H-InvDB_8.3 released on March 26, 2013.
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H-Inv ID (HIT)
H-Inv cluster ID (HIX)
H-Inv protein ID (HIP)
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---
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H-Invitational ID:
HIT000000461
Accession number:
AB018279
Created date:
26-Mar-2013
Last modified:
20-Apr-2012
Definition:
Synaptic vesicle glycoprotein 2A.
Select format
Flat file
XML file
Nucleotide sequence fasta
Protein sequence fasta
Transcript original information
Accession number
AB018279.1
CAGE tag ID
NA
EST ID
NA
Clone Number
hk03846
Experimental resources
NBRC
;
HGPD
;
Antibody (SV2A)
;
Catalog (SV2A)
;
Sequence data provider
Provider:
KDRI
;
Annotation project
H-Invitational FLcDNA
Length of cDNA
4353[bp] (No. of exon:13)[A:914 T:1066 G:1192 C:1181]
Devision
HUM
Molecular type
mRNA
Library origin
Cell type
NA
Tissue type
brain
Develpmental stage
adult
Sequence quality information
CDS feature
Complete CDS
Kozak sequence
NA
PolyA
NA
Vector/adapter sequence
NA
Frame shift
NA
Remaining intron
NA
Splice site acceptor (NAGNAG)
GAGCAG;
Transcript quality feature
NA
Notes
NA
GCCGGGAGCAGTCGCCGCTGCCGCCTCCGCCCGCGGCCGGGACCCCCGTC CTCGCCCGGGACTCCTTACCCGGGGAACCTAGACCAGGTCTCCAGAGGCT TGTGGAAGAGAAGCAGGCGACCCTTCCTGAGTTATCCTGGCTTAGCCTCC CAATCTGGCTCCCCTTCCCCTTCCCATTCCCCTGCTCCCCCTGTCCCTTC CCCATCCACCCAACTGAACTGGGTATAGGTCAAAGCTCCTCTCCTTCCTT TTCCTTCCTAGGCACTCATTGGCTAGGACCTGTTTGCTCTTTTTTTTGTG CCCAGAGATACTGGAACACGCTTCATCTAAGTAACTGTGGGGAGGGGTCT TTTTGACTCTACAAGTCCTTGAGCAAAAAGCTGAAAAAGAAGCAGGAGGT GGAGAAGACCCAGTGAAGTGCCCCAAGCCCCATCATGGAAGAGGGCTTCC GAGACCGGGCAGCTTTCATCCGTGGGGCCAAAGACATTGCTAAGGAAGTC AAAAAGCATGCGGCCAAGAAGGTGGTGAAGGGCCTGGACAGAGTCCAGGA CGAATATTCCCGAAGATCGTACTCCCGCTTTGAGGAGGAGGATGATGATG ATGACTTCCCTGCTCCCAGTGATGGTTATTACCGAGGAGAAGGGACCCAG GATGAGGAGGAAGGTGGTGCATCCAGTGATGCTACTGAGGGCCATGACGA GGATGATGAGATCTATGAAGGGGAATATCAGGGCATTCCCCGGGCAGAGT CTGGGGGCAAAGGCGAGCGGATGGCAGATGGGGCGCCCCTGGCTGGAGTA AGGGGGGGCTTGAGTGATGGGGAGGGTCCCCCTGGGGGCCGGGGGGAGGC ACAACGACGGAAAGAACGAGAAGAACTGGCCCAACAGTATGAAGCCATCC