KEGG   Homo sapiens (human): 6443Help
Entry
6443              CDS       T01001                                 

Gene name
SGCB, A3b, LGMD2E, LGMDR4, SGC
Definition
(RefSeq) sarcoglycan beta
  KO
K12566  beta-sarcoglycan
Organism
hsa  Homo sapiens (human)
Pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
hsa05416  Viral myocarditis
Disease
H00565  Sarcoglycanopathies
H00593  Limb-girdle muscular dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy (HCM)
    6443 (SGCB)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    6443 (SGCB)
   05414 Dilated cardiomyopathy (DCM)
    6443 (SGCB)
   05416 Viral myocarditis
    6443 (SGCB)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Sarcoglycan_1
Motif
Other DBs
NCBI-GeneID: 6443
NCBI-ProteinID: NP_000223
OMIM: 600900
HGNC: 10806
Ensembl: ENSG00000163069
Vega: OTTHUMG00000128697
Pharos: Q16585(Tbio)
UniProt: Q16585 Q5U0N0
Position
4q12
AA seq 318 aa AA seqDB search
MAAAAAAAAEQQSSNGPVKKSMREKAVERRSVNKEHNSNFKAGYIPIDEDRLHKTGLRGR
KGNLAICVIILLFILAVINLIITLVIWAVIRIGPNGCDSMEFHESGLLRFKQVSDMGVIH
PLYKSTVGGRRNENLVITGNNQPIVFQQGTTKLSVENNKTSITSDIGMQFFDPRTQNILF
STDYETHEFHLPSGVKSLNVQKASTERITSNATSDLNIKVDGRAIVRGNEGVFIMGKTIE
FHMGGNMELKAENSIILNGSVMVSTTRLPSSSSGDQLGSGDWVRYKLCMCADGTLFKVQV
TSQNMGCQISDNPCGNTH
NT seq 957 nt NT seq  +upstreamnt  +downstreamnt
atggcggcagcggcggcggcggctgcagaacagcaaagttccaatggtcctgtaaagaag
tccatgcgtgagaaggctgttgagagaaggagtgtcaataaagagcacaacagtaacttt
aaagctggatacattccgattgatgaagatcgtctccacaaaacagggttgagaggaaga
aagggcaatttagccatctgtgtgattatcctcttgtttatcctggctgtcatcaattta
ataataacacttgttatttgggccgtgattcgcattggaccaaatggctgtgatagtatg
gagtttcatgaaagtggcctgcttcgatttaagcaagtatctgacatgggagtgatccac
cctctttataaaagcacagtaggaggaaggcgaaatgaaaatttggtcatcactggcaac
aaccagcctattgtttttcagcaagggacaacaaagctcagtgtagaaaacaacaaaact
tctattacaagtgacatcggcatgcagttttttgacccgaggactcaaaatatcttattc
agcacagactatgaaactcatgagtttcatttgccaagtggagtgaaaagtttgaatgtt
caaaaggcatctactgaaaggattaccagcaatgctaccagtgatttaaatataaaagtt
gatgggcgtgctattgtgcgtggaaatgaaggtgtattcattatgggcaaaaccattgaa
tttcacatgggtggtaatatggagttaaaggcggaaaacagtatcatcctaaatggatct
gtgatggtcagcaccacccgcctacccagttcctccagtggagaccagttgggtagtggt
gactgggtacgctacaagctctgcatgtgtgctgatgggacgctcttcaaggtgcaagta
accagccagaacatgggctgccaaatctcagacaacccctgtggaaacactcattaa

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Ontology (1)   
   KEGG BRITE (1)   
Pathway (4)   
   KEGG PATHWAY (4)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (16)   
   KEGG ORTHOLOGY (1)   
   RefGene (2)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (6)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (4)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (23)   
   RefSeq(nuc) (1)   
   GenBank (11)   
   EMBL (11)   
Protein domain (1)   
   Pfam (1)   
All databases (54)   

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