SLC25A25 (solute carrier family 25 member 25) - Rat Genome Database

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Gene: SLC25A25 (solute carrier family 25 member 25) Homo sapiens
Analyze
Symbol: SLC25A25
Name: solute carrier family 25 member 25
RGD ID: 1351086
HGNC Page HGNC:20663
Description: Enables ATP:phosphate antiporter activity. Predicted to be involved in ADP transport and ATP transport. Predicted to act upstream of or within several processes, including response to activity; response to dietary excess; and response to food. Located in mitochondrion.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: calcium-binding mitochondrial carrier protein SCaMC-2; KIAA1896; MCSC; MGC105138; MGC119514; MGC119515; MGC119516; MGC119517; mitochondrial adenyl nucleotide antiporter SLC25A25; mitochondrial ATP-Mg/Pi carrier protein 3; mitochondrial Ca(2+)-dependent solute carrier protein 3; mitochondrial Ca2+-dependent solute carrier; PCSCL; RP11-395P17.4; SCAMC-2; SCAMC2; short calcium-binding mitochondrial carrier 2; short calcium-binding mitochondrial carrier protein 2; small calcium-binding mitochondrial carrier 2; small calcium-binding mitochondrial carrier protein 2; solute carrier family 25 (mitochondrial carrier, phosphate carrier), member 25; solute carrier family 25, member 25, isoform a
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389128,068,232 - 128,109,245 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9128,068,201 - 128,109,245 (+)EnsemblGRCh38hg38GRCh38
GRCh379130,830,511 - 130,871,524 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,870,300 - 129,911,345 (+)NCBINCBI36Build 36hg18NCBI36
Build 349127,940,370 - 127,951,078NCBI
Celera9101,482,501 - 101,523,452 (+)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9100,445,708 - 100,486,206 (+)NCBIHuRef
CHM1_19130,982,710 - 131,023,583 (+)NCBICHM1_1
T2T-CHM13v2.09140,276,208 - 140,317,210 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',4,5'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
acrylamide  (EXP)
aflatoxin B1  (EXP,ISO)
alpha-pinene  (EXP)
amiodarone  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
bromobenzene  (ISO)
cadmium dichloride  (ISO)
cadmium sulfate  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
ciguatoxin CTX1B  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
corn oil  (ISO)
cyclosporin A  (EXP,ISO)
cylindrospermopsin  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dioxygen  (ISO)
diquat  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fluoranthene  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
furan  (ISO)
gentamycin  (ISO)
indole-3-methanol  (ISO)
inulin  (ISO)
L-methionine  (ISO)
leflunomide  (EXP)
Licochalcone B  (EXP)
mercury dichloride  (ISO)
methamphetamine  (ISO)
methimazole  (ISO)
methylmercury chloride  (EXP)
monosodium L-glutamate  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
okadaic acid  (EXP)
organophosphorus compound  (ISO)
ozone  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phorone  (ISO)
pirinixic acid  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
rac-lactic acid  (EXP)
sevoflurane  (ISO)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
Soman  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (ISO)
teriflunomide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
triadimefon  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
troglitazone  (ISO)
urethane  (EXP)
valdecoxib  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Dystonia  (IAGP)
High myopia  (IAGP)
Nephrolithiasis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:11572484   PMID:12107411   PMID:12477932   PMID:12645546   PMID:12975309   PMID:15054102   PMID:15123600   PMID:16344560   PMID:20583170   PMID:20877624   PMID:21873635  
PMID:22658674   PMID:23266187   PMID:23376485   PMID:24453475   PMID:26496610   PMID:28514442   PMID:29568061   PMID:30021884   PMID:30076902   PMID:31617661   PMID:32877691   PMID:33961781  
PMID:34079125   PMID:34346195   PMID:34800366   PMID:35256949   PMID:35509820   PMID:36215168   PMID:36538041   PMID:36736316   PMID:37314216  


Genomics

Comparative Map Data
SLC25A25
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh389128,068,232 - 128,109,245 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl9128,068,201 - 128,109,245 (+)EnsemblGRCh38hg38GRCh38
GRCh379130,830,511 - 130,871,524 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 369129,870,300 - 129,911,345 (+)NCBINCBI36Build 36hg18NCBI36
Build 349127,940,370 - 127,951,078NCBI
Celera9101,482,501 - 101,523,452 (+)NCBICelera
Cytogenetic Map9q34.11NCBI
HuRef9100,445,708 - 100,486,206 (+)NCBIHuRef
CHM1_19130,982,710 - 131,023,583 (+)NCBICHM1_1
T2T-CHM13v2.09140,276,208 - 140,317,210 (+)NCBIT2T-CHM13v2.0
Slc25a25
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39232,304,499 - 32,341,482 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl232,304,499 - 32,341,457 (-)EnsemblGRCm39 Ensembl
GRCm38232,414,487 - 32,451,470 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl232,414,487 - 32,451,445 (-)EnsemblGRCm38mm10GRCm38
MGSCv37232,270,007 - 32,306,990 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36232,236,489 - 32,273,431 (-)NCBIMGSCv36mm8
Celera232,120,151 - 32,157,130 (-)NCBICelera
Cytogenetic Map2BNCBI
cM Map222.09NCBI
Slc25a25
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8336,106,448 - 36,139,812 (-)NCBIGRCr8
mRatBN7.2315,708,702 - 15,742,195 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl315,708,703 - 15,742,216 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx318,777,546 - 18,787,673 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0327,362,543 - 27,372,674 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0325,613,291 - 25,623,413 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0311,442,396 - 11,476,186 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl311,442,397 - 11,452,529 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0316,791,266 - 16,825,049 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4311,539,415 - 11,549,538 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1311,435,787 - 11,445,910 (-)NCBI
Celera310,451,575 - 10,461,792 (-)NCBICelera
Cytogenetic Map3p11NCBI
Slc25a25
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955419618,979 - 656,189 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955419621,445 - 656,172 (-)NCBIChiLan1.0ChiLan1.0
SLC25A25
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21111,243,799 - 11,284,673 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1911,246,147 - 11,287,021 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0999,188,906 - 99,229,771 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.19127,859,948 - 127,900,922 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl9127,859,948 - 127,900,922 (+)Ensemblpanpan1.1panPan2
SLC25A25
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1955,358,348 - 55,394,624 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl955,360,043 - 55,394,519 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha954,553,071 - 54,588,912 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0956,285,169 - 56,316,835 (-)NCBIROS_Cfam_1.0
UMICH_Zoey_3.1955,040,512 - 55,076,587 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0955,355,242 - 55,391,319 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0955,446,944 - 55,482,811 (-)NCBIUU_Cfam_GSD_1.0
Slc25a25
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947195,892,611 - 195,927,737 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648715,661,079 - 15,696,406 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648715,661,133 - 15,696,267 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC25A25
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1268,531,752 - 268,576,994 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11268,531,752 - 268,575,195 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21302,558,673 - 302,565,658 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Sscrofa10.21302,453,222 - 302,453,476 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SLC25A25
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11210,017,775 - 10,059,013 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1210,017,755 - 10,035,476 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660796,165,921 - 6,208,553 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc25a25
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247607,515,764 - 7,550,810 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247607,516,910 - 7,550,897 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SLC25A25
