EEF1AKMT4-ECE2 (EEF1AKMT4-ECE2 readthrough)

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Gene Gene information from NCBI Gene database.
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Entrez ID 110599583
Gene name EEF1AKMT4-ECE2 readthrough
Gene symbol EEF1AKMT4-ECE2
Synonyms (NCBI Gene)
ECE-2ECE2
Chromosome 3
Chromosome location 3q27.1
Summary This gene represents naturally occurring readthrough transcription between adjacent genes eukaryotic translation elongation factor 1 alpha lysine methyltransferase 4 (GeneID: 110599564) and endothelin converting enzyme 2 (GeneID:9718). The readthrough tra
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24 Show/Hide all (24)
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GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane ISS
GO:0003824 Function Catalytic activity IEA
GO:0004222 Function Metalloendopeptidase activity IBA
GO:0004222 Function Metalloendopeptidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DPD8
Protein name EEF1AKMT4-ECE2 readthrough transcript protein (EC 3.4.24.71) [Includes: Methyltransferase-like region (EC 2.1.1.-); Endothelin-converting enzyme 2 region (EC 3.4.24.71)]
Protein function Converts big endothelin-1 to endothelin-1. May also have methyltransferase activity (By similarity). May play a role in amyloid-beta processing (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01431 Peptidase_M13 679 → 882 Peptidase family M13 Family
PF05649 Peptidase_M13_N 234 → 620 Peptidase family M13 Family
PF13649 Methyltransf_25 62 → 145 Methyltransferase domain Domain
Sequence 
MASPGAGRAPPELPERNCGYREVEYWDQRYQGAADSAPYDWFGDFSSFRALLEPELRPED
RILVLGCGNSALSYELFLGGFPNVTSVDYSSVVVAAMQARHAHVPQLRWETMDVRKLDFP
SASFDVVLEKGTLDALLAGERDPWTVSSEGVHTVDQVLSEVGFQKGTRQLLGSRTQLELV
LAGASLLLAALLLGCLVALGVQYHRDPSHSTCLTEACIRVAGKILESLDRGVSPCEDFYQ
FSCGGWIRRNPLPDGRSRWNTFNSLWDQNQAILKHLLENTTFNSSSEAEQKTQRFYLSCL
QVERIEELGAQPLRDLIEKIGGWNITGPWDQDNFMEVLKAVAGTYRATPFFTVYISADSK
SSNSNVIQVDQSGLFLPSRDYYLNRTANEKVLTAYLDYMEELGMLLGGRPTSTREQMQQV
LELEIQLANITVPQDQRRDEEKIYHKMSISELQALAPSMDWLEFLSFLLSPLELSDSEPV
VVYGMDYLQQVSELINRTEPSILNNYLIWNLVQKTTSSLDRRFESAQEKLLETLYGTKKS
CVPRWQTCISNTDDALGFALGSLFVKATFDRQSKEIAEGMISEIRTAFEEALGQLVWMDE
KTRQAAKEKADAIYDMIGFPDFILEPKELDDVYDGYEISEDSFFQNMLNLYNFSAKVMAD
QLRKPPSRDQWSMTPQTVNAYYLPTKNEIVFPAGILQAPFYARNHPKALNFGGIGVVMGH
ELTHAFDDQGREYDKEGNLRPWWQNESLAAFRNHTACMEEQYNQYQVNGERLNGRQTLGE
NIADNGGLKAAYNAYKAWLRKHGEEQQLPAVGLTNHQLFFVGFAQVWCSVRTPESSHEGL
VTDPHSPARFRVLGTLSNSRDFLRHFGCPVGSPMNPGQLCEVW
Sequence length 883
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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Reactome Pathway
Peptide ligand-binding receptors
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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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)
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.
Show/Hide Unknown Diseases (7)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATRIAL FIBRILLATION — GWAS catalog 40645996
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EDEMA — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEART FAILURE — GWAS catalog 40195560
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME — GWAS catalog 39349817
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (14)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 19541930 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 17525706
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis BEFREE 17525706
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 28557628
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune polyendocrinopathy syndrome type 1 Autoimmune polyendocrine syndrome type 1 Pubtator 28557628 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune polyendocrinopathy syndrome, type 1 Autoimmune Polyendocrinopathy BEFREE 28557628
★★★★★
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Cholangiocarcinoma Pubtator 25526346 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 28253288
★★★★★
★☆☆☆☆
Found in Text Mining only
Essential Hypertension Hypertension BEFREE 17525706
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypopituitarism Hypopituitarism BEFREE 28557628
★★★★★
★☆☆☆☆
Found in Text Mining only
Sort by:
ECE2 1 shared diseaseEdema 1 shared pathwayPeptide ligand-binding receptors 2 shared evidence sourcesGWAS catalog (Edema), GWAS catalog (Heart failure) Related via 1 shared disease including Edema — evidence mostly GWAS catalog. RGS10 1 shared diseaseEdema 2 shared evidence sourcesGWAS catalog (Edema), GWAS catalog (Heart failure) Related via 1 shared disease including Edema — evidence mostly GWAS catalog. CACNA1D 2 shared diseasesCongenital disorder of glycosylation, Edema 3 shared evidence sourcesDisgenet (Congenital disorder of glycosylation), GWAS catalog (Edema), GWAS catalog (Heart failure) Related via 2 shared diseases including Congenital disorder of glycosylation, Edema — evidence mostly GWAS catalog. TMEM18 1 shared diseaseEdema 2 shared evidence sourcesGWAS catalog (Edema), GWAS catalog (Heart failure) Related via 1 shared disease including Edema — evidence mostly GWAS catalog. SLC39A8 1 shared diseaseCongenital disorder of glycosylation 2 shared evidence sourcesDisgenet (Congenital disorder of glycosylation), GWAS catalog (Heart failure) Related via 1 shared disease including Congenital disorder of glycosylation — evidence mostly Disgenet.
Attention deficit hyperactivity disorder Linked via 3 of 5 related genesCACNA1D, TMEM18, SLC39A8 Hypertension Linked via 3 of 5 related genesCACNA1D, TMEM18, SLC39A8 Schizophrenia Linked via 3 of 5 related genesCACNA1D, TMEM18, SLC39A8 Alzheimer disease Linked via 2 of 5 related genesECE2, SLC39A8 Breast cancer Linked via 2 of 5 related genesRGS10, TMEM18