SLC26A7 (solute carrier family 26 member 7) - Rat Genome Database

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Gene: SLC26A7 (solute carrier family 26 member 7) Homo sapiens
Analyze
Symbol: SLC26A7
Name: solute carrier family 26 member 7
RGD ID: 1321983
HGNC Page HGNC
Description: Exhibits chloride channel activity; oxalate transmembrane transporter activity; and sulfate transmembrane transporter activity. Involved in chloride transport; oxalate transport; and sulfate transport. Localizes to basolateral plasma membrane and endosome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: anion exchange transporter; MGC126268; solute carrier family 26 (anion exchanger), member 7; solute carrier family 26, member 7; solute carrier family 6 member 7; sulfate anion transporter; SUT2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl891,209,494 - 91,398,155 (+)EnsemblGRCh38hg38GRCh38
GRCh38891,209,496 - 91,398,155 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37892,221,724 - 92,410,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36892,330,692 - 92,479,554 (+)NCBINCBI36hg18NCBI36
Build 34892,330,691 - 92,476,122NCBI
Celera888,455,583 - 88,604,581 (+)NCBI
Cytogenetic Map8q21.3NCBI
HuRef887,472,771 - 87,621,653 (+)NCBIHuRef
CHM1_1892,262,280 - 92,450,911 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:1183472   PMID:11581495   PMID:11829495   PMID:11834742   PMID:12477932   PMID:12736153   PMID:12965893   PMID:14702039   PMID:15284286   PMID:15956810   PMID:16524946   PMID:21822266  
PMID:21873635   PMID:21897333   PMID:24647542   PMID:28625976   PMID:29546359   PMID:30333321   PMID:32726161  


Genomics

Comparative Map Data
SLC26A7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl891,209,494 - 91,398,155 (+)EnsemblGRCh38hg38GRCh38
GRCh38891,209,496 - 91,398,155 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37892,221,724 - 92,410,383 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36892,330,692 - 92,479,554 (+)NCBINCBI36hg18NCBI36
Build 34892,330,691 - 92,476,122NCBI
Celera888,455,583 - 88,604,581 (+)NCBI
Cytogenetic Map8q21.3NCBI
HuRef887,472,771 - 87,621,653 (+)NCBIHuRef
CHM1_1892,262,280 - 92,450,911 (+)NCBICHM1_1
Slc26a7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39414,502,430 - 14,621,946 (-)NCBIGRCm39mm39
GRCm39 Ensembl414,502,430 - 14,621,805 (-)Ensembl
GRCm38414,502,430 - 14,621,946 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl414,502,430 - 14,621,805 (-)EnsemblGRCm38mm10GRCm38
MGSCv37414,432,344 - 14,548,925 (-)NCBIGRCm37mm9NCBIm37
MGSCv36414,432,344 - 14,548,904 (-)NCBImm8
Celera414,304,930 - 14,422,336 (-)NCBICelera
Cytogenetic Map4A1NCBI
Slc26a7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2527,884,400 - 28,021,865 (-)NCBI
Rnor_6.0 Ensembl527,986,663 - 28,177,340 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0527,986,656 - 28,131,294 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0532,676,375 - 32,816,664 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4528,899,539 - 29,035,178 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1528,899,654 - 29,034,843 (-)NCBI
Celera527,155,652 - 27,282,161 (-)NCBICelera
Cytogenetic Map5q13NCBI
Slc26a7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554177,987,835 - 8,127,729 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554177,977,292 - 8,127,241 (+)NCBIChiLan1.0ChiLan1.0
SLC26A7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1889,861,300 - 90,009,899 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl889,861,279 - 90,009,899 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0887,908,807 - 88,057,623 (+)NCBIMhudiblu_PPA_v0panPan3
SLC26A7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12936,616,054 - 36,729,705 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2936,615,676 - 36,726,803 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2936,768,037 - 36,881,698 (+)NCBI
ROS_Cfam_1.02936,817,996 - 36,931,302 (+)NCBI
UMICH_Zoey_3.12936,836,949 - 36,950,596 (+)NCBI
UNSW_CanFamBas_1.02936,818,733 - 36,931,876 (+)NCBI
