Gene Map - Chromosome: 2 - OMIM

OMIM Gene/Loci: 6 - 15 of 419 on Chromosome 2 (Phenotype Only Entries)
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)
2:1,374,047
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
2:3,575,260
2p25.3 		RPS7, DBA8 Ribosomal protein S7 603658 Diamond-Blackfan anemia 8 612563 AD 3 Rps7
2:3,595,112
2p25.3 		COLEC11, CLK1, 3MC2 Collectin 11 612502 3MC syndrome 2 265050 AR 3 Colec11
2:5,692,384
2p25.2 		SOX11, MRD27, IDDMOH SRY-box 11 600898 Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 615866 AD 3 Sox11
2:6,900,001
2p25.1-p24.3 		DFNB47 Deafness, neurosensory, autosomal recessive 47 609946 Deafness, neurosensory, autosomal recessive 47 609946 AR 2 max lod at D2S1400 and D2S262
2:8,721,081
2p25.1 		KIDINS220, ARMS, SINO, VENARG Kinase D-interacting substrate, 220kD 615759 Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 AD 3 Kidins220
Ventriculomegaly and arthrogryposis 619501 AR 3

pter  |  « Towards pter  |  Towards qter »  |  qter
OMIM Gene/Loci: 6 - 15 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)
2:1,374,047-1,543,673
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
2:3,575,260-3,580,920
2p25.3 		RPS7, DBA8 Ribosomal protein S7 603658 Diamond-Blackfan anemia 8 612563 Autosomal dominant 3 Rps7
2:3,595,112-3,644,644
2p25.3 		COLEC11, CLK1, 3MC2 Collectin 11 612502 3MC syndrome 2 265050 Autosomal recessive 3 Colec11
2:5,692,384-5,701,385
2p25.2 		SOX11, MRD27, IDDMOH SRY-box 11 600898 Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism 615866 Autosomal dominant 3 Sox11
2:6,900,001-16,500,000
2p25.1-p24.3 		DFNB47 Deafness, neurosensory, autosomal recessive 47 609946 Deafness, neurosensory, autosomal recessive 47 609946 Autosomal recessive 2 max lod at D2S1400 and D2S262
2:8,721,081-8,837,613
2p25.1 		KIDINS220, ARMS, SINO, VENARG Kinase D-interacting substrate, 220kD 615759 Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 Autosomal dominant 3 Kidins220
Ventriculomegaly and arthrogryposis 619501 Autosomal recessive 3


NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: July 8, 2024
-