Neha Patil (Editor)

Chromosome 12 (human)

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Length (bp)
  
133,275,309 bp

Type
  
Autosome

RefSeq
  
NC_000012

No. of genes
  
2,5211,676

Centromere position
  
Submetacentric

GenBank
  
CM000674

Chromosome 12 (human)

Chromosome 12 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 12 spans about 133 million base pairs (the building material of DNA) and represents between 4 and 4.5 percent of the total DNA in cells.

Contents

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies. In January 2017, two estimates differed by 66%, with one estimate giving 2,521 genes, and the other estimate giving 1,676 genes.

Chromosome 12 contains the Homeobox C gene cluster.

Genes

The following are some of the genes located on chromosome 12:

  • ACSS3: encoding protein Acyl-CoA synthetase short-chain family member 3
  • ACVRL1: activin A receptor type II-like 1f
  • APOLD1: apolipoprotein L domain containing 1
  • APOF: encoding protein Apolipoprotein F
  • ARPC3: encoding protein Actin-related protein 2/3 complex subunit 3
  • ATG101: Autophagy-related protein 101
  • C12orf42: encoding protein uncharacterised chromosome 12 open reading frame 42
  • CBX5: chromobox homolog 5
  • COL2A1: collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)
  • HPD: 4-hydroxyphenylpyruvate dioxygenase
  • FAM60A: encoding protein FAM60A
  • GPN3: encoding enzyme GPN-loop GTPase 3
  • KCNA1: potassium voltage-gated channel subfamily A member 1 at 12p13.32
  • KERA: keratocan
  • KRAS: V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
  • LRRK2: leucine-rich repeat kinase 2
  • MMAB: methylmalonic aciduria (cobalamin deficiency) cblB type
  • MYO1A: myosin IA
  • NANOG: NK-2 type homeodomain gene
  • PAH: phenylalanine hydroxylase
  • PPP1R12A: protein phosphatase 1, regulatory (inhibitor) subungfdit 12A
  • PTPN11: protein tyrosine phosphatase, non-receptor type 11 (Noonan syndrome 1)

    • Diseases and disorders

    The following diseases are some of those related to genes on chromosome 12:

  • achondrogenesis type 2
  • collagenopathy, types II and XI
  • cornea plana 2
  • episodic ataxia
  • hereditary hemorrhagic telangiectasia
  • hypochondrogenesis
  • ichthyosis bullosa of Siemens
  • Kniest dysplasia
  • Kabuki syndrome
  • maturity onset diabetes of the young type 3
  • methylmalonic acidemia
  • narcolepsy
  • nonsyndromic deafness
  • nonsyndromic deafness, autosomal dominant
  • Noonan syndrome
  • Parkinson disease
  • Pallister-Killian syndrome (tetrasomy 12p)
  • phenylketonuria
  • spondyloepimetaphyseal dysplasia, Strudwick type
  • spondyloepiphyseal dysplasia congenita
  • spondyloperipheral dysplasia
  • Stickler syndrome, (COL2A1-related)
  • Stuttering
  • Triose Phosphate Isomerase deficiency
  • tyrosinemia
  • Von Willebrand Disease

    • References

    Chromosome 12 (human) Wikipedia
    (Text) CC BY-SA


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