TACGGGAGTGTGGCCACGGCCGCTTCCAGTGGACACTGTATTTTGTGCTT GGTCTGGCGCTGATGGCTGACGGTGTGGAGGTCTTTGTGGTGGGCTTCGT GCTGCCCAGCGCTGAGAAAGACATGTGCCTGTCCGACTCCAACAAAGGCA TGCTAGGCCTCATCGTCTACCTGGGCATGATGGTGGGAGCCTTCCTCTGG GGAGGTCTGGCTGACCGGCTGGGTCGGAGGCAGTGTCTGCTCATCTCGCT CTCAGTCAACAGCGTCTTCGCCTTCTTCTCATCTTTTGTCCAGGGTTACG GCACTTTCCTCTTCTGCCGCCTACTTTCTGGGGTTGGGATTGGAGGGTCC ATCCCCATTGTCTTCTCCTATTTCTCCGAGTTTCTGGCCCAGGAGAAACG AGGGGAGCATTTGAGCTGGCTCTGCATGTTTTGGATGATTGGTGGCGTGT ACGCAGCTGCTATGGCCTGGGCCATCATCCCCCACTATGGGTGGAGTTTT CAGATGGGTTCTGCCTACCAGTTCCACAGCTGGAGGGTCTTCGTCCTCGT CTGCGCCTTTCCTTCTGTGTTTGCCATTGGGGCTCTGACCACGCAGCCTG AGAGCCCCCGTTTCTTCCTAGAGAATGGAAAGCATGATGAGGCCTGGATG GTGCTGAAGCAGGTCCATGATACCAACATGCGAGCCAAAGGACATCCTGA GCGAGTGTTCTCAGTAACCCACATTAAGACGATTCATCAGGAGGATGAAT TGATTGAGATCCAGTCGGACACAGGGACCTGGTACCAGCGCTGGGGGGTC CGGGCCTTGAGCCTAGGGGGGCAGGTTTGGGGGAATTTTCTCTCCTGTTT TGGTCCCGAATATCGGCGCATCACTCTGATGATGATGGGTGTGTGGTTCA CCATGTCATTCAGCTACTATGGCCTGACCGTCTGGTTTCCTGACATGATC CGCCATCTCCAGGCAGTGGACTACGCATCCCGCACCAAAGTGTTCCCCGG GGAGCGCGTAGAGCATGTAACTTTTAACTTCACGTTGGAGAATCAGATCC ACCGAGGCGGGCAGTACTTCAATGACAAGTTCATTGGGCTGCGGCTCAAG TCAGTGTCCTTTGAGGATTCCCTGTTTGAAGAGTGTTATTTTGAGGATGT CACATCCAGCAACACGTTTTTCCGCAACTGCACATTCATCAACACTGTGT TCTATAACACTGACCTGTTCGAGTACAAGTTTGTGAACAGCCGTCTGATA AACAGTACATTCCTGCACAACAAGGAGGGCTGCCCGCTAGACGTGACAGG GACGGGCGAAGGTGCCTACATGGTATACTTTGTGAGCTTCCTGGGGACAC TGGCAGTGCTTCCTGGGAATATCGTGTCTGCCCTGCTCATGGACAAGATC GGCAGGCTCAGAATGCTTGCTGGCTCCAGCGTGATGTCCTGTGTCTCCTG CTTCTTCCTGTCTTTTGGGAACAGTGAGTCGGCCATGATCGCTCTGCTCT GCCTTTTTGGCGGGGTCAGCATTGCATCCTGGAATGCGCTGGACGTGTTG ACTGTTGAACTCTACCCCTCAGACAAGAGGACCACAGCTTTTGGCTTCCT GAATGCCCTGTGTAAGCTGGCAGCTGTGCTGGGGATCAGCATCTTCACAT CCTTCGTGGGAATCACCAAGGCTGCACCCATCCTCTTTGCCTCAGCTGCC CTTGCCCTTGGCAGCTCTCTGGCCCTGAAGCTGCCTGAGACCCGGGGGCA GGTGCTGCAGTGAAGGGGTCTCTAGGGCTTTGGGATTGGCAGGCACACTG TGAGACCAACAACTCCTTCCTTCCCCTCCCTGCCCTGCCATCCTGACCTC CAGAGCCCTCACTCCCCACTCCCCGTGTTTGGTGTCTTAGCTGTGTGTGC GTGTGCGTGTGCATGTGTGTAAACCCCGTGGGCAGGGACTACAGGGAAGG CTCCTTCATCCCAGTTTTGAGATGAAGCTGTACTCCCCATTTCCCACTGC CCTTGACTTTGCACAAGAGAAGGCTGAGCCCCATCCTTCTCCCCCTGTTA