Chromosome 4 (human)
Encyclopedia
Chromosome
A chromosome is an organized structure of DNA and protein found in cells. It is a single piece of coiled DNA containing many genes, regulatory elements and other nucleotide sequences. Chromosomes also contain DNA-bound proteins, which serve to package the DNA and control its functions.Chromosomes...
s in human
Human
Humans are the only living species in the Homo genus...
s. People normally have two copies of this chromosome. Chromosome 4 spans more than 186 million base pair
Base pair
In molecular biology and genetics, the linking between two nitrogenous bases on opposite complementary DNA or certain types of RNA strands that are connected via hydrogen bonds is called a base pair...
s (the building material of DNA
DNA
Deoxyribonucleic acid is a nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms . The DNA segments that carry this genetic information are called genes, but other DNA sequences have structural purposes, or are involved in...
) and represents between 6 and 6.5 percent of the total DNA in cells
Cell (biology)
The cell is the basic structural and functional unit of all known living organisms. It is the smallest unit of life that is classified as a living thing, and is often called the building block of life. The Alberts text discusses how the "cellular building blocks" move to shape developing embryos....
.
Identifying gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
s on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 4 likely contains between 700 and 1,100 genes.
Genes
The following are some of the genes located on chromosome 4:- ANK2ANK2Ankyrin 2, neuronal, also known as ANK2, is a protein which in humans is encoded by the ANK2 gene.-Function:The protein encoded by this gene is required for targeting and stability of Na+/Ca++ exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4...
: ankyrin 2, neuronal - CRMP1CRMP1Collapsin response mediator protein 1, encoded by the CRMP1 gene, is a human protein of the CRMP family.This gene encodes a member of a family of cytosolic phosphoproteins expressed exclusively in the nervous system...
: Collapsin response mediator protein 1, a member of CRMP familyCollapsin response mediator protein familyCollapsin response mediator protein family or CRMP family consists of five intracellular phosphoproteins of similar molecular size and high amino acid sequence identity. CRMPs are predominantly expressed in the nervous system during development and are parts to the mechanism underlying the... - CXCL1CXCL1Chemokine ligand 1 is a small cytokine belonging to the CXC chemokine family that was previously called GRO1 oncogene, GROα, KC, Neutrophil-activating protein 3 and melanoma growth stimulating activity, alpha...
: chemokine (C-X-C motif) ligand 1, scyb1 - CXCL2CXCL2Chemokine ligand 2 is a small cytokine belonging to the CXC chemokine family that is also called macrophage inflammatory protein 2-alpha , Growth-regulated protein beta and Gro oncogene-2 . CXCL2 is 90% identical in amino acid sequence as a related chemokine, CXCL1...
: chemokine (C-X-C motif) ligand 2, scyb2 - CXCL3CXCL3Chemokine ligand 3 is a small cytokine belonging to the CXC chemokine family that is also known as GRO3 oncogene , GRO protein gamma and macrophage inflammatory protein-2-beta...
: chemokine (C-X-C motif) ligand 3, scyb3 - CXCL4Platelet factor 4Platelet factor 4 is a small cytokine belonging to the CXC chemokine family that is also known as chemokine ligand 4 . This chemokine is released from alpha-granules of activated platelets during platelet aggregation, and promotes blood coagulation by moderating the effects of heparin-like...
: chemokine (C-X-C motif) ligand 4, Platelet factor-4, PF-4, scyb4 - CXCL5CXCL5C-X-C motif chemokine 5 is a protein that in humans is encoded by the CXCL5 gene.- Function :The protein encoded by this gene, CXCL5 is a small cytokine belonging to the CXC chemokine family that is also known as epithelial-derived neutrophil-activating peptide 78...
: chemokine (C-X-C motif) ligand 5, scyb5 - CXCL6CXCL6Chemokine ligand 6 is a small cytokine belonging to the CXC chemokine family that is also known as granulocyte chemotactic protein 2 . As its former name suggests, CXCL6 is a chemoattractant for neutrophilic granulocytes. It elicits its chemotactic effects by interacting with the chemokine...
: chemokine (C-X-C motif) ligand 6, scyb6 - CXCL7CXCL7Chemokine ligand 7 is a human gene.The encoded protein, Chemokine ligand is a small cytokine belonging to the CXC chemokine family. It is an isoform of Beta-Thromboglobulin or Pro-Platelet basic protein ....
: chemokine (C-X-C motif) ligand 7, PPBP, scyb7 - CXCL8Interleukin 8Interleukin-8 is a chemokine produced by macrophages and other cell types such as epithelial cells. It is also synthesized by endothelial cells, which store IL-8 in their storage vesicles, the Weibel-Palade bodies...
: chemokine (C-X-C motif) ligand 8, interleukin 8 (IL-8), scyb8 - CXCL9CXCL9Chemokine ligand 9 is a small cytokine belonging to the CXC chemokine family that is also known as Monokine induced by gamma interferon . CXCL9 is a T-cell chemoattractant, which is induced by IFN-γ. It is closely related to two other CXC chemokines called CXCL10 and CXCL11, whose genes are...
