GZMH (granzyme H) - 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: GZMH (granzyme H) Homo sapiens
Analyze
Symbol: GZMH
Name: granzyme H
RGD ID: 1348061
HGNC Page HGNC:4710
Description: Predicted to enable serine-type endopeptidase activity. Predicted to be involved in killing of cells of another organism and proteolysis. Located in membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cathepsin G-like 2; cathepsin G-like 2, protein h-CCPX; CCP-X; CGL-2; CSP-C; CTLA1; CTSGL2; cytotoxic serine protease C; cytotoxic T-lymphocyte proteinase; cytotoxic T-lymphocyte-associated serine esterase 1; cytotoxin serine protease-C; granzyme H (cathepsin G-like 2, protein h-CCPX)
RGD Orthologs
Mouse
Rat
Bonobo
Green Monkey
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
GRCh381424,606,480 - 24,609,685 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1424,606,480 - 24,609,699 (-)EnsemblGRCh38hg38GRCh38
GRCh371425,075,686 - 25,078,891 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361424,145,533 - 24,148,704 (-)NCBINCBI36Build 36hg18NCBI36
Build 341424,145,532 - 24,148,704NCBI
Celera144,940,483 - 4,943,654 (-)NCBICelera
Cytogenetic Map14q12NCBI
HuRef145,190,499 - 5,193,739 (-)NCBIHuRef
CHM1_11425,074,581 - 25,077,821 (-)NCBICHM1_1
T2T-CHM13v2.01418,805,362 - 18,808,567 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2007574   PMID:2049336   PMID:2193684   PMID:2300587   PMID:2402757   PMID:9920846   PMID:10521426   PMID:12477932   PMID:12515723   PMID:15069086   PMID:15489334   PMID:17363894  
PMID:17409270   PMID:17765974   PMID:17766182   PMID:19024195   PMID:19039329   PMID:19946888   PMID:21873635   PMID:22156339   PMID:22156497   PMID:23269243   PMID:23352961   PMID:25250148  
PMID:25342632   PMID:29676528   PMID:33737344   PMID:33961781   PMID:35256949   PMID:36006802  


Genomics

Comparative Map Data
GZMH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381424,606,480 - 24,609,685 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1424,606,480 - 24,609,699 (-)EnsemblGRCh38hg38GRCh38
GRCh371425,075,686 - 25,078,891 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361424,145,533 - 24,148,704 (-)NCBINCBI36Build 36hg18NCBI36
Build 341424,145,532 - 24,148,704NCBI
Celera144,940,483 - 4,943,654 (-)NCBICelera
Cytogenetic Map14q12NCBI
HuRef145,190,499 - 5,193,739 (-)NCBIHuRef
CHM1_11425,074,581 - 25,077,821 (-)NCBICHM1_1
T2T-CHM13v2.01418,805,362 - 18,808,567 (-)NCBIT2T-CHM13v2.0
Gzme
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391456,355,076 - 56,358,082 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1456,355,083 - 56,358,082 (-)EnsemblGRCm39 Ensembl
GRCm381456,117,619 - 56,120,625 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1456,117,626 - 56,120,625 (-)EnsemblGRCm38mm10GRCm38
MGSCv371456,736,456 - 56,739,462 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361455,071,690 - 55,074,702 (-)NCBIMGSCv36mm8
Celera1453,923,046 - 53,926,052 (-)NCBICelera
Cytogenetic Map14C3NCBI
cM Map1428.19NCBI
Gzmf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81533,975,543 - 33,997,505 (-)NCBIGRCr8
mRatBN7.21530,005,361 - 30,018,649 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1530,007,267 - 30,018,649 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1531,853,246 - 31,864,626 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01533,000,449 - 33,011,831 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01531,258,585 - 31,269,969 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01535,182,405 - 35,195,725 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1535,184,364 - 35,195,725 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01539,071,306 - 39,082,672 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41534,696,237 - 34,707,618 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11534,711,937 - 34,723,318 (-)NCBI
Celera1529,581,398 - 29,592,512 (-)NCBICelera
Cytogenetic Map15p12NCBI
GZMH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21525,954,174 - 25,957,648 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11425,170,666 - 25,174,140 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0145,375,775 - 5,379,021 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11423,499,513 - 23,502,736 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1423,499,513 - 23,502,674 (-)Ensemblpanpan1.1panPan2
GZMH
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1241,545,819 - 1,549,376 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl241,545,748 - 1,549,477 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603613,240,376 - 13,243,936 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in GZMH
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] Chr14:20151149..27723796 [GRCh38]
