GAPDHS (glyceraldehyde-3-phosphate dehydrogenase, spermatogenic) - 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: GAPDHS (glyceraldehyde-3-phosphate dehydrogenase, spermatogenic) Homo sapiens
Analyze
Symbol: GAPDHS
Name: glyceraldehyde-3-phosphate dehydrogenase, spermatogenic
RGD ID: 1354511
HGNC Page HGNC:24864
Description: Predicted to enable glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity. Predicted to be involved in flagellated sperm motility and glycolytic process. Located in nucleus. Implicated in Alzheimer's disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: epididymis secretory protein Li 278; GAPD2; GAPDH-2; GAPDS; glyceraldehyde-3-phosphate dehydrogenase, testis-specific; HEL-S-278; HSD-35; spermatogenic cell-specific glyceraldehyde 3-phosphate dehydrogenase 2; spermatogenic glyceraldehyde-3-phosphate dehydrogenase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: GAPDHP44  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381935,533,456 - 35,545,319 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1935,533,455 - 35,545,319 (+)EnsemblGRCh38hg38GRCh38
GRCh371936,024,358 - 36,036,221 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361940,716,154 - 40,728,061 (+)NCBINCBI36Build 36hg18NCBI36
Build 341940,716,203 - 40,728,058NCBI
Celera1932,737,767 - 32,749,674 (+)NCBICelera
Cytogenetic Map19q13.12NCBI
HuRef1932,529,762 - 32,541,666 (+)NCBIHuRef
CHM1_11936,025,880 - 36,037,787 (+)NCBICHM1_1
T2T-CHM13v2.01938,078,404 - 38,090,265 (+)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

Biological Process

Cellular Component

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

Human Phenotype
Dystonia  (IAGP)
Prostate cancer  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family. Li Y, etal., Proc Natl Acad Sci U S A 2004 Nov 2;101(44):15688-93. Epub 2004 Oct 26.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
7. Human glyceraldehyde 3-phosphate dehydrogenase-2 gene is expressed specifically in spermatogenic cells. Welch JE, etal., J Androl 2000 Mar-Apr;21(2):328-38.
Additional References at PubMed
PMID:2793178   PMID:3170585   PMID:4349855   PMID:7144574   PMID:8125298   PMID:9264469   PMID:10655454   PMID:11225901   PMID:11330647   PMID:15057824   PMID:15342556   PMID:15489334  
PMID:16324157   PMID:16700075   PMID:16820410   PMID:16832079   PMID:17047026   PMID:17192785   PMID:17353931   PMID:18298375   PMID:18654987   PMID:20534741   PMID:20828617   PMID:20833277  
PMID:20880607   PMID:21269272   PMID:21630459   PMID:21832049   PMID:21873635   PMID:21995946   PMID:23026046   PMID:23306140   PMID:23675907   PMID:24981860   PMID:25936797   PMID:26186194  
PMID:26660717   PMID:27135296   PMID:28302793   PMID:28514442   PMID:29626473   PMID:31152661   PMID:31586073   PMID:31796584   PMID:32235678   PMID:32296183   PMID:32707033   PMID:33194618  
PMID:33306668   PMID:33961781   PMID:34732716   PMID:34825085   PMID:35149585   PMID:35384245   PMID:36042349   PMID:36057605   PMID:36168627   PMID:36526897   PMID:36779763  


