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Gene : HMCN1 Homo sapiens

Name  ? hemicentin 1 Cytological Location  1q25.3-q31.1
Brief Description  hemicentin 1
Description  This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]
  • synonyms:
  • FBLN6,
  • HGNC:19194,
  • NM_031935,
  • ARMD1,
  • age-related macular degeneration 1 (senile macular degeneration),
  • HMCN1,
  • fibulin 6,
  • ARMD1,
  • OTTHUMG00000059337,
  • FBLN6,
  • AF156100,
  • FIBL6,
  • FIBL6,
  • FIBL-6,
  • FIBL-6,
  • uc001grq.2
  • identifiers:
  • 83872,
  • ENSG00000143341,
  • HMCN1

Genome feature

Region: gene ? Length: 456559  
Location: 1:185734391-186190949 Cyto location: 1q25.3-q31.1


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Function

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

0 Pathways

3753 SN Ps

5 Cross References

18 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results