KEGG   Homo sapiens (human): 6443
Entry
6443              CDS       T01001                                 
Symbol
SGCB, A3b, LGMD2E, LGMDR4, SGC
Name
(RefSeq) sarcoglycan beta
  KO
K12566  beta-sarcoglycan
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
hsa05416  Viral myocarditis
Network
nt06539  Cytoskeleton in muscle cells
  Element
N01816  Costamere
Disease
H00565  Sarcoglycanopathies
H00593  Limb-girdle muscular dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    6443 (SGCB)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    6443 (SGCB)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    6443 (SGCB)
   05414 Dilated cardiomyopathy
    6443 (SGCB)
   05416 Viral myocarditis
    6443 (SGCB)
SSDB
Motif
Pfam: Sarcoglycan_1
Other DBs
NCBI-GeneID: 6443
NCBI-ProteinID: NP_000223
OMIM: 600900
HGNC: 10806
Ensembl: ENSG00000163069
UniProt: Q16585 Q5U0N0
Position
4:complement(52020706..52038299)
AA seq 318 aa
MAAAAAAAAEQQSSNGPVKKSMREKAVERRSVNKEHNSNFKAGYIPIDEDRLHKTGLRGR
KGNLAICVIILLFILAVINLIITLVIWAVIRIGPNGCDSMEFHESGLLRFKQVSDMGVIH
PLYKSTVGGRRNENLVITGNNQPIVFQQGTTKLSVENNKTSITSDIGMQFFDPRTQNILF
STDYETHEFHLPSGVKSLNVQKASTERITSNATSDLNIKVDGRAIVRGNEGVFIMGKTIE
FHMGGNMELKAENSIILNGSVMVSTTRLPSSSSGDQLGSGDWVRYKLCMCADGTLFKVQV
TSQNMGCQISDNPCGNTH
NT seq 957 nt   +upstreamnt  +downstreamnt
atggcggcagcggcggcggcggctgcagaacagcaaagttccaatggtcctgtaaagaag
tccatgcgtgagaaggctgttgagagaaggagtgtcaataaagagcacaacagtaacttt
aaagctggatacattccgattgatgaagatcgtctccacaaaacagggttgagaggaaga
aagggcaatttagccatctgtgtgattatcctcttgtttatcctggctgtcatcaattta
ataataacacttgttatttgggccgtgattcgcattggaccaaatggctgtgatagtatg
gagtttcatgaaagtggcctgcttcgatttaagcaagtatctgacatgggagtgatccac
cctctttataaaagcacagtaggaggaaggcgaaatgaaaatttggtcatcactggcaac
aaccagcctattgtttttcagcaagggacaacaaagctcagtgtagaaaacaacaaaact
tctattacaagtgacatcggcatgcagttttttgacccgaggactcaaaatatcttattc
agcacagactatgaaactcatgagtttcatttgccaagtggagtgaaaagtttgaatgtt
caaaaggcatctactgaaaggattaccagcaatgctaccagtgatttaaatataaaagtt
gatgggcgtgctattgtgcgtggaaatgaaggtgtattcattatgggcaaaaccattgaa
tttcacatgggtggtaatatggagttaaaggcggaaaacagtatcatcctaaatggatct
gtgatggtcagcaccacccgcctacccagttcctccagtggagaccagttgggtagtggt
gactgggtacgctacaagctctgcatgtgtgctgatgggacgctcttcaaggtgcaagta
accagccagaacatgggctgccaaatctcagacaacccctgtggaaacactcattaa

  All links  
Disease (2)   
   OMIM (2)   
Gene (13)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
Protein sequence (12)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (9)   
DNA sequence (31)   
   RefSeq(nuc) (9)   
   GenBank (11)   
   EMBL (11)   
Protein domain (1)   
   Pfam (1)   
All databases (59)   

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