GAGAGGGGCCCTTGCTTCCCTGTTCCAGGGGTTCCAGAATAGGCTTCCTG CCTTCCCCATCATTCCCTCTGCCTAGGCCCTGGTGAAACCACAGGTATGC AATTATGCTAGGGGCTGGGGCTCTGGTGTAGACCATGGACCAAAAGAACT TCTTAGAGTCTGAAGAGTGGGCCTCGGGTGCCCTCTCACATCTCCTGTTG GATGCTGGGGGAGAAGCAATAAACCTCAGCCCTCTGGCCTCCACTTTCCT CTCAATTTGGGCTGCAAATATGAAGCCTGAATTTTATGAAATTAGCTTTC TGATTCTTATTTATTAATAGATTAAGTTCTGAGGCAGCTCCGCAGGACTG TGTGTGAATGTGTATGTATACTTACATATGTGTGTGCATGTGCCATGGGG CGGGGGGTATCACTATACTGTCCTCAAATATAAGCCAAGGGTAATTTCAG CGGATGCACACACAACCCTGCCTCCCACAGTTCCTCCCCTAATCTGGTTT CTGTGTTGAGCCTGGGATGGAGGAGCCCTAGGCCAGCCTGGGATAAGAGT CCCACAGTCTAGGGAGATCTGAGGGCATCCGACAAGGCCCATCTCCTTCC CTCCTCAAGAAGCAGAGGCCTCCTCTGGAGTGAGAGGCTCCACCCACTAC AGCACAGGCGGGAATAGCACAGCTGCCCTCCCATGCTCCCTACCTGTCCC CTCACAGGGAGGGGAGCAGGGGAGGGAAAGAAACCAGGCATCTGGTCAAA CCAGCAGATCAAAAAGCACAAAGAGCTGGGGCAGAGGCAGGAAGCAGGGG CCCTCCTGGCAGCTCCTCTGAGTGGGGAGAGGTTGGGCAGTGAGTGAGGG ACCCCTAATGCAGGGACTAGAAGCCTCAGTTTCCCCATTTTACCCTTCCA CACAATAGCCTCTGTAGGTTAGGCTGCCCCATCCCACCCTACTCTGTGTG GCTGCTTTCTTTGGTGCCCTCCCCTCACCCCACTGTAGCTGTGACGTGTT GTAGTTTTTAGATGTTTGTAAAATGTTTAAAAAAATGTTAAAAGGAAAAA AGTGAAAATAACAAAAAAGAAAATCAAAATTCACCTTCGTCATGCTGCGT CCAGTGCCCCAACCCTGTGGTCACTCTCCCCATTTTGTAACACTGTACCA GGTGGTGACTGTTTAACTCTTTGGTGTCTGTGCTCAAAAGACTGCCTTCT CCAGTGCCCAGTGTATGAGTGTGTGCCCTGTGCCCTTGTCCCTCACTCCC CACATGCTGGACGTAGCCCTCTTCCTCGCACCCCTGGGAGGGACCCATCC ATCTCCCTTGCTCTCCTGGGGAACCCTAAACCCAACTCTGTTGATGTGAA AAATGCAGTGAAAAATATTGACGAAAAATAAAACGGAAACAAATCCTCAA AAT
Gene structure information
H-Inv cluster ID
HIX0001006
Genomic location
Chromosome
1
Location
1q21.2
Position
149874876- 149889377
Strand
-
Possible duplicated location(s)
NA
Gene structure
13 exon(s)
Database links
RefSeq
NM_014849
;
Ensembl
ENST00000369145
;
ENST00000369146
;
Entrez Gene
Entrez Gene ID:9900
;
KEGG GENES
KEGG GENES(9900)
;
GeneCard
SV2A
;
*GeneCards is provided free to academic non-profit institutions.
Related H-InvDB links
H-DBAS
;
G-integra
;
cDNA-genome alignment
;
Predicted CDS information
HIP ID
HIP000045445
Predicted CDS
435..2663; 742[aa]; Orientation:+3;
Codon Adaptation Index (CAI).
