Chromosome 4
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) and represents between 6 and 6.5 percent of the total DNA in cells.

# Genomics
The chromosome is ~191 megabases in length. In a 2012 paper, seven hundred and fifty seven protein-encoding genes were identified on this chromosome. Two-hundred and eleven  (27.9%) of these coding sequences did not have any experimental evidence at the protein level, in 2012. Two-hundred and seventy-one appear to be membrane proteins. Fifty-four have been classified as cancer-associated proteins.

# Genes

## Number of genes
The following are some of the gene count estimates of human chromosome 4. 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.

## Gene list
The following is a partial list of genes on human chromosome 4. For complete list, see the link in the infobox on the right.
- AASDH: aminoadipate-semialdehyde dehydrogenase
- ACVR1: activin-like kinase 2 (ALK-2)
- ACOX3: encoding enzyme Peroxisomal acyl-coenzyme A oxidase 3
- 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
- C4orf18: encoding protein Protein ENED
- C4orf21: zinc-finger GRF-type containing 1
- CCDC109B: Coiled-coil domain containing 109B
- Complement Factor I: Complement Factor I
- 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
- DUX4: Thought to be inactive but 2010 research shows a key role in FSHD
- 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
- FAM47E-STBD1: FAM47E-STBD1 readthrough
- FAM114A1: Family with sequence similarity 114, member A1
- FAM149A: Family with sequence similarity 149, member A
- FAM193A: Family with sequence similarity 193, member A
- FAM221B: Family with sequence similarity 221, member B
- 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
- GUF1: GUF1 homolog, GTPase
- 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
- 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
- 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
- MLF1IP: Centromere protein U
- MMAA: methylmalonic aciduria (cobalamin deficiency) cblA type
- MTHFD2L: NAD-dependent methylenetetrahydrofolate dehydrogenase 2-like protein
- MYL5: Myosin light chain 5
- NOA1: encoding protein Nitric oxide associated 1
- 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)
- PLK4: Serine/threonine-protein kinase PLK4
- PSAPL1: encoding protein Prosaposin-like 1 (gene/pseudogene)
- QDPR: quinoid dihydropteridine reductase
- RBM47: RNA binding motif protein 47
- 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
- TMPRSS11D: Transmembrane protease, serine 11D
- TNIP2: TNFAIP3-interaction protein 2
- UCHL1: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
- UGT8: UDP glycosyltransferase 8
- UNC5C: netrin receptor UNC5C
- USP38: encoding protein Ubiquitin specific peptidase 38
- USP53: ubiquitin specific peptidase 53
- UTP3: small subunit processome component
- WFS1: Wolfram syndrome 1 (wolframin)
- ZNF621: encoding protein Zinc finger protein 621

# Diseases and 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
- 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
- Methylmalonic acidemia
- Mucopolysaccharidosis type I
- Muenke syndrome
- Nonsyndromic deafness
- Nonsyndromic deafness, autosomal dominant
- Parkinson's disease
- Polycystic kidney disease
- Romano-Ward syndrome
- SADDAN
- Tetrahydrobiopterin deficiency
- Thanatophoric dysplasia
Type 1
Type 2
- Type 1
- Type 2
- Wolfram syndrome
- WolfHirschhorn syndrome

# Cytogenetic band