TRPC4AP (transient receptor potential cation channel subfamily C member 4 associated protein) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: TRPC4AP (transient receptor potential cation channel subfamily C member 4 associated protein) Homo sapiens
Analyze
Symbol: TRPC4AP
Name: transient receptor potential cation channel subfamily C member 4 associated protein
RGD ID: 1320513
HGNC Page HGNC:16181
Description: Enables phosphatase binding activity and ubiquitin ligase-substrate adaptor activity. Involved in protein ubiquitination and ubiquitin-dependent protein catabolic process via the C-end degron rule pathway. Part of Cul4A-RING E3 ubiquitin ligase complex. Is active in Cul4-RING E3 ubiquitin ligase complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C20orf188; PPP1R158; short transient receptor potential channel 4 associated protein; short transient receptor potential channel 4-associated protein; TNF-receptor ubiquitous scaffolding/signaling protein; TRP4-associated protein; trpc4-associated protein; TRRP4AP; TRUSS; tumor necrosis factor receptor-associated ubiquitous scaffolding and signaling protein
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
GRCh382035,002,404 - 35,092,807 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2035,002,404 - 35,092,807 (-)EnsemblGRCh38hg38GRCh38
GRCh372033,590,207 - 33,680,610 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362033,053,868 - 33,144,279 (-)NCBINCBI36Build 36hg18NCBI36
Celera2030,339,293 - 30,429,447 (-)NCBICelera
Cytogenetic Map20q11.22NCBI
HuRef2030,368,536 - 30,458,590 (-)NCBIHuRef
CHM1_12033,491,389 - 33,581,552 (-)NCBICHM1_1
T2T-CHM13v2.02036,717,007 - 36,813,143 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8619474   PMID:8889548   PMID:9110174   PMID:11133832   PMID:11532960   PMID:11780052   PMID:12047747   PMID:12477932   PMID:12693554   PMID:14585990   PMID:15489334   PMID:16730941  
PMID:16876162   PMID:16964240   PMID:18449908   PMID:19059308   PMID:19389623   PMID:20360068   PMID:20458742   PMID:20551172   PMID:21145461   PMID:21873635   PMID:21900206   PMID:22199357  
PMID:22703881   PMID:26038816   PMID:26186194   PMID:26496610   PMID:27173435   PMID:28514442   PMID:28581483   PMID:28611215   PMID:28675297   PMID:29117863   PMID:29704259   PMID:29779948  
PMID:29987050   PMID:30745168   PMID:30945288   PMID:31182584   PMID:31950832   PMID:31973889   PMID:32428920   PMID:32513696   PMID:32707033   PMID:32889079   PMID:33961781   PMID:35271311  
PMID:37689310  


Genomics

Comparative Map Data
TRPC4AP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382035,002,404 - 35,092,807 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2035,002,404 - 35,092,807 (-)EnsemblGRCh38hg38GRCh38
GRCh372033,590,207 - 33,680,610 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362033,053,868 - 33,144,279 (-)NCBINCBI36Build 36hg18NCBI36
Celera2030,339,293 - 30,429,447 (-)NCBICelera
Cytogenetic Map20q11.22NCBI
HuRef2030,368,536 - 30,458,590 (-)NCBIHuRef
CHM1_12033,491,389 - 33,581,552 (-)NCBICHM1_1
T2T-CHM13v2.02036,717,007 - 36,813,143 (-)NCBIT2T-CHM13v2.0
Trpc4ap
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392155,476,197 - 155,534,304 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl2155,476,191 - 155,534,304 (-)EnsemblGRCm39 Ensembl
GRCm382155,634,277 - 155,692,384 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2155,634,271 - 155,692,384 (-)EnsemblGRCm38mm10GRCm38
MGSCv372155,460,013 - 155,518,120 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv362155,325,749 - 155,383,773 (-)NCBIMGSCv36mm8
Celera2161,566,542 - 161,624,663 (-)NCBICelera
Cytogenetic Map2H1NCBI
cM Map277.26NCBI
Trpc4ap
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr83164,582,146 - 164,653,123 (-)NCBIGRCr8
