| Tdark | Protein FAM69A |
This gene encodes a member of the FAM69 family of cysteine-rich type II transmembrane proteins. These proteins localize to the endoplasmic reticulum but their specific functions are unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Cognitive disorder | 44 | 0.0 | 1.0 |
| Multiple Sclerosis | 498 | 0.0 | 2.0 |
| Disease | Target Count |
|---|---|
| Diamond-Blackfan anemia 6 | 2 |
| PMID | Text | |
|---|---|---|
| 20087403 | An analysis and fine mapping of GFI-EVI5-RPL5-FAM69A locus, genotyping eight Tag-single nucleotide polymorphisms in 732 multiple sclerosis patients and 974 controls from Spain, was performed. | |
| 20087403 | Observational study of gene-disease association. (HuGE Navigator) | |
| 19834503 | Observational study and meta-analysis of gene-disease association. (HuGE Navigator) | |
| 19506219 | Observational study of gene-disease association. (HuGE Navigator) |
MARSLCPGAWLRKPYYLQARFSYVRMKYLFFSWLVVFVGSWIIYVQYSTYTELCRGKDCKKIICDKYKTG 1 - 70 VIDGPACNSLCVTETLYFGKCLSTKPNNQMYLGIWDNLPGVVKCQMEQALHLDFGTELEPRKEIVLFDKP 71 - 140 TRGTTVQKFKEMVYSLFKAKLGDQGNLSELVNLILTVADGDKDGQVSLGEAKSAWALLQLNEFLLMVILQ 141 - 210 DKEHTPKLMGFCGDLYVMESVEYTSLYGISLPWVIELFIPSGFRRSMDQLFTPSWPRKAKIAIGLLEFVE 211 - 280 DVFHGPYGNFLMCDTSAKNLGYNDKYDLKMVDMRKIVPETNLKELIKDRHCESDLDCVYGTDCRTSCDQS 281 - 350 TMKCTSEVIQPNLAKACQLLKDYLLRGAPSEIREELEKQLYSCIALKVTANQMEMEHSLILNNLKTLLWK 351 - 420 KISYTNDS 421 - 428 //
| PMID | Year | Title | |
|---|---|---|---|
| 23840464 | 2013 | A novel predicted calcium-regulated kinase family implicated in neurological disorders. | |
| 21334309 | 2011 | Characterisation of the FAM69 family of cysteine-rich endoplasmic reticulum proteins. | |
| 20889312 | 2010 | A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. | |
| 20881960 | 2010 | Hundreds of variants clustered in genomic loci and biological pathways affect human height. | |
| 20087403 | 2010 | Tag-SNP analysis of the GFI1-EVI5-RPL5-FAM69 risk locus for multiple sclerosis. | |
| 19834503 | 2009 | Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis. | |
| 19525955 | 2009 | Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. | |
| 19506219 | 2009 | Risk alleles for multiple sclerosis in multiplex families. | |
| 17660530 | 2007 | Risk alleles for multiple sclerosis identified by a genomewide study. | |
| 17207965 | 2007 | hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. | |
| 16710414 | 2006 | The DNA sequence and biological annotation of human chromosome 1. | |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. | |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |
