| 1346223 | CLN8 | CLN8 transmembrane ER and ERGIC protein | This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartmen t. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017] | 8 | 1753059 | 1786570 | Human | 348 | symbol , COSMIC , name , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1359518 | Cln8 | CLN8, transmembrane ER and ERGIC protein | ENCODES a protein that exhibits ceramide binding (ortholog); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); associative learning (ortholog); ASSOCIATED WITH Animal Disease Models (ortholog); congenital myopathy 1A (ortholog); epilepsy (ortholog); FOUND IN endopl asmic reticulum (ortholog); endoplasmic reticulum-Golgi intermediate compartment (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; amitrole | 16 | 81451941 | 81462046 | Rat | 183 | symbol , PhenoGen , name | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1552276 | Cln8 | CLN8 transmembrane ER and ERGIC protein | Predicted to enable ceramide binding activity. Acts upstream of or within several processes, including adult walking behavior; glutamate reuptake; and neurofilament cytoskeleton organization. Located in endoplasmic reticulum. Is expressed in several structures, including adrenal gland; gonad; hemoly mphoid system gland; nervous system; and retina. Used to study neuronal ceroid lipofuscinosis 8. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 8 and neuronal ceroid lipofuscinosis 8 northern epilepsy variant. Orthologous to human CLN8 (CLN8 transmembrane ER and ERGIC protein). [provided by Alliance of Genome Resources, Jul 2025] | 8 | 14931335 | 14951720 | Mouse | 226 | symbol , PhenoGen , name , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8755619 | Cln8 | CLN8 transmembrane ER and ERGIC protein | ENCODES a protein that exhibits ceramide binding (ortholog); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); associative learning (ortholog); ASSOCIATED WITH Animal Disease Models (ortholog); congenital myopathy 1A (ortholog); epilepsy (ortholog); FOUND IN endopl asmic reticulum (ortholog); endoplasmic reticulum-Golgi intermediate compartment (ortholog) | NW_004955403 | 57926711 | 57938698 | Chinchilla | 46 | symbol , name | gene, protein-coding, MODEL [RefSeq] |
| 11785850 | CLN8 | CLN8 transmembrane ER and ERGIC protein | ENCODES a protein that exhibits ceramide binding (inferred); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); associative learning (ortholog); ASSOCIATED WITH Animal Disease Models (ortholog); congenital myopathy 1A (ortholog); epilepsy (ortholog); FOUND IN endopl asmic reticulum (inferred); endoplasmic reticulum-Golgi intermediate compartment (inferred); membrane (inferred) | 8 | 5587875 | 5606883 | Bonobo | 53 | symbol , name | gene, protein-coding, MODEL [RefSeq] |
| 12090590 | CLN8 | CLN8 transmembrane ER and ERGIC protein | ENCODES a protein that exhibits ceramide binding (ortholog); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); associative learning (ortholog); ASSOCIATED WITH neuronal ceroid lipofuscinosis 8; Animal Disease Models (ortholog); congenital myopathy 1A (ortholog); FO UND IN endoplasmic reticulum (ortholog); endoplasmic reticulum-Golgi intermediate compartment (ortholog) | 37 | 30863098 | 30885831 | Dog | 55 | symbol , old_gene_name , name | gene, protein-coding, PROVISIONAL [RefSeq] |
| 12687564 | Cln8 | CLN8 transmembrane ER and ERGIC protein | ENCODES a protein that exhibits ceramide binding (inferred); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); associative learning (ortholog); ASSOCIATED WITH Animal Disease Models (ortholog); congenital myopathy 1A (ortholog); epilepsy (ortholog); FOUND IN endopl asmic reticulum (inferred); endoplasmic reticulum-Golgi intermediate compartment (inferred); membrane (inferred) | NW_004936615 | 993092 | 999976 | Squirrel | 53 | symbol , name | gene, protein-coding, MODEL [RefSeq] |
| 288083161 | cln8 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 626022709 | Cln8 | CLN8 transmembrane ER and ERGIC protein | ENCODES a protein that exhibits ceramide binding (ortholog); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); associative learning (ortholog); ASSOCIATED WITH Animal Disease Models (ortholog); congenital myopathy 1A (ortholog); epilepsy (ortholog); FOUND IN endopl asmic reticulum (ortholog); endoplasmic reticulum-Golgi intermediate compartment (ortholog) | | | | Black Rat | 42 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 18914619 | Cln8 | CLN8 transmembrane ER and ERGIC protein | ENCODES a protein that exhibits ceramide binding (inferred); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); associative learning (ortholog); ASSOCIATED WITH Animal Disease Models (ortholog); congenital myopathy 1A (ortholog); epilepsy (ortholog); FOUND IN endopl asmic reticulum-Golgi intermediate compartment (ortholog) | | | | Naked Mole-Rat | 50 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 18430390 | CLN8 | CLN8 transmembrane ER and ERGIC protein | ENCODES a protein that exhibits ceramide binding (inferred); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); associative learning (ortholog); ASSOCIATED WITH Animal Disease Models (ortholog); congenital myopathy 1A (ortholog); epilepsy (ortholog); FOUND IN endopl asmic reticulum (inferred); endoplasmic reticulum-Golgi intermediate compartment (inferred); membrane (inferred) | | | | Green Monkey | 53 | symbol , old_gene_name , name | gene, protein-coding, MODEL [RefSeq] |
| 14065704 | CLN8 | CLN8 transmembrane ER and ERGIC protein | ENCODES a protein that exhibits ceramide binding (inferred); INVOLVED IN adult locomotory behavior (ortholog); adult walking behavior (ortholog); associative learning (ortholog); ASSOCIATED WITH Animal Disease Models (ortholog); congenital myopathy 1A (ortholog); epilepsy (ortholog); FOUND IN endopl asmic reticulum (inferred); endoplasmic reticulum-Golgi intermediate compartment (inferred); membrane (inferred) | | | | Pig | 53 | symbol , old_gene_name , name | gene, protein-coding, VALIDATED [RefSeq] |
| 288083162 | cln8.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 286209817 | cln8.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 16560032 | CLN8-AS1 | CLN8 antisense RNA 1 | INTERACTS WITH aristolochic acid A; okadaic acid | 8 | 1761963 | 1764584 | Human | 2 | symbol , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 62323 | Coil | coilin | Enables disulfide oxidoreductase activity. Predicted to be involved in spliceosomal snRNP assembly. Located in Cajal body and female germ cell nucleus. Is expressed in brain; dorsal grey horn; and early conceptus. Orthologous to human COIL (coilin). [provided by Alliance of Genome Resources, Jul 202 5] | 11 | 88864761 | 88882439 | Mouse | 77 | old_gene_symbol | gene, protein-coding, VALIDATED [RefSeq] |
| 735624 | COIL | coilin | The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [provided by RefSeq, Jul 2008] | 17 | 56938199 | 56961050 | Human | 91 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 1323138 | CERS5 | ceramide synthase 5 | This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splic ing results in multiple transcript variants. [provided by RefSeq, Aug 2013] | 12 | 50129289 | 50167369 | Human | 108 | description | gene, protein-coding, REVIEWED [RefSeq] |