Chromosome 4 (human)
From Infogalactic: the planetary knowledge core
| Chromosome 4 (human) | |
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Human chromosome 4 pair after G-banding. One is from mother, one is from father.
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Chromosome 4 pair in human male karyogram.
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| Features | |
| Length (bp) | 190,214,555 bp[citation needed] |
| Number of genes | 1,702 |
| Type | Autosome |
| Centromere position | Submetacentric[1] |
| Identifiers | |
| RefSeq | NC_000004 |
| GenBank | CM000666 |
Chromosome 4 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 4 spans more than 186 million base pairs (the building material of DNA)[citation needed] and represents between 6 and 6.5 percent of the total DNA in cells.
Genomics
The chromosome is ~191 megabases in length.[citation needed] 757 protein encoding genes have been identified on this chromosome to date.[2] 211 (27.9%) of these coding sequences currently do not have any experimental evidence at the protein level. 271 appear to be membrane proteins. 54 have been classified as cancer associated proteins.
Genes
The following are some of the genes located on chromosome 4:
- ANK2: ankyrin 2, neuronal
- ACVR1: activin-like kinase 2 (ALK-2)
- Complement Factor I: Complement Factor I
- CRMP1: Collapsin response mediator protein 1, a member of CRMP family
- CXCL1: chemokine (C-X-C motif) ligand 1, scyb1
- CXCL2: chemokine (C-X-C motif) ligand 2, scyb2
- CXCL3: chemokine (C-X-C motif) ligand 3, scyb3
- CXCL4: chemokine (C-X-C motif) ligand 4, Platelet factor-4, PF-4, scyb4
- CXCL5: chemokine (C-X-C motif) ligand 5, scyb5
- CXCL6: chemokine (C-X-C motif) ligand 6, scyb6
- CXCL7: chemokine (C-X-C motif) ligand 7, PPBP, scyb7
- CXCL8: chemokine (C-X-C motif) ligand 8, interleukin 8 (IL-8), scyb8
- CXCL9: chemokine (C-X-C motif) ligand 9, scyb9
- CXCL10: chemokine (C-X-C motif) ligand 10, scyb10
- CXCL11: chemokine (C-X-C motif) ligand 11, scyb11
- CXCL13: chemokine (C-X-C motif) ligand 13, scyb13
- DUX4: Thought to be inactive but 2010 research shows a key role in FSHD[3]
- EVC: Ellis van Creveld syndrome
- EVC2: Ellis van Creveld syndrome 2 (limbin)
- Factor XI: Mutations cause Haemophilia C
- FGF2: Fibroblast growth factor 2 (basic fibroblast growth factor)
- FGFR3: fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism, bladder cancer)
- FGFRL1: fibroblast growth factor receptor-like 1
- HCL2 (also called RHA or RHC): related to red hair
- HTT (Huntingtin): huntingtin protein (Huntington's disease)
- IGJ: linker protein for immunoglobulin alpha and mu polypeptides
- KDR: Kinase insert domain receptor (Vascular endothelial growth factor receptor 2)
- MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type
- PHOX2B: codes for a homeodomain transcription factor
- PKD2: polycystic kidney disease 2 (autosomal dominant)
- PLK4: Serine/threonine-protein kinase PLK4
- QDPR: quinoid dihydropteridine reductase
- STATH: gene with protein product
- SNCA: synuclein, alpha (non A4 component of amyloid precursor)
- UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
- UNC5C: netrin receptor UNC5C
- WFS1: Wolfram syndrome 1 (wolframin)
Diseases & disorders
The following are some of the diseases related to genes located on chromosome 4:
- Achondroplasia
- Autosomal dominant polycystic kidney disease (PKD-2)
- Bladder cancer
- Crouzonodermoskeletal syndrome
- Chronic lymphocytic leukemia
- Ellis-van Creveld syndrome
- Facioscapulohumeral muscular dystrophy
- Fibrodysplasia ossificans progressiva (FOP)
- Haemophilia C
- Huntington's disease
- Hemolytic uremic syndrome
- Hereditary benign intraepithelial dyskeratosis
- Hirschprung's disease
- Hypochondroplasia
- Methylmalonic acidemia
- Muenke syndrome
- Nonsyndromic deafness
- Nonsyndromic deafness, autosomal dominant
- Ondine's curse
- Parkinson's disease
- Polycystic kidney disease
- Romano-Ward syndrome
- SADDAN
- Tetrahydrobiopterin deficiency
- Thanatophoric dysplasia
- Wolfram syndrome
- Wolf–Hirschhorn syndrome
References
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- ↑ Chen LC, Liu MY, Hsiao YC, Choong WK, Wu HY, Hsu WL, Liao PC, Sung TY, Tsai SF, Yu JS, Chen YJ (2012) Decoding the disease-associated proteins enoded in the human chromosome 4. J Proteome Res
- ↑ Lua error in package.lua at line 80: module 'strict' not found.
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