27 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3 copy number gain See cases [RCV000051009] Chr9:121112395..138075224 [GRCh38]
Chr9:123874673..140969676 [GRCh37]
Chr9:122914494..140089497 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3 copy number gain See cases [RCV000051040] Chr9:122792658..138124532 [GRCh38]
Chr9:125554937..141018984 [GRCh37]
Chr9:124594758..140138805 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1 copy number loss See cases [RCV000052934] Chr9:127874581..130421811 [GRCh38]
Chr9:130636860..133297198 [GRCh37]
Chr9:129676681..132287019 [NCBI36]
Chr9:9q34.11		 pathogenic
GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3 copy number gain See cases [RCV000053777] Chr9:127919476..130079974 [GRCh38]
Chr9:130681755..132842253 [GRCh37]
Chr9:129721576..131882074 [NCBI36]
Chr9:9q34.11		 pathogenic
NM_197956.3(NAIF1):c.601C>T (p.Pro201Ser) single nucleotide variant Malignant melanoma [RCV000068550] Chr9:128063811 [GRCh38]
Chr9:130826090 [GRCh37]
Chr9:129865911 [NCBI36]
Chr9:9q34.11		 not provided
GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1 copy number loss See cases [RCV000052923] Chr9:125993583..129682375 [GRCh38]
Chr9:128755862..132444654 [GRCh37]
Chr9:127795683..131484475 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.2-34.3(chr9:121586837-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053776]|See cases [RCV000053776] Chr9:121586837..138179445 [GRCh38]
Chr9:124349116..141073897 [GRCh37]
Chr9:123388937..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1 copy number loss See cases [RCV000137787] Chr9:125055865..128637946 [GRCh38]
Chr9:127818144..131400225 [GRCh37]
Chr9:126857965..130440046 [NCBI36]
Chr9:9q33.3-34.11		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)x1 copy number loss See cases [RCV000447376] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3 copy number gain See cases [RCV000447080] Chr9:128652785..141044751 [GRCh37]
Chr9:9q33.3-34.3		 pathogenic
GRCh37/hg19 9q34.11(chr9:130390139-132760275)x1 copy number loss See cases [RCV000445837] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3 copy number gain See cases [RCV000448784] Chr9:124642754..141146461 [GRCh37]
Chr9:9q33.2-34.3		 pathogenic
NM_001330988.2(SLC25A25):c.644A>G (p.Asn215Ser) single nucleotide variant not specified [RCV004314952] Chr9:128103700 [GRCh38]
Chr9:130865979 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928) copy number gain Global developmental delay [RCV000626548] Chr9:71069743..140999928 [GRCh37]
Chr9:9q21.11-34.3		 likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q33.3-34.12(chr9:129370440-133866894)x1 copy number loss not provided [RCV000748671] Chr9:129370440..133866894 [GRCh37]
Chr9:9q33.3-34.12		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:129522693-131410039)x1 copy number loss not provided [RCV000748677] Chr9:129522693..131410039 [GRCh37]
Chr9:9q33.3-34.11		 benign
GRCh37/hg19 9q34.11(chr9:130829564-130861039)x1 copy number loss not provided [RCV000748690] Chr9:130829564..130861039 [GRCh37]
Chr9:9q34.11		 benign
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NM_001330988.2(SLC25A25):c.1383G>A (p.Pro461=) single nucleotide variant not provided [RCV000882715] Chr9:128107279 [GRCh38]
Chr9:130869558 [GRCh37]
Chr9:9q34.11		 benign
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV000821291] Chr9:127454518..128190872 [GRCh38]
Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.481C>T (p.Arg161Ter) single nucleotide variant High myopia [RCV000785723] Chr9:128102084 [GRCh38]
Chr9:130864363 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.12:g.(?_127612384)_(128566997_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV000819894]|Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [RCV001387712] Chr9:127612384..128566997 [GRCh38]
Chr9:130374663..131329276 [GRCh37]
Chr9:9q34.11		 pathogenic|uncertain significance
NC_000009.12:g.(?_127815672)_(128541180_?)del deletion not provided [RCV001032461] Chr9:130577951..131303459 [GRCh37]
Chr9:9q34.11		 pathogenic
GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1 copy number loss Infantile epilepsy syndrome [RCV001265154] Chr9:130412438..131423964 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001330988.2(SLC25A25):c.1083G>C (p.Gln361His) single nucleotide variant Nephrolithiasis [RCV001280533] Chr9:128106391 [GRCh38]
