EVA1C (eva-1 homolog C)

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Gene Gene information from NCBI Gene database.
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Entrez ID 59271
Gene name Eva-1 homolog C
Gene symbol EVA1C
Synonyms (NCBI Gene)
B18B19C21orf63C21orf64FAM176CPRED34SUE21
Chromosome 21
Chromosome location 21q22.11
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IBA
GO:0005576 Component Extracellular region IDA 19470522
GO:0008201 Function Heparin binding IBA
GO:0008201 Function Heparin binding IMP 19470522
GO:0016020 Component Membrane 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.
P58658
Protein name Protein eva-1 homolog C (Protein FAM176C) (SUE21)
Protein function Binds heparin.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02140 Gal_Lectin 176 → 259 Galactose binding lectin domain Domain
PF02140 Gal_Lectin 75 → 158 Galactose binding lectin domain Domain
PF14851 FAM176 301 → 441 FAM176 family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:19470522}.
Sequence 
MLLPGRARQPPTPQPVQHPGLRRQVEPPGQLLRLFYCTVLVCSKEISALTDFSGYLTKLL
QNHTTYACDGDYLNLQCPRHSTISVQSAFYGQDYQMCSSQKPASQREDSLTCVAATTFQK
VLDECQNQRACHLLVNSRVFGPDLCPGSSKYLLVSFKCQPNELKNKTVCEDQELKLHCHE
SKFLNIYSATYGRRTQERDICSSKAERLPPFDCLSYSALQVLSRRCYGKQRCKIIVNNHH
FGSPCLPGVKKYLTVTYACVPKNILTAIDPAIANLKPSLKQKDGEYGINFDPSGSKVLRK
DGILVSNSLAAFAYIRAHPERAALLFVSSVCIGLALTLCALVIRESCAKDFRDLQLGREQ
LVPGSDKVEEDSEDEEEEEDPSESDFPGELSGFCRTSYPIYSSIEAAELAERIERREQII
QEIWMNSGLDTSLPRNMGQFY
Sequence length 441
Interactions View interactions
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.
Phenotype Name Clinical Significance Source Reference Evidence Score
CEREBRAL AMYLOID ANGIOPATHY — GWAS catalog 34020725
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEPATITIS VIRUS-RELATED HEPATOCELLULAR CARCINOMA — GWAS catalog 33736632
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA — GWAS catalog 35131881
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (7)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 17459020
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 28358698 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 34267752 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 33736632 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 34267752 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hemoglobinopathies Hemoglobinopathy BEFREE 15976179
★★★★★
★☆☆☆☆
Found in Text Mining only
Hepatitis B Chronic Hepatitis b Pubtator 33736632 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Sort by:
CPPED1 2 shared diseasesCerebral amyloid angiopathy, Neuroblastoma 2 shared evidence sourcesGWAS catalog (Cerebral amyloid angiopathy), GWAS catalog (Neuroblastoma) Related via 2 shared diseases including Cerebral amyloid angiopathy, Neuroblastoma — evidence mostly GWAS catalog. SNX29 2 shared diseasesCerebral amyloid angiopathy, Neuroblastoma 2 shared evidence sourcesGWAS catalog (Cerebral amyloid angiopathy), GWAS catalog (Neuroblastoma) Related via 2 shared diseases including Cerebral amyloid angiopathy, Neuroblastoma — evidence mostly GWAS catalog. CFAP298-TCP10L 2 shared diseasesCerebral amyloid angiopathy, Neuroblastoma 3 shared evidence sourcesGWAS catalog (Cerebral amyloid angiopathy), GWAS catalog (Hepatocellular carcinoma), GWAS catalog (Neuroblastoma) Related via 2 shared diseases including Cerebral amyloid angiopathy, Neuroblastoma — evidence mostly GWAS catalog. DLGAP4 1 shared diseaseNeuroblastoma 2 shared evidence sourcesGWAS catalog (Hepatocellular carcinoma), GWAS catalog (Neuroblastoma) Related via 1 shared disease including Neuroblastoma — evidence mostly GWAS catalog. SLK 1 shared diseaseNeuroblastoma 2 shared evidence sourcesGWAS catalog (Hepatocellular carcinoma), GWAS catalog (Neuroblastoma) Related via 1 shared disease including Neuroblastoma — evidence mostly GWAS catalog.
Melanoma Linked via 4 of 5 related genesCPPED1, SNX29, DLGAP4, SLK Obesity Linked via 3 of 5 related genesCPPED1, SNX29, DLGAP4 Dementia Linked via 2 of 5 related genesCPPED1, SNX29 Diabetic ketoacidosis Linked via 2 of 5 related genesCPPED1, SNX29 Diabetes mellitus type 2 Linked via 2 of 5 related genesCPPED1, SNX29