Chromosome 17 (human)

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Chromosome 17 (human)
Human male karyotpe high resolution - Chromosome 17 cropped.png
Pair of human chromosome 17 (after G-banding).
One is from mother, one is from father.
Human male karyotpe high resolution - Chromosome 17.png
Chromosome 17 pair in human male karyogram.
Features
Length (bp) 83,257,441
Number of genes 2,432[1]
2,653[2]
Type Autosome
Centromere position Submetacentric[3]
Identifiers
RefSeq NC_000017
GenBank CM000679
Map of Chromosome 17
Ideogram of human chromosome 17. Mbp means mega base pair. See locus for other notation.

Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 83 million base pairs (the building material of DNA) and represents between 2.5 and 3% of the total DNA in cells.

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 9%, with one estimate giving 2,432[1] genes, and the other estimate giving 2,653[2] genes.

Chromosome 17 contains the Homeobox B gene cluster.

Genes[edit]

The following are some of the genes and their corresponding Cytogenetic location on chromosome 17:

q-arm[edit]

  • GRB7: Growth factor Receptor-Bound protein 7 (17q12)
  • RHBDF2: Rhomboid family member 2 (17q25.3)
  • RPS6KB1 or S6K: Ribosomal protein S6-kinase (17q23.1)
  • SCN4A: Voltage-Gated Sodium Channel Subunit Alpha Nav1.4 (17q23.3)
  • CBX1: chromobox homolog 1 (17q21.32)
  • ACTG1: actin, gamma 1 (17q25)
  • BRCA1: breast cancer 1, early onset (17q21)
  • COL1A1: collagen, type I, alpha 1 (17q21.33)
  • ERBB2 loca leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (17q12)
  • GALK1: galactokinase 1 (17q24)
  • GFAP: glial fibrillary acidic protein (17q21)
  • KCNJ2: potassium inwardly-rectifying channel, subfamily J, member 2 (17q24.3)
  • MAPT gene coding for encoding tau protein (17q21.1)
  • NF1: neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease) (17q11.2)
  • NOG: Noggin protein (17q22)
  • SLC4A1: Band 3 anion transporter protein. Solute carrier family 4, member 1 (17q21.31)
  • SLC6A4: Serotonin transporter linked to Obsessive Compulsive Disorder (OCD) [4] (17q11.2)
  • TMC6 and TMC8: Transmembrane channel-like 6 and 8 (epidermodysplasia verruciformis) (17q25.3)
  • USH1G: Usher syndrome 1G (autosomal recessive) (17q25.1)
  • RARA or RAR-alpha: Retinoic acid receptor Alpha (involved in t(15,17) with PML) (17q21)

p-arm[edit]

  • SHBG: Sex hormone binding globulin (17p13.1)
  • ACADVL: acyl-coenzyme A dehydrogenase, very long chain (17p13.1)
  • ASPA: aspartoacylase (Canavan disease) (17p13.3)
  • CTNS: cystinosin, the lysosomal cystine transporter (17p13)
  • FLCN: folliculin (17p11.2)
  • MYO15A: myosin XVA (17p11.2)
  • PMP22: peripheral myelin protein 22 (17p12)
  • TP53: tumor suppressor protein p53 (Li-Fraumeni syndrome), tumor suppressor gene (17p13.1)
  • RAI1: retinoic acid induced 1 (17p11.2)
  • USP6: Ubiquitin carboxyl-terminal hydrolase 6 linked to Aneurysmal bone cyst (17p13)

Diseases and disorders[edit]

Inactivating PH mutation in either the EVER1 or EVER2 genes, which are located adjacent to one another on chromosome 17 causes Epidermodysplasia verruciformis

The following diseases are related to genes on chromosome 17:

References[edit]

  1. ^ a b "Homo sapiens (human) Chromosome 17". NCBI Map Viewer. National Center for Biotechnology Information. Retrieved January 20, 2017. 
  2. ^ a b "Homo sapiens: Chromosome summary: Chromosome 17:1-83257441". Wellcome Trust Sanger Institute. Vega Genome Browser 58. Retrieved January 20, 2017. 
  3. ^ "Table 2.3: Human chromosome groups". Human Molecular Genetics (2nd ed.). Garland Science. 1999. 
  4. ^ "Obsessive Compulsive Disorder". An Online Catalog of Human Genes and Genetic Disorders.