Chr9:130868670 [GRCh37]
Chr9:9q34.11		 pathogenic
NC_000009.11:g.(?_129376729)_(131016993_?)del deletion Developmental and epileptic encephalopathy, 31A [RCV001364955]|Early infantile epileptic encephalopathy with suppression bursts [RCV001383155] Chr9:129376729..131016993 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic|uncertain significance|no classifications from unflagged records
NC_000009.11:g.(?_130216797)_(130953151_?)dup duplication Congenital disorder of glycosylation type 1u [RCV001323033] Chr9:130216797..130953151 [GRCh37]
Chr9:9q33.3-34.11		 uncertain significance
NC_000009.11:g.(?_130374663)_(131329276_?)del deletion Early infantile epileptic encephalopathy with suppression bursts [RCV001304269] Chr9:130374663..131329276 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795) copy number loss not specified [RCV002052846] Chr9:129079208..130851795 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9q32-34.11(chr9:116422275-131713233) copy number gain not specified [RCV002052831] Chr9:116422275..131713233 [GRCh37]
Chr9:9q32-34.11		 pathogenic
GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3 copy number gain not provided [RCV001832977] Chr9:128523763..132604808 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
NC_000009.11:g.(?_130216807)_(130953136_?)del deletion Congenital muscular dystrophy with intellectual disability and severe epilepsy [RCV001972646] Chr9:130216807..130953136 [GRCh37]
Chr9:9q33.3-34.11		 pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11		 pathogenic
NM_001330988.2(SLC25A25):c.1133T>G (p.Val378Gly) single nucleotide variant not specified [RCV004299213] Chr9:128106441 [GRCh38]
Chr9:130868720 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.1357G>A (p.Ala453Thr) single nucleotide variant not specified [RCV004087896] Chr9:128107173 [GRCh38]
Chr9:130869452 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.884A>G (p.Asn295Ser) single nucleotide variant not specified [RCV004222057] Chr9:128105829 [GRCh38]
Chr9:130868108 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.188G>A (p.Gly63Asp) single nucleotide variant not specified [RCV004083102] Chr9:128068507 [GRCh38]
Chr9:130830786 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.412A>T (p.Met138Leu) single nucleotide variant not specified [RCV004127465] Chr9:128101332 [GRCh38]
Chr9:130863611 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.944G>A (p.Arg315His) single nucleotide variant not specified [RCV004108824] Chr9:128106157 [GRCh38]
Chr9:130868436 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.982G>A (p.Glu328Lys) single nucleotide variant not specified [RCV004090478] Chr9:128106195 [GRCh38]
Chr9:130868474 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.1129G>C (p.Gly377Arg) single nucleotide variant not specified [RCV004265275] Chr9:128106437 [GRCh38]
Chr9:130868716 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.353G>A (p.Arg118Lys) single nucleotide variant not specified [RCV004340623] Chr9:128101187 [GRCh38]
Chr9:130863466 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.515T>C (p.Met172Thr) single nucleotide variant not specified [RCV004340691] Chr9:128102372 [GRCh38]
Chr9:130864651 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh37/hg19 9q34.11(chr9:130782849-130840430)x1 copy number loss not provided [RCV003483081] Chr9:130782849..130840430 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.1541C>T (p.Ser514Leu) single nucleotide variant not specified [RCV004456470] Chr9:128107437 [GRCh38]
Chr9:130869716 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.796C>T (p.Arg266Cys) single nucleotide variant not specified [RCV004456472] Chr9:128105741 [GRCh38]
Chr9:130868020 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.868C>T (p.Arg290Trp) single nucleotide variant not specified [RCV004456473] Chr9:128105813 [GRCh38]
Chr9:130868092 [GRCh37]
Chr9:9q34.11		 uncertain significance
NC_000009.11:g.(?_130216807)_(133557056_?)dup duplication Dystonic disorder [RCV004581825] Chr9:130216807..133557056 [GRCh37]
Chr9:9q33.3-34.12		 uncertain significance
