EMC10 (ER membrane protein complex subunit 10)

Gene

• Entrez ID: 284361
• Gene name: ER membrane protein complex subunit 10
• Gene symbol: EMC10
• Synonyms (NCBI Gene): C19orf63, HSM1, HSS1, NEDDFAS
• Chromosome: 19
• Chromosome location: 19q13.33

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045385	hsa-miR-185-5p	CLASH	23622248
MIRT036764	hsa-miR-760	CLASH	23622248
MIRT703973	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT703972	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT703971	hsa-miR-3926	HITS-CLIP	23313552
MIRT703970	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT703969	hsa-miR-548s	HITS-CLIP	23313552
MIRT640101	hsa-miR-8485	HITS-CLIP	23824327
MIRT640100	hsa-miR-6884-3p	HITS-CLIP	23824327
MIRT640099	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT640098	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT640097	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT640096	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT640095	hsa-miR-642a-5p	HITS-CLIP	23824327
MIRT703973	hsa-miR-548c-3p	HITS-CLIP	23313552
MIRT703972	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT703971	hsa-miR-3926	HITS-CLIP	23313552
MIRT703970	hsa-miR-4684-5p	HITS-CLIP	23313552
MIRT703969	hsa-miR-548s	HITS-CLIP	23313552
MIRT640101	hsa-miR-8485	HITS-CLIP	23824327
MIRT640100	hsa-miR-6884-3p	HITS-CLIP	23824327
MIRT640099	hsa-miR-361-3p	HITS-CLIP	23824327
MIRT640098	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT640097	hsa-miR-2276-5p	HITS-CLIP	23824327
MIRT640096	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT640095	hsa-miR-642a-5p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IDA	28931551
GO:0005576	Component	Extracellular region	IDA	28931551
GO:0005576	Component	Extracellular region	IEA
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
GO:0010595	Process	Positive regulation of endothelial cell migration	ISS
GO:0016020	Component	Membrane	IDA	22119785
GO:0016020	Component	Membrane	IEA
GO:0032977	Function	Membrane insertase activity	IMP	29809151, 30415835
GO:0045050	Process	Protein insertion into ER membrane by stop-transfer membrane-anchor sequence	IDA	29242231
GO:0045050	Process	Protein insertion into ER membrane by stop-transfer membrane-anchor sequence	IMP	29809151, 30415835
GO:0045766	Process	Positive regulation of angiogenesis	IMP	28931551
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
GO:0072546	Component	EMC complex	IPI	32439656
GO:0072546	Component	EMC complex	ISS

Other IDs

• MIM: 614545
• HGNC: 27609
• e!Ensembl: ENSG00000161671

Protein

• UniProt ID: Q5UCC4
• Protein name: ER membrane protein complex subunit 10 (Hematopoietic signal peptide-containing membrane domain-containing protein 1)
• 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, 6Z3W, 7ADO, 7ADP, 8EOI, 8J0N, 8J0O, 8S9S, 9C7V
• Tissue specificity: TISSUE SPECIFICITY: Present in serum (at protein level). Increased expression seen in the left ventrice after myocardial infarction (at protein level). Expressed in the pituitary gland. Expressed in brain (PubMed:33531666). {ECO:0000269|PubMed:19570817, E
• Sequence:

  MAAASAGATRLLLLLLMAVAAPSRARGSGCRAGTGARGAGAEGREGEACGTVGLLLEHSF
  EIDDSANFRKRGSLLWNQQDGTLSLSQRQLSEEERGRLRDVAALNGLYRVRIPRRPGALD
  GLEAGGYVSSFVPACSLVESHLSDQLTLHVDVAGNVVGVSVVTHPGGCRGHEVEDVDLEL
  FNTSVQLQPPTTAPGPETAAFIERLEMEQAQKAKNPQEQKSFFAKYWMYIIPVVLFLMMS
  GAPDTGGQGGGGGGGGGGGSGR

• Sequence length: 262

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
EMC10-related disorder	Likely pathogenic	rs953380956	RCV003892179	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs770255014	RCV001270149	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs151303712	RCV005922412	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with dysmorphic facies and variable seizures	Pathogenic; Likely pathogenic	rs2122664852, rs151303712, rs953380956, rs765552403, rs1211225273, rs2513789400, rs1008544115, rs2513792624, rs2513795226, rs770255014	RCV001374393 RCV001775292 RCV001775294 RCV001781034 RCV002281590 RCV002281591 RCV002281592 RCV002281593 RCV003338065 RCV001374394	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aphasia	Aphasia	Pubtator	32869858, 33531666	Associate	★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	Pubtator	33531666	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	BEFREE	29659949		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	20680400		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	32869858	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	33531666	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28931551		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32869858, 33531666	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20680400		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20680400		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20680400		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	25481245	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	28931551		★☆☆☆☆ Found in Text Mining only
Hereditary spherocytosis	Hereditary Spherocytosis	BEFREE	15070709		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	32869858, 33531666	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Development Disorders	Language development disorders	Pubtator	32869858	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	29884787	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	20680400		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20680400		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	28931551		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	32869858	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33531666	Associate	★☆☆☆☆ Found in Text Mining only