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 193 million base pairs, the building material of DNA, and represents between 6 and 6.5 percent of the total DNA in cells.
The chromosome is ~193 megabases in length.
1000-1100 protein-encoding genes are identified on chromosome 4.
Genes on human chromosome 4.
AASDH: aminoadipate-semialdehyde dehydrogenase
ACVR1: activin-like kinase 2 (ALK-2)
ACOX3: encoding enzyme Peroxisomal acyl-coenzyme A oxidase 3
AFAP1-AS1: encoding protein AFAP1 antisense RNA 1
AGA: AGU syndrome (Finnish heritage disease) related gene
AGPAT9: encoding enzyme Glycerol-3-phosphate acyltransferase 3 a.k.a. 1-acylglycerol-3-phosphate O-acyltransferase 9
ANK2: ankyrin 2, neuronal
APBB2: encoding protein Amyloid beta A4 precursor protein-binding family B member 2
ART3: encoding enzyme Ecto-ADP-ribosyltransferase 3
ASAHL: encoding enzyme N-acylethanolamine-hydrolyzing acid amidase
BANK1: encoding protein B cell scaffold protein with ankyrin repeats 1
BEND4: encoding protein BEN domain containing 4
CCDC109B: Coiled-coil domain containing 109B
CLNK: encoding protein Cytokine dependent hematopoietic cell linker
Complement Factor I: Complement Factor I
COL25A1-DT: encoding protein Zinc finger, cchc domain containing 23
CRMP1: Collapsin response mediator protein 1, a member of CRMP family
CSN2: Beta-casein
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
CYTL1: Cytokine-like 1
DCUN1D4: Defective in cullin neddylation 1 domain containing 4
DHX15: DEAH-box helicase 15
DKK2: Dickkopf-related protein 2
DMAC1: encoding protein Transmembrane protein 261
DUX4: Thought to be inactive but 2010 research shows a key role in FSHD[12]
ELMOD2: Elmo domain-containing 2
EMCN: Endomucin
EVC: Ellis–Van Creveld syndrome
EVC2: Ellis–Van Creveld syndrome 2 (limbin)
Factor XI: Mutations cause Haemophilia C
FAM114A1: Family with sequence similarity 114, member A1
FAM149A: Family with sequence similarity 149, member A
FAM193A: Family with sequence similarity 193, member A
FAM198B: encoding protein Protein ENED
FAM221B: Family with sequence similarity 221, member B
FAM47E-STBD1: FAM47E-STBD1 readthrough
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
FRG1: FSHD region gene 1
FRYL: encoding protein FRY like transcription coactivator
FSTL5: encoding protein Follistatin like 5
GUF1: GUF1 homolog, GTPase
HDL3: encoding Huntington-like neurodegenerative disorder 2 protein
HELQ: encoding protein Helicase, POLQ-like
HTT (Huntingtin): huntingtin protein (Huntington’s disease)
IGJ: linker protein for immunoglobulin alpha and mu polypeptides
INTS12: Integrator complex subunit 12
KDR: Kinase insert domain receptor (Vascular endothelial growth factor receptor 2)
KIAA1530: UV stimulated scaffold protein A
LCORL: Ligand dependent nuclear receptor corepressor like
LDB2: LIM domain-binding protein 2
LGI2: Leucine-rich repeat LGI family member 2
LOC100505912 encoding protein Uncharacterized LOC100505912
LSM6: U6 snRNA-associated Sm-like protein
LTO1P1: encoding protein Oral cancer overexpressed 1 pseudogene 1
LYAR: Cell growth-regulating nucleolar protein
MAB21L2: Mab-21-like 2
Marcksl1: encoding protein MARCKS-like 1
MAML3: Mastermind-like 3
MFSD7: encoding protein Major facilitator superfamily domain containing 7
MIR1269A: microRNA 1269a
MIR95: non-coding RNA MicroRNA 95
MLF1IP: Centromere protein U
MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type
MTHFD2L: NAD-dependent methylenetetrahydrofolate dehydrogenase 2-like protein
MYL5: Myosin light chain 5
NAP1L5: encoding protein Nucleosome assembly protein 1 like 5
NDNF: encoding protein Neuron derived neurotrophic factor
NOA1: encoding protein Nitric oxide associated 1
NPNT: encoding protein Nephronectin
NUDT6: nudix hydrolase 6
NUDT9: nudix hydrolase 9
OTUD4: OTU domain-containing protein 4
PABPC4L: encoding protein Poly(A) binding protein, cytoplasmic 4-like
PARM1: Prostate androgen-regulated mucin-like protein 1
PHOX2B: codes for a homeodomain transcription factor
PI4K2B: Phosphatidylinositol 4-kinase type 2-beta
PKD2: polycystic kidney disease 2 (autosomal dominant)
PLAC8: encoding protein Placenta specific 8
PLK4: Serine/threonine-protein kinase PLK4
PPEF2: encoding protein Protein phosphatase with ef-hand domain 2
PSAPL1: encoding protein Prosaposin-like 1 (gene/pseudogene)
QDPR: quinoid dihydropteridine reductase
RBM47: RNA binding motif protein 47
RG9MTD2: encoding protein RNA (guanine-9-) methyltransferase domain containing 2
SCRG1: encoding protein Stimulator of chondrogenesis 1
SDAD1: protein SDA1 homolog
SEC24B: Sec24 homolog B
SEC24D: Sec24 homolog D
SEPT11: Septin-11
SLC9B2: solute carrier family 9 member B2
SLC10A4: solute carrier family 10 member 4
SMIM20: encoding protein Small integral membrane protein 20
SNCA: synuclein, alpha (non A4 component of amyloid precursor)
SPATA5: Spermatogenesis-associated protein 5
STATH: gene with protein product
TACC3: Transforming acidic coiled-coil-containing protein 3
TENM3: Teneurin transmembrane protein 3
THAP6: THAP domain-containing protein 6
TMEM155: encoding protein Transmembrane protein 155
TMEM165: encoding protein Transmembrane protein 165
TMEM175: encoding protein Transmembrane protein 175
TMEM243: encoding protein Transmembrane protein 243
TMPRSS11D: Transmembrane protease, serine 11D
TMPRSS11F: encoding protein Transmembrane serine protease 11F
TNIP2: TNFAIP3-interaction protein 2
TNIP3: encoding protein TNFAIP3 interacting protein 3
UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UGDH-AS1: encoding protein UGDH antisense RNA 1
UGT8: UDP glycosyltransferase 8
UNC5C: netrin receptor UNC5C
UPF0602: encoding UPF0602 Protein C4orf47
USP38: encoding protein Ubiquitin specific peptidase 38
USP53: ubiquitin specific peptidase 53
UTP3: small subunit processome component
WFS1: Wolfram syndrome 1 (wolframin)
ZGRF1: zinc-finger GRF-type containing 1
ZNF621: encoding protein Zinc finger protein 621
Diseases and disorders located on chromosome 4:
Achondroplasia
Autosomal dominant polycystic kidney disease (PKD-2)
Bladder cancer
Crouzonodermoskeletal syndrome
Chronic lymphocytic leukemia
Congenital central hypoventilation syndrome
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