Genomics

Comparative Map Data
GAPDHS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381935,533,456 - 35,545,319 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1935,533,455 - 35,545,319 (+)EnsemblGRCh38hg38GRCh38
GRCh371936,024,358 - 36,036,221 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361940,716,154 - 40,728,061 (+)NCBINCBI36Build 36hg18NCBI36
Build 341940,716,203 - 40,728,058NCBI
Celera1932,737,767 - 32,749,674 (+)NCBICelera
Cytogenetic Map19q13.12NCBI
HuRef1932,529,762 - 32,541,666 (+)NCBIHuRef
CHM1_11936,025,880 - 36,037,787 (+)NCBICHM1_1
T2T-CHM13v2.01938,078,404 - 38,090,265 (+)NCBIT2T-CHM13v2.0
Gapdhs
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39730,429,204 - 30,443,106 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl730,429,200 - 30,443,106 (-)EnsemblGRCm39 Ensembl
GRCm38730,729,779 - 30,744,791 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl730,729,775 - 30,743,681 (-)EnsemblGRCm38mm10GRCm38
MGSCv37731,514,906 - 31,524,375 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36730,438,647 - 30,448,116 (-)NCBIMGSCv36mm8
Celera725,312,000 - 25,321,463 (-)NCBICelera
Cytogenetic Map7B1NCBI
cM Map719.23NCBI
Gapdhs
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8195,106,516 - 95,125,918 (-)NCBIGRCr8
mRatBN7.2185,979,096 - 85,994,153 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl185,979,098 - 85,993,640 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx191,394,608 - 91,409,255 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0199,860,784 - 99,875,431 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0193,152,903 - 93,167,552 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0189,180,063 - 89,195,347 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl189,180,063 - 89,194,602 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0190,334,992 - 90,349,782 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4185,773,751 - 85,788,290 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1185,851,861 - 85,866,401 (-)NCBI
Celera180,350,668 - 80,365,207 (-)NCBICelera
Cytogenetic Map1q21NCBI
Gapdhs
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554684,756,972 - 4,775,757 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554684,757,080 - 4,773,675 (+)NCBIChiLan1.0ChiLan1.0
GAPDHS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22041,545,282 - 41,558,098 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11943,528,750 - 43,541,563 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01932,479,559 - 32,491,959 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11941,216,758 - 41,228,750 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1941,216,758 - 41,228,750 (+)Ensemblpanpan1.1panPan2
GAPDHS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11117,121,290 - 117,129,159 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1117,121,293 - 117,129,164 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1116,524,386 - 116,532,255 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01117,721,449 - 117,729,315 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1117,721,452 - 117,729,319 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11117,284,542 - 117,292,412 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01116,910,339 - 116,918,197 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01117,965,611 - 117,973,472 (-)NCBIUU_Cfam_GSD_1.0
Gapdhs
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934910,816,704 - 10,826,361 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936570819,387 - 829,087 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936570819,562 - 830,072 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
GAPDHS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl644,969,139 - 44,979,166 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1644,968,965 - 44,978,992 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2640,367,766 - 40,377,606 (-)NCBISscrofa10.2Sscrofa10.2susScr3
GAPDHS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1630,458,076 - 30,470,139 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl630,458,383 - 30,470,139 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660738,252,774 - 8,264,525 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Gapdhs
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247948,064,074 - 8,067,392 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247948,064,074 - 8,072,875 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in GAPDHS
25 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_014364.5(GAPDHS):c.1129G>A (p.Asp377Asn) single nucleotide variant Malignant tumor of prostate [RCV000149212] Chr19:35544981 [GRCh38]
Chr19:36035883 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss See cases [RCV000135879] Chr19:29661858..38114723 [GRCh38]
Chr19:30152765..38605363 [GRCh37]
Chr19:34844605..43297203 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss See cases [RCV000136794] Chr19:29671324..37902990 [GRCh38]
Chr19:30162231..38393630 [GRCh37]
Chr19:34854071..43085470 [NCBI36]
Chr19:19q12-13.13		 pathogenic
GRCh37/hg19 19q13.12(chr19:35658728-36173537)x3 copy number gain not provided [RCV000752672] Chr19:35658728..36173537 [GRCh37]
Chr19:19q13.12		 benign
GRCh37/hg19 19q13.12(chr19:35723176-36183886)x3 copy number gain See cases [RCV000448697] Chr19:35723176..36183886 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3 copy number gain See cases [RCV000448231] Chr19:30735448..36120396 [GRCh37]
Chr19:19q12-13.12		 pathogenic
NM_014364.5(GAPDHS):c.274C>T (p.Arg92Cys) single nucleotide variant Inborn genetic diseases [RCV003259707] Chr19:35538335 [GRCh38]
Chr19:36029237 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) copy number loss Generalized epilepsy with febrile seizures plus, type 1 [RCV000767768] Chr19:35111811..37744992 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644) copy number loss not provided [RCV000767769] Chr19:35043556..36316644 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
NM_014364.5(GAPDHS):c.601A>G (p.Met201Val) single nucleotide variant not provided [RCV000885918] Chr19:35542550 [GRCh38]
Chr19:36033452 [GRCh37]
Chr19:19q13.12		 benign
NM_014364.5(GAPDHS):c.858G>A (p.Ala286=) single nucleotide variant not provided [RCV000885919] Chr19:35543456 [GRCh38]
Chr19:36034358 [GRCh37]
Chr19:19q13.12		 benign
NM_014364.5(GAPDHS):c.19G>A (p.Val7Ile) single nucleotide variant Inborn genetic diseases [RCV003270365] Chr19:35533546 [GRCh38]
Chr19:36024448 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1 copy number loss not provided [RCV000845987] Chr19:35613953..36183886 [GRCh37]
Chr19:19q13.12		 uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33		 pathogenic
