Chromosome 3

Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 3 spans 201 million base pairs (the building material of DNA) and represents about 6.5 percent of the total DNA in cells.

Number of genes
The following are some of the gene count estimates of human chromosome 3. 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.

List of genes
The following is a partial list of genes on human chromosome 3. For complete list, see the link in the infobox on the right.

p-arm
Partial list of the genes located on p-arm (short arm) of human chromosome 3: • ALAS1: aminolevulinate, delta-, synthase 1

• APEH: encoding enzyme Acylamino-acid-releasing enzyme

• ARPP-21: Cyclic AMP-regulated phosphoprotein, 21 kDa

• AZI2: encoding protein 5-azacytidine-induced protein 2

• BRK1: SCAR/WAVE actin nucleating complex subunit

• BRPF1: bromodomain and PHD finger containing 1

• BTD: biotinidase

• C3orf14-Chromosome 3 open reading frame 14: predicted DNA binding protein.

• CFAP20DC: encoding protein Chromosome 3 open reading frame 67

• C3orf62: chromosome 3 open reading frame 62

• CACNA2D3: calcium channel, voltage-dependent, alpha 2/delta subunit 3

• CCR5: chemokine (C-C motif) receptor 5

• CGGBP1: CGG triplet repeat binding protein 1

• CMTM7: CKLF like MARVEL transmembrane domain containing 7

• CNTN4: Contactin 4

• COL7A1: Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive)

• CRBN: Cereblon protein

• DCLK3: Doublecortin like kinase 3

• DLEC1: encoding protein Deleted in lung and esophageal cancer 1

• EAF1: ELL associated factor 1

• ENTPD3: ectonucleoside triphosphate diphosphohydrolase 3

• FAM107A: Family with sequence similarity 107 member A

• FAM19A1: Family with sequence similarity 19 member A1, C-C motif chemokine like

• FBXL2: F-box and leucine rich repeat protein 2

• FOXP1: Forkhead Box Protein P1

• FRA3A encoding protein Fragile site, aphidicolin type, common, fra(3)(p24.2)

• FRMD4B encoding protein FERM domain containing 4B

• GHRLOS: non-coding RNA ghrelin opposite strand (non-protein coding)

• GMPPB: GDP-mannose pyrophosphorylase B

• HACL1: encoding protein 2-hydroxyacyl-CoA lyase 1

• HEMK1: encoding protein HemK methyltransferase family member 1

• HIGD1A: HIG1 domain family member 1A

• HTD2: encoding protein Hydroxyacyl-thioester dehydratase type 2

• LARS2: leucyl-tRNA synthetase, mitochondrial

• LIMD1: LIM domain-containing protein 1

• LOC105377021: encoding protein LOC105377021

• LINC00312: Long intergenic non-protein-coding RNA 312

• LZTFL1: Leucine zipper transcription factor like 1

• MIR138-1: encoding protein MicroRNA 138-1

• MIR885: encoding protein MicroRNA 885

• MITF: microphthalmia-associated transcription factor

• MLH1: mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)

• MYRIP: Myosin VIIA and Rab interacting protein

• NBEAL2: Neurobeachin-like 2

• NDUFAF3: encoding enzyme NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 3

• NKTR: NK-tumor recognition protein

• NPRL2: Nitrogen permease regulator 2-like protein

• OXTR: oxytocin receptor

• PCAF: acetyltransferase activity

• PHF7 encoding protein PHD finger protein 7

• PRICKLE2: encoding protein Prickle planar cell polarity protein 2

• PTHR1: parathyroid hormone receptor 1

• QRICH1: encoding protein QRICH1, also known as Glutamine-rich protein 1,

• RBM6: RNA-binding protein 6

• RPP14: Ribonuclease P protein subunit p14

• SCN5A: sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)

• SETD5: SET domain containing 5

• SFMBT1: Scm-like with four mbt domains 1

• SLC25A20: solute carrier family 25 (carnitine/acylcarnitine translocase), member 20

