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Chromosome 7

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Chromosome 7
Human chromosome 7 pair after G-banding.
One is from mother, one is from father.
Chromosome 7 pair
in human male karyogram.
Features
Length (bp)159,345,973 bp
(GRCh38)[1]
No. of genes862 (CCDS)[2]
TypeAutosome
Centromere positionSubmetacentric[3]
(60.1 Mbp[4])
Complete gene lists
CCDSGene list
HGNCGene list
UniProtGene list
NCBIGene list
External map viewers
EnsemblChromosome 7
EntrezChromosome 7
NCBIChromosome 7
UCSCChromosome 7
Full DNA sequences
RefSeqNC_000007 (FASTA)
GenBankCM000669 (FASTA)

Chromosome 7 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 7 spans about 159 million[5] base pairs (the building material of DNA) and represents between 5 and 5.5 percent of the total DNA in cells.

Genes

Number of genes

The following are some of the gene count estimates of human chromosome 7. Because researchers use different approaches to genome annotation their predictions of the number of genes on each chromosome varies (for technical details, see gene prediction). Among various projects, the collaborative consensus coding sequence project (CCDS) takes an extremely conservative strategy. So CCDS's gene number prediction represents a lower bound on the total number of human protein-coding genes.[6]

Estimated by Protein-coding genes Non-coding RNA genes Pseudogenes Source Release date
CCDS 862 - - [2] 2016-09-08
HGNC 870 245 703 [7] 2017-05-12
Ensembl 984 973 889 [8] 2017-03-29
UniProt 944 - - [9] 2018-02-28
NCBI 948 905 933 [10][11][12] 2017-05-19

Gene list

See also: Category:Genes on human chromosome 7

The following is a partial list of genes on human chromosome 7. For complete list, see the link in the infobox on the right.

  • ACTR3B: actin-related protein 3B
  • AEBP1: AE binding protein 1
  • AGK: encoding enzyme mitochondrial acylglycerol kinase
  • AASS: encoding enzyme Alpha-aminoadipic semialdehyde synthase, mitochondrial
  • ARHGEF35: encoding protein Rho guanine nucleotide exchange factor (GEF) 35
  • BCAP29: B-cell receptor-associated protein 29
  • BRAT1: BRCA1-associated ATM activator 1
  • C7orf20: encoding protein UPF0363 protein C7orf20
  • C7orf25: protein UPF0415
  • C7orf31: chromosome 7 open reading frame 31
  • C7orf43: encoding protein
  • CALU: Calumenin
  • CDCA7L: Cell division cycle-associated 7-like protein
  • CNOT4: CCR4-NOT transcription complex, subunit 4
  • CPED1: cadherin like and PC-esterase domain containing 1
  • CPVL: carboxypeptidase, vitellogenic like
  • CROT: Peroxisomal carnitine O-octanoyltransferase
  • DDX56: DEAD-box helicase 56
  • DMTF1: Cyclin D binding myb like transcription factor 1
  • ECOP: EGFR-coamplified and overexpressed protein
  • EZH2: encoding enzyme histone-lysine N-methyltransferase for histone h3 lysine 27
  • FAM71F2: family with sequence similarity 71 member F2
  • FAM185A: family with sequence similarity 185 member A
  • FAM200A: family with sequence similarity 200 member A
  • FBXO24: F-box only protein 24
  • GBAS: Glioblastoma amplified sequence; Protein NipSnap homolog 2
  • GLCCI1: Glucocorticoid-induced transcript 1 protein
  • ICA1: islet cell autoantigen 1
  • ING3: inhibitor of growth protein 3
  • INTS1: encoding protein Integrator complex subunit 1
  • IQCE: IQ domain-containing protein E
  • KDM7A: encoding protein Lysine demethylase 7A
  • LRRC17: leucine-rich repeat containing protein 17
  • LSM5: U6 small nuclear RNA and mRNA degradation associated
  • LUC7L2: putative RNA-binding protein Luc7-like 2
  • MDFIC: MyoD family inhibitor domain containing
  • METTL2B: methyltransferase-like protein 2B
  • MINDY4: MINDY lysine 48 deubiquitinase 4
  • MIR96: microRNA 96
  • MOSPD3: motile sperm domain containing 3
  • MTERF: mitochondrial transcription termination factor 1
  • NOM1: nucleolar protein with MIF4G domain 1
  • NUDCD3: NudC domain-containing protein 3
  • NUPL2: nucleoporin-like 2
  • NXPH1: neurexophilin-1
  • PDAP1: PDGFA associated protein 1
  • PHTF2: putative homeodomain transcription factor 2
  • PLOD3: procollagen-lysine,2-oxoglutarate 5-dioxygenase 3
  • POM121: POM121 transmembrane nucleoporin
  • POP7: ribonuclease P protein subunit p20
  • PPP1R17: protein phosphatase 1 regulatory subunit 17
  • PSPH: phosphoserine phosphatase
  • PURB: purine-rich element binding protein B
  • PVRIG: encoding protein Poliovirus receptor related immunoglobulin domain containing
  • RADIL: ras-associating and dilute domain-containing protein
  • RCP9: DNA-directed RNA polymerase III subunit RCP9
  • REPIN1: replication initiator 1
  • RNF216-IT1: encoding protein RNF216 intronic transcript 1
  • SCIN: scinderin
  • SCRN1: secernin 1
  • SOSTDC1: sclerostin domain containing 1
  • SPDYE1: speedy/RINGO cell cycle regulator family member E1
  • SSC4D: scavenger receptor cysteine rich family member with 4 domains
  • STEAP1: six transmembrane epithelial antigen of the prostate 1
  • STEAP2: six transmembrane epithelial antigen of the prostate 2
  • STEAP4: six transmembrane epithelial antigen of the prostate 4
  • STYXL1: serine/threonine/tyrosine-interacting-like protein 1
  • SUMF2: sulatase-modifying factor 2
  • SYPL1: synaptophysin-like protein 1
  • TARP: TCR gamma alternate reading frame protein
  • TBRG4: transforming growth factor beta regulator 4
  • TECPR1 encoding protein Tectonin beta-propeller repeat containing 1
  • TMED4: transmembrane emp24 domain-containing protein 4
  • TMEM130: transmembrane protein 130
  • TMEM196 encoding protein Transmembrane protein 196
  • TRBC1 encoding protein T cell receptor beta constant 1
  • TRBC2 encoding protein T cell receptor beta constant 2
  • TRIL: TRL4 interactor with leucine rich repeats
  • URG4: up-regulated gene 4
  • WBSCR17: polypeptide N-acetylgalactosaminyltransferase 17
  • WDR91 encoding protein WD repeat domain 91
  • ZC3HAV1: zinc finger CCCH-type containing
  • ZC3HC1: zinc finger C3HC-type containing 1
  • ZKSCAN1: zinc finger protein with KRAB and SCAN domains 1
  • ZKSCAN5: zinc finger protein with KRAB and SCAN domains 5
  • ZMIZ2: zinc finger MIZ domain-containing protein 2
  • ZNF277P: zinc finger protein 277
  • ZNF394: zinc finger protein 394
  • ZNF398: zinc finger protein 398
  • ZNF727: encoding protein Zinc finger protein 727
  • ZNF786: encoding protein Zinc finger protein 786
  • ZRF1: DnaJ heat shock protein family (Hsp40) member C2
  • ZSCAN21: zinc finger and SCAN domain-containing protein 21

Diseases and disorders

The following diseases are some of those related to genes on chromosome 7:

Chromosomal disorders

The following conditions are caused by changes in the structure or number of copies of chromosome 7:

  • Williams syndrome is caused by the deletion of genetic material from a portion of the long (q) arm of chromosome 7. The deleted region, which is located at position 11.23 (written as 7q11.23), is designated as the Williams syndrome critical region. This region includes more than 20 genes, and researchers believe that the characteristic features of Williams syndrome are probably related to the loss of multiple genes in this region.

While a few of the specific genes related to Williams syndrome have been identified, the relationship between most of the genes in the deleted region and the signs and symptoms of Williams syndrome is unknown.

  • Other changes in the number or structure of chromosome 7 can cause delayed growth and development, mental disorder, characteristic facial features, skeletal abnormalities, delayed speech, and other medical problems. These changes include an extra copy of part of chromosome 7 in each cell (partial trisomy 7) or a missing segment of the chromosome in each cell (partial monosomy 7). In some cases, several DNA building blocks (nucleotides) are deleted or duplicated in part of chromosome 7. A circular structure called ring chromosome 7 is also possible. A ring chromosome occurs when both ends of a broken chromosome are reunited.[23]

Cytogenetic band

G-banding ideograms of human chromosome 7
G-banding ideogram of human chromosome 7 in resolution 850 bphs. Band length in this diagram is proportional to base-pair length. This type of ideogram is generally used in genome browsers (e.g. Ensembl, UCSC Genome Browser).
G-banding patterns of human chromosome 7 in three different resolutions (400,[24] 550[25] and 850[4]). Band length in this diagram is based on the ideograms from ISCN (2013).[26] This type of ideogram represents actual relative band length observed under a microscope at the different moments during the mitotic process.[27]
G-bands of human chromosome 7 in resolution 850 bphs[4]
Chr. Arm[28] Band[29] ISCN
start[30] 		ISCN
stop[30] 		Basepair
start 		Basepair
stop 		Stain[31] Density
7 p 22.3 0 227 1 2,800,000 gneg
7 p 22.2 227 397 2,800,001 4,500,000 gpos 25
7 p 22.1 397 610 4,500,001 7,200,000 gneg
7 p 21.3 610 908 7,200,001 13,700,000 gpos 100
7 p 21.2 908 965 13,700,001 16,500,000 gneg
7 p 21.1 965 1121 16,500,001 20,900,000 gpos 100
7 p 15.3 1121 1419 20,900,001 25,500,000 gneg
7 p 15.2 1419 1589 25,500,001 27,900,000 gpos 50
7 p 15.1 1589 1816 27,900,001 28,800,000 gneg
7 p 14.3 1816 1986 28,800,001 34,900,000 gpos 75
7 p 14.2 1986 2043 34,900,001 37,100,000 gneg
7 p 14.1 2043 2327 37,100,001 43,300,000 gpos 75
7 p 13 2327 2639 43,300,001 45,400,000 gneg
7 p 12.3 2639 2838 45,400,001 49,000,000 gpos 75
7 p 12.2 2838 2909 49,000,001 50,500,000 gneg
7 p 12.1 2909 3093 50,500,001 53,900,000 gpos 75
7 p 11.2 3093 3306 53,900,001 58,100,000 gneg
7 p 11.1 3306 3448 58,100,001 60,100,000 acen
7 q 11.1 3448 3689 60,100,001 62,100,000 acen
7 q 11.21 3689 3973 62,100,001 67,500,000 gneg
7 q 11.22 3973 4171 67,500,001 72,700,000 gpos 50
7 q 11.23 4171 4597 72,700,001 77,900,000 gneg
7 q 21.11 4597 4994 77,900,001 86,700,000 gpos 100
7 q 21.12 4994 5108 86,700,001 88,500,000 gneg
7 q 21.13 5108 5292 88,500,001 91,500,000 gpos 75
7 q 21.2 5292 5406 91,500,001 93,300,000 gneg
7 q 21.3 5406 5661 93,300,001 98,400,000 gpos 75
7 q 22.1 5661 6129 98,400,001 104,200,000 gneg
7 q 22.2 6129 6300 104,200,001 104,900,000 gpos 50
7 q 22.3 6300 6470 104,900,001 107,800,000 gneg
7 q 31.1 6470 6683 107,800,001 115,000,000 gpos 75
7 q 31.2 6683 6867 115,000,001 117,700,000 gneg
7 q 31.31 6867 7094 117,700,001 121,400,000 gpos 75
7 q 31.32 7094 7208 121,400,001 124,100,000 gneg
7 q 31.33 7208 7364 124,100,001 127,500,000 gpos 75
7 q 32.1 7364 7449 127,500,001 129,600,000 gneg
7 q 32.2 7449 7576 129,600,001 130,800,000 gpos 25
7 q 32.3 7576 7803 130,800,001 132,900,000 gneg
7 q 33 7803 8031 132,900,001 138,500,000 gpos 50
7 q 34 8031 8371 138,500,001 143,400,000 gneg
7 q 35 8371 8612 143,400,001 148,200,000 gpos 75
7 q 36.1 8612 8910 148,200,001 152,800,000 gneg
7 q 36.2 8910 9080 152,800,001 155,200,000 gpos 25
7 q 36.3 9080 9350 155,200,001 159,345,973 gneg

Novels

In the novel Performance Anomalies, researchers at Stanford University identify mutations in the long (q) arm of chromosome 7 as underlying the accelerated nervous system of the spy protagonist Cono,[32] who receives the moniker Cono 7Q

References

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  28. ^ "p": Short arm; "q": Long arm.
  29. ^ For cytogenetic banding nomenclature, see article locus.
  30. ^ a b These values (ISCN start/stop) are based on the length of bands/ideograms from the ISCN book, An International System for Human Cytogenetic Nomenclature (2013). Arbitrary unit.
  31. ^ gpos: Region which is positively stained by G banding, generally AT-rich and gene poor; gneg: Region which is negatively stained by G banding, generally CG-rich and gene rich; acen Centromere. var: Variable region; stalk: Stalk.
  32. ^ Lee, Victor Robert (2013-01-15). Performance Anomalies: A Novel. Perimeter Six Press. ISBN 9781938409202.

Further reading

  • Rodríguez L, López F, Paisán L, de la Red Mdel M, Ruiz AM, Blanco M, Antelo Cortizas J, Martínez-Frías ML (Nov 2002). "Pure partial trisomy 7q: two new patients and review". American Journal of Medical Genetics. 113 (2): 218–24. doi:10.1002/ajmg.10719. PMID 12407716.
Wikimedia Commons has media related to Human chromosome 7.
  • National Institutes of Health. "Chromosome 7". Genetics Home Reference. Retrieved 2017-05-06.
  • "Chromosome 7". Human Genome Project Information Archive 1990–2003. Retrieved 2017-05-06.
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