Chromosome 2 is one of the twenty-three pairs of chromosomes in humans.
People normally have two copies of this chromosome.
Chromosome 2 is the second-largest human chromosome, spanning more than 242 million base pairs.
Chromosome 2 represents almost eight percent of the total DNA in human cells.
Chromosome 2 contains the HOXD homeobox gene cluster.
Human chromosome 2 is a result of an end-to-end fusion of two ancestral chromosomes: The chimpanzee, gorilla, and orangutan have nearly identical DNA sequences to human chromosome 2, but they are found in two separate chromosomes.
Normally a chromosome has just one centromere, but in chromosome 2 there are remnants of a second centromere in the q21.3–q22.1 region.
Vestigial telomeres: normally found only at the ends of a chromosome, but in chromosome 2 there are additional telomere sequences in the q13 band, far from either end of the chromosome.
Partial list of genes on human chromosome 2.
ACTR2: encoding protein Actin-related protein 2
ADI1: encoding enzyme 1,2-dihydroxy-3-keto-5-methylthiopentene dioxygenase
AFF3: encoding protein AF4/FMR2 family member 3
AFTPH: encoding protein Aftiphilin
ALMS1: Alstrom syndrome 1
ABCG5 and ABCG8: ATP-binding cassette, subfamily A, members 5 and 8
ASXL2: Additional sex combs like 2, transcriptional regulator
ATOH8: encoding protein Atonal bHLH transcription factor 8
ATRAID: encoding protein Apoptosis-related protein 3
BCYRN1: BC200 lncRNA
C2orf16: unknown protein C2orf16
CAPG: capping acting protein
CCDC104: Coiled-coil domain containing 104
CCDC142: Coiled-coil domain containing 142
CCDC142: Coiled-Coil Domain Containing 142
CGREF1: encoding protein Cell growth regulator with EF-hand domain 1
CLEC4F: encoding protein C-type lectin domain family 4 member F
CTLA4: cytotoxic T-Lymphocyte Antigen 4
CYTOR: Cytoskeleton regulator RNA
DHX57: DExH-box helicase 57
DPYSL5: Dihydropyrimidinase like 5
ERLEC1: Endoplasmic reticulum lectin 1
EVA1A: encoding protein Eva-1 homolog A (C. elegans)
EXOC6B: encoding protein Exocyst complex component 6b
FAM49A: Family with sequence similarity 49 member A
FAM98A: Family with sequence similarity 98 member A
FAM136A: Family with sequence similarity 136 member A
FBXO11: F-box protein 11
FTH1P3: encoding protein Ferritin heavy chain 1 pseudogene 3
GEN1 encoding protein GEN1, Holliday junction 5′ flap endonuclease
GCKR: Glucokinase regulator
GFPT1: glutamine—fructose-6-phosphate transaminase 1
GKN1: gastrokine 1
GPATCH11: G-patch domain containing protein 11
GTF2A1L: General transcription factor IIA subunit 1 like
HADHA: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), alpha subunit
HADHB: hydroxyacyl-Coenzyme A dehydrogenase/3-ketoacyl-Coenzyme A thiolase/enoyl-Coenzyme A hydratase (trifunctional protein), beta subunit
HSPC159: Galectin-related protein
ID2-AS1: encoding protein Id2 antisense rna 1 (head to head)
LCLAT1: encoding protein Lysocardiolipin acyltransferase 1
LEPQTL1: Leptin, serum levels of
MBOAT2: encoding protein Membrane bound o-acyltransferase domain containing 2
MEMO1: Mediator of cell motility 1
MPHOSPH10: M-phase phosphoprotein 10
MSH2: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
MSH6: mutS homolog 6 (E. coli)
MTHFD2: Bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase, mitochondrial
MTIF2: mitochondrial translational initiation factor 2
NDUFAF7: Protein arginine methyltransferase NDUFAF7, mitochondrial