• STT3B: catalytic subunit of the oligosaccharyltransferase complex

• SYNPR: synaptoporin

• TAFA4: encoding protein Family with sequence similarity 19 member A4, C-C motif chemokine like

• TCAIM: encoding protein T-cell activation inhibitor, mitochondrial

• TDGF1: Teratocarcinoma-derived growth factor 1

• TMEM158: Transmembrane protein 158

• TMIE: transmembrane inner ear

• TRAK1: trafficking kinesin-binding protein 1

• TRANK1: encoding protein Tetratricopeptide repeat and ankyrin repeat containing 1

• TTLL3: encoding protein Tubulin tyrosine ligase-like family, member 3

• TUSC2: tumor suppressor candidate 2

• UCN2: Urocortin-2

• ULK4: UNC-51 like kinase 4

• VGLL3: vestigial-like family member 3

• VHL: von Hippel-Lindau tumor suppressor

• ZMYND10: zinc finger MYND-type containing 10

• ZNF197: encoding protein Zinc finger protein 197

• ZNF502: encoding protein Zinc finger protein 502

• ZNF620: encoding protein Zinc finger protein 620

• ZNF621: encoding protein Zinc finger protein 621

• ZNF717: encoding protein Zinc finger protein 717

q-arm
Partial list of the genes located on q-arm (long arm) of human chromosome 3: • ADIPOQ: adiponectin

• AMOTL2: encoding protein Angiomotin-like protein 2

• ARHGAP31: Rho GRPase activating protein 31

• BCHE: butyrylcholinesterase

• C3orf70 chromosome 3 open reading frame 70

• CAMPD1: Camptodactyly

• CCDC80: Coiled-coil domain containing protein 80

• CD200R1: Cell surface glycoprotein CD200 receptor 1

• CHST13: encoding protein Carbohydrate (chondroitin 4) sulfotransferase 13

• CLDND1: Claudin domain containing 1

• CPN2: Carboxypeptidase N subunit 2

• CPOX: coproporphyrinogen oxidase (coproporphyria, harderoporphyria)

• DPPA2: Developmental pluripotency associated 2

• DTX3L: encoding protein Deltex e3 ubiquitin ligase 3l

• DZIP3: encoding protein DAZ interacting zinc finger protein 3

• EAF2: ELL associated factor 2

• EFCC1: EF-hand and coiled-coil domain containing 1

• ETM1: Essential tremor 1

• ETV5: ETS variant 5

• FAM3D: family with sequence similarity 3, member D

• FAM43A: family with sequence similarity 43 member A

• FAM162A: family with sequence similarity 162 member A

• FBXO40: encoding protein F-box protein 40

• FILIP1L: encoding protein Filamin A interacting protein 1 like

• GYG1: Glycogenin-1

• HACD2 encoding protein 3-hydroxyacyl-CoA dehydratase 2

• HGD: homogentisate 1,2-dioxygenase (homogentisate oxidase)

• IFT122: intraflagellar transport gene 122

• KIAA1257: KIAA1257

• LINC01279: encoding protein long intergenic non-protein coding RNA 1279

• LNCR5: encoding protein lung cancer susceptibility 5

• LMLN: encoding protein Leishmanolysin-like (metallopeptidase M8 family)

• LRRC15: leucine rich repeat containing 15

• LSG1: large subunit GTPase 1 homolog

• MB21D2: encoding protein Mab-21 domain containing 2

• MCCC1: methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)

• MORC1: encoding protein Morc family cw-type zinc finger 1

• MYLK: Telokin

• NEPRO: encoding protein Nucleolus and neural progenitor protein

• NFKBIZ: NF-kappa-B inhibitor zeta

• OTOL1: encoding glycoprotein Otolin

• PARP14 encoding protein Poly(ADP-ribose) polymerase family member 14

• PCCB: propionyl Coenzyme A carboxylase, beta polypeptide

• PDCD10: programmed cell death 10

• PIK3CA: phosphoinositide-3-kinase, catalytic, alpha polypeptide

• PISRT1: long non-coding RNA

• PROSER1: Proline and serine rich protein 1

• RAB7: RAB7, member RAS oncogene family

• RASA2: encoding protein Ras p21 protein activator 2

• RETNLB: resistin-like beta

• RHO: rhodopsin visual pigment

• RIOX2: Ribosomal oxygenase 2

• SELT: Selenoprotein T

• SENP7: Sentrin-specific protease 7

• SERP1: Stress-associated endoplasmic reticulum protein 1

• SOX2: transcription factor

• SOX2OT: SOX2 overlapping transcript

• SPG14 encoding protein Spastic paraplegia 14 (autosomal recessive)

