KEGG   Homo sapiens (human): 6442Help
Entry
6442              CDS       T01001                                 

Gene name
SGCA, 50DAG, ADL, DAG2, DMDA2, LGMD2D, LGMDR3, SCARMD1, adhalin
Definition
(RefSeq) sarcoglycan alpha
  KO
K12565  alpha-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)
    6442 (SGCA)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    6442 (SGCA)
   05414 Dilated cardiomyopathy (DCM)
    6442 (SGCA)
   05416 Viral myocarditis
    6442 (SGCA)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Sarcoglycan_2
Motif
Other DBs
NCBI-GeneID: 6442
NCBI-ProteinID: NP_000014
OMIM: 600119
HGNC: 10805
Ensembl: ENSG00000108823
Vega: OTTHUMG00000162024
Pharos: Q16586(Tbio)
UniProt: Q16586 A0A0S2Z4Q1
Position
17q21.33
AA seq 387 aa AA seqDB search
MAETLFWTPLLVVLLAGLGDTEAQQTTLHPLVGRVFVHTLDHETFLSLPEHVAVPPAVHI
TYHAHLQGHPDLPRWLRYTQRSPHHPGFLYGSATPEDRGLQVIEVTAYNRDSFDTTRQRL
VLEIGDPEGPLLPYQAEFLVRSHDAEEVLPSTPASRFLSALGGLWEPGELQLLNVTSALD
RGGRVPLPIEGRKEGVYIKVGSASPFSTCLKMVASPDSHARCAQGQPPLLSCYDTLAPHF
RVDWCNVTLVDKSVPEPADEVPTPGDGILEHDPFFCPPTEAPDRDFLVDALVTLLVPLLV
ALLLTLLLAYVMCCRREGRLKRDLATSDIQMVHHCTIHGNTEELRQMAASREVPRPLSTL
PMFNVHTGERLPPRVDSAQVPLILDQH
NT seq 1164 nt NT seq  +upstreamnt  +downstreamnt
atggctgagacactcttctggactcctctcctcgtggttctcctggcagggctgggggac
accgaggcccagcagaccacgctacacccacttgtgggccgtgtctttgtgcacaccttg
gaccatgagacgtttctgagccttcctgagcatgtcgctgtcccacccgctgtccacatc
acctaccacgcccacctccagggacacccagacctgccccggtggctccgctacacccag
cgcagcccccaccaccctggcttcctctacggctctgccaccccagaagatcgtgggctc
caggtcattgaggtcacagcctacaatcgggacagctttgataccactcggcagaggctg
gtgctggagattggggacccagaaggccccctgctgccataccaagccgagttcctggtg
cgcagccacgatgcggaggaggtgctgccctcaacacctgccagccgcttcctctcagcc
ttggggggactctgggagcccggagagcttcagctgctcaacgtcacctctgccttggac
cgtgggggccgtgtcccccttcccattgagggccgaaaagaaggggtatacattaaggtg
ggttctgcctcacctttttctacttgcctgaagatggtggcatcccccgatagccacgcc
cgctgtgcccagggccagcctccacttctgtcttgctacgacaccttggcaccccacttc
cgcgttgactggtgcaatgtgaccctggtggataagtcagtgccggagcctgcagatgag
gtgcccaccccaggtgatgggatcctggagcatgacccgttcttctgcccacccactgag
gccccagaccgtgacttcttggtggatgctctggtcaccctcctggtgcccctgctggtg
gccctgcttctcaccttgctgctggcctatgtcatgtgctgccggcgggagggaaggctg
aagagagacctggctacctccgacatccagatggtccaccactgcaccatccacgggaac
acagaggagctgcggcagatggcggccagccgcgaggtgccccggccactctccaccctg
cccatgttcaatgtgcacacaggtgagcggctgcctccccgcgtggacagcgcccaggtg
cccctcattctggaccagcactga

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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 (19)   
   KEGG ORTHOLOGY (1)   
   RefGene (7)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (11)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (8)   
DNA sequence (34)   
   RefSeq(nuc) (10)   
   GenBank (12)   
   EMBL (12)   
Protein domain (1)   
   Pfam (1)   
All databases (75)   

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