0.8
Database links
RefSeq
NP_055664
;
UniProt
Q7L0J3
;
CCDS
CCDS940
;
MEEGFRDRAAFIRGAKDIAKEVKKHAAKKVVKGLDRVQDEYSRRSYSRFE EEDDDDDFPAPSDGYYRGEGTQDEEEGGASSDATEGHDEDDEIYEGEYQG IPRAESGGKGERMADGAPLAGVRGGLSDGEGPPGGRGEAQRRKEREELAQ QYEAILRECGHGRFQWTLYFVLGLALMADGVEVFVVGFVLPSAEKDMCLS DSNKGMLGLIVYLGMMVGAFLWGGLADRLGRRQCLLISLSVNSVFAFFSS FVQGYGTFLFCRLLSGVGIGGSIPIVFSYFSEFLAQEKRGEHLSWLCMFW MIGGVYAAAMAWAIIPHYGWSFQMGSAYQFHSWRVFVLVCAFPSVFAIGA LTTQPESPRFFLENGKHDEAWMVLKQVHDTNMRAKGHPERVFSVTHIKTI HQEDELIEIQSDTGTWYQRWGVRALSLGGQVWGNFLSCFGPEYRRITLMM MGVWFTMSFSYYGLTVWFPDMIRHLQAVDYASRTKVFPGERVEHVTFNFT LENQIHRGGQYFNDKFIGLRLKSVSFEDSLFEECYFEDVTSSNTFFRNCT FINTVFYNTDLFEYKFVNSRLINSTFLHNKEGCPLDVTGTGEGAYMVYFV SFLGTLAVLPGNIVSALLMDKIGRLRMLAGSSVMSCVSCFFLSFGNSESA MIALLCLFGGVSIASWNALDVLTVELYPSDKRTTAFGFLNALCKLAAVLG ISIFTSFVGITKAAPILFASAALALGSSLALKLPETRGQVLQ*
Motif information
a.a.
length
InterPro
Name
742
IPR022308
Synaptic vesicle protein SV2, chordata [Family]
611
IPR005988
Synaptic vesicle protein SV2 [Family]
335
IPR016196
Major facilitator superfamily, general substrate transporter [Domain]
570
IPR020846
Major facilitator superfamily [Domain]
281
IPR005828
General substrate transporter [Family]
26
IPR005829
Sugar transporter, conserved site [Conserved_site]
152
IPR016196
Major facilitator superfamily, general substrate transporter [Domain]
124
IPR011701
Major facilitator superfamily MFS-1 [Family]
Gene function information
H-Inv ID
HIT000000461
H-Inv cluster ID
HIX0001006
Accession number
AB018279.1
CAGE tag ID
NA
EST ID
NA
Transcript feature
Representative transcript;
Splicing isoform
Coding potential
Protein coding;
Definition
Synaptic vesicle glycoprotein 2A.
Similarity category
Category: Identical to known human protein(Category I).
Identical to known human protein (
NP_055664
) [Identity/coverage = 100.0%/100.0%] to Homo sapiens protein.
Experimental evidence
Protein evidence
PubMed ID
NA
Gene family/group
H-Inv gene family/group ID
HIF0001932
Gene family/group name
Synaptic vesicle protein SV2 (IPR005988).
Evidence motif (InterPro) ID
IPR005988
Gene symbol/name
HGNC symbol
SV2A
HGNC aliases
NA
HGNC name
synaptic vesicle glycoprotein 2A
DDBJ
KIAA0736
UniProt
NA
EC number
NA
GGDB
(GlycoGene Database)
Gene symbol
NA
Familly
NA
Designation
NA
Expression
NA
KEGG metabolic pathway
NA
Protein-protein interaction (PPI)
H-Inv protein ID
HIP000045445
No. of interaction
22
Interaction partner(s)
HIP000014859
;
HIP000025016
;
HIP000025109
;
HIP000031586
;
HIP000036220
;
HIP000036770
;
HIP000037809
;
HIP000043309
;
HIP000047598
;
HIP000049801
;
HIP000065283
;
HIP000067560
;
HIP000088169
;
HIP000092113
;
HIP000094444
;
HIP000096367
;
HIP000096721
;
HIP000101845
;
HIP000102288
;
HIP000112151
;
HIP000435860
;
HIP000436453
;
BIND
178241; 178242; 178243;
DIP
132276E;
MINT
MINT-68560; MINT-68561; MINT-68562; MINT-68563; MINT-68564; MINT-68565; MINT-74487; MINT-74488;
HPRD
00082; 00153; 01281; 03554; 03736; 04472; 05502; 05802; 07958; 10257; 11227; 11485; 11543;
IntAct
EBI-847661; EBI-847631; EBI-783036; EBI-783054; EBI-783025; EBI-696637; EBI-1959084; EBI-782980; EBI-783010; EBI-782988;
Database links
RefSeq
NM_014849
;
Ensembl
ENST00000369145
;
ENST00000369146
;
Entrez Gene
Entrez Gene ID:9900
;
KEGG GENES
KEGG GENES(9900)
;
GeneCard
SV2A
;
*GeneCards is provided free to academic non-profit institutions.