• SRPRB: Signal recognition particle receptor subunit beta

• TEX55: encoding protein Testis expressed 55

• TIMMDC1: TIMMDC1

• TMEM44: encoding protein Transmembrane protein 44

• TM4SF1: Transmembrane 4 L6 family member 1

• TMPRSS7: encoding protein Transmembrane serine protease 7

• TP63: Tumor protein p63

• TRAT1: T-cell receptor-associated transmembrane adapter 1

• USH3A: Usher syndrome 3A

• ZBED2: encoding protein Zinc finger BED-type containing 2

• ZNF9: zinc finger protein 9 (a cellular retroviral nucleic acid binding protein)

Diseases and disorders
The following diseases and disorders are some of those related to genes on chromosome 3:


 * 3-Methylcrotonyl-CoA carboxylase deficiency
 * 3q29 microdeletion syndrome
 * Acute myeloid leukemia (AML)
 * Alkaptonuria
 * Arrhythmogenic right ventricular dysplasia
 * Atransferrinemia
 * Autism
 * Autosomal dominant optic atrophy
 * ADOA plus syndrome
 * Biotinidase deficiency
 * Blepharophimosis, epicanthus inversus and ptosis type 1
 * Breast/colon/lung/pancreatic cancer
 * Brugada syndrome
 * Castillo fever
 * Carnitine-acylcarnitine translocase deficiency
 * Cataracts
 * Cerebral cavernous malformation
 * Charcot–Marie–Tooth disease, type 2
 * Charcot–Marie–Tooth disease
 * Chromosome 3q duplication syndrome
 * Coproporphyria
 * A location on human chromosome 3 is associated with respiratory failure and possibly with increased severity in COVID-19
 * Dandy–Walker syndrome
 * Deafness
 * Diabetes
 * Dystrophic epidermolysis bullosa
 * Endplate acetylcholinesterase deficiency
 * Essential tremors
 * Ectrodactyly, Case 4
 * Glaucoma, primary open angle
 * Glycogen storage disease
 * Hailey–Hailey disease
 * Harderoporphyrinuria
 * Heart block, progressive/nonprogressive
 * Hereditary coproporphyria
 * Hereditary nonpolyposis colorectal cancer
 * HIV infection, susceptibility/resistance to
 * Hypobetalipoproteinemia, familial
 * Hypothermia
 * Leukoencephalopathy with vanishing white matter
 * Long QT syndrome
 * Lymphomas
 * Malignant hyperthermia susceptibility
 * Metaphyseal chondrodysplasia, Murk Jansen type
 * Microcoria
 * Möbius syndrome
 * Moyamoya disease
 * Mucopolysaccharidosis
 * Muir–Torre family cancer syndrome
 * Myotonic dystrophy
 * Neuropathy, hereditary motor and sensory, Okinawa type
 * Night blindness
 * Nonsyndromic deafness
 * Ovarian cancer
 * Porphyria
 * Propionic acidemia
 * Protein S deficiency
 * Pseudo-Zellweger syndrome
 * Retinitis pigmentosa
 * Romano–Ward syndrome
 * Seckel syndrome
 * Sensenbrenner syndrome
 * Septo-optic dysplasia
 * Short stature
 * Spinocerebellar ataxia
 * Sucrose intolerance
 * T-cell leukemia translocation altered gene
 * Usher syndrome
 * von Hippel–Lindau syndrome
 * Waardenburg syndrome
 * Xeroderma pigmentosum, complementation group c