NC_000019.9:g.(?_33167170)_(36643309_?)dup duplication Hereditary spastic paraplegia 75 [RCV003107659] Chr19:33167170..36643309 [GRCh37]
Chr19:19q13.11-13.12		 uncertain significance
Single allele deletion Dystonic disorder [RCV001003865] Chr19:35553425..36264299 [GRCh37]
Chr19:19q13.12		 pathogenic
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 copy number gain Specific learning disability [RCV001801194] Chr19:19546923..41313229 [GRCh37]
Chr19:19p13.11-q13.2		 pathogenic
GRCh37/hg19 19q13.12(chr19:36019064-36516110)x3 copy number gain not provided [RCV001833065] Chr19:36019064..36516110 [GRCh37]
Chr19:19q13.12		 uncertain significance
NC_000019.9:g.(?_35521725)_(36643309_?)del deletion Brugada syndrome 5 [RCV001910265] Chr19:35521725..36643309 [GRCh37]
Chr19:19q13.12		 uncertain significance
NC_000019.9:g.(?_35521725)_(36054531_?)dup duplication Brugada syndrome 5 [RCV001906345] Chr19:35521725..36054531 [GRCh37]
Chr19:19q13.12		 uncertain significance
NC_000019.9:g.(?_35521725)_(36229458_?)del deletion not provided [RCV001975081] Chr19:35521725..36229458 [GRCh37]
Chr19:19q13.12		 pathogenic
NM_014364.5(GAPDHS):c.761C>T (p.Thr254Met) single nucleotide variant Inborn genetic diseases [RCV002683954] Chr19:35543359 [GRCh38]
Chr19:36034261 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.86C>A (p.Pro29Gln) single nucleotide variant Inborn genetic diseases [RCV002682254] Chr19:35536831 [GRCh38]
Chr19:36027733 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.109G>C (p.Glu37Gln) single nucleotide variant Inborn genetic diseases [RCV002997143] Chr19:35536854 [GRCh38]
Chr19:36027756 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.496G>A (p.Val166Met) single nucleotide variant Inborn genetic diseases [RCV002688757] Chr19:35542365 [GRCh38]
Chr19:36033267 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.115C>G (p.Gln39Glu) single nucleotide variant Inborn genetic diseases [RCV002682368] Chr19:35536860 [GRCh38]
Chr19:36027762 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.263G>A (p.Arg88His) single nucleotide variant Inborn genetic diseases [RCV002758038] Chr19:35538324 [GRCh38]
Chr19:36029226 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.941T>C (p.Val314Ala) single nucleotide variant Inborn genetic diseases [RCV002980172] Chr19:35543712 [GRCh38]
Chr19:36034614 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.580G>A (p.Ala194Thr) single nucleotide variant Inborn genetic diseases [RCV002980688] Chr19:35542529 [GRCh38]
Chr19:36033431 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.784G>A (p.Gly262Arg) single nucleotide variant Inborn genetic diseases [RCV002713483] Chr19:35543382 [GRCh38]
Chr19:36034284 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.170C>T (p.Pro57Leu) single nucleotide variant Inborn genetic diseases [RCV002697104] Chr19:35536915 [GRCh38]
Chr19:36027817 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.1035C>G (p.Ile345Met) single nucleotide variant Inborn genetic diseases [RCV002763045] Chr19:35543806 [GRCh38]
Chr19:36034708 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.964G>A (p.Ala322Thr) single nucleotide variant Inborn genetic diseases [RCV002954778] Chr19:35543735 [GRCh38]
Chr19:36034637 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.484G>A (p.Gly162Arg) single nucleotide variant Inborn genetic diseases [RCV002665050] Chr19:35542353 [GRCh38]
Chr19:36033255 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.800C>T (p.Ala267Val) single nucleotide variant Inborn genetic diseases [RCV002940858] Chr19:35543398 [GRCh38]
Chr19:36034300 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.506C>G (p.Ser169Cys) single nucleotide variant Inborn genetic diseases [RCV002895995] Chr19:35542375 [GRCh38]
Chr19:36033277 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.247T>C (p.Phe83Leu) single nucleotide variant Inborn genetic diseases [RCV002769323] Chr19:35538308 [GRCh38]
Chr19:36029210 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.357G>T (p.Lys119Asn) single nucleotide variant Inborn genetic diseases [RCV002747357] Chr19:35538591 [GRCh38]
Chr19:36029493 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.982T>A (p.Ser328Thr) single nucleotide variant Inborn genetic diseases [RCV003286971] Chr19:35543753 [GRCh38]
Chr19:36034655 [GRCh37]
Chr19:19q13.12		 uncertain significance
NM_014364.5(GAPDHS):c.197C>T (p.Pro66Leu) single nucleotide variant Inborn genetic diseases [RCV003342621] Chr19:35536942 [GRCh38]
Chr19:36027844 [GRCh37]
Chr19:19q13.12		 uncertain significance
Single allele deletion not provided [RCV003448708] Chr19:35225414..37357598 [GRCh37]
Chr19:19q13.11-13.12		 pathogenic
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 copy number gain not specified [RCV003986115] Chr19:28271146..41508851 [GRCh37]
Chr19:19q11-13.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:941
Count of miRNA genes:615
Interacting mature miRNAs:718
Transcripts:ENST00000222286, ENST00000585510, ENST00000586334
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 2
Medium 1 2 1 1 41 3 1 368 1 1 5
Low 63 23 61 10 65 6 1163 12 75 3 48 44 4 19 604
Below cutoff 1076 893 713 233 784 136 1322 695 1972 113 537 702 106 486 766 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000222286   ⟹   ENSP00000222286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,533,456 - 35,545,319 (+)Ensembl
RefSeq Acc Id: ENST00000585510   ⟹   ENSP00000467255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,536,783 - 35,543,026 (+)Ensembl
RefSeq Acc Id: ENST00000586334   ⟹   ENSP00000466432
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1935,533,455 - 35,542,989 (+)Ensembl
RefSeq Acc Id: NM_014364   ⟹   NP_055179
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,533,456 - 35,545,319 (+)NCBI
GRCh371936,024,314 - 36,036,221 (+)ENTREZGENE
GRCh371936,024,314 - 36,036,221 (+)NCBI
Build 361940,716,154 - 40,728,061 (+)NCBI Archive
HuRef1932,529,762 - 32,541,666 (+)ENTREZGENE
CHM1_11936,025,880 - 36,037,787 (+)NCBI
T2T-CHM13v2.01938,078,404 - 38,090,265 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_055179   ⟸   NM_014364
- UniProtKB: Q6JTT9 (UniProtKB/Swiss-Prot),   O60823 (UniProtKB/Swiss-Prot),   B2RC82 (UniProtKB/Swiss-Prot),   Q9HCU6 (UniProtKB/Swiss-Prot),   O14556 (UniProtKB/Swiss-Prot),   A0A0K0K1K1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000467255   ⟸   ENST00000585510
RefSeq Acc Id: ENSP00000466432   ⟸   ENST00000586334
RefSeq Acc Id: ENSP00000222286   ⟸   ENST00000222286
Protein Domains
Glyceraldehyde 3-phosphate dehydrogenase NAD(P)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O14556-F1-model_v2 AlphaFold O14556 1-408 view protein structure