NC_000009.11:g.(?_130374683)_(131329276_?)del deletion Developmental and epileptic encephalopathy, 31A [RCV004581887]|Early infantile epileptic encephalopathy with suppression bursts [RCV004581888] Chr9:130374683..131329276 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001330988.2(SLC25A25):c.875A>G (p.Asn292Ser) single nucleotide variant not specified [RCV004859860] Chr9:128105820 [GRCh38]
Chr9:130868099 [GRCh37]
Chr9:9q34.11		 uncertain significance
GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3 copy number gain See cases [RCV000134920] Chr9:121073102..138179445 [GRCh38]
Chr9:123835380..141073897 [GRCh37]
Chr9:122875201..140193718 [NCBI36]
Chr9:9q33.2-34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3 copy number gain not provided [RCV000847808] Chr9:71416475..141020389 [GRCh37]
Chr9:9q21.11-34.3		 pathogenic
NM_001330988.2(SLC25A25):c.1377C>T (p.Gly459=) single nucleotide variant not provided [RCV000908092] Chr9:128107273 [GRCh38]
Chr9:130869552 [GRCh37]
Chr9:9q34.11		 likely benign
GRCh37/hg19 9q34.11(chr9:130390139-132760275) copy number loss not specified [RCV002052848] Chr9:130390139..132760275 [GRCh37]
Chr9:9q34.11		 pathogenic
NM_001330988.2(SLC25A25):c.580G>A (p.Val194Met) single nucleotide variant not specified [RCV004672315] Chr9:128102437 [GRCh38]
Chr9:130864716 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.1058G>A (p.Arg353Gln) single nucleotide variant not specified [RCV004672316] Chr9:128106366 [GRCh38]
Chr9:130868645 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.686C>T (p.Thr229Met) single nucleotide variant not specified [RCV004672317] Chr9:128103742 [GRCh38]
Chr9:130866021 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.1264G>A (p.Gly422Ser) single nucleotide variant not specified [RCV004859858] Chr9:128107080 [GRCh38]
Chr9:130869359 [GRCh37]
Chr9:9q34.11		 uncertain significance
NM_001330988.2(SLC25A25):c.830C>T (p.Thr277Ile) single nucleotide variant not specified [RCV004859859] Chr9:128105775 [GRCh38]
Chr9:130868054 [GRCh37]
Chr9:9q34.11		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:8921
Count of miRNA genes:914
Interacting mature miRNAs:1078
Transcripts:ENST00000373064, ENST00000373066, ENST00000373068, ENST00000373069, ENST00000432073, ENST00000433501, ENST00000445012, ENST00000466983, ENST00000472769
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597193320GWAS1289394_Hlanguage measurement QTL GWAS1289394 (human)0.000003language measurement9128075787128075788Human
597321234GWAS1417308_HSphingomyelin (d18:2/24:1, d18:1/24:2) measurement QTL GWAS1417308 (human)4e-08Sphingomyelin (d18:2/24:1, d18:1/24:2) measurement9128092536128092537Human
597123930GWAS1220004_Hblood protein measurement QTL GWAS1220004 (human)8e-12blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)9128072671128072672Human

Markers in Region
D9S1755  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,871,359 - 130,871,501UniSTSGRCh37
Build 369129,911,180 - 129,911,322RGDNCBI36
Celera9101,523,287 - 101,523,429RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,486,028 - 100,486,170UniSTS
SHGC-31024  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,854,976 - 130,855,125UniSTSGRCh37
Build 369129,894,797 - 129,894,946RGDNCBI36
Celera9101,506,904 - 101,507,053RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,470,078 - 100,470,227UniSTS
GeneMap99-GB4 RH Map9391.04UniSTS
Whitehead-RH Map9472.3UniSTS
RH68473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,870,606 - 130,870,767UniSTSGRCh37
Build 369129,910,427 - 129,910,588RGDNCBI36
Celera9101,522,534 - 101,522,695RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,485,275 - 100,485,436UniSTS
GeneMap99-GB4 RH Map9389.68UniSTS
RH68655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,870,968 - 130,871,103UniSTSGRCh37
Build 369129,910,789 - 129,910,924RGDNCBI36
Celera9101,522,896 - 101,523,031RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,485,637 - 100,485,772UniSTS
GeneMap99-GB4 RH Map9389.16UniSTS
SHGC-34993  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,870,896 - 130,871,022UniSTSGRCh37
Build 369129,910,717 - 129,910,843RGDNCBI36
Celera9101,522,824 - 101,522,950RGD
Cytogenetic Map9q34.11UniSTS
HuRef9100,485,565 - 100,485,691UniSTS
GeneMap99-GB4 RH Map9389.68UniSTS
Whitehead-RH Map9472.6UniSTS
MARC_17155-17156:1021053900:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh379130,868,724 - 130,869,403UniSTSGRCh37