mRatBN7.23144,122,003 - 144,192,986 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl3144,122,003 - 144,192,986 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx3147,988,304 - 148,059,284 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.03156,605,584 - 156,676,566 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.03154,345,122 - 154,416,061 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.03151,150,396 - 151,224,123 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3151,150,396 - 151,224,123 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03157,518,203 - 157,588,962 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43146,139,493 - 146,206,625 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.13146,045,105 - 146,112,244 (-)NCBI
Celera3142,846,195 - 142,917,255 (-)NCBICelera
Cytogenetic Map3q42NCBI
Trpc4ap
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542226,301,464 - 26,386,007 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542226,301,937 - 26,383,464 (+)NCBIChiLan1.0ChiLan1.0
TRPC4AP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22140,735,344 - 40,826,296 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12040,728,447 - 40,819,400 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02031,330,860 - 31,420,662 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12032,455,536 - 32,545,780 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2032,455,536 - 32,545,780 (-)Ensemblpanpan1.1panPan2
TRPC4AP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12424,041,023 - 24,109,927 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2424,041,550 - 24,109,904 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2423,687,058 - 23,756,260 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02424,732,981 - 24,802,322 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2424,732,983 - 24,802,208 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12424,020,060 - 24,089,441 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02424,115,489 - 24,184,767 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02424,554,407 - 24,623,463 (-)NCBIUU_Cfam_GSD_1.0
Trpc4ap
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640173,028,172 - 173,107,284 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365615,642,249 - 5,721,377 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365615,642,265 - 5,721,377 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRPC4AP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1738,385,653 - 38,468,295 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11738,385,650 - 38,468,290 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21743,582,681 - 43,665,530 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TRPC4AP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1239,304,240 - 39,391,447 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl239,305,203 - 39,391,418 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605087,420,710 - 87,508,627 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trpc4ap
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248424,316,578 - 4,395,792 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248424,317,710 - 4,395,792 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRPC4AP
39 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20q11.22-12(chr20:34541747-39663219)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052766]|See cases [RCV000052766] Chr20:34541747..39663219 [GRCh38]
Chr20:33129551..38291861 [GRCh37]
Chr20:32593212..37725275 [NCBI36]
Chr20:20q11.22-12		 pathogenic
GRCh38/hg38 20q11.22-13.11(chr20:34249453-43359749)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053002]|See cases [RCV000053002] Chr20:34249453..43359749 [GRCh38]
Chr20:32837259..41988389 [GRCh37]
Chr20:32300920..41421803 [NCBI36]
Chr20:20q11.22-13.11		 pathogenic
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 copy number gain See cases [RCV000052999] Chr20:9811433..39316956 [GRCh38]
Chr20:9792081..37945599 [GRCh37]
Chr20:9740081..37379013 [NCBI36]
Chr20:20p12.2-q12		 pathogenic
