Gene Map - Chromosome: 2

OMIM Gene/Loci: 215 - 224 of 1,185 on Chromosome 2 (All Entries)

Show 100 |

| pter | « Towards pter | Towards qter » | qter

Phenotype Only Entries All Entries

Location (from NCBI, GRCh38)	Gene/Locus	Gene/Locus name	Gene/Locus MIM number	Phenotype	Phenotype MIM number	Inheritance	Pheno map key	Comments	Mouse symbol (from MGI)
2:43,806,211 2p21	ABCG5, STSL2	ATP-binding cassette, subfamily G, member 5	605459	Sitosterolemia 2	618666	AR	3		Abcg5
2:43,838,971 2p21	ABCG8, GBD4, STSL1	ATP-binding cassette, subfamily G, member 8	605460	{Gallbladder disease 4}	611465		3		Abcg8
2:43,838,971 2p21	ABCG8, GBD4, STSL1	ATP-binding cassette, subfamily G, member 8	605460	Sitosterolemia 1	210250	AR	3		Abcg8
2:43,886,224 2p21	LRPPRC, LRP130, LSFC, MC4DN5	Leucine-rich PPR motif-containing protein	607544	Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)	220111	AR	3		Lrpprc
2:44,168,875 2p21	PPM1B	Protein phosphatase, magnesium-dependent, 1, beta isoform	603770					formerly PP2CB	Ppm1b
2:44,275,480 2p21	SLC3A1, ATR1, D2H, NBAT	Solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1	104614	Cystinuria	220100	AD, AR	3		Slc3a1
2:44,317,607 2p21	PREPL, KIAA0436, CMS22	Prolyl endopeptidase-like	609557	Myasthenic syndrome, congenital, 22	616224	AR	3		Prepl
2:44,361,947 2p21	CAMKMT, C2orf34	Calmodulin lysine N-methyltransferase	609559						Camkmt
2:44,941,702 2p21	SIX3, HPE2	SIX homeobox 3	603714	Holoprosencephaly 2	157170	AD	3		Six3
2:44,941,702 2p21	SIX3, HPE2	SIX homeobox 3	603714	Schizencephaly	269160		3		Six3
2:45,005,182 2p21	SIX2	SIX homeobox 2	604994						Six2
2:45,651,279 2p21	PRKCE, PKCE	Protein kinase C, epsilon	176975						Prkce

pter | « Towards pter | Towards qter » | qter

OMIM Gene/Loci: 215 - 224 of 1,185 on Chromosome 2 (All Entries)

Location (from NCBI, GRCh38)	Gene/Locus	Gene/Locus name	Gene/Locus MIM number	Phenotype	Phenotype MIM number	Inheritance	Pheno map key	Comments	Mouse symbol (from MGI)
2:43,806,211-43,839,231 2p21	ABCG5, STSL2	ATP-binding cassette, subfamily G, member 5	605459	Sitosterolemia 2	618666	Autosomal recessive	3		Abcg5
2:43,838,971-43,882,988 2p21	ABCG8, GBD4, STSL1	ATP-binding cassette, subfamily G, member 8	605460	{Gallbladder disease 4}	611465		3		Abcg8
2:43,838,971-43,882,988 2p21	ABCG8, GBD4, STSL1	ATP-binding cassette, subfamily G, member 8	605460	Sitosterolemia 1	210250	Autosomal recessive	3		Abcg8
2:43,886,224-43,996,265 2p21	LRPPRC, LRP130, LSFC, MC4DN5	Leucine-rich PPR motif-containing protein	607544	Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)	220111	Autosomal recessive	3		Lrpprc
2:44,168,875-44,246,928 2p21	PPM1B	Protein phosphatase, magnesium-dependent, 1, beta isoform	603770					formerly PP2CB	Ppm1b
2:44,275,480-44,322,437 2p21	SLC3A1, ATR1, D2H, NBAT	Solute carrier family 3 (cystine, dibasic and neutral amino acid transporters), member 1	104614	Cystinuria	220100	Autosomal dominant; Autosomal recessive	3		Slc3a1
2:44,317,607-44,361,862 2p21	PREPL, KIAA0436, CMS22	Prolyl endopeptidase-like	609557	Myasthenic syndrome, congenital, 22	616224	Autosomal recessive	3		Prepl
2:44,361,947-44,772,592 2p21	CAMKMT, C2orf34	Calmodulin lysine N-methyltransferase	609559						Camkmt
2:44,941,702-44,946,071 2p21	SIX3, HPE2	SIX homeobox 3	603714	Holoprosencephaly 2	157170	Autosomal dominant	3		Six3
2:44,941,702-44,946,071 2p21	SIX3, HPE2	SIX homeobox 3	603714	Schizencephaly	269160		3		Six3
2:45,005,182-45,009,452 2p21	SIX2	SIX homeobox 2	604994						Six2
2:45,651,279-46,187,990 2p21	PRKCE, PKCE	Protein kinase C, epsilon	176975						Prkce

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Printed: July 25, 2024