Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9694
Gene name	ER membrane protein complex subunit 2
Gene symbol	EMC2
Synonyms (NCBI Gene)	KIAA0103TTC35
Chromosome	8
Chromosome location	8q23.1

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
MIRT628978	hsa-miR-338-3p	HITS-CLIP	23824327
MIRT628977	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT628976	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT628975	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT658705	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT658704	hsa-miR-4284	HITS-CLIP	23824327
MIRT658703	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT628974	hsa-miR-7977	HITS-CLIP	23824327
MIRT628973	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT628972	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT628971	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT628980	hsa-miR-4310	HITS-CLIP	23824327
MIRT628979	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT628978	hsa-miR-338-3p	HITS-CLIP	23824327
MIRT628977	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT628976	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT628975	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT658705	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT658704	hsa-miR-4284	HITS-CLIP	23824327
MIRT658703	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT628974	hsa-miR-7977	HITS-CLIP	23824327
MIRT628973	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT628972	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT628971	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT628980	hsa-miR-4310	HITS-CLIP	23824327
MIRT628979	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT628978	hsa-miR-338-3p	HITS-CLIP	23824327
MIRT628977	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT628976	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT628975	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT628974	hsa-miR-7977	HITS-CLIP	23824327
MIRT628973	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT628972	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT628971	hsa-miR-6514-3p	HITS-CLIP	23824327
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
MIRT628978	hsa-miR-338-3p	HITS-CLIP	23824327
MIRT628977	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT628976	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT628975	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT658705	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT658704	hsa-miR-4284	HITS-CLIP	23824327
MIRT658703	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT628974	hsa-miR-7977	HITS-CLIP	23824327
MIRT628973	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT628972	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT628971	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT628980	hsa-miR-4310	HITS-CLIP	23824327
MIRT628979	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT628978	hsa-miR-338-3p	HITS-CLIP	23824327
MIRT628977	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT628976	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT628975	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT658705	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT658704	hsa-miR-4284	HITS-CLIP	23824327
MIRT658703	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT628974	hsa-miR-7977	HITS-CLIP	23824327
MIRT628973	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT628972	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT628971	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT628980	hsa-miR-4310	HITS-CLIP	23824327
MIRT628979	hsa-miR-7157-5p	HITS-CLIP	23824327
MIRT628978	hsa-miR-338-3p	HITS-CLIP	23824327
MIRT628977	hsa-miR-6746-5p	HITS-CLIP	23824327
MIRT628976	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT628975	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT628974	hsa-miR-7977	HITS-CLIP	23824327
MIRT628973	hsa-miR-425-3p	HITS-CLIP	23824327
MIRT628972	hsa-miR-6771-5p	HITS-CLIP	23824327
MIRT628971	hsa-miR-6514-3p	HITS-CLIP	23824327

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
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	29242231
GO:0016020	Component	Membrane	IEA
GO:0032977	Function	Membrane insertase activity	IMP	29809151, 30415835
GO:0042406	Component	Extrinsic component of endoplasmic reticulum membrane	IDA	32439656
GO:0045050	Process	Protein insertion into ER membrane by stop-transfer membrane-anchor sequence	IDA	29242231, 33964204
GO:0045050	Process	Protein insertion into ER membrane by stop-transfer membrane-anchor sequence	IMP	29809151, 30415835
GO:0071816	Process	Tail-anchored membrane protein insertion into ER membrane	IDA	29242231
GO:0072546	Component	EMC complex	IBA
GO:0072546	Component	EMC complex	IDA	22119785, 33964204
GO:0072546	Component	EMC complex	IPI	32439656
GO:0072546	Component	EMC complex	ISS

MIM	HGNC	e!Ensembl
607722	28963	ENSG00000104412

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

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 (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (7)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alopecia, Androgenetic, 1	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 2	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 3	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASCAT_DG	29146897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	GWASCAT_DG	29146897		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	40696656	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	39311489	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

EMC2 (ER membrane protein complex subunit 2)