NM_015638.2(TRPC4AP):c.190G>A (p.Glu64Lys) single nucleotide variant Malignant melanoma [RCV000063719] Chr20:35078153 [GRCh38]
Chr20:33665956 [GRCh37]
Chr20:33129617 [NCBI36]
Chr20:20q11.22		 not provided
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1 copy number loss See cases [RCV000135440] Chr20:33432363..36821881 [GRCh38]
Chr20:32020169..35450284 [GRCh37]
Chr20:31483830..34883698 [NCBI36]
Chr20:20q11.21-11.23		 pathogenic
GRCh38/hg38 20q11.22(chr20:35051855-35438457)x1 copy number loss See cases [RCV000141041] Chr20:35051855..35438457 [GRCh38]
Chr20:33639658..34026249 [GRCh37]
Chr20:33103319..33489663 [NCBI36]
Chr20:20q11.22		 likely pathogenic
GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3 copy number gain See cases [RCV000141833] Chr20:32062768..35906606 [GRCh38]
Chr20:30650571..34494528 [GRCh37]
Chr20:30114232..33957942 [NCBI36]
Chr20:20q11.21-11.23		 pathogenic
NM_015638.3(TRPC4AP):c.157C>T (p.Arg53Trp) single nucleotide variant Inborn genetic diseases [RCV003243782] Chr20:35092625 [GRCh38]
Chr20:33680428 [GRCh37]
Chr20:20q11.22		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NC_000020.10:g.(?_31996293)_(33761838_?)del deletion Long QT syndrome [RCV000708204] Chr20:31996293..33761838 [GRCh37]
Chr20:20q11.21-11.22		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q11.22(chr20:33624466-33652964)x1 copy number loss not provided [RCV000741183] Chr20:33624466..33652964 [GRCh37]
Chr20:20q11.22		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 copy number gain not provided [RCV000849735] Chr20:29833608..35087952 [GRCh37]
Chr20:20q11.21-11.23		 pathogenic
NM_015638.3(TRPC4AP):c.2338G>A (p.Val780Ile) single nucleotide variant Inborn genetic diseases [RCV003270120] Chr20:35003202 [GRCh38]
Chr20:33591005 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.167A>G (p.Gln56Arg) single nucleotide variant Inborn genetic diseases [RCV003273253] Chr20:35092615 [GRCh38]
Chr20:33680418 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.5C>T (p.Ala2Val) single nucleotide variant Inborn genetic diseases [RCV002989890] Chr20:35092777 [GRCh38]
Chr20:33680580 [GRCh37]
Chr20:20q11.22		 uncertain significance
NC_000020.10:g.(?_31996293)_(33761838_?)del deletion Long QT syndrome [RCV001300227] Chr20:31996293..33761838 [GRCh37]
Chr20:20q11.21-11.22		 uncertain significance
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3 copy number gain not provided [RCV001829151] Chr20:18665879..33903216 [GRCh37]
Chr20:20p11.23-q11.22		 likely pathogenic
GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550) copy number gain not specified [RCV002052709] Chr20:25442597..33761550 [GRCh37]
Chr20:20p11.21-q11.22		 pathogenic
NC_000020.10:g.(?_31189994)_(34287210_?)del deletion not provided [RCV001956104] Chr20:31189994..34287210 [GRCh37]
Chr20:20q11.21-11.22		 pathogenic
GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3 copy number gain not provided [RCV002474532] Chr20:29833535..34815537 [GRCh37]
Chr20:20q11.21-11.23		 likely pathogenic
NM_015638.3(TRPC4AP):c.68C>T (p.Ala23Val) single nucleotide variant Inborn genetic diseases [RCV002773296] Chr20:35092714 [GRCh38]
Chr20:33680517 [GRCh37]
Chr20:20q11.22		 uncertain significance
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 copy number gain not provided [RCV002475651] Chr20:29652122..35603726 [GRCh37]
Chr20:20q11.21-11.23		 likely pathogenic
NM_015638.3(TRPC4AP):c.1136T>C (p.Met379Thr) single nucleotide variant Inborn genetic diseases [RCV002990679] Chr20:35021272 [GRCh38]
Chr20:33609075 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.938C>T (p.Thr313Met) single nucleotide variant Inborn genetic diseases [RCV002689960] Chr20:35035236 [GRCh38]
Chr20:33623039 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.728C>G (p.Ala243Gly) single nucleotide variant Inborn genetic diseases [RCV002818173] Chr20:35044642 [GRCh38]
Chr20:33632445 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.173C>T (p.Thr58Ile) single nucleotide variant Inborn genetic diseases [RCV002907499] Chr20:35078170 [GRCh38]
