Genes, Locations and Genetic Disorders on Chromosome 2

Last Updated: Sun Aug 6 22:00:02 EDT 2000
GeneGDB AccessionIDLocationOMIM Link
ACADL GDB:1187452q34-2q35 ACYL-CoA DEHYDROGENASE, LONG-CHAIN, DEFICIENCY OF
ACHM2 GDB:91838962q11.2-2q12 COLORBLINDNESS, TOTAL
ACP1 GDB:1189622p25-2p25 PHOSPHATASE, ACID, OF ERYTHROCYTE; ACP1
AGXT GDB:1271132q37.3-2q37.3 OXALOSIS I
AHHR GDB:1189842pter-2q31 CYTOCHROME P450, SUBFAMILY I, POLYPEPTIDE 1; CYP1A1
ALMS1 GDB:98655392p13-2p12 2p14-2p13 2p13.1-2p13.1 ALSTROM SYNDROME
ALPP GDB:1196722q37.1-2q37.1 ALKALINE PHOSPHATASE, PLACENTAL; ALPP
ALS2 GDB:1356962q33-2q35 AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE; ALS2
APOB GDB:1196862p24-2p23 2p24-2p24 APOLIPOPROTEIN B; APOB
BDE GDB:99557302q37-2q37 BRACHYDACTYLY, TYPE E; BDE
BDMR GDB:5330642q37-2q37 BRACHYDACTYLY-MENTAL RETARDATION SYNDROME; BDMR
BJS GDB:99557172q34-2q36 TORTI AND NERVE DEAFNESS
CHRNA1 GDB:1205862q24-2q32 CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; CHRNA1
COL3A1 GDB:1187292q31-2q32.3 2q32.2-2q32.2 COLLAGEN, TYPE III; COL3A1
EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
COL4A3 GDB:1283512q36-2q37 COLLAGEN, TYPE IV, ALPHA-3 CHAIN; COL4A3
COL4A4 GDB:1326732q35-2q37 COLLAGEN, TYPE IV, ALPHA-4 CHAIN; COL4A4
CPS1 GDB:1197992q33-2q36 2q34-2q35 2q35-2q35 HYPERAMMONEMIA DUE TO CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY
CRYGA GDB:1190762q33-2q35 CRYSTALLIN, GAMMA A; CRYGA
CRYGEP1 GDB:1198082q33-2q35 CRYSTALLIN, GAMMA A; CRYGA

CYP1B1 GDB:3535152p21-2p21 2p22-2p21 2pter-2qter GLAUCOMA 3, PRIMARY INFANTILE, A; GLC3A
CYTOCHROME P450, SUBFAMILY I (DIOXIN-INDUCIBLE), POLYPEPTIDE 1; CYP1B1
CYP27A1 GDB:1281292q33-2qter CEREBROTENDINOUS XANTHOMATOSIS
DBI GDB:1198372q12-2q21 DIAZEPAM BINDING INHIBITOR; DBI
DES GDB:1198412q35-2q35 DESMIN; DES
DL GDB:98373722q11-2q13 DYSPLASIA, HYPOHIDROTIC

DYSF GDB:3408312p-2p 2p13-2p13 2pter-2p12 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B; LGMD2B
MUSCULAR DYSTROPHY, LATE-ONSET DISTAL