etc
Human-Gene diversity Of Life-style related Diseases
;
Curation status
Human curated
Notes
NA
Related H-InvDB links
Synaptic vesicle protein SV2 (IPR005988).
Similarity Search Tool
;
TACT
;
fRNAdb (The functional RNA database) : overlapping fRNAdb entries with H-InvDB transcripts based on the location of the genome.
NA
Gene ontology information
Molecular function
transporter activity (
GO:0005215
);
Biological process
transport (
GO:0006810
);
Cellular component
integral to membrane (
GO:0016021
); membrane (
GO:0016020
);
Subcellular localization information
Last modified:20-Apr-2012
WoLF PSORT
plasma membrane;
Target P
Other
SOSUI
membrane protein
TMHMM
membrane protein
PTS1
Not targeted
Related H-InvDB links
LIFEdb;
JRE-1.4.0 or later is required.
Download JRE at
Sun's web site.
Protein structure information (GTOP)
Last modified:20-Apr-2012
Start
End
PDB_ID
E-value
Identity
Coverage
SCOP_ID
501
587
2bm4A1
3e-10
11.5
87/180
b.80.8.1
Related H-InvDB links
GTOP
Gene expression information
Last modified:20-Apr-2012
Tissue-specific expression
NA
Probe
information
AceGene
AGhsA241422;
Affymetrix
GeneChip
HG-Focus
NA
HG-U133
NA
HG-U133A
NA
HG-U133A_2
NA
HG-U133B
NA
HG-U133_Plus_2
NA
HG-U95
NA
HG-U95A
NA
HG-U95B
NA
HG-U95C
NA
HG-U95D
NA
HG-U95E
NA
HG-U95Av2
NA
HuEx-1_0
2434140; 2434141; 2434143; 2434145; 2434147; 2434148; 2434149; 2434150; 2434151; 2434152; 2434154; 2434155; 2434156; 2434157;
HuGeneFL
NA
Agilent
Human 1A Oligo Microarray:PGID215
NA
Whole Human Genome Oligo Microarray:PGID247
A_24_P131236;
Related H-InvDB links
H-ANGEL
;
DNAProbeLocator
;
Disease/pathology information
Last modified:20-Apr-2012
Disease relation
Disease name:NA
Related information in OMIM
OMIM ID:NA Title:NA
Co-localized orphan diseases
OMIM ID:
115665
;
116600
;
155600
;
600975
;
605225
;
605606
;
606788
;
606852
;
606928
;
607317
;
607671
;
608543
;
608553
;
608995
;
610320
;
612367
;
612596
;
Disease related mutation
NA
Literature-Extracted GENe-Disease Associations (LEGENDA)
Gene name
Entrez Gene ID:(9900)
Disease
Entrez Gene ID:(9900)
Substance
Entrez Gene ID:(9900)
Related H-InvDB links
DiseaseInfo Viewer
;
LEGENDA
;
Evolutionary information
Last modified:20-Apr-2012
Relationship
Species
Accession number
MGI
Links
Orthology
Macaca sp.
(Macaque)
AB169771
G-integra
Orthology
Mus sp.
(Mouse)
AK080525
MGI:2408387
G-integra
Orthology
Bos sp.
(Cow)
BC123478
G-integra
Orthology
Danio sp.
