Chromosome 6 (human)
Template:Infobox chromosome Chromosome 6 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 6 spans more than 170 million base pairs (the building material of DNA) and represents between 5.5 and 6% of the total DNA in cells. It contains the Major Histocompatibility Complex, which contains over 100 genes related to the immune response, and plays a vital role in organ transplantation.
Template:Category see also The human leukocyte antigen lies on chromosome 6, with the exception of the gene for β2-microglobulin (which is located on chromosome 15), and encodes cell-surface antigen-presenting proteins among other functions.
Number of genes
The following are some of the newer gene count estimates. 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.
|Estimated by||Protein-coding genes||Non-coding RNA genes||Pseudogenes||Source||Release date|
Some genes requiring arm identification are:
- C6orf35 encoding protein UPF0463 transmembrane protein C6orf35
- LY6G6E encoding protein Lymphocyte antigen 6 complex, locus G6E (pseudogene)
- TMEM151B encoding protein Transmembrane protein 151B
- TP53COR1 encoding protein Tumor protein p53 pathway corepressor 1 (non-protein coding)
The following are some of the genes located on p-arm (short arm) of human chromosome 6:
- ADTRP: encoding protein Androgen-dependent TFPI-regulating protein
- APOM: encoding protein Apolipoprotein M (6p21.33)
- C6orf10: encoding protein Uncharacterized protein C6orf10 (6p21.32)
- C6orf62: chromosome 6 open reading frame 62 (6p22.3)
- C6orf89: chromosome 6 open reading frame 89 (6p21.2)
- CDKAL1: CDK5 regulatory subunit associated protein 1 like 1 (6p22.3)
- COL11A2: collagen, type XI, alpha 2(6p21.3)
- CYP21A2: cytochrome P450, family 21, subfamily A, polypeptide 2 (6p21.33)
- DHX16: DEAH-box helicase 16 (6p21.33)
- DOM3Z: Decapping exoribonuclease (6p21.33)
- DSP: Desmoplakin gene linked to cardiomyopathy (6p24.3)
- ELOVL5: ELOVL fatty acid elongase 5 (6p12.1)
- FBXO9: F-box protein 9 (6p12.1)
- G6B: Protein G6b (6p21.33)
- GCNT2: N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase (6p24.3)
- GMDS: GDP-mannose 4,6-dehydratase (6p25.3)
- HCG4P11: HLA complex group 4 pseudogene 11
- HFE: hemochromatosis (6p21.3)
- HIST1H2AH: histone cluster 1 H2A family member h (6p22.1)
- HLA-A, HLA-B, HLA-C: major histocompatibility complex (MHC), class I, A, B, and C loci. (6p21.3)
- HLA-DQA1 and HLA-DQB1 form HLA-DQ heterodimer MHC class II, DQ: Celiac1, IDDM (6p21.3)
- HLA-DRA, HLA-DRB1, HLA-DRB3, HLA-DRB4, HLA-DRB5 forms HLA-DR, heterodimer MHC class II, DR (6p21.3)
- HLA-DPA1 and HLA-DPB1 forms HLA-DR, MHC class II, DP (6p21.3)
- HLA-Cw*06:02: gene variation related to psoriasis (6p21.3)
- LST1: leukocyte specific transcript 1 (6p21.33)
- MIR4640: microRNA 4640 (6p21.33)
- MLIP: muscular LMNA interaction protein (6p12.1)
- MRPS18B: mitochondrial ribosomal protein S18B (6p21.33)
- MUT: methylmalonyl Coenzyme A mutase (6p12.3)
- NHLRC1: NHL repeat containing E3 ubiquitin protein ligase 1 (6p22.3)
- NOL7: nucleolar protein 7 (6p23)
- NQO2: N-ribosyldihydronicotinamide:quinone reductase 2 (6p25.2)
- NRSN1: neurensin 1 (6p22.3)
- NUDT3: nudix hydrolase 3 (6p21.31)
- PFDN6: prefoldin subunit 6 (6p21.32)
- PHACTR1: phosphatase and actin regulator 1 (6p24.1)
- PKHD1: polycystic kidney and hepatic disease 1 (autosomal recessive) (6p21.2-p12)
- PRICKLE4: prickle planar cell polarity protein 4 (6p21.1)
- PRSS16: protease, serine 16 (6p22.1)
- PSMB8-AS1: PSMB8 antisense RNA 1 (head to head) (6p21.32)
- RIPOR2: RHO family interacting cell polarization regulator 2 (6p22.3)
- RPL10A: encoding protein 60S ribosomal protein L10a (6p21.31)
- SASH1: SAM and SH3 domain containing 1 (6q24.3-q25.1)
- SKIV2L: Ski2 like RNA helicase (6p21.33)
- SSR1: signal sequence receptor subunit 1 (6p24.3)
- TCF19: transcription factor 19 (6p21.33)
- TCP11: t-complex 11 (6p21.31)
- TJAP1: tight junction associated protein 1 (6p21.1)
- TMEM151B: encoding protein Transmembrane protein 151B
- TNXB: tenascin XB (6p21.3)
- TRAM2: translocation associated membrane protein 2 (6p12.2)
- UBR2: ubiquitin protein ligase E3 component n-recognin 2 (6p21.2)
- UNC5CL: encoding protein Unc-5 homolog C (C. elegans)-like
- VEGF: vascular endothelial growth factor A (angiogenic growth factor) (6p21.1)
- VPS52: GARP complex subunit
- ZNF76: zinc finger protein 76 (6p21.31)
- ZNF193: zinc finger protein 193 (6p22.1)
- ZNRD1: zinc ribbon domain containing 1 (6p22.1)
The following are some of the genes located on q-arm (long arm) of human chromosome 6:
- AIM1: encoding protein Absent in melanoma 1 protein (6q21)
