H-InvDB_8.3 released on March 26, 2013. Search by Keyword H-Inv ID (HIT) H-Inv cluster ID (HIX) H-Inv protein ID (HIP) H-Inv gene family/group (HIF) Accession number Chromosome number Chromosome band Definition* Data source ID --- CCDS ID dbSNP ID (rs number) EC number Ensembl ID EntrezGene ID FR ID FR Accession number GO ID GO name* HGNC gene symbol HGNC gene name* InterPro ID InterPro name* OMIM ID OMIM title* Pathway ID Pathway name* RefSeq (gene) ID RefSeq (protein) ID SCOP ID UniProt for Advanced Search

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H-Invitational ID: HIT000336350 Accession number: BC100936 Created date: 26-Mar-2013 Last modified: 20-Apr-2012 Definition: Mitochondrial ornithine transporter 2.

		Select format Flat file XML file Nucleotide sequence fasta Protein sequence fasta

Transcript original information Accession number BC100936.1 CAGE tag ID NA EST ID NA Clone Number MGC:119152 IMAGE:40004046 Experimental resources   NBRC ; HGPD ; Antibody (SLC25A2) ; Catalog (SLC25A2); Sequence data provider NA Annotation project NA Length of cDNA 956[bp] (No. of exon:1)[A:230 T:246 G:263 C:217] Devision HUM Molecular type mRNA Library origin Cell type NA Tissue type PCR rescued clones Develpmental stage NA

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) NA Transcript quality feature NA Notes NA

ATGAAGTCCGGTCCTGGCATCCAAGCCGCCATCGACCTCACAGCGGGGGC CGCAGGGGGGACAGCGTGTGTACTGACTGGGCAGCCCTTCGACACAATAA AAGTGAAGATGCAGACGTTCCCTGACCTGTACAAGGGCCTCACCGACTGC TTCCTGAAGACATACGCTCAAGTGGGTCTCCGGGGCTTCTACAAGGGCAC CGGCCCGGCACTTATGGCCTACGTCGCCGAAAACTCGGTCCTCTTCATGT GCTACGGGTTCTGCCAGCAGTTTGTCAGGAAAGTGGCTGGAATGGACAAG CAGGCAAAGCTGAGTGATCTCCAGACTGCAGCCGCGGGGTCCTTCGCCTC TGCATTTGCTGCACTGGCTCTCTGCCCCACTGAGCTTGTGAAGTGCCGGC TACAGACCATGTATGAAATGGAGATGTCAGGGAAGATAGCAAAAAGCCAT AATACAATTTGGTCTGTCGTGAAGGGTATCCTTAAAAAGGATGGCCCCTT GGGCTTCTACCATGGACTCTCGAGTACTCTACTTCAAGAAGTACCGGGTT ATTTCTTTTTCTTTGGTGGCTATGAACTGAGCCGATCGTTTTTTGCGTCA GGGAGATCAAAAGATGAACTAGGCCCTGTCCATTTGATGTTAAGTGGTGG AGTTGCTGGAATTTGCCTGTGGCTTGTCGTGTTCCCAGTGGATTGTATTA AATCCAGAATTCAAGTTCTTTCCATGTATGGGAAACAGGCAGGATTTATT GGTACCCTCTTAAGTGTTGTGAGAAATGAAGGAATAGTAGCCTTATATTC TGGACTGAAAGCTACTATGATTCGAGCAATCCCTGCCAATGGGGCACTGT TTGTGGCCTACGAATACAGCAGGAAGATGATGATGAAACAGTTGGAAGCA TACTGAAGTGTCTTGGTGAACCTGGATCCGAGTCCATGAGTTTGAGGACT ACAGTT

Gene structure information

H-Inv cluster ID		HIX0031997
Genomic location	Chromosome	5
	Location	5q31.3
	Position	140682477- 140683432
	Strand	-
Possible duplicated location(s)		NA
Gene structure		1 exon(s)
Database links	RefSeq	NM_031947;
	Ensembl	ENST00000239451;
	Entrez Gene	Entrez Gene ID:83884;
	KEGG GENES	KEGG GENES(83884);
	GeneCard	SLC25A2;  *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 HIP000069782 Predicted CDS 1..906;  301[aa];  Orientation:+1;  Codon Adaptation Index (CAI). 0.721 Database links RefSeq NP_114153;  UniProt Q9BXI2;  CCDS CCDS4258;

MKSGPGIQAAIDLTAGAAGGTACVLTGQPFDTIKVKMQTFPDLYKGLTDC FLKTYAQVGLRGFYKGTGPALMAYVAENSVLFMCYGFCQQFVRKVAGMDK QAKLSDLQTAAAGSFASAFAALALCPTELVKCRLQTMYEMEMSGKIAKSH NTIWSVVKGILKKDGPLGFYHGLSSTLLQEVPGYFFFFGGYELSRSFFAS GRSKDELGPVHLMLSGGVAGICLWLVVFPVDCIKSRIQVLSMYGKQAGFI GTLLSVVRNEGIVALYSGLKATMIRAIPANGALFVAYEYSRKMMMKQLEA Y*

