Gene Map - Chromosome: 2

OMIM Gene/Loci: 210 - 219 of 1,183 on Chromosome 2 (All Entries)

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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)
2:42,767,089 2p21	HAAO, VCRL1	3-hydroxyanthranilate 3,4-dioxygenase	604521	Vertebral, cardiac, renal, and limb defects syndrome 1	617660	AR	3		Haao
2:43,222,402 2p21	ZFP36L2, ERF2, TIS11D, OZEMA13	Zinc finger protein 36-like 2	612053	Oocyte/zygote/embryo maturation arrest 13	620154	AR	3		Zfp36l2
2:43,230,851 2p21	THADA, KIAA1767	THADA armadillo repeat containing	611800						Thada
2:43,637,260 2p21	PLEKHH2	Pleckstrin homology domain-containing protein, family H, member 2	612723						Plekhh2
2:43,774,039 2p21	DYNC2LI1, D2LIC, LIC3, SRTD15	Dynein, cytoplasmic 2, light intermediate chain 1	617083	Short-rib thoracic dysplasia 15 with polydactyly	617088	AR	3		Dync2li1
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

pter | « Towards pter | Towards qter » | qter

OMIM Gene/Loci: 210 - 219 of 1,183 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)
2:42,767,089-42,792,583 2p21	HAAO, VCRL1	3-hydroxyanthranilate 3,4-dioxygenase	604521	Vertebral, cardiac, renal, and limb defects syndrome 1	617660	Autosomal recessive	3		Haao
2:43,222,402-43,226,606 2p21	ZFP36L2, ERF2, TIS11D, OZEMA13	Zinc finger protein 36-like 2	612053	Oocyte/zygote/embryo maturation arrest 13	620154	Autosomal recessive	3		Zfp36l2
2:43,230,851-43,596,038 2p21	THADA, KIAA1767	THADA armadillo repeat containing	611800						Thada
2:43,637,260-43,767,987 2p21	PLEKHH2	Pleckstrin homology domain-containing protein, family H, member 2	612723						Plekhh2
2:43,774,039-43,828,347 2p21	DYNC2LI1, D2LIC, LIC3, SRTD15	Dynein, cytoplasmic 2, light intermediate chain 1	617083	Short-rib thoracic dysplasia 15 with polydactyly	617088	Autosomal recessive	3		Dync2li1
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

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Printed: July 8, 2024