(Zebrafish)
BC133144
G-integra
Orthology
Tetraodon sp.
(Tetraodon)
CR670677
G-integra
Orthology
Canis sp.
(Dog)
ENSCAFT00000018412
G-integra
Orthology
Monodelphis sp.
(Opossum)
ENSMODT00000023813
G-integra
Orthology
Oryzias sp.
(Medaka)
ENSORLT00000003856
G-integra
Orthology
Oryzias sp.
(Medaka)
ENSORLT00000020400
G-integra
Orthology
Pongo sp.
(Orangutan)
ENSPPYT00000001101
G-integra
Orthology
Tetraodon sp.
(Tetraodon)
GSTENT00017382001
G-integra
Orthology
Tetraodon sp.
(Tetraodon)
GSTENT00019515001
G-integra
Orthology
Rattus sp.
(Rat)
L05435
G-integra
Orthology
Takifugu sp.
(Fugu)
SINFRUT00000127636
G-integra
Orthology
Takifugu sp.
(Fugu)
SINFRUT00000138746
G-integra
Orthology
Pan sp.
(Chimpanzee)
XM_001166824
G-integra
Orthology
Equus sp.
(Horse)
XM_001488584
G-integra
Orthology
Danio sp.
(Zebrafish)
XM_691342
G-integra
Phylogenetic tree [View by
ATV]
Neighbor-joining (phb)
Related H-InvDB links
Evola
;
d
N
/
d
S
(under constraction);
Polymorphism (SNP, indel), microsatellite (Short Tandem Repeat, STR) and repeat information
Single Nucleotide Polymorphism (SNP) and indel
Location
Variation
dbSNP ID
Strand
CDS/UTR
Translation
39 .. 39
G/A
rs12131104
-
5'UTR
96 .. 96
A/C
rs115160215
-
5'UTR
102 .. 102
G/T
rs76103664
-
5'UTR
214 .. 214
C/A
rs74124086
-
5'UTR
244 .. 244
C/T
rs577935
-
5'UTR
325 .. 325
A/T
rs3754045
-
5'UTR
340 .. 340
G/A
rs41264628
-
5'UTR
1105 .. 1105
G/T
rs61807545
-
CDS
Nonsynonymous[Gly224Val]
1427 .. 1427
C/T
rs11542469
+
CDS
Synonymous[His331His]
1764 .. 1764
C/T
rs117711516
-
CDS
Nonsynonymous[Arg444Trp]
1772 .. 1772
C/T
rs73006313
-
CDS
Synonymous[Ile446Ile]
1999 .. 1999
A/G
rs111800602
-
CDS
Nonsynonymous[Lys522Arg]
2192 .. 2192
C/T
rs73006309
-
CDS
Synonymous[Asp586Asp]
2361 .. 2361
T/A
rs1801870
+
CDS
Nonsynonymous[Ser643Thr]
2543 .. 2543
C/T
rs7518476
-
CDS
Synonymous[Ile703Ile]
2564 .. 2564
C/T
rs13067
+
CDS
Synonymous[Ile710Ile]
2859 .. 2859
T/A
rs28642307
-
3'UTR
2967 ^ 2968
-/C
rs35497808
-
3'UTR
2998 .. 2998
C/T
rs41264606
-
3'UTR
3105 .. 3105
A/G
rs7534365
-
3'UTR
3847 .. 3847
T/C
rs78146458
-
3'UTR
3956 .. 3956
T/G
rs113652558
-
3'UTR
3973 .. 3973
A/T
rs61807542
-
3'UTR
4049 .. 4049
G/A
rs41264604
-
3'UTR
4050 ^ 4051
-/A
rs35818770
-
3'UTR
4127 ^ 4128
-/C
rs34296875
-
3'UTR
4228 .. 4228
G/A
rs3820447
+
3'UTR
Microsatellite (Short Tandem Repeat, STR)
No data available
Microsatellite: Human-Gene diversity Of Life-style related Diseases (H-GOLD)
No data available
Repeat
No data available
Database links
Human-Gene diversity Of Life-style related Diseases(H-GOLD)
;
Related H-InvDB links
VaryGene
;
Repeat Mask Viewer
;