SLC4A2 (solute carrier family 4 member 2) - Rat Genome Database

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Gene: SLC4A2 (solute carrier family 4 member 2) Homo sapiens
Analyze
Symbol: SLC4A2
Name: solute carrier family 4 member 2
RGD ID: 733302
HGNC Page HGNC:11028
Description: Predicted to enable chloride transmembrane transporter activity. Predicted to be involved in several processes, including amelogenesis; anion transport; and positive regulation of enamel mineralization. Located in focal adhesion and membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AE 2; AE2; anion exchange protein 2; anion exchanger 2 type a; anion exchanger 2 type b1; anion exchanger 2 type b2; BND3L; EPB3L1; erythrocyte membrane protein band 3-like 1; FLJ59028; HKB3; NBND3; non-erythroid band 3-like protein; solute carrier family 4 (anion exchanger), member 2; solute carrier family 4, member 2
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
GRCh387151,058,200 - 151,076,527 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl7151,057,210 - 151,076,526 (+)EnsemblGRCh38hg38GRCh38
GRCh377150,755,287 - 150,773,614 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367150,387,590 - 150,404,547 (+)NCBINCBI36Build 36hg18NCBI36
Build 347150,194,386 - 150,211,257NCBI
Celera7145,313,966 - 145,330,946 (+)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7144,567,635 - 144,585,988 (+)NCBIHuRef
CHM1_17150,763,647 - 150,782,011 (+)NCBICHM1_1
T2T-CHM13v2.07152,231,288 - 152,249,645 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27150,084,838 - 150,103,154 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
apical plasma membrane  (IBA,IEA,ISO)
basolateral plasma membrane  (IBA,IEA,ISO)
focal adhesion  (HDA)
membrane  (HDA,IEA,TAS)
plasma membrane  (IBA,TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. Banales JM, etal., Am J Pathol. 2008 Dec;173(6):1637-46. Epub 2008 Nov 6.
2. Effect of prediabetes on membrane bicarbonate transporters in testis and epididymis. Bernardino RL, etal., J Membr Biol. 2013 Dec;246(12):877-83. doi: 10.1007/s00232-013-9601-4. Epub 2013 Oct 9.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Vacuolar H+-ATPase expression is increased in acid-secreting intercalated cells in kidneys of rats with hypercalcaemia-induced alkalosis. Wang W, etal., Acta Physiol (Oxf). 2007 Apr;189(4):359-68.
Additional References at PubMed
PMID:1562608   PMID:2968981   PMID:3015590   PMID:3020980   PMID:7626035   PMID:7984058   PMID:8434259   PMID:8889548   PMID:9027488   PMID:9477304   PMID:9587054   PMID:10452823  
PMID:10491290   PMID:10491633   PMID:10577919   PMID:10623603   PMID:10820026   PMID:11156694   PMID:11208611   PMID:11248201   PMID:11842009   PMID:11852051   PMID:12225956   PMID:12477932  
PMID:14575719   PMID:15489334   PMID:15790807   PMID:16344560   PMID:17058451   PMID:17652430   PMID:18438347   PMID:18676680   PMID:18930330   PMID:19170196   PMID:19224338   PMID:19491853  
PMID:19625176   PMID:19692168   PMID:19913121   PMID:19946888   PMID:20180022   PMID:20379614   PMID:20424473   PMID:20628086   PMID:21423176   PMID:21594562   PMID:21691115   PMID:21873635  
PMID:22383162   PMID:22658674   PMID:22802585   PMID:22810586   PMID:23121767   PMID:23275563   PMID:23403292   PMID:26186194   PMID:26496610   PMID:26716707   PMID:26991014   PMID:27015766  
PMID:27543333   PMID:28455748   PMID:28514442   PMID:28743911   PMID:28986522   PMID:30194290   PMID:30639242   PMID:31073040   PMID:31741433   PMID:31871319   PMID:31995728   PMID:32513696  
PMID:32788342   PMID:33182643   PMID:33727633   PMID:33845483   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34279699   PMID:34432599   PMID:34668226   PMID:34944008   PMID:35271311  


Genomics

Comparative Map Data
SLC4A2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387151,058,200 - 151,076,527 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl7151,057,210 - 151,076,526 (+)EnsemblGRCh38hg38GRCh38
GRCh377150,755,287 - 150,773,614 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 367150,387,590 - 150,404,547 (+)NCBINCBI36Build 36hg18NCBI36
Build 347150,194,386 - 150,211,257NCBI
Celera7145,313,966 - 145,330,946 (+)NCBICelera
Cytogenetic Map7q36.1NCBI
HuRef7144,567,635 - 144,585,988 (+)NCBIHuRef
CHM1_17150,763,647 - 150,782,011 (+)NCBICHM1_1
T2T-CHM13v2.07152,231,288 - 152,249,645 (+)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27150,084,838 - 150,103,154 (+)NCBI
Slc4a2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39524,628,939 - 24,645,945 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl524,628,835 - 24,645,948 (+)EnsemblGRCm39 Ensembl
GRCm38524,423,761 - 24,440,947 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl524,423,837 - 24,440,950 (+)EnsemblGRCm38mm10GRCm38
