KEGG T01001: 6443

Homo sapiens (human): 6443

Entry

6443 CDS T01001

Gene name

SGCB, A3b, LGMD2E, SGC

Definition

sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)

Orthology

K12566

beta-sarcoglycan

Organism

hsa Homo sapiens (human)

Pathway

hsa05410	Hypertrophic cardiomyopathy (HCM)
hsa05412	Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414	Dilated cardiomyopathy
hsa05416	Viral myocarditis

Disease

H00565	Sarcoglycanopathies
H00593	Limb-girdle muscular dystrophy (LGMD)

Class

Human Diseases; Cardiovascular diseases; Hypertrophic cardiomyopathy (HCM) [PATH:hsa05410]
Human Diseases; Cardiovascular diseases; Arrhythmogenic right ventricular cardiomyopathy (ARVC) [PATH:hsa05412]
Human Diseases; Cardiovascular diseases; Dilated cardiomyopathy (DCM) [PATH:hsa05414]
Human Diseases; Cardiovascular diseases; Viral myocarditis [PATH:hsa05416]

SSDB

Motif

Pfam:

Sarcoglycan_1

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

4q12

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

Ontology (1)   
   KEGG BRITE (1)   
Pathway (4)   
   KEGG PATHWAY (4)   
Disease (4)   
   KEGG DISEASE (2)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (19)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (11)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (2)   
   RefSeq(pep) (1)   
DNA sequence (29)   
   RefSeq(nuc) (1)   
   GenBank (14)   
   EMBL (14)   
Protein domain (1)   
   Pfam (1)   
All databases (62)   

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