Chr20:33665973 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.1994A>G (p.Gln665Arg) single nucleotide variant Inborn genetic diseases [RCV002840485] Chr20:35004513 [GRCh38]
Chr20:33592316 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.836T>C (p.Leu279Ser) single nucleotide variant Inborn genetic diseases [RCV002778266] Chr20:35044534 [GRCh38]
Chr20:33632337 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.158G>T (p.Arg53Leu) single nucleotide variant Inborn genetic diseases [RCV002849499] Chr20:35092624 [GRCh38]
Chr20:33680427 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.1059T>G (p.Ile353Met) single nucleotide variant Inborn genetic diseases [RCV002848733] Chr20:35021349 [GRCh38]
Chr20:33609152 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.1718G>C (p.Cys573Ser) single nucleotide variant Inborn genetic diseases [RCV002887281] Chr20:35006544 [GRCh38]
Chr20:33594347 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.393T>G (p.Phe131Leu) single nucleotide variant Inborn genetic diseases [RCV002804574] Chr20:35069317 [GRCh38]
Chr20:33657120 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.1975A>G (p.Ile659Val) single nucleotide variant Inborn genetic diseases [RCV002698370] Chr20:35004532 [GRCh38]
Chr20:33592335 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.1106C>T (p.Thr369Met) single nucleotide variant Inborn genetic diseases [RCV002699493] Chr20:35021302 [GRCh38]
Chr20:33609105 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.161C>A (p.Ala54Glu) single nucleotide variant Inborn genetic diseases [RCV002955458] Chr20:35092621 [GRCh38]
Chr20:33680424 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.1204C>T (p.Arg402Cys) single nucleotide variant Inborn genetic diseases [RCV002983271] Chr20:35021204 [GRCh38]
Chr20:33609007 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.451A>C (p.Ile151Leu) single nucleotide variant Inborn genetic diseases [RCV002916816] Chr20:35057535 [GRCh38]
Chr20:33645338 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.552G>C (p.Leu184Phe) single nucleotide variant Inborn genetic diseases [RCV002718674] Chr20:35049971 [GRCh38]
Chr20:33637774 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.47G>C (p.Arg16Thr) single nucleotide variant Inborn genetic diseases [RCV002714590] Chr20:35092735 [GRCh38]
Chr20:33680538 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.1135A>G (p.Met379Val) single nucleotide variant Inborn genetic diseases [RCV002934599] Chr20:35021273 [GRCh38]
Chr20:33609076 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.40C>G (p.Arg14Gly) single nucleotide variant Inborn genetic diseases [RCV002964328] Chr20:35092742 [GRCh38]
Chr20:33680545 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.1507G>A (p.Asp503Asn) single nucleotide variant Inborn genetic diseases [RCV002722756] Chr20:35010191 [GRCh38]
Chr20:33597994 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.1961G>A (p.Arg654His) single nucleotide variant Inborn genetic diseases [RCV003203023] Chr20:35004546 [GRCh38]
Chr20:33592349 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.794C>T (p.Thr265Met) single nucleotide variant Inborn genetic diseases [RCV003284405] Chr20:35044576 [GRCh38]
Chr20:33632379 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.1800C>G (p.Phe600Leu) single nucleotide variant Inborn genetic diseases [RCV003175839] Chr20:35006462 [GRCh38]
Chr20:33594265 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.743T>C (p.Ile248Thr) single nucleotide variant Inborn genetic diseases [RCV003220803] Chr20:35044627 [GRCh38]
Chr20:33632430 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.29C>G (p.Ser10Cys) single nucleotide variant Inborn genetic diseases [RCV003211755] Chr20:35092753 [GRCh38]