MGSCv37523,931,050 - 23,946,765 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36523,935,384 - 23,951,010 (+)NCBIMGSCv36mm8
Celera521,375,044 - 21,390,745 (+)NCBICelera
Cytogenetic Map5A3NCBI
cM Map511.74NCBI
Slc4a2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2410,736,419 - 10,754,407 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl410,736,425 - 10,752,965 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx415,882,663 - 15,899,242 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0411,702,854 - 11,719,435 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0410,054,638 - 10,071,219 (-)NCBIRnor_WKY
Rnor_6.047,264,677 - 7,282,355 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl47,264,683 - 7,281,223 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.047,276,041 - 7,294,088 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.446,100,783 - 6,117,982 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.146,100,782 - 6,117,982 (-)NCBI
Celera46,350,986 - 6,367,533 (-)NCBICelera
Cytogenetic Map4q11NCBI
Slc4a2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554915,499,033 - 5,517,319 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554915,498,472 - 5,513,389 (+)NCBIChiLan1.0ChiLan1.0
SLC4A2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.17154,799,256 - 154,815,919 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7154,799,256 - 154,815,919 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v07142,646,413 - 142,663,376 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
SLC4A2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11615,111,078 - 15,126,618 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1615,111,116 - 15,126,617 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1615,719,293 - 15,734,862 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01616,833,273 - 16,848,983 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1616,833,256 - 16,848,981 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11615,205,711 - 15,221,294 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01615,787,162 - 15,802,688 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01615,837,873 - 15,853,424 (+)NCBIUU_Cfam_GSD_1.0
Slc4a2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244051186,403,528 - 6,418,117 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365276,485,566 - 6,499,901 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SLC4A2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl186,149,459 - 6,165,212 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1186,149,459 - 6,166,622 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2186,513,563 - 6,532,069 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SLC4A2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.121119,240,352 - 119,258,920 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl21119,241,490 - 119,263,193 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607215,211,406 - 15,229,713 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Slc4a2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248005,545,380 - 5,560,789 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Position Markers
RH71298  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,773,742 - 150,773,917UniSTSGRCh37
Build 367150,404,675 - 150,404,850RGDNCBI36
Celera7145,331,074 - 145,331,249RGD
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7q35UniSTS
HuRef7144,586,116 - 144,586,291UniSTS
CRA_TCAGchr7v27150,103,282 - 150,103,457UniSTS
GeneMap99-GB4 RH Map7675.32UniSTS
RH48801  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,772,763 - 150,773,123UniSTSGRCh37
Build 367150,403,696 - 150,404,056RGDNCBI36
Celera7145,330,095 - 145,330,455RGD
Cytogenetic Map7q36.1UniSTS
HuRef7144,585,137 - 144,585,497UniSTS
CRA_TCAGchr7v27150,102,303 - 150,102,663UniSTS
GeneMap99-GB4 RH Map7675.52UniSTS
STS-X62137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377150,773,482 - 150,773,594UniSTSGRCh37
Build 367150,404,415 - 150,404,527RGDNCBI36
Celera7145,330,814 - 145,330,926RGD
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7q35UniSTS
HuRef7144,585,856 - 144,585,968UniSTS
CRA_TCAGchr7v27150,103,022 - 150,103,134UniSTS
GeneMap99-GB4 RH Map7673.39UniSTS
NCBI RH Map71507.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7487
Count of miRNA genes:1028
Interacting mature miRNAs:1320
Transcripts:ENST00000310317, ENST00000392826, ENST00000413384, ENST00000460010, ENST00000461735, ENST00000463414, ENST00000466368, ENST00000469355, ENST00000469467, ENST00000472204, ENST00000480107, ENST00000482697, ENST00000482950, ENST00000483786, ENST00000485713, ENST00000488420, ENST00000490898, ENST00000493040, ENST00000494125, ENST00000494298
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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 2427 2184 1581 541 1411 387 3719 1314 1338 396 1418 1598 167 1199 2161 4