UU_Cfam_GSD_1.02937,257,966 - 37,371,852 (+)NCBI
Slc26a7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530342,849,303 - 42,949,574 (-)NCBI
SpeTri2.0NW_0049365444,843,156 - 4,943,402 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC26A7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl445,409,866 - 45,637,433 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1445,410,795 - 45,637,500 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2449,029,845 - 49,138,217 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC26A7
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1886,281,314 - 86,454,970 (+)NCBI
ChlSab1.1 Ensembl886,311,373 - 86,454,960 (+)Ensembl
Slc26a7
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624744600,137 - 750,505 (-)NCBI

Position Markers
SHGC-83337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,326,774 - 92,327,104UniSTSGRCh37
Build 36892,395,950 - 92,396,280RGDNCBI36
Celera888,520,937 - 88,521,267RGD
Cytogenetic Map8q23UniSTS
HuRef887,538,028 - 87,538,358UniSTS
SHGC-85744  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,372,552 - 92,372,896UniSTSGRCh37
Build 36892,441,728 - 92,442,072RGDNCBI36
Celera888,566,751 - 88,567,095RGD
Cytogenetic Map8q23UniSTS
HuRef887,583,823 - 87,584,167UniSTS
SHGC-81740  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,273,354 - 92,273,630UniSTSGRCh37
Build 36892,342,530 - 92,342,806RGDNCBI36
Celera888,467,420 - 88,467,696RGD
Cytogenetic Map8q23UniSTS
HuRef887,484,608 - 87,484,884UniSTS
SHGC-154221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,292,620 - 92,292,908UniSTSGRCh37
Build 36892,361,796 - 92,362,084RGDNCBI36
Celera888,486,738 - 88,487,026RGD
Cytogenetic Map8q23UniSTS
HuRef887,503,863 - 87,504,151UniSTS
SLC26A7_2006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37892,409,790 - 92,410,524UniSTSGRCh37
Build 36892,478,966 - 92,479,700RGDNCBI36
Celera888,603,993 - 88,604,727RGD
HuRef887,621,065 - 87,621,799UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2091
Count of miRNA genes:915
Interacting mature miRNAs:1076
Transcripts:ENST00000276609, ENST00000309536, ENST00000517930, ENST00000520249, ENST00000520818, ENST00000522181, ENST00000522862, ENST00000523719
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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 3 3
Medium 7 695 3 3 148 47 698 1 1
Low 546 504 313 58 162 43 1304 123 583 120 625 187 17 563 720 2
Below cutoff 1785 2261 644 499 1314 356 2937 2038 3046 118 714 643 152 639 2063 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001282356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_052832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_134266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF331521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI758950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ413228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ413229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ413230 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW235609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX960423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC114474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN115835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000276609   ⟹   ENSP00000276609
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,249,319 - 91,398,155 (+)Ensembl
RefSeq Acc Id: ENST00000309536   ⟹   ENSP00000309504
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,249,307 - 91,394,718 (+)Ensembl
RefSeq Acc Id: ENST00000517930
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,357,248 - 91,393,836 (+)Ensembl
RefSeq Acc Id: ENST00000520249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,343,030 - 91,398,138 (+)Ensembl
RefSeq Acc Id: ENST00000520818   ⟹   ENSP00000428747
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,295,624 - 91,340,658 (+)Ensembl
RefSeq Acc Id: ENST00000522181   ⟹   ENSP00000427712
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,209,494 - 91,395,649 (+)Ensembl
