Chromosome 2

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


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


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 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


Waardenburg syndrome

Cytogenetic band

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