> Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF)
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UGID:169855     UniGene Hs.252180     Homo sapiens (human)   DYSF Links
Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF)

Human protein-coding gene DYSF. Represented by 320 ESTs from 135 cDNA libraries. EST representation biased toward umbilical cord; neonate. Corresponds to 14 reference sequences (different isoforms). [UniGene 169855 - Hs.252180]

SELECTED PROTEIN SIMILARITIES
Comparison of cluster transcripts with RefSeq proteins. The alignments can suggest function of the cluster.
Best Hits and Hits from model organismsSpeciesId(%)Len(aa)
NP_001124453.1 DYSF gene product H. sapiens 100.0 2117
XP_003309136.1 PREDICTED: dysferlin P. troglodytes 99.6 2077
NP_001071162.1 dysferlin isoform 2 M. musculus 95.9 2098
XP_689416.4 PREDICTED: dysferlin D. rerio 74.5 2085
Other hits (2 of 36) [Show all]SpeciesId(%)Len(aa)
XP_003908848.1 PREDICTED: LOW QUALITY PROTEIN: dysferlin P. anubis 98.4 2115
XP_002799336.1 PREDICTED: dysferlin-like M. mulatta 97.9 2052

GENE EXPRESSION
Tissues and development stages from this gene's sequences survey gene expression. Links to other NCBI expression resources.
Restricted Expression: umbilical cord [show more like this]
neonate [show more like this]
EST Profile: Approximate expression patterns inferred from EST sources.
[Show more entries with profiles like this]
GEO Profiles: Experimental gene expression data (Gene Expression Omnibus).
cDNA Sources: brain; umbilical cord; placenta; blood; uncharacterized tissue; embryonic tissue; bone marrow; intestine; stomach; mixed; mouth; lung; testis; pancreas; muscle; thymus; spleen; liver; mammary gland; prostate; eye; kidney; thyroid; skin; uterus; heart; vascular; larynx; connective tissue; bladder; nerve; adrenal gland
MAPPING POSITION
Genomic location specified by transcript mapping, radiation hybrid mapping, genetic mapping or cytogenetic mapping.
Chromosome: 2
Map position: 2p13.3
UniSTS entry: Chr 2 A004Z44 [Map Viewer]
UniSTS entry: Chr 2 RH12659
SEQUENCES
Sequences representing this gene; mRNAs, ESTs, and gene predictions supported by transcribed sequences.

mRNA sequences (35)

AF075575.1 Homo sapiens dysferlin mRNA, complete cds PA
NM_003494.3 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 8, mRNA PA
DQ267935.1 Homo sapiens dysferlin_v1 (DYSF) mRNA, complete cds P
AK310739.1 Homo sapiens cDNA, FLJ17781 P
AK074104.1 Homo sapiens mRNA for FLJ00175 protein P
EU515166.1 Homo sapiens dysferlin variant V1_7 (DYSF) mRNA, complete cds, alternatively spliced P
EU515165.1 Homo sapiens dysferlin variant V1_6 (DYSF) mRNA, complete cds, alternatively spliced P
EU515164.1 Homo sapiens dysferlin variant V1_5 (DYSF) mRNA, complete cds, alternatively spliced P
EU515163.1 Homo sapiens dysferlin variant V1_4 (DYSF) mRNA, complete cds, alternatively spliced P
EU515162.1 Homo sapiens dysferlin variant V1_3 (DYSF) mRNA, complete cds, alternatively spliced P
EU515161.1 Homo sapiens dysferlin variant V1_2 (DYSF) mRNA, complete cds, alternatively spliced P
EU515160.1 Homo sapiens dysferlin variant 7 (DYSF) mRNA, complete cds, alternatively spliced P
EU515159.1 Homo sapiens dysferlin variant 6 (DYSF) mRNA, complete cds, alternatively spliced P
EU515158.1 Homo sapiens dysferlin variant 5 (DYSF) mRNA, complete cds, alternatively spliced P
EU515157.1 Homo sapiens dysferlin variant 4 (DYSF) mRNA, complete cds, alternatively spliced P
EU515156.1 Homo sapiens dysferlin variant 3 (DYSF) mRNA, complete cds, alternatively spliced P
EU515155.1 Homo sapiens dysferlin variant 2 (DYSF) mRNA, complete cds, alternatively spliced P
NM_001130455.1 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 2, mRNA PA
NM_001130987.1 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA P
NM_001130986.1 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 3, mRNA P
NM_001130985.1 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 4, mRNA P
NM_001130984.1 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 5, mRNA P
NM_001130983.1 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 6, mRNA P
NM_001130982.1 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 7, mRNA PA
NM_001130981.1 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 14, mRNA P
NM_001130980.1 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 13, mRNA P
NM_001130979.1 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 12, mRNA P
NM_001130978.1 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 11, mRNA P
NM_001130977.1 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 10, mRNA P
NM_001130976.1 Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 9, mRNA P
AK074649.1 Homo sapiens cDNA FLJ90168 fis, clone MAMMA1000204, highly similar to Dysferlin P
BC171803.1 Homo sapiens cDNA clone IMAGE:9054457 P
AK303364.1 Homo sapiens cDNA FLJ59648 complete cds, highly similar to Dysferlin P
AK295004.1 Homo sapiens cDNA FLJ55344 complete cds, highly similar to Dysferlin P
BC038246.1 Homo sapiens, Similar to dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive), clone IMAGE:5405960, mRNA PA

EST sequences (10 of 320) [Show all sequences]

AA968638.1 Clone IMAGE:1578375 mixed 3' read
R21727.1 Clone IMAGE:130347 placenta 3' read
R21772.1 Clone IMAGE:130347 placenta 5' read P
R21773.1 Clone IMAGE:130349 placenta 5' read P
R22245.1 Clone IMAGE:130836 placenta 5' read
AI128455.1 Clone IMAGE:1711960 uterus 3' read
BX111346.1 Clone IMAGp998M04179_;_IMAGE:130347 placenta
AI192657.1 Clone IMAGE:1743550 lung 3' read
AI193492.1 Clone IMAGE:1743302 lung 3' read
CB154531.1 Clone B2N807043-27-H10 brain 5' read P


Key to Symbols

P Has similarity to known Proteins (after translation)
A Contains a poly-Adenylation signal
S Sequence is a Suboptimal member of this cluster
M Clone is putatively CDS-complete by MGC criteria

 
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