KEGG T01001: 6442

Homo sapiens (human): 6442

Entry

6442 CDS T01001

Gene name

SGCA, 50-DAG, A2, ADL, DAG2, DMDA2, LGMD2D, SCARMD1, adhalin

Definition

sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)

Orthology

K12565

alpha-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_2

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Position

17q21

AA seq 387 aa
MAETLFWTPLLVVLLAGLGDTEAQQTTLHPLVGRVFVHTLDHETFLSLPEHVAVPPAVHI
TYHAHLQGHPDLPRWLRYTQRSPHHPGFLYGSATPEDRGLQVIEVTAYNRDSFDTTRQRL
VLEIGDPEGPLLPYQAEFLVRSHDAEEVLPSTPASRFLSALGGLWEPGELQLLNVTSALD
RGGRVPLPIEGRKEGVYIKVGSASPFSTCLKMVASPDSHARCAQGQPPLLSCYDTLAPHF
RVDWCNVTLVDKSVPEPADEVPTPGDGILEHDPFFCPPTEAPDRDFLVDALVTLLVPLLV
ALLLTLLLAYVMCCRREGRLKRDLATSDIQMVHHCTIHGNTEELRQMAASREVPRPLSTL
PMFNVHTGERLPPRVDSAQVPLILDQH

NT seq 1164 nt +upstreamnt +downstreamnt
atggctgagacactcttctggactcctctcctcgtggttctcctggcagggctgggggac
accgaggcccagcagaccacgctacacccacttgtgggccgtgtctttgtgcacaccttg
gaccatgagacgtttctgagccttcctgagcatgtcgctgtcccacccgctgtccacatc
acctaccacgcccacctccagggacacccagacctgccccggtggctccgctacacccag
cgcagcccccaccaccctggcttcctctacggctctgccaccccagaagatcgtgggctc
caggtcattgaggtcacagcctacaatcgggacagctttgataccactcggcagaggctg
gtgctggagattggggacccagaaggccccctgctgccataccaagccgagttcctggtg
cgcagccacgatgcggaggaggtgctgccctcaacacctgccagccgcttcctctcagcc
ttggggggactctgggagcccggagagcttcagctgctcaacgtcacctctgccttggac
cgtgggggccgtgtcccccttcccattgagggccgaaaagaaggggtatacattaaggtg
ggttctgcctcacctttttctacttgcctgaagatggtggcatcccccgatagccacgcc
cgctgtgcccagggccagcctccacttctgtcttgctacgacaccttggcaccccacttc
cgcgttgactggtgcaatgtgaccctggtggataagtcagtgccggagcctgcagatgag
gtgcccaccccaggtgatgggatcctggagcatgacccgttcttctgcccacccactgag
gccccagaccgtgacttcttggtggatgctctggtcaccctcctggtgcccctgctggtg
gccctgcttctcaccttgctgctggcctatgtcatgtgctgccggcgggagggaaggctg
aagagagacctggctacctccgacatccagatggtccaccactgcaccatccacgggaac
acagaggagctgcggcagatggcggccagccgcgaggtgccccggccactctccaccctg
cccatgttcaatgtgcacacaggtgagcggctgcctccccgcgtggacagcgcccaggtg
cccctcattctggaccagcactga

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 (17)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (9)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (3)   
   UniProt (1)   
   RefSeq(pep) (2)   
DNA sequence (20)   
   RefSeq(nuc) (2)   
   GenBank (9)   
   EMBL (9)   
Protein domain (1)   
   Pfam (1)   
All databases (51)   

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