Harmonizome 3.0

transmembrane anterior posterior transformation 1

This gene encodes a highly conserved protein that localizes to the centrosome and/or ciliary basal body. Mutations in this gene disrupt Golgi morphology and trafficking and normal primary cilium formation and these mutations are congenitally manifested by severe undermineralization of the intra-uterine skeleton. A mutation in the mouse ortholog of this gene results in homeotic, posterior-to-anterior transformations of the axial skeleton which are similar to the phenotype of mouse homeobox C8 gene mutants. In mouse, this gene is thought to function downstream of homeobox C8 to transduce extracellular patterning information during axial skeleton development. [provided by RefSeq, Jan 2017]

mesoderm posterior basic helix-loop-helix transcription factor 1

Enables DNA-binding transcription factor activity and transcription cis-regulatory region binding activity. Involved in several processes, including endothelial cell differentiation; heart development; and positive regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. Predicted to be active in nucleus. Implicated in myocardial infarction. Biomarker of diabetic retinopathy. [provided by Alliance of Genome Resources, Mar 2025]

mesoderm posterior basic helix-loop-helix transcription factor 2

This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008]

ossification of posterior longitudinal ligament of spine

Cataract, posterior polar, 5

Cataract, posterior polar

retinitis pigmentosa 34 (X-linked recessive)

retinitis pigmentosa GTPase regulator interacting protein 1

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]

retinitis pigmentosa 9 pseudogene

retinitis pigmentosa 1 (autosomal dominant)

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]

retinitis pigmentosa 2 (X-linked recessive)

The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly-folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death [provided by RefSeq, Jul 2008]

retinitis pigmentosa 6 (X-linked recessive)

retinitis pigmentosa 9 (autosomal dominant)

The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]

retinitis pigmentosa 24 (X-linked recessive)

retinitis pigmentosa 22 (autosomal recessive)

retinitis pigmentosa 29 (autosomal recessive)

Retinitis pigmentosa, Y-linked

retinitis pigmentosa GTPase regulator

This gene encodes a protein with a series of six RCC1-like domains (RLDs), characteristic of the highly conserved guanine nucleotide exchange factors. The encoded protein is found in the Golgi body and interacts with RPGRIP1. This protein localizes to the outer segment of rod photoreceptors and is essential for their viability. Mutations in this gene have been associated with X-linked retinitis pigmentosa (XLRP). Multiple alternatively spliced transcript variants that encode different isoforms of this gene have been reported, but the full-length natures of only some have been determined. [provided by RefSeq, Dec 2008]

retinitis pigmentosa 32 (autosomal recessive)

retinitis pigmentosa 1-like 1

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]

retinitis pigmentosa 9 (autosomal dominant) pseudogene

Deafness, cataract, retinitis pigmentosa, and sperm abnormalities

retinitis pigmentosa 63 (autosomal dominant)

spinocerebellar ataxia, autosomal recessive 2

spinocerebellar ataxia, autosomal recessive 3

nuclear protein, ataxia-telangiectasia locus

Enables transcription coactivator activity and transcription corepressor activity. Involved in cell cycle G1/S phase transition and positive regulation of transcription by RNA polymerase II. Located in Cajal body; Gemini of coiled bodies; and cytoplasm. [provided by Alliance of Genome Resources, Mar 2025]

spinocerebellar ataxia with saccadic intrusions

Friedreich ataxia 2

cerebellar ataxia 3 (cerebellar parenchyma disorder 1)

spinocerebellar ataxia 20

spinocerebellar ataxia 21

spinocerebellar ataxia 25

spinocerebellar ataxia 26

Episodic ataxia, type 7

Ataxia, spastic, 3, autosomal recessive

spastic ataxia 1 (autosomal dominant)

spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)

Episodic ataxia, type 8

Episodic ataxia, type 3

spinocerebellar ataxia, X-linked 2

spinocerebellar ataxia, X-linked 3

spinocerebellar ataxia, X-linked 4

Spinocerebellar ataxia, X-linked 5

ataxia, cerebellar, Cayman type

This gene encodes a neuron-restricted protein that contains a CRAL-TRIO motif common to proteins that bind small lipophilic molecules. Mutations in this gene are associated with cerebellar ataxia, Cayman type. [provided by RefSeq, Jul 2008]

spinocerebellar ataxia 9

spinocerebellar ataxia 37

spinocerebellar ataxia 32

spinocerebellar ataxia 30