Low 6 800 143 81 533 77 636 880 2375 23 32 10 5 1 5 627 1
Below cutoff 2 2 4 1 5 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001199694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH008864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY927498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC028601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM680391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV807529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA103528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA237239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA699325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB065890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ149844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U62531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X62137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000392826   ⟹   ENSP00000376571
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,062,547 - 151,076,522 (+)Ensembl
RefSeq Acc Id: ENST00000413384   ⟹   ENSP00000405600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,059,589 - 151,076,523 (+)Ensembl
RefSeq Acc Id: ENST00000460010
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,071,665 - 151,074,117 (+)Ensembl
RefSeq Acc Id: ENST00000461735   ⟹   ENSP00000419164
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,062,634 - 151,076,523 (+)Ensembl
RefSeq Acc Id: ENST00000463414   ⟹   ENSP00000418584
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,061,244 - 151,064,760 (+)Ensembl
RefSeq Acc Id: ENST00000466368
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,058,200 - 151,061,960 (+)Ensembl
RefSeq Acc Id: ENST00000469355
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,070,354 - 151,071,132 (+)Ensembl
RefSeq Acc Id: ENST00000469467
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,075,983 - 151,076,524 (+)Ensembl
RefSeq Acc Id: ENST00000472204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,072,004 - 151,075,312 (+)Ensembl
RefSeq Acc Id: ENST00000480107
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,070,717 - 151,071,601 (+)Ensembl
RefSeq Acc Id: ENST00000482697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,071,729 - 151,074,085 (+)Ensembl
RefSeq Acc Id: ENST00000482950   ⟹   ENSP00000419379
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,061,217 - 151,064,691 (+)Ensembl
RefSeq Acc Id: ENST00000483786   ⟹   ENSP00000417808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,057,210 - 151,064,744 (+)Ensembl
RefSeq Acc Id: ENST00000485713   ⟹   ENSP00000419412
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,058,212 - 151,076,526 (+)Ensembl
RefSeq Acc Id: ENST00000488420   ⟹   ENSP00000417221
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,061,589 - 151,064,361 (+)Ensembl
RefSeq Acc Id: ENST00000490898   ⟹   ENSP00000418114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,060,070 - 151,064,895 (+)Ensembl
RefSeq Acc Id: ENST00000493040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,071,477 - 151,072,136 (+)Ensembl
RefSeq Acc Id: ENST00000494125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,059,591 - 151,064,697 (+)Ensembl
RefSeq Acc Id: ENST00000494298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,070,517 - 151,071,167 (+)Ensembl
RefSeq Acc Id: ENST00000677246   ⟹   ENSP00000504447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7151,061,925 - 151,076,526 (+)Ensembl
RefSeq Acc Id: NM_001199692   ⟹   NP_001186621
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,058,200 - 151,076,523 (+)NCBI
GRCh377150,755,299 - 150,773,614 (+)ENTREZGENE
HuRef7144,567,635 - 144,585,988 (+)ENTREZGENE
CHM1_17150,763,647 - 150,782,011 (+)NCBI
T2T-CHM13v2.07152,231,288 - 152,249,641 (+)NCBI
CRA_TCAGchr7v27150,084,838 - 150,103,154 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001199693   ⟹   NP_001186622
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,062,547 - 151,076,527 (+)NCBI
GRCh377150,755,299 - 150,773,614 (+)ENTREZGENE
HuRef7144,567,635 - 144,585,988 (+)ENTREZGENE
CHM1_17150,767,973 - 150,782,011 (+)NCBI
T2T-CHM13v2.07152,235,626 - 152,249,645 (+)NCBI
CRA_TCAGchr7v27150,084,838 - 150,103,154 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001199694   ⟹   NP_001186623
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,062,642 - 151,076,527 (+)NCBI
GRCh377150,755,299 - 150,773,614 (+)ENTREZGENE
HuRef7144,567,635 - 144,585,988 (+)ENTREZGENE
CHM1_17150,768,078 - 150,782,011 (+)NCBI
T2T-CHM13v2.07152,235,721 - 152,249,645 (+)NCBI
CRA_TCAGchr7v27150,084,838 - 150,103,154 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_003040   ⟹   NP_003031
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,059,589 - 151,076,523 (+)NCBI
GRCh377150,755,299 - 150,773,614 (+)ENTREZGENE
