COL4A4 (collagen type IV alpha 4 chain) - Rat Genome Database

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Gene: COL4A4 (collagen type IV alpha 4 chain) Homo sapiens
Analyze
Symbol: COL4A4
Name: collagen type IV alpha 4 chain
RGD ID: 1313332
HGNC Page HGNC:2206
Description: Enables molecular adaptor activity. An extracellular matrix structural constituent. Involved in glomerular basement membrane development. Located in basement membrane. Part of collagen type IV trimer. Implicated in autosomal recessive Alport syndrome; benign familial hematuria; and end stage renal disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ATS2; BFH; CA44; collagen alpha-4(IV) chain; Collagen IV, alpha-4 polypeptide; collagen of basement membrane, alpha-4 chain; collagen type IV alpha 4; collagen, type IV, alpha 4
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
GRCh382226,967,360 - 227,164,488 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2227,002,714 - 227,164,453 (-)EnsemblGRCh38hg38GRCh38
GRCh372227,867,430 - 228,028,921 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362227,575,671 - 227,737,519 (-)NCBINCBI36Build 36hg18NCBI36
Build 342227,695,432 - 227,854,780NCBI
Celera2221,636,952 - 221,798,798 (-)NCBICelera
Cytogenetic Map2q36.3NCBI
HuRef2219,710,854 - 219,872,782 (-)NCBIHuRef
CHM1_12227,873,296 - 228,035,468 (-)NCBICHM1_1
T2T-CHM13v2.02227,485,408 - 227,646,963 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome. Marcocci E, etal., Nephrol Dial Transplant. 2009 May;24(5):1464-71. doi: 10.1093/ndt/gfn681. Epub 2009 Jan 7.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis. Pierides A, etal., Nephrol Dial Transplant. 2009 Sep;24(9):2721-9. doi: 10.1093/ndt/gfp158. Epub 2009 Apr 8.
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1429714   PMID:1639407   PMID:1724753   PMID:2211832   PMID:2318822   PMID:2426947   PMID:3089234   PMID:3997552   PMID:6389236   PMID:6811420   PMID:6988303   PMID:7495302  
PMID:7500359   PMID:7523402   PMID:7827955   PMID:7962065   PMID:7987396   PMID:8006028   PMID:8253711   PMID:8365481   PMID:8787673   PMID:8995276   PMID:9136074   PMID:9195222  
PMID:9409248   PMID:9506531   PMID:9537506   PMID:9673377   PMID:9792860   PMID:9878537   PMID:10382266   PMID:10416788   PMID:11683410   PMID:11711546   PMID:11867580   PMID:12028435  
PMID:12180907   PMID:12225806   PMID:12325029   PMID:12477932   PMID:12631110   PMID:12768082   PMID:12878203   PMID:14507670   PMID:15280517   PMID:15880327   PMID:15954103   PMID:16235097  
PMID:16338941   PMID:16895672   PMID:16953426   PMID:16970251   PMID:17216251   PMID:17396119   PMID:17942953   PMID:18661361   PMID:18930919   PMID:19109975   PMID:19675380   PMID:20029656  
PMID:20237496   PMID:20301386   PMID:20379614   PMID:20452482   PMID:20664914   PMID:20673868   PMID:21873635   PMID:22199357   PMID:22610502   PMID:22723992   PMID:23551189   PMID:24033287  
PMID:24052634   PMID:24398087   PMID:24742657   PMID:25037231   PMID:25083577   PMID:25229338   PMID:25307543   PMID:25381091   PMID:25575550   PMID:25651396   PMID:25935259   PMID:26833262  
PMID:27281700   PMID:27469977   PMID:27576055   PMID:27859054   PMID:27934798   PMID:28542346   PMID:28632965   PMID:28674241   PMID:28704582   PMID:29669314   PMID:29742505   PMID:30021884  
PMID:30443360   PMID:30647093   PMID:31077021   PMID:31515789   PMID:32203420   PMID:32232700   PMID:33159707   PMID:33635378   PMID:33654185   PMID:33961781   PMID:34212557   PMID:35369551  


Genomics

Comparative Map Data
COL4A4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382226,967,360 - 227,164,488 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl2227,002,714 - 227,164,453 (-)EnsemblGRCh38hg38GRCh38
GRCh372227,867,430 - 228,028,921 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362227,575,671 - 227,737,519 (-)NCBINCBI36Build 36hg18NCBI36
Build 342227,695,432 - 227,854,780NCBI
Celera2221,636,952 - 221,798,798 (-)NCBICelera
Cytogenetic Map2q36.3NCBI
