Repulsive Guidance Molecule C (HFE2) (AK092682) Human Untagged Clone

CAT#: SC312917

(untagged)-Human cDNA FLJ35363 fis, clone SKMUS2000679

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: HFE2
• Synonyms: HFE2A|HJV|JH|RGMC
• Vector: pCMV6 series
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for AK092682, the custom clone sequence may differ by one or more nucleotides
  ATGATCCAGCACAACTGCTCCCGCCAGGGCCCTACAGCCCCTCCCCCGCCCCGGGGCCCC
  GCCCTTCCAGGCGCGGGCTCCGGCCTCCCTGCCCCGGACCCTTGTGACTATGAAGGCCGG
  TTTTCCCGGCTGCATGGTCGTCCCCCGGGGTTCTTGCATTGCGCTTCCTTCGGGGACCCC
  CATGTGCGCAGCTTCCACCATCACTTTCACACATGCCGTGTCCAAGGAGCTTGGCCTCTA
  CTGGATAATGACTTCCTCTTTGTCCAAGCCACCAGCTCCCCCATGGCGTTGGGGGCCAAC
  GCTACCGCCACCCGGAAGCTCACCATCATATTTAAGAACATGCAGGAATGCATTGATCAG
  AAGGTGTATCAGGCTGAGGTGGATAATCTTCCTGTAGCCTTTGAAGATGGTTCTATCAAT
  GGAGGTGACCGACCTGGGGGATCCAGTTTGTCGATTCAAACTGCTAACCCTGGGAACCAT
  GTGGAGATCCAAGCTGCCTACATTGGCACAACTATAATCATTCGGCAGACAGCTGGGCAG
  CTCTCCTTCTCCATCGAGGTAGCAGAGGATGTGGCCATGGCCTTCTCAGCTGAACAGGAC
  CTGCAGCTCTGTGTTGGGGGGTGCCCTCCAAGTCAGCGACTCTCTCGATCAGAGCGCAAT
  CGTCGGGGAGCTATAACCATTGATACTGCCAGACGGCTGTGCAAGGAAGGGCTTCCAGTG
  GAAGATGCTTACTTCCATTCCTGTGTCTTTGATGTTTTAATTTCTGGTGATCCCAACTTT
  ACCGTGGCAGCTCAGGCAGCACTGGAGGATGCCCGAGCCTTCCTGCCAGACTTAGAGAAG
  CTGCATCTCTTCCCCTCAGATGCTGGGGTTCCTCTTTCCTCAGCAACCCTCTTAGCTCCA
  CTCCTTTCTGGGCTCTTTGTTCTGTGGCTTTGCATTCAG
  
• Restriction Sites: Please inquire
• ACCN: AK092682
• ORF Size: 942 bp
• OTI Disclaimer: Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP).
• OTI Annotation: This TrueClone is provided through our Custom Cloning Process that includes sub-cloning into OriGene's pCMV6 vector and full sequencing to provide a non-variant match to the expected reference without frameshifts, and is delivered as lyophilized plasmid DNA.

Reference Data

• RefSeq: AK092682.1, BAC03944.1
• RefSeq Size: 1936
• RefSeq ORF: 942
• Locus ID: 148738
• Protein Families: Transmembrane
• Gene Summary: The product of this gene is involved in iron metabolism. It may be a component of the signaling pathway which activates hepcidin or it may act as a modulator of hepcidin expression. It could also represent the cellular receptor for hepcidin. Two uORFs in the 5' UTR negatively regulate the expression and activity of the encoded protein. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. Defects in this gene are the cause of hemochromatosis type 2A, also called juvenile hemochromatosis (JH). JH is an early-onset autosomal recessive disorder due to severe iron overload resulting in hypogonadotrophic hypogonadism, hepatic fibrosis or cirrhosis and cardiomyopathy, occurring typically before age of 30. [provided by RefSeq, Oct 2015]