- AIG1: encoding protein Androgen-induced protein 1 (6q24.2)
- AKIRIN2: akirin 2 (6q15)
- ARG1: arginase 1 (6q23.2)
- BCKDHB: branched-chain keto acid dehydrogenase E1, beta polypeptide (maple syrup urine disease) (6q14.1)
- C6orf58: chromosome 6 open reading frame 58 (6q22.33)
- C6orf165: encoding protein DUF3508 (6q15)
- CNR1: cannabinoid 1 receptor (6q14-q15)
- ECT2L: encoding protein Epithelial cell transforming sequence 2 oncogene-like
- ESR1: Estrogen receptor 1 (6q25)
- EYA4: eyes absent homolog 4 (Drosophila)(6q23.2)
- FBXL4: F-box and leucine rich repeat protein 4 (6q16.1-q16.2)
- HACE1: HECT domain and Ankyrin repeat containing, E3 ubiquitin protein ligase 1 (6q21)
- HEBP2: heme binding protein 2 (6q24.1)
- IFNGR: interferon-γ receptor gene (6q23-q24)
- IGF2R: insulin-like growth factor 2 receptor (6q25.3)
- IMPG1: interphotoreceptor matrix proteoglylcan 1 (6q14.1)
- LIN28B: lin-28 homolog B (6q16.3-q21)
- MAN1A1: mannosidase alpha class 1A member 1 (6q22.31)
- MB21D1: encoding protein Mab-21 domain containing 1
- MDN1: midasin AAA ATPase 1 (6q15)
- MOXD1: monooxygenase DBH like 1 (6q23.2)
- MTO1: mitochondrial tRNA translation optimization 1 (6q13)
- MTRF1L: mitochondrial translational release factor 1 like (6q25.2)
- MYO6: myosin VI (6q14.1)
- OPRM1: μ-opioid receptors (6q24-q25)
- PLG: plasminogen (6q26)
- PARK2: Parkinson disease (autosomal recessive, juvenile) 2, parkin (6q26)
- PCMT1: protein-L-isoaspartate (D-aspartate) O-methyltransferase (6q25.1)
- PERP: p53 apoptosis effector related to PMP-22 (6q23.3)
- PKIB: cAMP-dependent protein kinase inhibitor beta (6p22.31)
- SENP6: SUMO1/sentrin specific peptidase 6 (6q14.1)
- SERAC1: serine active site containing 1 (6q25.3)
- SERINC1: serine incorporator 1 (6q22.31)
- SF3B5: splicing factor 3b subunit 5 (6q24.2)
- SMAP1: small ArfGAP 1 (6q13)
- SOBP: sine oculis binding protein homolog (6q21)
- SYNJ2: synaptojanin 2 (6q25.3)
- T: T brachyury transcription factor (more commonly known as the T gene) linked to Hepatocellular carcinoma and Chordoma (6q27)
- TAAR1: trace amine associated receptor 1 (6q23.1)
- TAAR2: trace amine associated receptor 2 (6q24)
- TMEM200A: encoding protein Transmembrane protein 200A
- TSPYL1: TSPY like 1 (6q22.1)
- UNC93A: encoding protein Unc-93 homolog A (C. elegans)
- VNN1: vanin 1 (6q23.2)
- VNN2: vanin 2 (6q23.2)
- VTA1: Vesicle trafficking 1 (6q24.1-2)
- ZC2HC1: encoding protein Zinc finger C2HC-type containing 1B
- ZDHHC14: encoding protein Zinc finger, DHHC-type containing 14
Diseases and disorders
The following diseases are some of those related to genes on chromosome 6:
- ankylosing spondylitis, HLA-B
- collagenopathy, types II and XI
- Coeliac disease HLA-DQA1 & DQB1
- Ehlers-Danlos syndrome, classical, hypermobility, and Tenascin-X types
- Hashimoto's thyroiditis
- Hemochromatosis type 1
- 21-hydroxylase deficiency
- maple syrup urine disease
- methylmalonic acidemia
- Autosomal nonsyndromic deafness
- otospondylomegaepiphyseal dysplasia
- Parkinson disease
- polycystic kidney disease
- porphyria cutanea tarda
- Rheumatoid arthritis, HLA-DR
- Stickler syndrome, COL11A2
- Systemic lupus erythematosus
- Diabetes mellitus type 1, HLA-DR, DQA1 & DQB1
- X-linked sideroblastic anemia
- Guillain Barre Syndrome
- Hepatocellular carcinoma
The Chromosome 6 Research Project is a parent-driven research project for phenotype-genotype studies on chromosome 6 disorders.
Chromosomal anomalies, such as chromosome 6 deletions (too little chromosomal material) or duplications (too much chromosomal material), are a cause of significant congenital birth defects and developmental delays in children. There are many different chromosome 6 aberrations possible, each with different symptoms, and all of them are extremely rare. Because of the broad variety of chromosome 6 alterations, there is little information available for each specific aberration, leading to uncertainty for parents and doctors and sub-optimal treatment for children with these aberrations.
The Chromosome 6 Research Project compares the exact alterations in chromosome 6 (the genotype) with the effect they have on the appearance and other clinical features of affected individuals (the phenotype). Data about chromosome 6 deletions and duplications from patients from all over the world are being collected.
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- "p": Short arm; "q": Long arm.
- For cytogenetic banding nomenclature, see article locus.
- 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.
- 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.
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