HuRef2219,710,854 - 219,872,782 (-)NCBIHuRef
CHM1_12227,873,296 - 228,035,468 (-)NCBICHM1_1
T2T-CHM13v2.02227,485,408 - 227,646,963 (-)NCBIT2T-CHM13v2.0
Col4a4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39182,426,140 - 82,564,570 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl182,426,144 - 82,564,570 (-)EnsemblGRCm39 Ensembl
GRCm38182,448,419 - 82,587,034 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl182,448,423 - 82,586,849 (-)EnsemblGRCm38mm10GRCm38
MGSCv37182,447,298 - 82,583,424 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36182,331,582 - 82,465,816 (-)NCBIMGSCv36mm8
Celera182,519,390 - 82,655,931 (-)NCBICelera
Cytogenetic Map1C5NCBI
Col4a4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2983,833,173 - 83,875,436 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl983,755,515 - 83,875,876 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx992,263,426 - 92,305,686 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.0997,391,909 - 97,434,165 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.0995,774,860 - 95,817,110 (-)NCBIRnor_WKY
Rnor_6.0988,314,763 - 88,357,183 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl988,232,455 - 88,357,182 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0988,062,426 - 88,104,120 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4981,866,835 - 81,910,088 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1982,050,254 - 82,093,507 (-)NCBI
Celera981,276,510 - 81,318,343 (-)NCBICelera
Cytogenetic Map9q34NCBI
Col4a4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554537,420,203 - 7,520,200 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554537,405,167 - 7,524,038 (+)NCBIChiLan1.0ChiLan1.0
COL4A4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12B233,061,067 - 233,222,541 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B233,065,678 - 233,205,892 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02B114,227,135 - 114,410,564 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
COL4A4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12539,849,680 - 39,976,035 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2539,854,388 - 39,976,189 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2540,472,320 - 40,576,418 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02540,097,773 - 40,223,035 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2540,102,484 - 40,205,769 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12540,038,958 - 40,143,270 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02539,873,785 - 39,983,389 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02540,052,828 - 40,157,117 (-)NCBIUU_Cfam_GSD_1.0
Col4a4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303182,032,869 - 182,171,485 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365258,788,753 - 8,899,671 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COL4A4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15128,476,257 - 128,595,477 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115128,472,228 - 128,612,302 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215142,283,500 - 142,421,620 (-)NCBISscrofa10.2Sscrofa10.2susScr3
COL4A4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110113,028,552 - 113,183,240 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10113,028,552 - 113,165,958 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604086,269,741 - 86,423,511 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Col4a4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248431,364,674 - 1,486,250 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248431,364,674 - 1,486,813 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COL4A4
1524 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1788
Count of miRNA genes:957
Interacting mature miRNAs:1111
Transcripts:ENST00000329662, ENST00000396625
Prediction methods:Miranda, Rnahybrid
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.

Markers in Region
WI-18252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,871,554 - 227,871,661UniSTSGRCh37
Build 362227,579,798 - 227,579,905RGDNCBI36
Celera2221,641,079 - 221,641,186RGD
Cytogenetic Map2q35-q37UniSTS
HuRef2219,714,981 - 219,715,088UniSTS
GeneMap99-GB4 RH Map2703.74UniSTS
Whitehead-RH Map21049.1UniSTS
NCBI RH Map21840.8UniSTS
RH122542  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,973,491 - 227,973,761UniSTSGRCh37
Build 362227,681,735 - 227,682,005RGDNCBI36
Celera2221,743,009 - 221,743,279RGD
Cytogenetic Map2q35-q37UniSTS
HuRef2219,817,003 - 219,817,273UniSTS
TNG Radiation Hybrid Map2125032.0UniSTS
G62550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372228,020,048 - 228,020,332UniSTSGRCh37
Build 362227,728,292 - 227,728,576RGDNCBI36
Celera2221,789,570 - 221,789,854RGD
Cytogenetic Map2q35-q37UniSTS
HuRef2219,863,554 - 219,863,838UniSTS
TNG Radiation Hybrid Map2125057.0UniSTS
COL4A4_544.2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,869,844 - 227,870,619UniSTSGRCh37
Build 362227,578,088 - 227,578,863RGDNCBI36
Celera2221,639,369 - 221,640,144RGD
HuRef2219,713,271 - 219,714,046UniSTS
RH70415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,867,506 - 227,867,689UniSTSGRCh37
Build 362227,575,750 - 227,575,933RGDNCBI36
Celera2221,637,031 - 221,637,214RGD
Cytogenetic Map2q35-q37UniSTS
HuRef2219,710,933 - 219,711,116UniSTS
GeneMap99-GB4 RH Map2703.84UniSTS
NCBI RH Map21840.8UniSTS
WI-7328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,870,865 - 227,871,216UniSTSGRCh37
Build 362227,579,109 - 227,579,460RGDNCBI36
Celera2221,640,390 - 221,640,741RGD
Cytogenetic Map2q35-q37UniSTS
HuRef2219,714,292 - 219,714,643UniSTS
Whitehead-YAC Contig Map2 UniSTS
SHGC-33680  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,867,485 - 227,867,585UniSTSGRCh37
Build 362227,575,729 - 227,575,829RGDNCBI36
Celera2221,637,010 - 221,637,110RGD
Cytogenetic Map2q35-q37UniSTS
HuRef2219,710,912 - 219,711,012UniSTS
TNG Radiation Hybrid Map2124959.0UniSTS
Stanford-G3 RH Map28760.0UniSTS
GeneMap99-GB4 RH Map2703.74UniSTS
Whitehead-RH Map21049.1UniSTS
NCBI RH Map21840.8UniSTS
GeneMap99-G3 RH Map29599.0UniSTS


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 pharyngeal arch
High
Medium 77 775 1019 6 157 8 61 93 251 166 149 940 1 9 49
Low 2104 1442 566 475 938 329 3231 2047 2873 222 1145 591 150 1 968 2330 2 2
Below cutoff 197 762 123 131 779 116 1043 36 574 29 158 68 22 227 409 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007069255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_922837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA831056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB008496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC079235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF218541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX094848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D17391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L01475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L01476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X81053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17403 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17427 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17431 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17432 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y17443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000396625   ⟹   ENSP00000379866
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,002,714 - 227,164,205 (-)Ensembl
RefSeq Acc Id: ENST00000643379   ⟹   ENSP00000494516
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,102,831 - 227,164,453 (-)Ensembl
RefSeq Acc Id: ENST00000682098   ⟹   ENSP00000508331
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,007,325 - 227,010,501 (-)Ensembl
RefSeq Acc Id: ENST00000682248
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,107,752 - 227,147,584 (-)Ensembl
RefSeq Acc Id: ENST00000682548
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,113,517 - 227,147,584 (-)Ensembl
RefSeq Acc Id: ENST00000683508   ⟹   ENSP00000506932
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,144,362 - 227,147,572 (-)Ensembl
RefSeq Acc Id: ENST00000684257
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,107,750 - 227,147,572 (-)Ensembl
RefSeq Acc Id: ENST00000684524   ⟹   ENSP00000506950
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2227,144,362 - 227,147,572 (-)Ensembl
RefSeq Acc Id: NM_000092   ⟹   NP_000083
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,002,714 - 227,164,205 (-)NCBI
GRCh372227,867,427 - 228,029,275 (-)ENTREZGENE
GRCh372227,867,427 - 228,029,275 (-)NCBI
Build 362227,575,671 - 227,737,519 (-)NCBI Archive
HuRef2219,710,854 - 219,872,782 (-)ENTREZGENE
CHM1_12227,873,296 - 228,035,468 (-)NCBI
T2T-CHM13v2.02227,485,408 - 227,646,963 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005246281   ⟹   XP_005246338
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,002,714 - 227,164,488 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005246282   ⟹   XP_005246339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,002,714 - 227,164,205 (-)NCBI
GRCh372227,867,427 - 228,029,275 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006712246   ⟹   XP_006712309
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,002,714 - 227,164,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510557   ⟹   XP_011508859
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,002,714 - 227,164,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510558   ⟹   XP_011508860
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,002,714 - 227,164,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510559   ⟹   XP_011508861
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,979,314 - 227,164,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510560   ⟹   XP_011508862
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,979,314 - 227,164,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510561   ⟹   XP_011508863
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,979,314 - 227,164,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510562   ⟹   XP_011508864
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,967,360 - 227,164,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510565   ⟹   XP_011508867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,967,360 - 227,164,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510566   ⟹   XP_011508868
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,979,314 - 227,164,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510567   ⟹   XP_011508869
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,979,314 - 227,164,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510568   ⟹   XP_011508870
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,012,218 - 227,164,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510569   ⟹   XP_011508871
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,979,314 - 227,164,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510570   ⟹   XP_011508872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,967,360 - 227,164,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510572   ⟹   XP_011508874
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,002,714 - 227,086,147 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003297   ⟹   XP_016858786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,002,714 - 227,164,205 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047443228   ⟹   XP_047299184
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,002,714 - 227,164,488 (-)NCBI
RefSeq Acc Id: XM_047443241   ⟹   XP_047299197
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,979,314 - 227,164,205 (-)NCBI
RefSeq Acc Id: XM_047443242   ⟹   XP_047299198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,979,314 - 227,164,205 (-)NCBI
RefSeq Acc Id: XM_047443245   ⟹   XP_047299201
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,978,987 - 227,164,205 (-)NCBI
RefSeq Acc Id: XM_047443246   ⟹   XP_047299202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382227,007,466 - 227,164,205 (-)NCBI
RefSeq Acc Id: XM_047443248   ⟹   XP_047299204
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,979,314 - 227,164,205 (-)NCBI
RefSeq Acc Id: XM_047443249   ⟹   XP_047299205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,979,314 - 227,164,205 (-)NCBI
RefSeq Acc Id: XM_047443250   ⟹   XP_047299206
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,978,987 - 227,164,205 (-)NCBI
RefSeq Acc Id: XR_001738602
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,979,314 - 227,164,205 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007069255
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,979,314 - 227,164,205 (-)NCBI
RefSeq Acc Id: XR_922837
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,979,314 - 227,164,205 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000083 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246338 (Get FASTA)   NCBI Sequence Viewer  
  XP_005246339 (Get FASTA)   NCBI Sequence Viewer  
  XP_006712309 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508859 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508860 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508861 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508862 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508863 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508864 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508867 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508868 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508869 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508870 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508871 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508872 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508874 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858786 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299184 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299197 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299198 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299201 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299202 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299204 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299205 (Get FASTA)   NCBI Sequence Viewer  
  XP_047299206 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAY14670 (Get FASTA)   NCBI Sequence Viewer  
  AAY24061 (Get FASTA)   NCBI Sequence Viewer  
  BAA04214 (Get FASTA)   NCBI Sequence Viewer  
  BAA25065 (Get FASTA)   NCBI Sequence Viewer  
  CAA56943 (Get FASTA)   NCBI Sequence Viewer  
  CAA76763 (Get FASTA)   NCBI Sequence Viewer  
  EAW70845 (Get FASTA)   NCBI Sequence Viewer  
  EAW70846 (Get FASTA)   NCBI Sequence Viewer  
  EAW70847 (Get FASTA)   NCBI Sequence Viewer  
  P53420 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000083   ⟸   NM_000092
- Peptide Label: precursor
- UniProtKB: Q53WR1 (UniProtKB/Swiss-Prot),   P53420 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005246338   ⟸   XM_005246281
- Peptide Label: isoform X1
- UniProtKB: Q53WR1 (UniProtKB/Swiss-Prot),   P53420 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005246339   ⟸   XM_005246282
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_006712309   ⟸   XM_006712246
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_011508867   ⟸   XM_011510565
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011508872   ⟸   XM_011510570
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_011508864   ⟸   XM_011510562
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011508871   ⟸   XM_011510569
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_011508863   ⟸   XM_011510561
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_011508869   ⟸   XM_011510567
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011508868   ⟸   XM_011510566
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_011508861   ⟸   XM_011510559
- Peptide Label: isoform X6
- Sequence: