Gene Map - Chromosome: 2

OMIM Gene/Loci: 1 - 10 of 419 on Chromosome 2 (Phenotype Only 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)
2:1 2pter-p24	CTRCT29	Cataract 29, coralliform	115800	Cataract 29, coralliform	115800	AD	2	between D2S297 and D2S2269
2:1 2p25-p22	ETM2, ETM	Tremor, hereditary essential, 2	602134	Essential tremor, hereditary, 2	602134	AD	2	max lod at D2S272
2:1 2p25-p24	HYT3	Hypertension, essential, susceptibility to, 3	607329	{Hypertension, essential, susceptibility to, 3}	145500	Mu	2
2:1 2p25	PEE2	Preeclampsia/eclampsia 2	609402	Preeclampsia/eclampsia 2	609402		2
2:1 2p25-p12	PPKP3	Keratoderma, palmoplantar, punctate type III	101850	?Keratoderma, palmoplantar, punctate type 3	101850	AD	2	max lod at ACP1 and IGKC
2:1,374,047 2p25.3	TPO, TPX, TDH2A	Thyroid peroxidase	606765	Thyroid dyshormonogenesis 2A	274500	AR	3		Tpo
2:1,631,887 2p25.3	PXDN, D2S448E, KIAA0230, PRG2, PXN, COPOA, ASGD7	Peroxidasin	605158	Anterior segment dysgenesis 7, with sclerocornea	269400	AR	3		Pxdn
2:1,789,113 2p25.3	MYT1L, KIAA1106, MRD39	Myelin transcription factor 1-like	613084	Intellectual developmental disorder, autosomal dominant 39	616521	AD	3		Myt1l
2:3,379,694 2p25.3	TRAPPC12, TTC15, PEBAS	Trafficking protein particle complex, subunit 12	614139	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	617669	AR	3		Trappc12
2:3,531,813 2p25.3	RNASEH1, PEOB2	Ribonuclease H1	604123	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	AR	3	pseudogenes on chr. 17 and chr.1	Rnaseh1

pter | « Towards pter | Towards qter » | qter

OMIM Gene/Loci: 1 - 10 of 419 on Chromosome 2 (Phenotype Only 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)
2:1-23,800,000 2pter-p24	CTRCT29	Cataract 29, coralliform	115800	Cataract 29, coralliform	115800	Autosomal dominant	2	between D2S297 and D2S2269
2:1-41,500,000 2p25-p22	ETM2, ETM	Tremor, hereditary essential, 2	602134	Essential tremor, hereditary, 2	602134	Autosomal dominant	2	max lod at D2S272
2:1-23,800,000 2p25-p24	HYT3	Hypertension, essential, susceptibility to, 3	607329	{Hypertension, essential, susceptibility to, 3}	145500	Multifactorial	2
2:1-12,000,000 2p25	PEE2	Preeclampsia/eclampsia 2	609402	Preeclampsia/eclampsia 2	609402		2
2:1-83,100,000 2p25-p12	PPKP3	Keratoderma, palmoplantar, punctate type III	101850	?Keratoderma, palmoplantar, punctate type 3	101850	Autosomal dominant	2	max lod at ACP1 and IGKC
2:1,374,047-1,543,673 2p25.3	TPO, TPX, TDH2A	Thyroid peroxidase	606765	Thyroid dyshormonogenesis 2A	274500	Autosomal recessive	3		Tpo
2:1,631,887-1,744,901 2p25.3	PXDN, D2S448E, KIAA0230, PRG2, PXN, COPOA, ASGD7	Peroxidasin	605158	Anterior segment dysgenesis 7, with sclerocornea	269400	Autosomal recessive	3		Pxdn
2:1,789,113-2,331,275 2p25.3	MYT1L, KIAA1106, MRD39	Myelin transcription factor 1-like	613084	Intellectual developmental disorder, autosomal dominant 39	616521	Autosomal dominant	3		Myt1l
2:3,379,694-3,479,565 2p25.3	TRAPPC12, TTC15, PEBAS	Trafficking protein particle complex, subunit 12	614139	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	617669	Autosomal recessive	3		Trappc12
2:3,531,813-3,558,333 2p25.3	RNASEH1, PEOB2	Ribonuclease H1	604123	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2	616479	Autosomal recessive	3	pseudogenes on chr. 17 and chr.1	Rnaseh1

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Printed: July 5, 2024