Build 369129,908,545 - 129,909,224RGDNCBI36
Celera9101,520,652 - 101,521,331RGD
HuRef9100,483,812 - 100,484,491UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2252 4972 1726 2351 5 623 1948 465 2269 7301 6469 53 3733 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001006641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001006642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001265614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001387057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_049766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB067483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ619963 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ619989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ619990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ619991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ619992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL360268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL559911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590708 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC061925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC089448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC103933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM689843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ637100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX642627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA219774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA713306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000373064   ⟹   ENSP00000362155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,098,304 - 128,109,245 (+)Ensembl
Ensembl Acc Id: ENST00000373066   ⟹   ENSP00000362157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,091,464 - 128,109,245 (+)Ensembl
Ensembl Acc Id: ENST00000373068   ⟹   ENSP00000362159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,068,201 - 128,109,244 (+)Ensembl
Ensembl Acc Id: ENST00000373069   ⟹   ENSP00000362160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,068,232 - 128,109,245 (+)Ensembl
Ensembl Acc Id: ENST00000432073   ⟹   ENSP00000410053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,091,464 - 128,109,245 (+)Ensembl
Ensembl Acc Id: ENST00000445012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,100,867 - 128,103,837 (+)Ensembl
Ensembl Acc Id: ENST00000466983   ⟹   ENSP00000418600
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,103,722 - 128,107,647 (+)Ensembl
Ensembl Acc Id: ENST00000472769   ⟹   ENSP00000419685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,098,537 - 128,103,729 (+)Ensembl
Ensembl Acc Id: ENST00000682371   ⟹   ENSP00000508277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,091,464 - 128,109,232 (+)Ensembl
Ensembl Acc Id: ENST00000682638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,091,586 - 128,109,055 (+)Ensembl
Ensembl Acc Id: ENST00000683206   ⟹   ENSP00000506909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,099,072 - 128,109,232 (+)Ensembl
Ensembl Acc Id: ENST00000684304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl9128,098,542 - 128,101,555 (+)Ensembl
RefSeq Acc Id: NM_001006641   ⟹   NP_001006642
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,068,232 - 128,109,245 (+)NCBI
GRCh379130,830,479 - 130,871,537 (+)NCBI
Build 369129,870,300 - 129,911,345 (+)NCBI Archive
Celera9101,482,501 - 101,523,452 (+)RGD
HuRef9100,445,708 - 100,486,206 (+)NCBI
CHM1_19130,982,710 - 131,023,583 (+)NCBI
T2T-CHM13v2.09140,276,208 - 140,317,210 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001006642   ⟹   NP_001006643
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,091,455 - 128,109,245 (+)NCBI
GRCh379130,830,479 - 130,871,537 (+)NCBI
Build 369129,893,949 - 129,911,345 (+)NCBI Archive
Celera9101,482,501 - 101,523,452 (+)RGD
HuRef9100,445,708 - 100,486,206 (+)NCBI
CHM1_19131,005,788 - 131,023,583 (+)NCBI
T2T-CHM13v2.09140,299,426 - 140,317,210 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001265614   ⟹   NP_001252543
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,091,455 - 128,109,245 (+)NCBI
GRCh379130,830,479 - 130,871,537 (+)NCBI
HuRef9100,445,708 - 100,486,206 (+)NCBI
CHM1_19131,005,788 - 131,023,583 (+)NCBI
