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 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:


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


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