Build 367150,387,590 - 150,404,547 (+)NCBI Archive
HuRef7144,567,635 - 144,585,988 (+)ENTREZGENE
CHM1_17150,765,005 - 150,782,011 (+)NCBI
T2T-CHM13v2.07152,232,677 - 152,249,641 (+)NCBI
CRA_TCAGchr7v27150,084,838 - 150,103,154 (+)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_006716094   ⟹   XP_006716157
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,059,589 - 151,071,609 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047420747   ⟹   XP_047276703
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,061,244 - 151,076,527 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001186621 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186622 (Get FASTA)   NCBI Sequence Viewer  
  NP_001186623 (Get FASTA)   NCBI Sequence Viewer  
  NP_003031 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716157 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276703 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC50964 (Get FASTA)   NCBI Sequence Viewer  
  AAF19583 (Get FASTA)   NCBI Sequence Viewer  
  AAF19584 (Get FASTA)   NCBI Sequence Viewer  
  AAF23240 (Get FASTA)   NCBI Sequence Viewer  
  AAH04893 (Get FASTA)   NCBI Sequence Viewer  
  AAH09386 (Get FASTA)   NCBI Sequence Viewer  
  AAH09434 (Get FASTA)   NCBI Sequence Viewer  
  AAH10069 (Get FASTA)   NCBI Sequence Viewer  
  AAH28601 (Get FASTA)   NCBI Sequence Viewer  
  AAZ38724 (Get FASTA)   NCBI Sequence Viewer  
  BAD92395 (Get FASTA)   NCBI Sequence Viewer  
  BAG35577 (Get FASTA)   NCBI Sequence Viewer  
  BAG58592 (Get FASTA)   NCBI Sequence Viewer  
  BAH12249 (Get FASTA)   NCBI Sequence Viewer  
  CAA27556 (Get FASTA)   NCBI Sequence Viewer  
  CAA44067 (Get FASTA)   NCBI Sequence Viewer  
  EAW54044 (Get FASTA)   NCBI Sequence Viewer  
  EAW54045 (Get FASTA)   NCBI Sequence Viewer  
  EAW54046 (Get FASTA)   NCBI Sequence Viewer  
  EAW54047 (Get FASTA)   NCBI Sequence Viewer  
  EAW54048 (Get FASTA)   NCBI Sequence Viewer  
  P04920 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001186621   ⟸   NM_001199692
- Peptide Label: isoform 1
- UniProtKB: Q969L3 (UniProtKB/Swiss-Prot),   P04920 (UniProtKB/Swiss-Prot),   Q59GF1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003031   ⟸   NM_003040
- Peptide Label: isoform 1
- UniProtKB: Q969L3 (UniProtKB/Swiss-Prot),   P04920 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001186622   ⟸   NM_001199693
- Peptide Label: isoform 2
- UniProtKB: P04920 (UniProtKB/Swiss-Prot),   Q59GF1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001186623   ⟸   NM_001199694
- Peptide Label: isoform 3
- UniProtKB: P04920 (UniProtKB/Swiss-Prot),   Q59GF1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716157   ⟸   XM_006716094
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000418584   ⟸   ENST00000463414
RefSeq Acc Id: ENSP00000418114   ⟸   ENST00000490898
RefSeq Acc Id: ENSP00000405600   ⟸   ENST00000413384
RefSeq Acc Id: ENSP00000419379   ⟸   ENST00000482950
RefSeq Acc Id: ENSP00000417808   ⟸   ENST00000483786
RefSeq Acc Id: ENSP00000376571   ⟸   ENST00000392826
RefSeq Acc Id: ENSP00000419412   ⟸   ENST00000485713
RefSeq Acc Id: ENSP00000417221   ⟸   ENST00000488420
RefSeq Acc Id: ENSP00000419164   ⟸   ENST00000461735
RefSeq Acc Id: ENSP00000504447   ⟸   ENST00000677246
RefSeq Acc Id: XP_047276703   ⟸   XM_047420747
- Peptide Label: isoform X1
- UniProtKB: Q969L3 (UniProtKB/Swiss-Prot)
Protein Domains
Band_3_cyto   HCO3_cotransp

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P04920-F1-model_v2 AlphaFold P04920 1-1241 view protein structure

Promoters
RGD ID:6806199
Promoter ID:HG_KWN:60276
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_003040
Position:
Human AssemblyChrPosition (strand)Source
Build 367150,387,311 - 150,387,811 (+)MPROMDB
RGD ID:6806195
Promoter ID:HG_KWN:60277
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid
Transcripts:ENST00000310317
Position:
Human AssemblyChrPosition (strand)Source
Build 367150,388,446 - 150,389,577 (+)MPROMDB
RGD ID:6806197
Promoter ID:HG_KWN:60278
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:UC003WIU.2
Position:
Human AssemblyChrPosition (strand)Source
Build 367150,390,326 - 150,391,077 (+)MPROMDB
RGD ID:6806200
Promoter ID:HG_KWN:60279
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:UC003WIV.2
Position:
Human AssemblyChrPosition (strand)Source
Build 367150,399,376 - 150,399,877 (+)MPROMDB
RGD ID:7212341
Promoter ID:EPDNEW_H11917
Type:initiation region
Name:SLC4A2_3
Description:solute carrier family 4 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11918  EPDNEW_H11919  EPDNEW_H11920  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,058,153 - 151,058,213EPDNEW
RGD ID:7212343
Promoter ID:EPDNEW_H11918
Type:initiation region
Name:SLC4A2_1