T2T-CHM13v2.09140,299,426 - 140,317,210 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001330988   ⟹   NP_001317917
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,068,232 - 128,109,245 (+)NCBI
T2T-CHM13v2.09140,276,208 - 140,317,210 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001387057   ⟹   NP_001373986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,098,507 - 128,109,245 (+)NCBI
T2T-CHM13v2.09140,306,479 - 140,317,210 (+)NCBI
Sequence:
RefSeq Acc Id: NM_052901   ⟹   NP_443133
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,098,507 - 128,109,245 (+)NCBI
GRCh379130,830,479 - 130,871,537 (+)NCBI
Build 369129,900,638 - 129,911,345 (+)NCBI Archive
Celera9101,482,501 - 101,523,452 (+)RGD
HuRef9100,445,708 - 100,486,206 (+)NCBI
CHM1_19131,012,807 - 131,023,583 (+)NCBI
T2T-CHM13v2.09140,306,479 - 140,317,210 (+)NCBI
Sequence:
RefSeq Acc Id: NR_049766
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,098,507 - 128,109,245 (+)NCBI
GRCh379130,830,479 - 130,871,537 (+)NCBI
HuRef9100,445,708 - 100,486,206 (+)NCBI
CHM1_19131,012,807 - 131,023,583 (+)NCBI
T2T-CHM13v2.09140,306,479 - 140,317,210 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001006642 (Get FASTA)   NCBI Sequence Viewer  
  NP_001006643 (Get FASTA)   NCBI Sequence Viewer  
  NP_001252543 (Get FASTA)   NCBI Sequence Viewer  
  NP_001317917 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373986 (Get FASTA)   NCBI Sequence Viewer  
  NP_443133 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH05163 (Get FASTA)   NCBI Sequence Viewer  
  AAH89448 (Get FASTA)   NCBI Sequence Viewer  
  AAI03931 (Get FASTA)   NCBI Sequence Viewer  
  AAI03932 (Get FASTA)   NCBI Sequence Viewer  
  AAI03933 (Get FASTA)   NCBI Sequence Viewer  
  AAI03934 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88879 (Get FASTA)   NCBI Sequence Viewer  
  BAB67789 (Get FASTA)   NCBI Sequence Viewer  
  BAF83394 (Get FASTA)   NCBI Sequence Viewer  
  BAF83680 (Get FASTA)   NCBI Sequence Viewer  
  CAF04060 (Get FASTA)   NCBI Sequence Viewer  
  CAF04495 (Get FASTA)   NCBI Sequence Viewer  
  CAF04496 (Get FASTA)   NCBI Sequence Viewer  
  CAF04497 (Get FASTA)   NCBI Sequence Viewer  
  CAF04498 (Get FASTA)   NCBI Sequence Viewer  
  EAW87738 (Get FASTA)   NCBI Sequence Viewer  
  EAW87739 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000362155
  ENSP00000362155.5
  ENSP00000362157
  ENSP00000362157.5
  ENSP00000362159
  ENSP00000362159.2
  ENSP00000362160
  ENSP00000362160.5
  ENSP00000410053
  ENSP00000410053.2
GenBank Protein Q6KCM7 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001006642   ⟸   NM_001006641
- Peptide Label: isoform b
- UniProtKB: Q6KCM7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001006643   ⟸   NM_001006642
- Peptide Label: isoform c precursor
- UniProtKB: A0A804HLB0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_443133   ⟸   NM_052901
- Peptide Label: isoform a
- UniProtKB: Q96PZ1 (UniProtKB/Swiss-Prot),   Q705K2 (UniProtKB/Swiss-Prot),   Q6UX48 (UniProtKB/Swiss-Prot),   Q6KCM6 (UniProtKB/Swiss-Prot),   Q6KCM4 (UniProtKB/Swiss-Prot),   Q5VWU4 (UniProtKB/Swiss-Prot),   Q5VWU3 (UniProtKB/Swiss-Prot),   Q5VWU2 (UniProtKB/Swiss-Prot),   Q5SYX3 (UniProtKB/Swiss-Prot),   Q5SYW8 (UniProtKB/Swiss-Prot),   Q5SYW7 (UniProtKB/Swiss-Prot),   Q9BSA6 (UniProtKB/Swiss-Prot),   Q6KCM7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001252543   ⟸   NM_001265614
- Peptide Label: isoform 5 precursor
- UniProtKB: A0A804HLB0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001317917   ⟸   NM_001330988
- Peptide Label: isoform e
- UniProtKB: Q6KCM7 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000362155   ⟸   ENST00000373064
Ensembl Acc Id: ENSP00000362157   ⟸   ENST00000373066
Ensembl Acc Id: ENSP00000362159   ⟸   ENST00000373068
Ensembl Acc Id: ENSP00000362160   ⟸   ENST00000373069
Ensembl Acc Id: ENSP00000418600   ⟸   ENST00000466983
Ensembl Acc Id: ENSP00000410053   ⟸   ENST00000432073
Ensembl Acc Id: ENSP00000419685   ⟸   ENST00000472769
RefSeq Acc Id: NP_001373986   ⟸   NM_001387057
- Peptide Label: isoform f
Ensembl Acc Id: ENSP00000508277   ⟸   ENST00000682371
Ensembl Acc Id: ENSP00000506909   ⟸   ENST00000683206
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6KCM7-F1-model_v2 AlphaFold Q6KCM7 1-469 view protein structure