: chemokine (C-X-C motif) ligand 9, scyb9 - CXCL10CXCL10C-X-C motif chemokine 10 also known as Interferon gamma-induced protein 10 or small-inducible cytokine B10 is an 8.7 kDa protein that in humans is encoded by the CXCL10 gene...
: chemokine (C-X-C motif) ligand 10, scyb10 - CXCL11CXCL11Chemokine ligand 11 is a small cytokine belonging to the CXC chemokine family that is also called Interferon-inducible T-cell alpha chemoattractant and Interferon-gamma-inducible protein 9...
: chemokine (C-X-C motif) ligand 11, scyb11 - CXCL13CXCL13C-X-C motif chemokine 13 also known as B lymphocyte chemoattractant is a protein that in humans is encoded by the CXCL13 gene.- Function :CXCL13 is a small cytokine belonging to the CXC chemokine family...
: chemokine (C-X-C motif) ligand 13, scyb13 - DUX4DUX4Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the DUX4 gene.-Gene:This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10...
: Thought to be inactive but 2010 research shows a key role in FSHD - EVCEVC (gene)EVC is a gene associated with Ellis-van Creveld syndrome. It overlaps with the CRMP1 gene....
: Ellis van Creveld syndrome - EVC2EVC2EVC2 is a gene associated with Ellis-van Creveld syndrome....
: Ellis van Creveld syndrome 2 (limbin) - FGFR3FGFR3Fibroblast growth factor receptor 3 is a protein that in humans is encoded by the FGFR3 gene. FGFR3 has also been designated as CD333 .-Structure and function:-Disease linkage:...
: fibroblast growth factor receptor 3 (achondroplasiaAchondroplasiaAchondroplasia dwarfism occurs as a sporadic mutation in approximately 85% of cases or may be inherited in an autosomal dominant genetic disorder that is a common cause of dwarfism...
, thanatophoric dwarfism, bladder cancerBladder cancerBladder cancer is any of several types of malignant growths of the urinary bladder. It is a disease in which abnormal cells multiply without control in the bladder. The bladder is a hollow, muscular organ that stores urine; it is located in the pelvis...
) - FGFRL1FGFRL1Fibroblast growth factor receptor-like 1 is a protein that in humans is encoded by the FGFRL1 gene.-Further reading:...
: fibroblast growth factor receptor-like 1 - Complement Factor IComplement factor IComplement factor I, also known as C3B/C4B inactivator, is a protein that in humans is encoded by the CFI gene.Complement Factor I is a protein of the complement system, first isolated in 1966 in guinea pig serum that regulates complement activation by cleaving cell-bound or fluid phase C3b and...
: Complement Factor I - HTTHuntingtinThe Huntingtin gene, also called HTT or HD gene, is the IT15 gene which codes for a protein called the huntingtin protein...
(Huntingtin): huntingtinHuntingtinThe Huntingtin gene, also called HTT or HD gene, is the IT15 gene which codes for a protein called the huntingtin protein...
protein (Huntington's diseaseHuntington's diseaseHuntington's disease, chorea, or disorder , is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and dementia. It typically becomes noticeable in middle age. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea...
) - MMAAMMAAMethylmalonic aciduria type A protein, mitochondrial also known as MMAA is a protein that in humans is encoded by the MMAA gene.-Function:...
: methylmalonic aciduria (cobalamin deficiency) cblA type - PHOX2BPHOX2BPaired-like homeobox 2b , also known as neuroblastoma Phox , is a protein that in humans is encoded by the PHOX2B gene located on chromosome 4....
: codes for a homeodomain transcription factor - PKD2: polycystic kidney disease 2Polycystic kidney disease 2Polycystin-2 is a protein that in humans is encoded by the PKD2 gene.-Interactions:Polycystic kidney disease 2 has been shown to interact with TRPC1, PKD1 and TNNI3.-External links:* -Further reading:...
(autosomal dominant) - PLK4PLK4Serine/threonine-protein kinase PLK4 is an enzyme that in humans is encoded by the PLK4 gene.-Further reading:...
- QDPRQDPRQDPR is a human gene that produces the enzyme quinoid dihydropteridine reductase. This enzyme is part of the pathway that recycles a substance called tetrahydrobiopterin, also known as BH4. Tetrahydrobiopterin works with an enzyme called phenylalanine hydroxylase to process a substance called...
: quinoid dihydropteridine reductase - SNCASNCASNCA may refer to:* Seoul National Capital Area, region in South Korea* Sistema Nacional de Creadores de Arte, Mexican culture organization* Alpha-synuclein, protein found in neural tissue...
: synucleinSynucleinSynucleins are a family of soluble proteins common to vertebrates, primarily expressed in neural tissue and in certain tumors.- Family members :The synuclein family includes three known proteins: alpha-synuclein, beta-synuclein, and gamma-synuclein...
, alphaAlphaAlpha is the first letter of the Greek alphabet. Alpha or ALPHA may also refer to:-Science:*Alpha , the highest ranking individuals in a community of social animals...