EFEMP1 GDB:12201112p16-2p16 DOYNE HONEYCOMB DEGENERATION OF RETINA
FIBRILLIN-LIKE; FBNL
ERCC3 GDB:1198812q21-2q21 EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3
FSHR GDB:1275102p21-2p16 FOLLICLE-STIMULATING HORMONE RECEPTOR; FSHR
GONADAL DYSGENESIS, XX TYPE
GAD1 GDB:1192442q31-2q31 PYRIDOXINE DEPENDENCY WITH SEIZURES
GLC1B GDB:12975532q1-2q13 GLAUCOMA 1, OPEN ANGLE, B; GLC1B
GPD2 GDB:3545582q24.1-2q24.1 GLYCEROL-3-PHOSPHATE DEHYDROGENASE-2; GPD2
GYPC GDB:1200272q14-2q21 BLOOD GROUP--GERBICH; Ge
HADHA GDB:4340262p23-2p23 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,
HADHB GDB:3449532p23-2p23 HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE,
HGF GDB:98488752p21-2p21 GINGIVAL
HOXD13 GDB:1272252q31-2q31 HOMEO BOX-D13; HOXD13
HPE2 GDB:1360662p21-2p21 MIDLINE CLEFT SYNDROME
IGKC GDB:1200882p12-2p12 IMMUNOGLOBULIN KAPPA CONSTANT REGION; IGKC
IRS1 GDB:1339742q36-2q36 INSULIN RECEPTOR SUBSTRATE 1; IRS1
ITGA6 GDB:1280272pter-2qter INTEGRIN, ALPHA-6; ITGA6
KHK GDB:3919032p23.3-2p23.2 FRUCTOSURIA
LCT GDB:1201402q21-2q21 DISACCHARIDE INTOLERANCE II
LHCGR GDB:1252602p21-2p21 LUTEINIZING HORMONE/CHORIOGONADOTROPIN RECEPTOR; LHCGR
LSFC GDB:99562192-2 CYTOCHROME c OXIDASE DEFICIENCY, FRENCH-CANADIAN TYPE
MSH2 GDB:2039832p16-2p16 2p22-2p21 COLON CANCER, FAMILIAL, NONPOLYPOSIS TYPE 1; FCC1
MSH6 GDB:6328032p16-2p16 G/T MISMATCH-BINDING PROTEIN; GTBP
NEB GDB:1202242q24.1-2q24.2 NEBULIN; NEB
NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE; NEM2
NPHP1 GDB:1280502q13-2q13 NEPHRONOPHTHISIS, FAMILIAL JUVENILE 1; NPHP1
PAX3 GDB:1204952q36-2q36 2q35-2q35 KLEIN-WAARDENBURG SYNDROME
WAARDENBURG SYNDROME; WS1
PAX8 GDB:1364472q12-2q14 PAIRED BOX HOMEOTIC GENE 8; PAX8
PFIC2 GDB:51958602q24-2q24 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2; PFIC2
PMS1 GDB:3864032q31-2q33 POSTMEIOTIC SEGREGATION INCREASED (S. CEREVISIAE)-1; PMS1
PNKD GDB:55839732q33-2q35 CHOREOATHETOSIS, FAMILIAL PAROXYSMAL; FPD1
PPH1 GDB:13815412q31-2q32 PULMONARY HYPERTENSION, PRIMARY; PPH1
PROC GDB:1203172q13-2q21 2q13-2q14 PROTEIN C DEFICIENCY, CONGENITAL THROMBOTIC DISEASE DUE TO
REG1A GDB:1324552p12-2p12 REGENERATING ISLET-DERIVED 1-ALPHA; REG1A
SAG GDB:1203652q37.1-2q37.1 S-ANTIGEN; SAG
SFTPB GDB:1203742p12-2p11.2 SURFACTANT-ASSOCIATED PROTEIN, PULMONARY-3; SFTP3
SLC3A1 GDB:2029682p16.3-2p16.3 2p21-2p21 SOLUTE CARRIER FAMILY 3, MEMBER 1; SLC3A1
CYSTINURIA; CSNU
SPD GDB:6387882q31-2q31 SYNDACTYLY, TYPE II
SPG4 GDB:2301272p24-2p21 SPASTIC PARAPLEGIA-4, AUTOSOMAL DOMINANT; SPG4
SRD5A2 GDB:1273432p23-2p23 PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS; PPSH
TCL4 GDB:1363782q34-2q34 T-CELL LEUKEMIA/LYMPHOMA-4; TCL4
TGFA GDB:1204352p13-2p13 TRANSFORMING GROWTH FACTOR, ALPHA; TGFA
TMD GDB:98371962q31-2q31 TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TPO GDB:1204462p25-2p25 2p25-2p24 THYROID HORMONOGENESIS, GENETIC DEFECT IN, IIA
UGT1 GDB:1200072q37-2q37 UDP GLUCURONOSYLTRANSFERASE 1 FAMILY, A1; UGT1A1
UV24 GDB:99557372pter-2qter UV-DAMAGE, EXCISION REPAIR OF, UV-24
WSS GDB:99557072q32-2q32 WRINKLY SKIN SYNDROME; WSS
XDH GDB:2663862p23-2p22 XANTHINURIA
ZAP70 GDB:4337382q11-2q13 2q12-2q12 SYK-RELATED TYROSINE KINASE; SRK