Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | COL6A2 | contributors: mct/npt - updated : 09-06-2010 |
HGNC name | collagen, type VI, alpha 2 |
HGNC id | 2212 |
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Corresponding disease |
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Location | 21q22.3 Physical location : 47.518.032 - 47.552.763 | ||||||
Synonym name | |||||||
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Synonym symbol(s) | BTHM1, PP3610, DKFZp586E1322, FLJ46862 |
DNA |
TYPE | functioning gene |
SPECIAL FEATURE | head to head |
text | head to head with COL6A1 |
STRUCTURE | 34.73 kb 28 Exon(s) |
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10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | N | status | confirmed |
Map | see PFKL PFKL |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | ubiquitous |
constitutive of |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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tissue |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
physiological period | pregnancy |
Text | placenta |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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conjugated | GlycoP |
mono polymer | heteromer , trimer |
HOMOLOGY |
Homologene |
FAMILY |
CATEGORY | structural protein |
SUBCELLULAR LOCALIZATION | extracellular |
text | extracellular matrix |
basic FUNCTION | |
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CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS |
PATHWAY |
metabolism |
signaling |
COL6A1, COL6A2, CRELD1, FBLN2, FRZB, and GATA5 harboring purportedly deleterious case-specific variants in atrioventricular septal defects (AVSD)are associated in some way with VEGFA ![]() |
a component | |
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INTERACTION |
DNA |
RNA |
small molecule |
protein | |
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cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | BTHM1 , UCMD1 , MYSC |
Susceptibility | to Down-syndrome atrioventricular septal defects |
Variant & Polymorphism
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Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |