Chromosome 7 · Lablypedia

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.

Partial gene list

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

AASS: encoding enzyme Alpha-aminoadipic semialdehyde synthase, mitochondrial
ACTR3B: actin-related protein 3B
AEBP1: AE binding protein 1
AGK: encoding enzyme mitochondrial acylglycerol kinase
ARHGEF35: encoding protein Rho guanine nucleotide exchange factor (GEF) 35
AVL9: encoding protein Avl9 cell migration associated
BCAP29: B-cell receptor-associated protein 29
BCC6: encoding protein basal cell carcinoma, susceptibility to, 6
BRAT1: BRCA1-associated ATM activator 1
C7orf25: protein UPF0415
C7orf31: chromosome 7 open reading frame 31
CALU: Calumenin
CCL24: encoding protein C-C motif chemokine ligand 24
CDCA7L: Cell division cycle-associated 7-like protein
CFTR: anion channel membrane 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
EEPD1: encoding protein Endonuclease/exonuclease/phosphatase family domain containing 1
EGFR-AS1: encoding protein EGFR antisense RNA 1
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
GET4: encoding protein GET4
GLCCI1: Glucocorticoid-induced transcript 1 protein
HOXA@: encoding protein Homeobox a cluster
HOXA10-HOXA9: readthrough gene unlikely to produce a protein product
HPC4: Prostate cancer, hereditary, 4
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
LCHN: protein encoded by the KIAA1147 gene
LHFPL3: LHFPL tetraspan subfamily member 3
LINC01003: encoding long intergenic non-protein coding RNA 1003
LRRC17: leucine-rich repeat containing protein 17
LRRC61: encoding protein Leucine rich repeat containing 61
LRRD1: encoding protein Leucine-rich repeats and death domain containing 1
LSM5: U6 small nuclear RNA and mRNA degradation associated
LUC7L2: putative RNA-binding protein Luc7-like 2
MACC1: encoding protein Macc1, met transcriptional regulator
MAP11: encoding protein Microtubule-associated protein 11
MDFIC: MyoD family inhibitor domain containing
METTL2B: methyltransferase-like protein 2B
MINDY4: MINDY lysine 48 deubiquitinase 4
MIR93: encoding protein MicroRNA 93
MIR148A: encoding protein MicroRNA 148a
MIR196B: encoding protein MicroRNA 196b
MIR548F4: encoding protein MicroRNA 548f-4
MIR96: microRNA 96
MOSPD3: motile sperm domain containing 3
MTERF: mitochondrial transcription termination factor 1
MTRNR2L6: encoding protein MT-RNR2-like 6
NOM1: nucleolar protein with MIF4G domain 1
NUDCD3: NudC domain-containing protein 3
NUPL2: nucleoporin-like 2
NXPH1: neurexophilin-1
OPN1SW: blue-sensitive opsin
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
RASA4B: encoding protein RAS p21 protein activator 4B
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
SEMA3E: encoding protein Semaphorin 3E
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
TMEM243: encoding protein Transmembrane protein 243
TNRC18: encoding protein Trinucleotide repeat containing 18
TRBC1 encoding protein T cell receptor beta constant 1
TRBC2 encoding protein T cell receptor beta constant 2
TRGV1: encoding protein T cell receptor gamma variable 1 (non-functional)
TRIL: TRL4 interactor with leucine rich repeats
UPK3B: encoding protein Uroplakin 3B
URG4: up-regulated gene 4
WBSCR17: polypeptide N-acetylgalactosaminyltransferase 17
WDR91 encoding protein WD repeat domain 91
WEE2-AS1: encoding protein WEE2 antisense RNA 1
XKR5: encoding protein XK, Kell blood group complex subunit-related family, member 5
ZC3HAV1: zinc finger CCCH-type containing
ZC3HC1: zinc finger C3HC-type containing 1
ZNF106: encoding protein Zinc finger protein 106
ZNF117: encoding protein Zinc finger protein 117
ZNF394: zinc finger protein 394
ZNF398: zinc finger protein 398
ZNF679: encoding protein Zinc finger protein 679
ZNF716: encoding protein Zinc finger protein 716
ZNF727: encoding protein Zinc finger protein 727
ZNF786: encoding protein Zinc finger protein 786
ZNF853: encoding protein Zinc finger protein 853
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
ZRF1: DnaJ heat shock protein family (Hsp40) member C2
ZSCAN21: zinc finger and SCAN domain-containing protein 21

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Diseases and disorders

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

7p22.1 microduplication syndrome
argininosuccinic aciduria
cerebral cavernous malformation
Charcot–Marie–Tooth disease
Cholestasis, progressive familial intrahepatic 3
Citrullinemia, type II, adult-onset,
congenital bilateral absence of vas deferens
cystic fibrosis
Developmental verbal dyspraxia
distal spinal muscular atrophy, type V
Ehlers–Danlos syndrome
hemochromatosis, type 3
Hereditary nonpolyposis colorectal cancer HNPCC4
Lissencephaly syndrome, norman-roberts type
Marfan syndrome
maple syrup urine disease
maturity onset diabetes of the young type 3
mucopolysaccharidosis type VII or Sly syndrome
Muscular dystrophy, limb-girdle, type 1D
myelodysplastic syndrome
Myotonia congenita
nonsyndromic deafness
O'Donnell-Luria–Rodan syndrome
osteogenesis imperfecta
p47-phox-deficient chronic granulomatous disease
Pectus excavatum
Pendred syndrome
Romano–Ward syndrome
Shwachman–Diamond syndrome
Schizophrenia
Silver-Russell syndrome
Specific language impairment
Tritanopia or tritanomaly color blindness
Williams syndrome
Zellweger syndrome

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.

Cytogenetic band

In popular culture

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, who receives the moniker Cono 7Q