Promoters
RGD ID:7216241
Promoter ID:EPDNEW_H13866
Type:initiation region
Name:SLC25A25_1
Description:solute carrier family 25 member 25
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13867  EPDNEW_H13868  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,068,234 - 128,068,294EPDNEW
RGD ID:7216243
Promoter ID:EPDNEW_H13867
Type:initiation region
Name:SLC25A25_2
Description:solute carrier family 25 member 25
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13866  EPDNEW_H13868  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,091,455 - 128,091,515EPDNEW
RGD ID:7216245
Promoter ID:EPDNEW_H13868
Type:initiation region
Name:SLC25A25_3
Description:solute carrier family 25 member 25
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13866  EPDNEW_H13867  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh389128,098,541 - 128,098,601EPDNEW
RGD ID:6808229
Promoter ID:HG_KWN:65091
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001006641,   OTTHUMT00000054408,   OTTHUMT00000054409
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,869,451 - 129,870,457 (+)MPROMDB
RGD ID:6808232
Promoter ID:HG_KWN:65092
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_001006642,   OTTHUMT00000054406
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,893,161 - 129,893,661 (+)MPROMDB
RGD ID:6808231
Promoter ID:HG_KWN:65094
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   NB4
Transcripts:NM_001006643,   OTTHUMT00000054407
Position:
Human AssemblyChrPosition (strand)Source
Build 369129,899,886 - 129,900,657 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20663 AgrOrtholog
COSMIC SLC25A25 COSMIC
Ensembl Genes ENSG00000148339 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000373064 ENTREZGENE
  ENST00000373064.9 UniProtKB/Swiss-Prot
  ENST00000373066 ENTREZGENE
  ENST00000373066.9 UniProtKB/Swiss-Prot
  ENST00000373068 ENTREZGENE
  ENST00000373068.6 UniProtKB/Swiss-Prot
  ENST00000373069 ENTREZGENE
  ENST00000373069.10 UniProtKB/Swiss-Prot
  ENST00000432073 ENTREZGENE
  ENST00000432073.6 UniProtKB/Swiss-Prot
  ENST00000683206 ENTREZGENE
Gene3D-CATH 1.50.40.10 UniProtKB/Swiss-Prot
  EF-hand UniProtKB/Swiss-Prot
GTEx ENSG00000148339 GTEx
HGNC ID HGNC:20663 ENTREZGENE
Human Proteome Map SLC25A25 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot
  EF_hand_dom UniProtKB/Swiss-Prot
  Graves_DC UniProtKB/Swiss-Prot
  Mit_carrier UniProtKB/Swiss-Prot
  Mitochondrial_sb/sol_carrier UniProtKB/Swiss-Prot
  Mt_carrier_dom_sf UniProtKB/Swiss-Prot
KEGG Report hsa:114789 UniProtKB/Swiss-Prot
NCBI Gene 114789 ENTREZGENE
OMIM 608745 OMIM
PANTHER SOLUTE CARRIER FAMILY 25 UniProtKB/Swiss-Prot
Pfam EF-hand_7 UniProtKB/Swiss-Prot
  EF-hand_8 UniProtKB/Swiss-Prot
  Mito_carr UniProtKB/Swiss-Prot
PharmGKB PA134952319 PharmGKB
PRINTS GRAVESDC UniProtKB/Swiss-Prot
  MITOCARRIER UniProtKB/Swiss-Prot
PROSITE EF_HAND_2 UniProtKB/Swiss-Prot
  SOLCAR UniProtKB/Swiss-Prot
SMART EFh UniProtKB/Swiss-Prot
Superfamily-SCOP SSF103506 UniProtKB/Swiss-Prot
  SSF47473 UniProtKB/Swiss-Prot
UniProt A0A804HI56_HUMAN UniProtKB/TrEMBL
  A0A804HLB0 ENTREZGENE, UniProtKB/TrEMBL
  F8WEY9_HUMAN UniProtKB/TrEMBL
  H7C4Z4_HUMAN UniProtKB/TrEMBL
  L0R8F1_HUMAN UniProtKB/TrEMBL
  Q5SYW7 ENTREZGENE
  Q5SYW8 ENTREZGENE
  Q5SYX3 ENTREZGENE
  Q5VWU2 ENTREZGENE
  Q5VWU3 ENTREZGENE
  Q5VWU4 ENTREZGENE
  Q6KCM4 ENTREZGENE
  Q6KCM6 ENTREZGENE
  Q6KCM7 ENTREZGENE
  Q6UX48 ENTREZGENE
  Q705K2 ENTREZGENE
  Q96PZ1 ENTREZGENE
  Q9BSA6 ENTREZGENE
  SCMC2_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q5SYW7 UniProtKB/Swiss-Prot
  Q5SYW8 UniProtKB/Swiss-Prot
  Q5SYX3 UniProtKB/Swiss-Prot
  Q5VWU2 UniProtKB/Swiss-Prot
  Q5VWU3 UniProtKB/Swiss-Prot
  Q5VWU4 UniProtKB/Swiss-Prot
  Q6KCM4 UniProtKB/Swiss-Prot
  Q6KCM6 UniProtKB/Swiss-Prot
  Q6UX48 UniProtKB/Swiss-Prot
  Q705K2 UniProtKB/Swiss-Prot
  Q96PZ1 UniProtKB/Swiss-Prot
  Q9BSA6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-08 SLC25A25  solute carrier family 25 member 25    solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25  Symbol and/or name change 5135510 APPROVED
2012-07-13 SLC25A25  solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25  SLC25A25  solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25  Symbol and/or name change 5135510 APPROVED