Chr20:33680556 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.1149T>G (p.His383Gln) single nucleotide variant Inborn genetic diseases [RCV003262636] Chr20:35021259 [GRCh38]
Chr20:33609062 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.350G>C (p.Arg117Thr) single nucleotide variant Inborn genetic diseases [RCV003384963] Chr20:35069360 [GRCh38]
Chr20:33657163 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.2269A>C (p.Ser757Arg) single nucleotide variant Inborn genetic diseases [RCV003374580] Chr20:35003271 [GRCh38]
Chr20:33591074 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.1148A>T (p.His383Leu) single nucleotide variant Inborn genetic diseases [RCV003366465] Chr20:35021260 [GRCh38]
Chr20:33609063 [GRCh37]
Chr20:20q11.22		 uncertain significance
NM_015638.3(TRPC4AP):c.177G>A (p.Glu59=) single nucleotide variant not provided [RCV003440373] Chr20:35078166 [GRCh38]
Chr20:33665969 [GRCh37]
Chr20:20q11.22		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1819
Count of miRNA genes:551
Interacting mature miRNAs:612
Transcripts:ENST00000252015, ENST00000432634, ENST00000451813, ENST00000539834
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
SHGC-32905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372033,637,074 - 33,637,222UniSTSGRCh37
Build 362033,100,735 - 33,100,883RGDNCBI36
Celera2030,385,854 - 30,386,002RGD
Cytogenetic Map20q11.22UniSTS
HuRef2030,415,029 - 30,415,177UniSTS
RH15946  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372033,590,267 - 33,590,445UniSTSGRCh37
Build 362033,053,928 - 33,054,106RGDNCBI36
Celera2030,339,353 - 30,339,531RGD
Cytogenetic Map20q11.22UniSTS
HuRef2030,368,596 - 30,368,774UniSTS
GeneMap99-GB4 RH Map20200.06UniSTS
NCBI RH Map20299.8UniSTS
G54056  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372033,590,267 - 33,590,435UniSTSGRCh37
Build 362033,053,928 - 33,054,096RGDNCBI36
Celera2030,339,353 - 30,339,521RGD
Cytogenetic Map20q11.22UniSTS
HuRef2030,368,596 - 30,368,764UniSTS
RH66097  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372033,637,392 - 33,637,623UniSTSGRCh37
Build 362033,101,053 - 33,101,284RGDNCBI36
Celera2030,386,177 - 30,386,408RGD
Cytogenetic Map20q11.22UniSTS
HuRef2030,415,352 - 30,415,583UniSTS
GeneMap99-GB4 RH Map20197.2UniSTS
D20S545E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372033,591,000 - 33,591,245UniSTSGRCh37
Build 362033,054,661 - 33,054,906RGDNCBI36
Celera2030,340,086 - 30,340,332RGD
Cytogenetic Map20q11.22UniSTS
HuRef2030,369,329 - 30,369,575UniSTS
GeneMap99-GB4 RH Map20200.16UniSTS
Z94466  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372033,611,372 - 33,611,530UniSTSGRCh37
Build 362033,075,033 - 33,075,191RGDNCBI36
Celera2030,360,459 - 30,360,617RGD
Cytogenetic Map20q11.22UniSTS
HuRef2030,389,702 - 30,389,860UniSTS
D20S786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372033,657,827 - 33,657,955UniSTSGRCh37
Build 362033,121,488 - 33,121,616RGDNCBI36
Celera2030,406,620 - 30,406,748RGD
Cytogenetic Map20q11.22UniSTS
HuRef2030,435,782 - 30,435,910UniSTS
Stanford-G3 RH Map201866.0UniSTS
D18S1331  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372033,642,035 - 33,642,168UniSTSGRCh37
Build 362033,105,696 - 33,105,829RGDNCBI36
Celera2030,390,819 - 30,390,952RGD
Cytogenetic Map20q11.22UniSTS
HuRef2030,419,996 - 30,420,129UniSTS
D20S814  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372033,658,009 - 33,658,170UniSTSGRCh37
Build 362033,121,670 - 33,121,831RGDNCBI36
Celera2030,406,802 - 30,406,963RGD
Cytogenetic Map20q11.22UniSTS
HuRef2030,435,964 - 30,436,125UniSTS


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 2432 2943 1722 621 1938 463 4355 2162 3668 417 1448 1608 171 1204 2788 4
Low 6 45 4 3 13 2 1 34 65 2 11 4 4 1 1 2
