| 1317694 | CHD5 | chromodomain helicase DNA binding protein 5 | This gene encodes a member of the chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. [provided by RefSeq, Feb 2012] | 1 | 6101787 | 6180321 | Human | 168 | symbol , old_gene_name , COSMIC , Human Proteome Map | gene, protein-coding, VALIDATED [RefSeq] |
| 1321381 | CHD6 | chromodomain helicase DNA binding protein 6 | This gene encodes a member of the SNF2/RAD54 helicase protein family. The encoded protein contains two chromodomains, a helicase domain, and an ATPase domain. Several multi-subunit protein complexes remodel chromatin to allow patterns of cell type-specific gene expression, and the encoded protein is thought to be a core member of one or more of these chromatin remodeling complexes. The encoded protein may function as a transcriptional repressor and is involved in the cellular repression of influenza virus replication. [provided by RefSeq, Jul 2013] | 20 | 41402083 | 41618377 | Human | 146 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1352136 | GET1 | guided entry of tail-anchored proteins factor 1 | This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated diff erentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017] | 21 | 39380326 | 39428528 | Human | 98 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1601887 | KALRN | kalirin RhoGEF kinase | Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding prote in that may function in vesicle trafficking. [provided by RefSeq, Apr 2016] | 3 | 124033369 | 124726325 | Human | 214 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |