SynDB Home Page
SynDB Home Page

blue bulletSynDB protein details  

Parse error: syntax error, unexpected T_VARIABLE in /home/kongl/syndb/www/sdb_nats.php on line 52
0TMC2_HUMAN*   SwissProt (?) | Description Local Annotation Link Reference
General Information
DescriptionTransmembrane cochlear-expressed protein 2.
SpeciesHomo sapiens (NCBI taxonomy ID: 9606)
Domain Architecture (Details)
InterPro domains unassigned to SynO:
These sequences are similar to a region conserved amongst various protein products of the transmembrane channel-like (TMC) gene family.uch as Transmembrane channel-like protein 3 () and EVIN2 () - this region is termed the TMC domain . Mutations in these genes are implicated in a number of human conditions.uch as deafness and epidermodysplasia verruciformis . TMC proteins are thought to have important cellular roles.nd may be modifiers of ion channels or transporters .
SequencesProtein: TMC2_HUMAN (906 aa)
mRNA: AF417580 NM_080751
Local Annotation
Synapse Ontology
Calcium release from RyR (Ryanodine Receptor) in the SR (Sarcoplasmic Reticulum) is activated by the calcium induced-calcium-release
sdb:0325 RyR-CICR  (Evidence:keywords)
KO assignmentNot mapped to KEGG
Loci Structure (Details)Loci index, Chromosomal location, Length, Possible relational loci clusterExon1: 17 residues, 2465252-2465301Exon2: 18 residues, 2465914-2465962Exon3: 108 residues, 2487101-2487420Exon4: 53 residues, 2490503-2490656Exon5: 32 residues, 2500824-2500915Exon6: 29 residues, 2507791-2507873Exon7: 37 residues, 2508595-2508702Exon8: 35 residues, 2520955-2521054Exon9: 49 residues, 2523470-2523613Exon10: 51 residues, 2525796-2525944Exon11: 65 residues, 2530758-2530947Exon12: 62 residues, 2539064-2539244Exon13: 52 residues, 2540836-2540986Exon14: 45 residues, 2541839-2541968Exon15: 24 residues, 2544782-2544850Exon16: 82 residues, 2545717-2545957Exon17: 44 residues, 2552916-2553042Exon18: 28 residues, 2564571-2564650Exon19: 41 residues, 2566119-2566237Exon20: 219 residues, 2569779-2570430Exon21: 2 residues, -Jump to TMC2_HUMANExon1: 17 residues, 2465252-2465301Exon2: 108 residues, 2487101-2487420Exon3: 53 residues, 2490503-2490656Exon4: 32 residues, 2500824-2500915Exon5: 29 residues, 2507791-2507873Exon6: 37 residues, 2508595-2508702Exon7: 35 residues, 2520955-2521054Exon8: 49 residues, 2523470-2523613Exon9: 51 residues, 2525796-2525944Exon10: 65 residues, 2530758-2530947Exon11: 62 residues, 2539064-2539244Exon12: 52 residues, 2540836-2540986Exon13: 45 residues, 2541839-2541968Exon14: 24 residues, 2544782-2544850Exon15: 82 residues, 2545717-2545957Exon16: 44 residues, 2552916-2553042Exon17: 28 residues, 2564571-2564650Exon18: 41 residues, 2566119-2566237Exon19: 219 residues, 2569779-2570430Exon20: 2 residues, -Jump to TMC2_HUMAN  
Tune and view alternative isoforms
Loci Cluster (Details)Loci: 3230 2769372-2795377 ~-26K 22579(VPS16)(+)Loci: 3229 2465252-2570430 ~-105K 22557(TMC2)(+)Link out to UCSC