Description:solute carrier family 4 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11917  EPDNEW_H11919  EPDNEW_H11920  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,059,603 - 151,059,663EPDNEW
RGD ID:7212345
Promoter ID:EPDNEW_H11919
Type:initiation region
Name:SLC4A2_4
Description:solute carrier family 4 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11917  EPDNEW_H11918  EPDNEW_H11920  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,061,247 - 151,061,307EPDNEW
RGD ID:7212387
Promoter ID:EPDNEW_H11920
Type:initiation region
Name:SLC4A2_2
Description:solute carrier family 4 member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11917  EPDNEW_H11918  EPDNEW_H11919  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387151,062,621 - 151,062,681EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3 copy number gain See cases [RCV000050876] Chr7:129310166..159282390 [GRCh38]
Chr7:128950007..159075079 [GRCh37]
Chr7:128737243..158767840 [NCBI36]
Chr7:7q32.1-36.3
pathogenic
GRCh38/hg38 7q36.1(chr7:150319864-152674271)x1 copy number loss See cases [RCV000050552] Chr7:150319864..152674271 [GRCh38]
Chr7:150016953..152371356 [GRCh37]
Chr7:149647886..152002289 [NCBI36]
Chr7:7q36.1
pathogenic
GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1 copy number loss See cases [RCV000050750] Chr7:143884559..152674271 [GRCh38]
Chr7:143581652..152371356 [GRCh37]
Chr7:143212585..152002289 [NCBI36]
Chr7:7q35-36.1
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3 copy number gain See cases [RCV000051101] Chr7:132850196..159325876 [GRCh38]
Chr7:132534956..159118566 [GRCh37]
Chr7:132185496..158811327 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q35-36.3(chr7:147250465-159325876)x1 copy number loss See cases [RCV000051108] Chr7:147250465..159325876 [GRCh38]
Chr7:146947557..159118566 [GRCh37]
Chr7:146578490..158811327 [NCBI36]
Chr7:7q35-36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3 copy number gain See cases [RCV000053576] Chr7:136309982..159307523 [GRCh38]
Chr7:135994730..159100212 [GRCh37]
Chr7:135645270..158792973 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142021716-159325876)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053577]|See cases [RCV000053577] Chr7:142021716..159325876 [GRCh38]
Chr7:142528609..159118566 [GRCh37]
Chr7:141367985..158811327 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1 copy number loss See cases [RCV000054178] Chr7:143884559..159282390 [GRCh38]
Chr7:143581652..159075079 [GRCh37]
Chr7:143212585..158767840 [NCBI36]
Chr7:7q35-36.3
pathogenic
GRCh38/hg38 7q35-36.3(chr7:145699944-159296617)x1 copy number loss See cases [RCV000054188] Chr7:145699944..159296617 [GRCh38]
Chr7:145397037..159089306 [GRCh37]
Chr7:145027970..158782067 [NCBI36]
Chr7:7q35-36.3
pathogenic
GRCh38/hg38 7q36.1(chr7:148256584-152332535)x1 copy number loss See cases [RCV000054189] Chr7:148256584..152332535 [GRCh38]
Chr7:147953676..152029620 [GRCh37]
Chr7:147584609..151660553 [NCBI36]
Chr7:7q36.1
pathogenic
NM_003040.4(SLC4A2):c.2220G>T (p.Val740=) single nucleotide variant not provided [RCV000054694] Chr7:151071717 [GRCh38]
Chr7:150768804 [GRCh37]
Chr7:7q36.1
uncertain significance
NM_003040.4(SLC4A2):c.2242G>T (p.Ala748Ser) single nucleotide variant not provided [RCV000054695] Chr7:151071739 [GRCh38]
Chr7:150768826 [GRCh37]
Chr7:7q36.1
uncertain significance
NM_003040.4(SLC4A2):c.237C>T (p.His79=) single nucleotide variant not provided [RCV000054696] Chr7:151064545 [GRCh38]
Chr7:150761632 [GRCh37]
Chr7:7q36.1
uncertain significance
NM_003040.4(SLC4A2):c.3140C>T (p.Ala1047Val) single nucleotide variant not provided [RCV000054697] Chr7:151075347 [GRCh38]
Chr7:150772434 [GRCh37]
Chr7:7q36.1
uncertain significance
NM_003040.4(SLC4A2):c.3342C>T (p.Pro1114=) single nucleotide variant not provided [RCV000054698] Chr7:151075646 [GRCh38]
Chr7:150772733 [GRCh37]
Chr7:7q36.1
uncertain significance
NM_003040.4(SLC4A2):c.3358G>A (p.Gly1120Arg) single nucleotide variant not provided [RCV000054699] Chr7:151075662 [GRCh38]
Chr7:150772749 [GRCh37]
Chr7:7q36.1
uncertain significance
NM_003040.4(SLC4A2):c.3474C>T (p.Val1158=) single nucleotide variant not provided [RCV000054700] Chr7:151076015 [GRCh38]
Chr7:150773102 [GRCh37]
Chr7:7q36.1
uncertain significance
NM_003040.4(SLC4A2):c.3550G>A (p.Ala1184Thr) single nucleotide variant not provided [RCV000054701] Chr7:151076091 [GRCh38]
Chr7:150773178 [GRCh37]
Chr7:7q36.1
uncertain significance
NM_003040.4(SLC4A2):c.3559C>T (p.Leu1187=) single nucleotide variant not provided [RCV000054702] Chr7:151076100 [GRCh38]
Chr7:150773187 [GRCh37]
Chr7:7q36.1
uncertain significance
NM_003040.4(SLC4A2):c.53C>T (p.Pro18Leu) single nucleotide variant not provided [RCV000054703] Chr7:151064203 [GRCh38]
Chr7:150761290 [GRCh37]
Chr7:7q36.1
uncertain significance
NM_003040.4(SLC4A2):c.61G>A (p.Glu21Lys) single nucleotide variant not provided [RCV000054704] Chr7:151064211 [GRCh38]