(non A4 component of amyloid precursor) - UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
- WFS1WFS1Wolframin is a protein that in humans is encoded by the WFS1 gene.-Function:Wolframin is a transmembrane protein. Wolframin appears to function as a cation-selective ion channel.-Clinical significance:...
: Wolfram syndrome 1 (wolframin) - FGF2: Fibroblast growth factor 2 (basic fibroblast growth factorBasic fibroblast growth factorBasic fibroblast growth factor, also known as bFGF, FGF2 or FGF-β, is a member of the fibroblast growth factor family.- Function :...
) - KDR: Kinase insert domain receptor (Vascular endothelial growth factorVascular endothelial growth factorVascular endothelial growth factor is a signal protein produced by cells that stimulates vasculogenesis and angiogenesis. It is part of the system that restores the oxygen supply to tissues when blood circulation is inadequate....
receptor 2) - IGJ: linker protein for immunoglobulin alpha and mu polypeptides
- HCL2 (also called RHA or RHC): related to red hair
Diseases & disorders
The following are some of the diseases related to genes located on chromosome 4:- achondroplasiaAchondroplasiaAchondroplasia dwarfism occurs as a sporadic mutation in approximately 85% of cases or may be inherited in an autosomal dominant genetic disorder that is a common cause of dwarfism...
- bladder cancerBladder cancerBladder cancer is any of several types of malignant growths of the urinary bladder. It is a disease in which abnormal cells multiply without control in the bladder. The bladder is a hollow, muscular organ that stores urine; it is located in the pelvis...
- Crouzonodermoskeletal syndromeCrouzonodermoskeletal syndromeCrouzonodermoskeletal syndrome is a disorder characterized by the premature joining of certain bones of the skull during development and a skin condition called acanthosis nigricans....
- Chronic Lymphocytic LeukemiaChronic lymphocytic leukemiaB-cell chronic lymphocytic leukemia , also known as chronic lymphoid leukemia , is the most common type of leukemia. Leukemias are cancers of the white blood cells . CLL affects B cell lymphocytes. B cells originate in the bone marrow, develop in the lymph nodes, and normally fight infection by...
- Ellis-van Creveld syndromeEllis-van Creveld syndromeEllis–van Creveld Syndrome is a rare genetic disorder of the skeletal dysplasia type.-Symptoms:...
- Facioscapulohumeral muscular dystrophyFacioscapulohumeral muscular dystrophyFacioscapulohumeral muscular dystrophy , which is also known as Landouzy-Dejerine, is a usually autosomal dominant inherited form of muscular dystrophy that initially affects the skeletal muscles of the face , scapula and upper arms...
- Fibrodysplasia ossificans progessiva FOP
- Hemophilia C
- Huntington's diseaseHuntington's diseaseHuntington's disease, chorea, or disorder , is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and dementia. It typically becomes noticeable in middle age. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea...
- Hemolytic Uremic Syndrome
- Hirschprung's disease
- hypochondroplasiaHypochondroplasiaHypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene that results in a disproportionately short stature, micromelia, and a head that appears large when compared with the underdeveloped portions of the body...
- methylmalonic acidemiaMethylmalonic acidemiaMethylmalonic acidemia , also called methylmalonic aciduria, is an autosomal recessive metabolic disorder. It is a classical type of organic acidemia....
- Muenke syndromeMuenke syndromeMuenke Syndrome, also known as FGFR3-related craniosynostosis, is a human specific condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. Muenke syndrome occurs in about 1 in 30,000 newborns...
- nonsyndromic deafnessNonsyndromic deafnessNonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body....
- nonsyndromic deafness, autosomal dominant
- Ondine's CurseOndine's curseOndine's Curse, also called congenital central hypoventilation syndrome or primary alveolar hypoventilation, is a respiratory disorder that is fatal if untreated...
- Parkinsons disease
- polycystic kidney diseasePolycystic kidney diseaseAutosomal dominant polycystic kidney disease is an inherited systemic disorder that predominantly affects the kidneys, but may affect other organs including the liver, pancreas, brain, and arterial blood vessels...
- Romano-Ward syndromeRomano-Ward syndromeRomano-Ward syndrome, is the major variant of long QT syndrome. It is a condition that causes a disruption of the heart's normal rhythm. This disorder is a form of long QT syndrome, which is a heart condition that causes the cardiac muscle to take longer than usual to recharge between beats...
- SADDANSADDANSADDAN is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities....
- tetrahydrobiopterin deficiencyTetrahydrobiopterin deficiencyTetrahydrobiopterin deficiency , also called THB or BH4 deficiency, is a rare metabolic disorder that increases the blood levels of phenylalanine. Phenylalanine is an amino acid obtained through the diet. It is found in all proteins and in some artificial sweeteners...
- thanatophoric dysplasiaThanatophoric dysplasiaThanatophoric dysplasia is a severe skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs.-Symptoms:Infants with this condition have disproportionately short arms and legs with extra folds of skin...
- thanatophoric dysplasia, type 1
- thanatophoric dysplasia, type 2
- Wolfram syndromeWolfram syndromeWolfram syndrome, also called DIDMOAD , is a rare genetic disorder, causing diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders.It was first described in four siblings in 1938 by Dr. Don J...