Below cutoff 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_015638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047440102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054323345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001754238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_936517 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF055022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK298958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL117480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL132825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI488542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM149369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM723903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF125531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF584023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000252015   ⟹   ENSP00000252015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2035,002,404 - 35,092,807 (-)Ensembl
RefSeq Acc Id: ENST00000451813   ⟹   ENSP00000400614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2035,002,404 - 35,092,807 (-)Ensembl
RefSeq Acc Id: NM_015638   ⟹   NP_056453
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382035,002,404 - 35,092,807 (-)NCBI
GRCh372033,590,207 - 33,680,618 (-)RGD
Build 362033,053,868 - 33,144,279 (-)NCBI Archive
Celera2030,339,293 - 30,429,447 (-)RGD
HuRef2030,368,536 - 30,458,590 (-)ENTREZGENE
CHM1_12033,491,389 - 33,581,552 (-)NCBI
T2T-CHM13v2.02036,723,041 - 36,813,143 (-)NCBI
Sequence:
RefSeq Acc Id: NM_199368   ⟹   NP_955400
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382035,002,404 - 35,092,807 (-)NCBI
GRCh372033,590,207 - 33,680,618 (-)RGD
Build 362033,053,868 - 33,144,279 (-)NCBI Archive
Celera2030,339,293 - 30,429,447 (-)RGD
HuRef2030,368,536 - 30,458,590 (-)ENTREZGENE
CHM1_12033,491,389 - 33,581,552 (-)NCBI
T2T-CHM13v2.02036,723,041 - 36,813,143 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017027799   ⟹   XP_016883288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382035,004,057 - 35,092,807 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047440095   ⟹   XP_047296051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382035,002,404 - 35,092,807 (-)NCBI
RefSeq Acc Id: XM_047440096   ⟹   XP_047296052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382035,002,404 - 35,092,807 (-)NCBI
RefSeq Acc Id: XM_047440097   ⟹   XP_047296053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382035,003,873 - 35,092,807 (-)NCBI
RefSeq Acc Id: XM_047440098   ⟹   XP_047296054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382035,003,873 - 35,092,807 (-)NCBI
RefSeq Acc Id: XM_047440099   ⟹   XP_047296055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382035,007,648 - 35,092,807 (-)NCBI
RefSeq Acc Id: XM_047440100   ⟹   XP_047296056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382035,009,059 - 35,092,807 (-)NCBI
RefSeq Acc Id: XM_047440101   ⟹   XP_047296057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382035,002,404 - 35,049,932 (-)NCBI
RefSeq Acc Id: XM_047440102   ⟹   XP_047296058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382035,002,404 - 35,049,932 (-)NCBI
RefSeq Acc Id: XM_054323337   ⟹   XP_054179312
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02036,723,041 - 36,813,143 (-)NCBI
RefSeq Acc Id: XM_054323338   ⟹   XP_054179313
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02036,723,041 - 36,813,143 (-)NCBI
RefSeq Acc Id: XM_054323339   ⟹   XP_054179314
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02036,724,695 - 36,813,143 (-)NCBI
RefSeq Acc Id: XM_054323340   ⟹   XP_054179315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02036,724,511 - 36,813,143 (-)NCBI
RefSeq Acc Id: XM_054323341   ⟹   XP_054179316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02036,724,511 - 36,813,143 (-)NCBI
RefSeq Acc Id: XM_054323342   ⟹   XP_054179317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02036,728,286 - 36,813,143 (-)NCBI
RefSeq Acc Id: XM_054323343   ⟹   XP_054179318
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02036,729,697 - 36,813,143 (-)NCBI
RefSeq Acc Id: XM_054323344   ⟹   XP_054179319