Chr7:150761298 [GRCh37]
Chr7:7q36.1
uncertain significance
NM_003040.4(SLC4A2):c.646G>A (p.Gly216Arg) single nucleotide variant not provided [RCV000054705] Chr7:151066584 [GRCh38]
Chr7:150763671 [GRCh37]
Chr7:7q36.1
uncertain significance
NM_003040.4(SLC4A2):c.94G>A (p.Glu32Lys) single nucleotide variant not provided [RCV000054706] Chr7:151064244 [GRCh38]
Chr7:150761331 [GRCh37]
Chr7:7q36.1
uncertain significance
GRCh38/hg38 7q34-36.3(chr7:139365967-159282531)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054175]|See cases [RCV000054175] Chr7:139365967..159282531 [GRCh38]
Chr7:139050713..159075220 [GRCh37]
Chr7:138701253..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1 copy number loss See cases [RCV000054176] Chr7:140754198..159307523 [GRCh38]
Chr7:140453998..159100212 [GRCh37]
Chr7:140100467..158792973 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:142358524-159282531)x1 copy number loss See cases [RCV000054177] Chr7:142358524..159282531 [GRCh38]
Chr7:142528609..159075220 [GRCh37]
Chr7:141726947..158767981 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7q35-36.2(chr7:147345844-153833351)x3 copy number gain See cases [RCV000135825] Chr7:147345844..153833351 [GRCh38]
Chr7:147042936..153530436 [GRCh37]
Chr7:146673869..153161369 [NCBI36]
Chr7:7q35-36.2
pathogenic
GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3 copy number gain See cases [RCV000136592] Chr7:137751200..154815582 [GRCh38]
Chr7:137435946..154607292 [GRCh37]
Chr7:137086486..154238225 [NCBI36]
Chr7:7q33-36.2
pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150486071-159335865)x1 copy number loss See cases [RCV000136089] Chr7:150486071..159335865 [GRCh38]
Chr7:150183159..159128555 [GRCh37]
Chr7:149814092..158821316 [NCBI36]
Chr7:7q36.1-36.3
pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3
pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150802801-159335866)x1 copy number loss See cases [RCV000137465] Chr7:150802801..159335866 [GRCh38]
Chr7:150499889..159128556 [GRCh37]
Chr7:150130822..158821317 [NCBI36]
Chr7:7q36.1-36.3
pathogenic
GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1 copy number loss See cases [RCV000137256] Chr7:141960861..159335866 [GRCh38]
Chr7:142528609..159128556 [GRCh37]
Chr7:141307130..158821317 [NCBI36]
Chr7:7q34-36.3
pathogenic
GRCh38/hg38 7q35-36.3(chr7:145436544-159331441)x1 copy number loss See cases [RCV000137338] Chr7:145436544..159331441 [GRCh38]
Chr7:145133637..159124131 [GRCh37]
Chr7:144764570..158816892 [NCBI36]
Chr7:7q35-36.3
pathogenic|likely pathogenic
GRCh38/hg38 7q35-36.3(chr7:145250254-159335866)x1 copy number loss See cases [RCV000138005] Chr7:145250254..159335866 [GRCh38]
Chr7:144947347..159128556 [GRCh37]
Chr7:144578280..158821317 [NCBI36]
Chr7:7q35-36.3
pathogenic
GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1 copy number loss See cases [RCV000138120] Chr7:134666829..158591882 [GRCh38]
Chr7:134351581..158384574 [GRCh37]
Chr7:134002121..158077335 [NCBI36]
Chr7:7q33-36.3
pathogenic
GRCh38/hg38 7q35-36.3(chr7:146047157-157522158)x1 copy number loss See cases [RCV000137781] Chr7:146047157..157522158 [GRCh38]
Chr7:145744250..157314852 [GRCh37]
Chr7:145375183..157007613 [NCBI36]
Chr7:7q35-36.3
pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3
pathogenic
GRCh38/hg38 7q36.1-36.2(chr7:150113232-154162779)x3 copy number gain See cases [RCV000138566] Chr7:150113232..154162779 [GRCh38]
Chr7:149810321..153859864 [GRCh37]
Chr7:149441254..153490797 [NCBI36]
Chr7:7q36.1-36.2
likely pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3 copy number gain See cases [RCV000139654] Chr7:132444095..159335866 [GRCh38]
Chr7:132128854..159128556 [GRCh37]
Chr7:131779394..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q36.1-36.2(chr7:150275734-153342804)x3 copy number gain See cases [RCV000139660] Chr7:150275734..153342804 [GRCh38]
Chr7:149972823..153039889 [GRCh37]
Chr7:149603756..152670822 [NCBI36]
Chr7:7q36.1-36.2
uncertain significance
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3
pathogenic
GRCh38/hg38 7q36.1-36.3(chr7:150260297-159325876)x1 copy number loss See cases [RCV000142592] Chr7:150260297..159325876 [GRCh38]
Chr7:149957386..159118566 [GRCh37]
Chr7:149588319..158811327 [NCBI36]
Chr7:7q36.1-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3 copy number gain See cases [RCV000142802] Chr7:131228764..159335866 [GRCh38]
Chr7:130913523..159128556 [GRCh37]
Chr7:130564063..158821317 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3 copy number gain See cases [RCV000143754] Chr7:131171478..159327017 [GRCh38]
Chr7:130856237..159119707 [GRCh37]
Chr7:130506777..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3 copy number gain See cases [RCV000143707] Chr7:132438072..159327017 [GRCh38]
Chr7:132122831..159119707 [GRCh37]
Chr7:131773371..158812468 [NCBI36]
Chr7:7q32.3-36.3
pathogenic
GRCh38/hg38 7q35-36.3(chr7:147144002-159327017)x1 copy number loss See cases [RCV000143503] Chr7:147144002..159327017 [GRCh38]
Chr7:146841094..159119707 [GRCh37]
Chr7:146472027..158812468 [NCBI36]
Chr7:7q35-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:137589621-159119707)x3 copy number gain See cases [RCV000449264] Chr7:137589621..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q35-36.3(chr7:143839360-159138663) copy number loss Abnormal esophagus morphology [RCV000416719] Chr7:143839360..159138663 [GRCh37]
Chr7:7q35-36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133799185-159119707)x1 copy number loss See cases [RCV000448836] Chr7:133799185..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3 copy number gain See cases [RCV000447776] Chr7:149261179..159075020 [GRCh37]
Chr7:7q36.1-36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1 copy number loss See cases [RCV000510250] Chr7:140636858..159119707 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3 copy number gain See cases [RCV000510490] Chr7:136758593..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q36.1(chr7:148189771-150867270)x4 copy number gain See cases [RCV000511618] Chr7:148189771..150867270 [GRCh37]
Chr7:7q36.1
uncertain significance
GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1 copy number loss See cases [RCV000511889] Chr7:137917376..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:150553743-159119707)x3 copy number gain See cases [RCV000510762] Chr7:150553743..159119707 [GRCh37]
Chr7:7q36.1-36.3
likely pathogenic
NC_000007.13:g.(?_150642433)_(151573725_?)del deletion Long QT syndrome [RCV000631876] Chr7:150642433..151573725 [GRCh37]
Chr7:7q36.1
pathogenic
GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1 copy number loss not provided [RCV000682910] Chr7:140133025..158982771 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3
pathogenic
GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3 copy number gain not provided [RCV000849569] Chr7:130592554..159119707 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:139623170-158329903)x3 copy number gain not provided [RCV000747070] Chr7:139623170..158329903 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q34-36.3(chr7:141938235-159126310)x1 copy number loss not provided [RCV000747083] Chr7:141938235..159126310 [GRCh37]
Chr7:7q34-36.3
pathogenic
GRCh37/hg19 7q35-36.1(chr7:143711059-152573935)x3 copy number gain not provided [RCV000747094] Chr7:143711059..152573935 [GRCh37]
Chr7:7q35-36.1
benign
GRCh37/hg19 7q36.1-36.3(chr7:148238976-159126310)x1 copy number loss not provided [RCV000747115] Chr7:148238976..159126310 [GRCh37]
Chr7:7q36.1-36.3
pathogenic
NM_003040.4(SLC4A2):c.3657C>T (p.Asn1219=) single nucleotide variant not provided [RCV000947086] Chr7:151076298 [GRCh38]
Chr7:150773385 [GRCh37]
Chr7:7q36.1
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3
pathogenic
NC_000007.13:g.(?_150642443)_(151385353_?)dup duplication Long QT syndrome [RCV001031214] Chr7:150642443..151385353 [GRCh37]
Chr7:7q36.1
uncertain significance
GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1 copy number loss See cases [RCV001007432] Chr7:131414604..159126310 [GRCh37]
Chr7:7q32.3-36.3
pathogenic
GRCh37/hg19 7q35-36.3(chr7:145962558-159119707)x1 copy number loss not provided [RCV001006022] Chr7:145962558..159119707 [GRCh37]
Chr7:7q35-36.3
pathogenic
GRCh37/hg19 7q36.1(chr7:149968222-152539376)x3 copy number gain not provided [RCV000847582] Chr7:149968222..152539376 [GRCh37]
Chr7:7q36.1
uncertain significance
NC_000007.13:g.(?_150066801)_(150759750_?)del deletion Long QT syndrome [RCV001031491] Chr7:150066801..150759750 [GRCh37]
Chr7:7q36.1
pathogenic
NM_003040.4(SLC4A2):c.3302-5C>T single nucleotide variant not provided [RCV000906513] Chr7:151075601 [GRCh38]
Chr7:150772688 [GRCh37]
Chr7:7q36.1
likely benign
NM_003040.4(SLC4A2):c.3594G>A (p.Pro1198=) single nucleotide variant not provided [RCV000898958] Chr7:151076135 [GRCh38]
Chr7:150773222 [GRCh37]
Chr7:7q36.1
likely benign
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3
pathogenic
GRCh37/hg19 7q35-36.3(chr7:143107740-156886246)x3 copy number gain not provided [RCV001249383] Chr7:143107740..156886246 [GRCh37]
Chr7:7q35-36.3
not provided
NC_000007.13:g.(?_150642453)_(152373165_?)dup duplication Long QT syndrome [RCV001327691] Chr7:150642453..152373165 [GRCh37]
Chr7:7q36.1
uncertain significance
NC_000007.13:g.(?_150642443)_(151385353_?)del deletion Long QT syndrome [RCV001380536] Chr7:150642443..151385353 [GRCh37]
Chr7:7q36.1
pathogenic
GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1 copy number loss Kleefstra syndrome 2 [RCV001801228] Chr7:150745923..152373214 [GRCh37]
Chr7:7q36.1
pathogenic
GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3 copy number gain not provided [RCV001834520] Chr7:133851002..159119707 [GRCh37]