RefSeq Acc Id: ENST00000522862   ⟹   ENSP00000428881
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,209,495 - 91,318,359 (+)Ensembl
RefSeq Acc Id: ENST00000523719   ⟹   ENSP00000428849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,209,500 - 91,395,756 (+)Ensembl
RefSeq Acc Id: ENST00000617078   ⟹   ENSP00000482686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,218,888 - 91,398,152 (+)Ensembl
RefSeq Acc Id: ENST00000617233   ⟹   ENSP00000482549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl891,218,888 - 91,398,152 (+)Ensembl
RefSeq Acc Id: NM_001282356   ⟹   NP_001269285
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38891,209,496 - 91,398,155 (+)NCBI
HuRef887,432,966 - 87,621,658 (+)NCBI
CHM1_1892,262,280 - 92,450,911 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001282357   ⟹   NP_001269286
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38891,209,496 - 91,398,155 (+)NCBI
HuRef887,432,966 - 87,621,658 (+)NCBI
CHM1_1892,262,280 - 92,450,911 (+)NCBI
Sequence:
RefSeq Acc Id: NM_052832   ⟹   NP_439897
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38891,249,319 - 91,398,155 (+)NCBI
GRCh37892,261,508 - 92,410,378 (+)NCBI
Build 36892,330,692 - 92,479,554 (+)NCBI Archive
Celera888,455,583 - 88,604,581 (+)RGD
HuRef887,432,966 - 87,621,658 (+)NCBI
CHM1_1892,302,075 - 92,450,911 (+)NCBI
Sequence:
RefSeq Acc Id: NM_134266   ⟹   NP_599028
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38891,249,319 - 91,394,718 (+)NCBI
GRCh37892,261,508 - 92,410,378 (+)NCBI
Build 36892,330,692 - 92,476,122 (+)NCBI Archive
Celera888,455,583 - 88,604,581 (+)RGD
HuRef887,432,966 - 87,621,658 (+)NCBI
CHM1_1892,302,075 - 92,447,474 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_439897   ⟸   NM_052832
- Peptide Label: isoform a
- UniProtKB: Q8TE54 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_599028   ⟸   NM_134266
- Peptide Label: isoform b
- UniProtKB: Q8TE54 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269285   ⟸   NM_001282356
- Peptide Label: isoform a
- UniProtKB: Q8TE54 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001269286   ⟸   NM_001282357
- Peptide Label: isoform c
- UniProtKB: Q8TE54 (UniProtKB/Swiss-Prot),   A0A087WZI7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000309504   ⟸   ENST00000309536
RefSeq Acc Id: ENSP00000428747   ⟸   ENST00000520818
RefSeq Acc Id: ENSP00000427712   ⟸   ENST00000522181
RefSeq Acc Id: ENSP00000428881   ⟸   ENST00000522862
RefSeq Acc Id: ENSP00000428849   ⟸   ENST00000523719
RefSeq Acc Id: ENSP00000482686   ⟸   ENST00000617078
RefSeq Acc Id: ENSP00000482549   ⟸   ENST00000617233
RefSeq Acc Id: ENSP00000276609   ⟸   ENST00000276609
Protein Domains
STAS   Sulfate_transp

Promoters
RGD ID:7213743
Promoter ID:EPDNEW_H12617
Type:multiple initiation site
Name:SLC26A7_1
Description:solute carrier family 26 member 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38891,249,319 - 91,249,379EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-22.1(chr8:85835757-93610142)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053676]|See cases [RCV000053676] Chr8:85835757..93610142 [GRCh38]
Chr8:86847986..94622370 [GRCh37]
Chr8:86917086..94691546 [NCBI36]
Chr8:8q21.2-22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1 copy number loss See cases [RCV000054261] Chr8:77765431..91839285 [GRCh38]
Chr8:78677666..92851513 [GRCh37]
Chr8:78840221..92920689 [NCBI36]
Chr8:8q21.13-21.3
pathogenic
GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1 copy number loss See cases [RCV000054263] Chr8:90940996..94538343 [GRCh38]
Chr8:91953224..95550571 [GRCh37]
Chr8:92022400..95619747 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
NM_134266.1(SLC26A7):c.871C>T (p.Pro291Ser) single nucleotide variant Malignant melanoma [RCV000068444] Chr8:91338225 [GRCh38]
Chr8:92350453 [GRCh37]
Chr8:92419629 [NCBI36]
Chr8:8q21.3
not provided
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
Single allele deletion Small for gestational age [RCV000161551] Chr8:91263540..91282886 [GRCh38]