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02036,723,041 - 36,770,270 (-)NCBI
RefSeq Acc Id: XM_054323345   ⟹   XP_054179320
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02036,723,041 - 36,770,270 (-)NCBI
RefSeq Acc Id: XR_008485250
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02036,717,007 - 36,813,143 (-)NCBI
Protein Sequences
Protein RefSeqs NP_056453 (Get FASTA)   NCBI Sequence Viewer  
  NP_955400 (Get FASTA)   NCBI Sequence Viewer  
  XP_016883288 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296051 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296052 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296053 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296054 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296055 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296056 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296057 (Get FASTA)   NCBI Sequence Viewer  
  XP_047296058 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179312 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179313 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179314 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179315 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179316 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179317 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179318 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179319 (Get FASTA)   NCBI Sequence Viewer  
  XP_054179320 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH01323 (Get FASTA)   NCBI Sequence Viewer  
  AAH08836 (Get FASTA)   NCBI Sequence Viewer  
  AAH13144 (Get FASTA)   NCBI Sequence Viewer  
  BAB84932 (Get FASTA)   NCBI Sequence Viewer  
  BAG37955 (Get FASTA)   NCBI Sequence Viewer  
  BAG61054 (Get FASTA)   NCBI Sequence Viewer  
  BAG62910 (Get FASTA)   NCBI Sequence Viewer  
  BAG64513 (Get FASTA)   NCBI Sequence Viewer  
  CAB55953 (Get FASTA)   NCBI Sequence Viewer  
  CCQ43520 (Get FASTA)   NCBI Sequence Viewer  
  EAW76229 (Get FASTA)   NCBI Sequence Viewer  
  EAW76230 (Get FASTA)   NCBI Sequence Viewer  
  EAW76231 (Get FASTA)   NCBI Sequence Viewer  
  EAW76232 (Get FASTA)   NCBI Sequence Viewer  
  EAW76233 (Get FASTA)   NCBI Sequence Viewer  
  EAW76234 (Get FASTA)   NCBI Sequence Viewer  
  EAW76235 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000252015
  ENSP00000252015.2
  ENSP00000400614
  ENSP00000400614.1
GenBank Protein Q8TEL6 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_056453   ⟸   NM_015638
- Peptide Label: isoform a
- UniProtKB: Q9H429 (UniProtKB/Swiss-Prot),   Q9BVB8 (UniProtKB/Swiss-Prot),   Q96H82 (UniProtKB/Swiss-Prot),   E1P5Q1 (UniProtKB/Swiss-Prot),   E1P5Q0 (UniProtKB/Swiss-Prot),   Q9UFS6 (UniProtKB/Swiss-Prot),   Q8TEL6 (UniProtKB/Swiss-Prot),   B2RDK8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_955400   ⟸   NM_199368
- Peptide Label: isoform b
- UniProtKB: B2RDK8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016883288   ⟸   XM_017027799
- Peptide Label: isoform X3
- UniProtKB: B2RDK8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000252015   ⟸   ENST00000252015
RefSeq Acc Id: ENSP00000400614   ⟸   ENST00000451813
RefSeq Acc Id: XP_047296052   ⟸   XM_047440096
- Peptide Label: isoform X2
- UniProtKB: B2RDK8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296051   ⟸   XM_047440095
- Peptide Label: isoform X1
- UniProtKB: Q9H429 (UniProtKB/Swiss-Prot),   Q9BVB8 (UniProtKB/Swiss-Prot),   Q96H82 (UniProtKB/Swiss-Prot),   Q8TEL6 (UniProtKB/Swiss-Prot),   E1P5Q1 (UniProtKB/Swiss-Prot),   E1P5Q0 (UniProtKB/Swiss-Prot),   Q9UFS6 (UniProtKB/Swiss-Prot),   B2RDK8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296058   ⟸   XM_047440102
- Peptide Label: isoform X9
- UniProtKB: B4DW48 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296057   ⟸   XM_047440101
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047296054   ⟸   XM_047440098
