H-InvDB_9.0 released on May 27, 2015.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
H-Inv protein ID (HIP)
H-Inv gene family/group (HIF)
Accession number
Chromosome number
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Definition*
Data source ID
---
CCDS ID
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H-Invitational ID:
HIT000429605
Accession number:
AK310739
Created date:
26-Mar-2013
Last modified:
27-May-2015
Definition:
Similar to Dysferlin; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1;
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript annotation summary
H-Inv ID
HIT000429605
H-Inv cluster ID
HIX0002152
H-Inv protein ID
HIP000196764
Accession number
AK310739.1
CAGE tag ID
NA
EST ID
NA
Genomic location
Chromosome
2
Location
2p13.2
Position
71828402- 71892405
Strand
+
Transcript feature
NO;
Coding potential
Protein coding;
Definition
Similar to Dysferlin; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1;
Similarity category
Category: Similar to known protein(Category II).
Similar to known protein (
O75923
) [Identity/coverage = 97.368%/21.92%] to Homo sapiens (Human). protein.
Gene family / group
NA
Gene symbol/name
HGNC symbol
DYSF
HGNC aliases
"limb girdle muscular dystrophy 2B (autosomal recessive)"
HGNC name
dysferlin
DDBJ
NA
UniProt
DYSF
EC number
NA
KEGG metabolic pathway
NA
PubMed ID
9731526
;
9731527
;
10196375
;
10196377
;
10496277
;
11134403
;
11198284
;
11468312
;
11532985
;
11959863
;
12796534
;
14678801
;
14702039
;
15116377
;
15318348
;
15469449
;
15477515
;
15515206
;
15815621
;
15835269
;
16010686
;
16100712
;
16705711
;
16896923
;
16959974
;
16996541
;
17185750
;
17287450
;
17363620
;
17554076
;
18306167
;
18853459
;
21269460
;
ALL
;
Related H-InvDB links
Similarity Search Tool
Database links
RefSeq
NA
Ensembl
NA
Entrez Gene
Entrez Gene ID:8291
;
KEGG GENES
KEGG GENES(8291)
;
GeneCard
DYSF
;
*GeneCards is provided free to academic non-profit institutions.
etc
Human-Gene diversity Of Life-style related Diseases
;
Curation status
Auto-annotated
Notes
NA