Promoters
RGD ID:7239537
Promoter ID:EPDNEW_H25513
Type:multiple initiation site
Name:GAPDHS_1
Description:glyceraldehyde-3-phosphate dehydrogenase, spermatogenic
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25515  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,524,672 - 35,524,732EPDNEW
RGD ID:7239539
Promoter ID:EPDNEW_H25515
Type:initiation region
Name:GAPDHS_2
Description:glyceraldehyde-3-phosphate dehydrogenase, spermatogenic
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25513  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,533,447 - 35,533,507EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24864 AgrOrtholog
COSMIC GAPDHS COSMIC
Ensembl Genes ENSG00000105679 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000222286 ENTREZGENE
  ENST00000222286.9 UniProtKB/Swiss-Prot
  ENST00000585510.1 UniProtKB/TrEMBL
  ENST00000586334.1 UniProtKB/TrEMBL
Gene3D-CATH NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105679 GTEx
HGNC ID HGNC:24864 ENTREZGENE
Human Proteome Map GAPDHS Human Proteome Map
InterPro GlycerAld/Erythrose_P_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GlycerAld_3-P_DH_AS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GlycerAld_3-P_DH_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GlycerAld_3-P_DH_NAD(P)-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyceraldehyde-3-P_DH_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26330 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 26330 ENTREZGENE
OMIM 609169 OMIM
PANTHER GLYCERALDEHYDE-3-PHOSPHATE DEHYDROGENASE, TESTIS-SPECIFIC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10836 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Gp_dh_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Gp_dh_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134934259 PharmGKB
PRINTS G3PDHDRGNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GAPDH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Gp_dh_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Glyceraldehyde-3-phosphate dehydrogenase-like, C-terminal domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF51735 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0K0K1K1 ENTREZGENE, UniProtKB/TrEMBL
  B2RC82 ENTREZGENE
  G3PT_HUMAN UniProtKB/Swiss-Prot
  K7EMB2_HUMAN UniProtKB/TrEMBL
  K7EP73_HUMAN UniProtKB/TrEMBL
  O14556 ENTREZGENE
  O60823 ENTREZGENE
  Q6JTT9 ENTREZGENE
  Q9HCU6 ENTREZGENE
UniProt Secondary B2RC82 UniProtKB/Swiss-Prot
  O60823 UniProtKB/Swiss-Prot
  Q6JTT9 UniProtKB/Swiss-Prot
  Q9HCU6 UniProtKB/Swiss-Prot