NRBP1: Nuclear receptor-binding protein 1
ODC1: Ornithine decarboxylase
OTOF: otoferlin
PAIP2B: Poly(a) binding protein interacting protein 2b
PARK3 encoding protein Parkinson disease 3 (autosomal dominant, Lewy body)
PCBP1-AS1: encoding protein PCBP1 antisense RNA 1
PCYOX1: prenylcysteine oxidase 1
PELI1: Ubiquitin ligase
PLGLB2: Plasminogen-related protein B
POLR1A: DNA-directed RNA polymerase I subunit RPA1
PREPL: Prolyl endopeptidase-like
PXDN: Peroxidasin homolog
QPCT: Glutaminyl-peptide cyclotransferase
RETSAT: All-trans-retinol 13,14-reductase
RNF103: encoding protein Ring finger protein 103
RNF103-CHMP3: encoding protein RNF103-CHMP3 readthrough
SH3YL1: SH3 and SYLF domain-containing 1
SLC35F6: encoding protein Transmembrane protein SLC35F6
TGOLN2: Trans-Golgi network integral membrane protein 2
THADA: encoding protein Thyroid adenoma associated
TIA1: TIA1 cytotoxic granule-associated RNA binding protein
TMEM150: Transmembrane protein 150A
TP53I3: Putative quinone oxidoreducatse
TPO: thyroid peroxidase
TTC7A: familial multiple intestinal atresia
WBP1: WW domain-binding protein 1
WDCP: WD Repeat and Coiled Coil Containing Protein
WDPCP: encoding protein Wd repeat containing planar cell polarity effector
q-arm
Partial list of the genes located on q-arm (long arm) of human chromosome 2:
ABCA12: ATP-binding cassette, subfamily A (ABC1), member 12
ACTR1B: encoding protein Beta-centractin
AGXT: alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)
ALS2: amyotrophic lateral sclerosis 2 (juvenile)
ALS2CR8: encoding protein Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 8 protein also known as calcium-response factor (CaRF)
ARMC9: encoding protein LisH domain-containing protein ARMC9
B3GNT7: encoding protein UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7
BCS1L: GRACILE (Finnish heritage disease) related gene
BMPR2: bone morphogenetic protein receptor, type II (serine/threonine kinase)
C2orf40: encoding protein Augurin
C2orf54: Chromosome 2 open reading frame 54
CCDC115: encoding protein Coiled-coil domain containing 115
CCDC138: Coiled-coil domain-containing protein 138
CCDC74A: Coiled-coil domain containing 74a
CCDC88A: Coiled-coil domain-containing protein 88A
CCDC93: Coiled-coil domain-containing protein 93
CDCA7: Cell division cycle associated protein 1
CHPF: Chondroitin sulfate synthase 2
CKAP2L: encoding protein Cytoskeleton associated protein 2 like
COL3A1: collagen, type III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant)
COL4A3: collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4: collagen, type IV, alpha 4
COL5A2: collagen, type V, alpha 2
DES: Desmin protein
DIS3L2: DIS3 mitotic control homolog-like 2
ECEL1: Endothelin converting enzyme like 1
EPC2: Enhancer of polycomb homolog 2
EPB41L5: encoding protein Erythrocyte membrane protein band 4.1 like 5
ERICH2: encoding protein Glutamate rich protein 2
FASTKD1: FAST kinase domain-containing protein 1
IMP4: U3 small nucleolar ribonucleoprotein
INPP1: Inositol polyphosphate 1-phosphatase
INPP4A: inositol polyphosphate-4-phosphatase type A
ITM2C: Integral membrane protein 2C
KANSL3: KAT8 regulatory NSL complex subunit 3
KIAA1211L: Uncharacterized Protein KIAA1211- Like
LANCL1: LanC like 1
LINC00607: Long intergenic non-protein coding RNA 607
LOC100287387: LOC100287387
MALL: MAL-like protein
