Description: Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA. RefSeq Summary (NM_000086): This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr16:28,488,785-28,503,156 Size: 14,372 Total Exon Count: 14 Strand: -
Crohn Disease Andre Franke et al. Nature genetics 2010, Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci., Nature genetics.
[PubMed 21102463]
inflammatory bowel disease (early onset) Imielinski ,et al. 2009, Common variants at five new loci associated with early-onset inflammatory bowel disease, Nature genetics 2009 41- 12 : 1335-40.
[PubMed 19915574]
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Descriptions from all associated GenBank mRNAs
BC111068 - Homo sapiens ceroid-lipofuscinosis, neuronal 3, mRNA (cDNA clone MGC:102840 IMAGE:5764535), complete cds. BC002394 - Homo sapiens ceroid-lipofuscinosis, neuronal 3, mRNA (cDNA clone MGC:8415 IMAGE:2820893), complete cds. BC004433 - Homo sapiens ceroid-lipofuscinosis, neuronal 3, mRNA (cDNA clone MGC:3974 IMAGE:2820893), complete cds. U32680 - Homo sapiens CLN3 protein (CLN3) mRNA, complete cds. AK294070 - Homo sapiens cDNA FLJ60087 complete cds, highly similar to Protein CLN3. AK302027 - Homo sapiens cDNA FLJ58551 complete cds, highly similar to Protein CLN3. AK090709 - Homo sapiens cDNA FLJ33390 fis, clone BRACE2006900, highly similar to CLN3 PROTEIN. AX746584 - Sequence 109 from Patent EP1308459. AK297690 - Homo sapiens cDNA FLJ59353 complete cds, highly similar to Protein CLN3. JD099989 - Sequence 81013 from Patent EP1572962. AF015593 - Homo sapiens CLN3 protein (CLN3) mRNA, complete cds. AF015595 - Homo sapiens CLN3 protein (CLN3) mRNA, complete cds. JD280455 - Sequence 261479 from Patent EP1572962. AF015598 - Homo sapiens CLN3 protein (CLN3) mRNA, complete cds. AF077956 - Homo sapiens clone 412 CLN3 protein (CLN3) mRNA, complete cds. AF077957 - Homo sapiens clone 313 CLN3 protein (CLN3) mRNA, complete cds. AF077958 - Homo sapiens clone 301 CLN3 protein (CLN3) mRNA, complete cds. AF077959 - Homo sapiens clone 305 CLN3 protein (CLN3) mRNA, complete cds. AF077960 - Homo sapiens clone 318 CLN3 protein (CLN3) mRNA, complete cds. AF077961 - Homo sapiens clone 327 CLN3 protein (CLN3) mRNA, complete cds. AF077962 - Homo sapiens clone 333 CLN3 protein (CLN3) mRNA, complete cds. AF077963 - Homo sapiens clone 324 CLN3 protein (CLN3) mRNA, complete cds. AF077964 - Homo sapiens clone 326 CLN3 protein (CLN3) mRNA, complete cds. AF077965 - Homo sapiens clone 319 CLN3 protein (CLN3) mRNA, complete cds. AF077966 - Homo sapiens clone 506 CLN3 protein (CLN3) mRNA, complete cds. AF077967 - Homo sapiens clone 509 CLN3 protein (CLN3) mRNA, complete cds. AF077968 - Homo sapiens clone 503 CLN3 protein (CLN3) mRNA, complete cds. AF077969 - Homo sapiens clone 515 CLN3 protein (CLN3) mRNA, complete cds. AF077970 - Homo sapiens clone 517 CLN3 protein (CLN3) mRNA, complete cds. AF077971 - Homo sapiens clone 21 CLN3 protein (CLN3) mRNA, complete cds. AF077972 - Homo sapiens clone 32 CLN3 protein (CLN3) mRNA, complete cds. AF077973 - Homo sapiens clone 36 CLN3 protein (CLN3) mRNA, complete cds. AF078169 - Homo sapiens CLN3 protein (CLN3) mRNA, complete cds. AK313002 - Homo sapiens cDNA, FLJ93467, highly similar to Homo sapiens ceroid-lipofuscinosis, neuronal 3, juvenile (Batten, Spielmeyer-Vogt disease) (CLN3), mRNA. AF015594 - Homo sapiens CLN3 protein (CLN3) mRNA, partial cds. AF015600 - Homo sapiens CLN3 protein (CLN3) mRNA, partial cds. AK302138 - Homo sapiens cDNA FLJ59098 complete cds, highly similar to Protein CLN3. EF587244 - Homo sapiens mutant CLN3 (CLN3) mRNA, partial cds, alternatively spliced. AF015601 - Homo sapiens CLN3 protein (CLN3) mRNA, partial cds. AF015597 - Homo sapiens CLN3 protein (CLN3) mRNA, partial cds. AK294250 - Homo sapiens cDNA FLJ59870 complete cds, highly similar to Protein CLN3. AK295500 - Homo sapiens cDNA FLJ59896 complete cds, highly similar to Protein CLN3. AF015599 - Homo sapiens CLN3 protein (CLN3) mRNA, partial cds. AF015602 - Homo sapiens CLN3 protein (CLN3) mRNA, partial cds. EF587245 - Homo sapiens mutant CLN3 (CLN3) mRNA, partial cds, alternatively spliced. AF015596 - Homo sapiens CLN3 protein (CLN3) mRNA, partial cds. AF078168 - Homo sapiens CLN3 protein (CLN3) mRNA, alternative splice product, partial cds.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa04142 - Lysosome