- Peptide Label: isoform X5
- UniProtKB: B2RDK8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296053   ⟸   XM_047440097
- Peptide Label: isoform X4
- UniProtKB: B2RDK8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047296055   ⟸   XM_047440099
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047296056   ⟸   XM_047440100
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054179313   ⟸   XM_054323338
- Peptide Label: isoform X2
- UniProtKB: B2RDK8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179312   ⟸   XM_054323337
- Peptide Label: isoform X1
- UniProtKB: Q9H429 (UniProtKB/Swiss-Prot),   Q9BVB8 (UniProtKB/Swiss-Prot),   Q96H82 (UniProtKB/Swiss-Prot),   Q8TEL6 (UniProtKB/Swiss-Prot),   E1P5Q1 (UniProtKB/Swiss-Prot),   E1P5Q0 (UniProtKB/Swiss-Prot),   Q9UFS6 (UniProtKB/Swiss-Prot),   B2RDK8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179320   ⟸   XM_054323345
- Peptide Label: isoform X9
- UniProtKB: B4DW48 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179319   ⟸   XM_054323344
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054179316   ⟸   XM_054323341
- Peptide Label: isoform X5
- UniProtKB: B2RDK8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179315   ⟸   XM_054323340
- Peptide Label: isoform X4
- UniProtKB: B2RDK8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179314   ⟸   XM_054323339
- Peptide Label: isoform X3
- UniProtKB: B2RDK8 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054179317   ⟸   XM_054323342
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054179318   ⟸   XM_054323343
- Peptide Label: isoform X7

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TEL6-F1-model_v2 AlphaFold Q8TEL6 1-797 view protein structure

Promoters
RGD ID:6799145
Promoter ID:HG_KWN:39168
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_199368,   OTTHUMT00000078832,   UC002XBM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362033,144,049 - 33,144,549 (-)MPROMDB
RGD ID:13206753
Promoter ID:EPDNEW_H26957
Type:initiation region
Name:TRPC4AP_1
Description:transient receptor potential cation channel subfamily C member4 associated protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26968  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382035,092,807 - 35,092,867EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16181 AgrOrtholog
COSMIC TRPC4AP COSMIC
Ensembl Genes ENSG00000100991 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000252015 ENTREZGENE
  ENST00000252015.3 UniProtKB/Swiss-Prot
  ENST00000451813 ENTREZGENE
  ENST00000451813.6 UniProtKB/Swiss-Prot
GTEx ENSG00000100991 GTEx
HGNC ID HGNC:16181 ENTREZGENE
Human Proteome Map TRPC4AP Human Proteome Map
InterPro ARM-type_fold UniProtKB/Swiss-Prot
  TRPC4AP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26133 UniProtKB/Swiss-Prot
NCBI Gene 26133 ENTREZGENE
OMIM 608430 OMIM
PANTHER PTHR31743 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHORT TRANSIENT RECEPTOR POTENTIAL CHANNEL 4-ASSOCIATED PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF3689 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25730 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot
UniProt B2RDK8 ENTREZGENE, UniProtKB/TrEMBL
  B4DW48 ENTREZGENE, UniProtKB/TrEMBL
  E1P5Q0 ENTREZGENE
  E1P5Q1 ENTREZGENE
  L8E890_HUMAN UniProtKB/TrEMBL
  Q8TEL6 ENTREZGENE
  Q96H82 ENTREZGENE
  Q9BVB8 ENTREZGENE
  Q9H429 ENTREZGENE
  Q9UFS6 ENTREZGENE
  TP4AP_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary E1P5Q0 UniProtKB/Swiss-Prot
  E1P5Q1 UniProtKB/Swiss-Prot
  Q96H82 UniProtKB/Swiss-Prot
  Q9BVB8 UniProtKB/Swiss-Prot
  Q9H429 UniProtKB/Swiss-Prot
  Q9UFS6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 TRPC4AP  transient receptor potential cation channel subfamily C member 4 associated protein    transient receptor potential cation channel, subfamily C, member 4 associated protein  Symbol and/or name change 5135510 APPROVED