membrane protein complex subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
EMC2
Synonyms (NCBI Gene) Gene synonyms aliases
KIAA0103, TTC35
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q23.1
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(77)
miRTarBase ID miRNA Experiments Reference
MIRT045186 hsa-miR-186-5p CLASH 23622248
MIRT628980 hsa-miR-4310 HITS-CLIP 23824327
MIRT628979 hsa-miR-7157-5p HITS-CLIP 23824327
MIRT665132 hsa-miR-5693 HITS-CLIP 23824327
MIRT665131 hsa-miR-194-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 22119785, 25416956, 26496610, 28514442, 30021884, 32296183, 32439656, 33961781, 33964204, 35271311
GO:0005737 Component Cytoplasm IDA 22119785
GO:0005783 Component Endoplasmic reticulum IDA 10942595
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 22119785
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607722 28963 ENSG00000104412
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q15006
Protein name ER membrane protein complex subunit 2 (Tetratricopeptide repeat protein 35) (TPR repeat protein 35)
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 6WW7 , 6Y4L , 6Z3W , 7ADO , 7ADP , 8EOI , 8J0N , 8J0O , 8S9S , 9C7V
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14559 TPR_19 97 → 161 Domain
PF14559 TPR_19 131 → 199 Domain
Sequence 
MAKVSELYDVTWEEMRDKMRKWREENSRNSEQIVEVGEELINEYASKLGDDIWIIYEQVM
IAALDYGRDDLALFCLQELRRQFPGSHRVKRLTGMRFEAMERYDDAIQLYDRILQEDPTN
TAARKRKIAIRKAQGKNVEAIRELNEYLEQFVGDQEAWHELAELYINEHDYAKAAFCLEE
LMMTNPHNHLYCQQYAEVKYTQGGLENLELSRKYFAQALKLNNRNMRALFGLYMSASHIA
SNPKASAKTKKDNMKYASWAASQINRAYQFAGRSKKETKYSLKAVEDMLETLQITQS
Sequence length 297
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 40696656
Friedreich Ataxia 1 Associate 40432442
Leukemia Myeloid Acute Associate 39311489
Multiple Trauma Associate 40432442
Neoplasms Associate 40432442