Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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55027
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Gene name
Gene Name - the full gene name approved by the HGNC.
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HEAT repeat containing 3 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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HEATR3 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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DBA21, SYO1, hsSyo1 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
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DBA21 |
Chromosome
Chromosome number
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16 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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16q12.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene plays a role in ribosomal protein transport and in the assembly of the 5S ribonucleoprotein particle (5S RNP). The encoded protein also may be involved in NOD2-mediated NF-kappaB signaling. [provided by RefSeq, Jul 2016] |
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Carcinoma |
Squamous cell carcinoma |
rs121912654, rs555607708, rs786202962, rs1564055259 |
22960999 |
Esophagus neoplasm |
Esophageal Neoplasms |
rs28934578, rs121918714, rs1567556006, rs1575166666 |
22960999 |
Glioblastoma |
Glioblastoma, Glioblastoma Multiforme |
rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888 |
28346443 |
Glioma |
Glioma |
rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701 View all (13 more) |
28346443 |
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Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Anemia |
Diamond-Blackfan anemia 21 |
|
|
GenCC |
Testicular Germ Cell Tumor |
Testicular Germ Cell Tumor |
|
|
GWAS |
Systemic lupus erythematosus |
Systemic lupus erythematosus |
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|
GWAS |
Uterine Fibroids |
Uterine Fibroids |
|
|
GWAS |
Alzheimer disease |
Alzheimer disease |
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|
GWAS |
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Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Acromelic frontonasal dysplasia |
Associate
|
35213692 |
Anemia Diamond Blackfan |
Associate
|
35213692 |
Bone Marrow Failure Disorders |
Associate
|
35213692 |
Crohn Disease |
Associate
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23615072 |
Glioblastoma |
Associate
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37085538 |
Glioma |
Associate
|
37085538 |
Growth Disorders |
Associate
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35213692 |
Intellectual Disability |
Associate
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35213692 |
|