MBD5: encoding protein Methyl-cpg binding domain protein 5
MFSD2B: encoding protein Major facilitator superfamily domain containing 2b
MGAT5: mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase
MIR375: encoding protein MicroRNA 375
MIR561: encoding protein MicroRNA 561
NABP1: Nucleic acid binding protein 1
NEURL3: encoding protein Neuralized E3 ubiquitin protein ligase 3
NCL: Nucleolin
NR4A2: nuclear receptor subfamily 4, group A, member 2
OLA1: Obg-like ATPase 1
PARD3B encoding protein Partitioning defective 3 homolog B
PAX3: paired box gene 3 (Waardenburg syndrome 1)
PAX8: paired box gene 8
PID1: Phosphotyrosine interaction domain containing 1
POLR1B: DNA-directed RNA polymerase I subunit RPA2
PRR21: Proline-rich protein 21
PRSS56: Putative serine protease 56
RBM44: Rna binding motif protein 44
RFX8: Rfx family member 8, lacking rfx dna binding domain
RIF1: replication timing regulatory factor 1
RNU4ATAC: RNA, U4atac small nuclear (U12-dependent splicing)
RPL37A: encoding protein 60S ribosomal protein L37a
SATB2: Homeobox 2
SCARNA5: Small Cajal body-specific RNA 5
SDPR: Serum deprivation-response protein
SGOL2: Shugoshin-like 2
SH3BP4: SH3 domain-binding protein 4
SLC9A4: solute carrier family 9 member A4
SLC40A1: solute carrier family 40 (iron-regulated transporter), member 1
SMPD4: Sphingomyelin phosphodiesterase 4
SP140: encoding protein SP140 nuclear body protein
SP140L: encoding protein Sp140 nuclear body protein like
SPATS2L: spermatogenesis associated, serine-rich 2-like protein
SSB: Sjogren syndrome antigen B
SSFA2: Sperm-specific antigen 2
STK11IP: encoding protein Serine/threonine kinase 11 interacting protein
TBR1: T-box, brain, 1
THAP4: THAP domain-containing protein 4
TMBIM1: Transmembrane BAX inhibitor motif-containing protein 1
TMEM182: encoding protein Transmembrane protein 182
TNRC15: PERQ amino acid-rich with GYF domain-containing protein 2
TSGA10 encoding protein Testis specific 10
TTN: titin
TUBA4B: encoding protein Tubulin alpha 4b
UBE2F: encoding protein Ubiquitin conjugating enzyme E2 F (putative)
UBXD2: UBX domain-containing protein 4
UXS1: UDP-glucuronic acid decarboxylase 1
VIL1: encoding protein Villin 1
XIRP2: Xin actin-binding repeat-containing protein 2
ZEB2-AS1: encoding protein ZEB2-AS1
ZNF142: zinc finger protein 142
ZNF2: encoding protein Zinc finger protein 2
Related disorders and traits
The following diseases and traits are related to genes located on chromosome 2:
2p15-16.1 microdeletion syndrome
Autism
Alport syndrome
Alström syndrome
Amyotrophic lateral sclerosis
Brachydactyly type D
Cleft chin
Congenital hypothyroidism
Crigler-Najjar types I/II
Dementia with Lewy bodies
Ehlers–Danlos syndrome
Ehlers–Danlos syndrome, classical type
Ehlers–Danlos syndrome, vascular type
Fibrodysplasia ossificans progressiva
Gilbert’s syndrome
Harlequin type ichthyosis
Hemochromatosis
Hemochromatosis type
Hereditary nonpolyposis colorectal cancer
Infantile-onset ascending hereditary spastic paralysis
Juvenile primary lateral sclerosis
Lactose intolerance
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
Lowry-Wood syndrome
Maturity onset diabetes of the young type
Mitochondrial trifunctional protein deficiency
Nonsyndromic deafness
Photic sneeze reflex
Primary hyperoxaluria
Primary pulmonary hypertension
Sitosterolemia (knockout of either ABCG5 or ABCG8)
Sensenbrenner syndrome
Synesthesia
Waardenburg syndrome
Cytogenetic band