Chr8:92275768..92295114 [GRCh37]
Chr8:8q21.3
not provided
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8q21.3(chr8:92378841-93053423)x1 copy number loss not provided [RCV000682995] Chr8:92378841..93053423 [GRCh37]
Chr8:8q21.3
uncertain significance
GRCh37/hg19 8q21.3-22.1(chr8:91914994-93365750)x1 copy number loss not provided [RCV000683011] Chr8:91914994..93365750 [GRCh37]
Chr8:8q21.3-22.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_052832.4(SLC26A7):c.1045C>T (p.Leu349Phe) single nucleotide variant not provided [RCV000950169] Chr8:91343371 [GRCh38]
Chr8:92355599 [GRCh37]
Chr8:8q21.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_052832.4(SLC26A7):c.1247G>C (p.Gly416Ala) single nucleotide variant not provided [RCV000999053] Chr8:91352929 [GRCh38]
Chr8:92365157 [GRCh37]
Chr8:8q21.3
uncertain significance
NM_052832.4(SLC26A7):c.1935+196_1935+198del microsatellite not provided [RCV000903603] Chr8:91394231..91394233 [GRCh38]
Chr8:92406459..92406461 [GRCh37]
Chr8:8q21.3
likely benign
NM_052832.4(SLC26A7):c.1363G>A (p.Val455Met) single nucleotide variant not provided [RCV000954944] Chr8:91362401 [GRCh38]
Chr8:92374629 [GRCh37]
Chr8:8q21.3
benign
NM_052832.4(SLC26A7):c.1498C>T (p.Gln500Ter) single nucleotide variant Congenital hypothyroidism [RCV001028069] Chr8:91366589 [GRCh38]
Chr8:92378817 [GRCh37]
Chr8:8q21.3
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14467 AgrOrtholog
COSMIC SLC26A7 COSMIC
Ensembl Genes ENSG00000147606 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000276609 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000309504 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427712 UniProtKB/TrEMBL
  ENSP00000428747 UniProtKB/TrEMBL
  ENSP00000428849 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428881 UniProtKB/TrEMBL
  ENSP00000482549 UniProtKB/Swiss-Prot
  ENSP00000482686 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000276609 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000309536 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000520818 UniProtKB/TrEMBL
  ENST00000522181 UniProtKB/TrEMBL
  ENST00000522862 UniProtKB/TrEMBL
  ENST00000523719 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000617078 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000617233 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.750.24 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000147606 GTEx
HGNC ID HGNC:14467 ENTREZGENE
Human Proteome Map SLC26A7 Human Proteome Map
InterPro SLC26A/SulP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC26A/SulP_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SLC26A7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAS_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STAS_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:115111 UniProtKB/Swiss-Prot
NCBI Gene 115111 ENTREZGENE
OMIM 608479 OMIM
PANTHER PTHR11814 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11814:SF75 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam STAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sulfate_transp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37884 PharmGKB
PROSITE STAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52091 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WZI7 ENTREZGENE, UniProtKB/TrEMBL
  A0A5P9KGI1_HUMAN UniProtKB/TrEMBL
  E5RFH2_HUMAN UniProtKB/TrEMBL
  E5RGL8_HUMAN UniProtKB/TrEMBL
  H0YB61_HUMAN UniProtKB/TrEMBL
  Q8TE54 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q24JS8 UniProtKB/Swiss-Prot
  Q8TE53 UniProtKB/Swiss-Prot
  Q96RN2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC26A7  solute carrier family 26 member 7    solute carrier family 26 (anion exchanger), member 7  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC26A7  solute carrier family 26 (anion exchanger), member 7    solute carrier family 26, member 7  Symbol and/or name change 5135510 APPROVED
2011-09-01 SLC26A7  solute carrier family 26, member 7  SLC26A7  solute carrier family 26, member 7  Symbol and/or name change 5135510 APPROVED