Chr7:7q33-36.3
pathogenic
NM_003040.4(SLC4A2):c.2107G>A (p.Ala703Thr) single nucleotide variant Distal renal tubular acidosis [RCV001849709] Chr7:151071521 [GRCh38]
Chr7:150768608 [GRCh37]
Chr7:7q36.1
likely pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3 copy number gain not provided [RCV001827941] Chr7:148153261..157543640 [GRCh37]
Chr7:7q36.1-36.3
pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:148695373-159119707)x1 copy number loss not provided [RCV001832910] Chr7:148695373..159119707 [GRCh37]
Chr7:7q36.1-36.3
pathogenic
NC_000007.13:g.(?_150642453)_(151573705_?)dup duplication Lethal congenital glycogen storage disease of heart [RCV001978713] Chr7:150642453..151573705 [GRCh37]
Chr7:7q36.1
uncertain significance
GRCh37/hg19 7q35-36.3(chr7:146927174-159128556)x3 copy number gain not provided [RCV002279740] Chr7:146927174..159128556 [GRCh37]
Chr7:7q35-36.3
pathogenic
GRCh37/hg19 7q36.1-36.3(chr7:149062717-159124131)x1 copy number loss not provided [RCV002279756] Chr7:149062717..159124131 [GRCh37]
Chr7:7q36.1-36.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11028 AgrOrtholog
COSMIC SLC4A2 COSMIC
Ensembl Genes ENSG00000164889 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000376571 ENTREZGENE
  ENSP00000376571.2 UniProtKB/Swiss-Prot
  ENSP00000405600 ENTREZGENE
  ENSP00000405600.2 UniProtKB/Swiss-Prot
  ENSP00000417221.1 UniProtKB/TrEMBL
  ENSP00000417808.1 UniProtKB/TrEMBL
  ENSP00000418114.1 UniProtKB/TrEMBL
  ENSP00000418584.1 UniProtKB/TrEMBL
  ENSP00000419164 ENTREZGENE
  ENSP00000419164.1 UniProtKB/Swiss-Prot
  ENSP00000419379.1 UniProtKB/TrEMBL
  ENSP00000419412 ENTREZGENE
  ENSP00000419412.1 UniProtKB/Swiss-Prot
  ENSP00000504447.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000392826 ENTREZGENE
  ENST00000392826.6 UniProtKB/Swiss-Prot
  ENST00000413384 ENTREZGENE
  ENST00000413384.7 UniProtKB/Swiss-Prot
  ENST00000461735 ENTREZGENE
  ENST00000461735.1 UniProtKB/Swiss-Prot
  ENST00000463414.5 UniProtKB/TrEMBL
  ENST00000482950.5 UniProtKB/TrEMBL
  ENST00000483786.5 UniProtKB/TrEMBL
  ENST00000485713 ENTREZGENE
  ENST00000485713.5 UniProtKB/Swiss-Prot
  ENST00000488420.1 UniProtKB/TrEMBL
  ENST00000490898.5 UniProtKB/TrEMBL
  ENST00000677246.1 UniProtKB/TrEMBL
Gene3D-CATH 3.40.930.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000164889 GTEx
HGNC ID HGNC:11028 ENTREZGENE
Human Proteome Map SLC4A2 Human Proteome Map
InterPro Anion_exchange UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Anion_exchange_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Anion_exchange_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Band3_cytoplasmic_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HCO3_transpt_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HCO3_transpt_euk UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTrfase/Anion_transptr UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6522 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 6522 ENTREZGENE
OMIM 109280 OMIM
PANTHER PTHR11453 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11453:SF14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Band_3_cyto UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HCO3_cotransp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35896 PharmGKB
PRINTS ANIONEXCHNGR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANIONEXHNGR2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HCO3TRNSPORT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANION_EXCHANGER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANION_EXCHANGER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55804 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs TIGR00834 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7I2V5T6_HUMAN UniProtKB/TrEMBL
  B3A2_HUMAN UniProtKB/Swiss-Prot
  C9J035_HUMAN UniProtKB/TrEMBL
  C9J459_HUMAN UniProtKB/TrEMBL
  C9J722_HUMAN UniProtKB/TrEMBL
  C9J9M9_HUMAN UniProtKB/TrEMBL
  C9JVC2_HUMAN UniProtKB/TrEMBL
  P04920 ENTREZGENE
  Q59GF1 ENTREZGENE, UniProtKB/TrEMBL
  Q6PJY3_HUMAN UniProtKB/TrEMBL
  Q8TAG3_HUMAN UniProtKB/TrEMBL
  Q969L3 ENTREZGENE
  Q99654_HUMAN UniProtKB/TrEMBL
  Q9UEY4_HUMAN UniProtKB/TrEMBL
  Q9UEY5_HUMAN UniProtKB/TrEMBL
  Q9UEY6_HUMAN UniProtKB/TrEMBL
UniProt Secondary B2R6T0 UniProtKB/Swiss-Prot
  B4DIT0 UniProtKB/Swiss-Prot
  D3DX05 UniProtKB/Swiss-Prot
  F8W682 UniProtKB/Swiss-Prot
  Q45EY5 UniProtKB/Swiss-Prot
  Q969L3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 SLC4A2  solute carrier family 4 member 2    solute carrier family 4 (anion exchanger), member 2  Symbol and/or name change 5135510 APPROVED
2013-07-23 SLC4A2  solute carrier family 4 (anion exchanger), member 2    solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)  Symbol and/or name change 5135510 APPROVED