Motif information

	a.a. length	InterPro	Name
	286	IPR001993	Mitochondrial substrate carrier [Family]
	85	IPR018108	Mitochondrial substrate/solute carrier [Repeat]
	294	IPR001993	Mitochondrial substrate carrier [Family]
	85	IPR018108	Mitochondrial substrate/solute carrier [Repeat]
	94	IPR018108	Mitochondrial substrate/solute carrier [Repeat]
	93	IPR018108	Mitochondrial substrate/solute carrier [Repeat]
	92	IPR018108	Mitochondrial substrate/solute carrier [Repeat]
	87	IPR018108	Mitochondrial substrate/solute carrier [Repeat]

Gene function information

H-Inv ID		HIT000336350
H-Inv cluster ID		HIX0031997
Accession number		BC100936.1
CAGE tag ID		NA
EST ID		NA
Transcript feature		NO;
Coding potential		Protein coding;
Definition		Mitochondrial ornithine transporter 2.
Similarity category		Category: Identical to known human protein(Category I).
		Identical to known human protein (NP_114153)  [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	HIF0000021
	Gene family/group name	Putative Mitochondrial substrate carrier (IPR001993).
	Evidence motif (InterPro) ID	IPR001993
Gene symbol/name	HGNC symbol	SLC25A2
	HGNC aliases	NA
	HGNC name	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2
	DDBJ	SLC25A2
	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	HIP000069782
	No. of interaction	22
	Interaction partner(s)	HIP000034130;  HIP000034709;  HIP000046840;  HIP000071011;  HIP000085125;  HIP000085125;  HIP000087949;  HIP000088916;  HIP000095929;  HIP000098568;  HIP000102384;  HIP000111022;  HIP000114715;  HIP000146054;  HIP000148859;  HIP000163436;  HIP000163436;  HIP000181513;  HIP000258560;  HIP000336703;  HIP000336703;  HIP000339211;
	BIND	NA
	DIP	50758E;  50759E;  50760E;  50761E;  50763E;  50764E;  50765E;  50767E;  50768E;  50769E;  50770E;  50771E;  50774E;  50775E;  50778E;  99489E;  99490E;
	MINT	NA
	HPRD	05889;  09440;  12179;  12692;
	IntAct	EBI-882652;  EBI-1143317;  EBI-1141484;
Database links	RefSeq	NM_031947;
	Ensembl	ENST00000239451;
	Entrez Gene	Entrez Gene ID:83884;
	KEGG GENES	KEGG GENES(83884);
	GeneCard	SLC25A2;  *GeneCards is provided free to academic non-profit institutions.
	etc	Human-Gene diversity Of Life-style related Diseases;
Curation status		Auto-annotated
Notes		NA
Related H-InvDB links		Putative Mitochondrial substrate carrier (IPR001993). 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	binding (GO:0005488);
Biological process	transport (GO:0006810);
Cellular component	membrane (GO:0016020);

Subcellular localization information

Last modified:20-Apr-2012

WoLF PSORT	cytosol;  extracellular;  mitochondria;  plasma membrane;  Other;
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 7 198 1okcA 1e-29 17.5 219/292 f.42.1.1 259 289 1okcA 1e-29 17.5 219/292 f.42.1.1

Related H-InvDB links GTOP

Gene expression information

Last modified:20-Apr-2012

Tissue-specific expression			placenta/testis/ovary;
Probe information	AceGene		NA
	Affymetrix GeneChip	HG-Focus	NA
		HG-U133	224166_at;
		HG-U133A	NA
		HG-U133A_2	NA
		HG-U133B	224166_at;
		HG-U133_Plus_2	224166_at;
		HG-U95	57269_at;
		HG-U95A	NA
		HG-U95B	57269_at;
		HG-U95C	NA
		HG-U95D	NA
		HG-U95E	NA
		HG-U95Av2	NA
		HuEx-1_0	2878632;  2878633;
		HuGeneFL	NA
	Agilent	Human 1A Oligo Microarray:PGID215	NA
		Whole Human Genome Oligo Microarray:PGID247	NA
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:  601888;  608850;  611091;  612554;  612571;
Disease related mutation		NA
Literature-Extracted GENe-Disease Associations (LEGENDA)	Gene name	Entrez Gene ID:(83884)
	Disease	Entrez Gene ID:(83884)
	Substance	Entrez Gene ID:(83884)
Related H-InvDB links		DiseaseInfo Viewer;  LEGENDA;

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 168 .. 168 T/C rs11952797 - CDS Synonymous[Ala56Ala] 191 .. 191 A/G rs115876844 - CDS Nonsynonymous[Tyr64Cys] 291 .. 291 A/G rs79139730 - CDS Synonymous[Gly97Gly] 440 .. 440 C/T rs34663948 + CDS Nonsynonymous[Ala147Val] 475 .. 475 G/T rs10075302 - CDS Nonsynonymous[Gly159Cys] 542 .. 542 T/G rs3749779 + CDS Nonsynonymous[Val181Gly] 676 .. 676 G/A/T rs3749780 + CDS 759 .. 759 C/T rs3749781 + CDS Synonymous[Leu253Leu]  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;