Chr14:20619308..28193002 [GRCh37]
Chr14:19689148..27262842 [NCBI36]
Chr14:14q11.2-12		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 copy number loss See cases [RCV000051490] Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 copy number gain See cases [RCV000137725] Chr14:20412587..25018120 [GRCh38]
Chr14:20880746..25487326 [GRCh37]
Chr14:19950586..24557166 [NCBI36]
Chr14:14q11.2-12		 likely pathogenic
GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1 copy number loss See cases [RCV000142873] Chr14:23984065..25374494 [GRCh38]
Chr14:24453274..25843700 [GRCh37]
Chr14:23523114..24913540 [NCBI36]
Chr14:14q11.2-12		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3 copy number gain See cases [RCV000143186] Chr14:20022693..44093672 [GRCh38]
Chr14:20490852..44562875 [GRCh37]
Chr14:19560692..43632625 [NCBI36]
Chr14:14q11.2-21.2		 pathogenic
GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3 copy number gain See cases [RCV000143748] Chr14:20043513..48642042 [GRCh38]
Chr14:20511672..49111245 [GRCh37]
Chr14:19581512..48180995 [NCBI36]
Chr14:14q11.2-21.3		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:19100682-28730087) copy number gain not provided [RCV000767822] Chr14:19100682..28730087 [GRCh37]
Chr14:14q11.2-12		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3 copy number gain See cases [RCV000240285] Chr14:19794561..27768254 [GRCh37]
Chr14:14q11.2-12		 pathogenic
GRCh37/hg19 14q11.2-22.2(chr14:23164384-54733411)x3 copy number gain See cases [RCV000447658] Chr14:23164384..54733411 [GRCh37]
Chr14:14q11.2-22.2		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3 copy number gain See cases [RCV000448273] Chr14:19794561..34049214 [GRCh37]
Chr14:14q11.2-13.1		 pathogenic
GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1 copy number loss See cases [RCV000510673] Chr14:24233721..31377083 [GRCh37]
Chr14:14q11.2-12		 pathogenic
GRCh37/hg19 14q12(chr14:24917041-25611546)x3 copy number gain See cases [RCV000510160] Chr14:24917041..25611546 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_033423.5(GZMH):c.740A>T (p.Ter247Leu) single nucleotide variant not provided [RCV000960554] Chr14:24606604 [GRCh38]
Chr14:25075810 [GRCh37]
Chr14:14q12		 benign
NC_000014.8:g.(?_23242819)_(25103366_?)dup duplication Lysinuric protein intolerance [RCV003105428]|Specific granule deficiency [RCV003105427] Chr14:23242819..25103366 [GRCh37]
Chr14:14q11.2-12		 uncertain significance
GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3 copy number gain not provided [RCV001249358] Chr14:20511672..42881888 [GRCh37]
Chr14:14q11.2-21.1		 not provided
GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3 copy number gain not provided [RCV001006605] Chr14:20511672..44829030 [GRCh37]
Chr14:14q11.2-21.2		 pathogenic
GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203) copy number gain Seizure [RCV002280625] Chr14:20511672..47481203 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del deletion Brain-lung-thyroid syndrome [RCV002221171] Chr14:36986276..36987308 [GRCh37]
Chr14:14q11.2-21.3		 pathogenic
NM_033423.5(GZMH):c.730A>G (p.Lys244Glu) single nucleotide variant Inborn genetic diseases [RCV002772135] Chr14:24606614 [GRCh38]
Chr14:25075820 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1 copy number loss not provided [RCV002475721] Chr14:24959823..33415359 [GRCh37]
Chr14:14q12-13.1		 pathogenic
NM_033423.5(GZMH):c.550A>C (p.Thr184Pro) single nucleotide variant Inborn genetic diseases [RCV002970481] Chr14:24607196 [GRCh38]
Chr14:25076402 [GRCh37]
Chr14:14q12		 uncertain significance
NM_033423.5(GZMH):c.151G>A (p.Gly51Ser) single nucleotide variant Inborn genetic diseases [RCV002683406] Chr14:24608317 [GRCh38]
Chr14:25077523 [GRCh37]
Chr14:14q12		 uncertain significance
NM_033423.5(GZMH):c.223G>A (p.Gly75Arg) single nucleotide variant Inborn genetic diseases [RCV002950101] Chr14:24607728 [GRCh38]
Chr14:25076934 [GRCh37]
Chr14:14q12		 uncertain significance
NM_033423.5(GZMH):c.520C>T (p.Arg174Cys) single nucleotide variant Inborn genetic diseases [RCV002692241] Chr14:24607226 [GRCh38]
Chr14:25076432 [GRCh37]
Chr14:14q12		 uncertain significance
NM_033423.5(GZMH):c.391A>G (p.Ser131Gly) single nucleotide variant Inborn genetic diseases [RCV002950194] Chr14:24607355 [GRCh38]
Chr14:25076561 [GRCh37]
Chr14:14q12		 uncertain significance
NM_033423.5(GZMH):c.154A>G (p.Ile52Val) single nucleotide variant Inborn genetic diseases [RCV002983232] Chr14:24608314 [GRCh38]
Chr14:25077520 [GRCh37]
Chr14:14q12		 likely benign
NM_033423.5(GZMH):c.322G>A (p.Asp108Asn) single nucleotide variant Inborn genetic diseases [RCV002712853] Chr14:24607629 [GRCh38]
Chr14:25076835 [GRCh37]
Chr14:14q12		 uncertain significance
NM_033423.5(GZMH):c.475C>G (p.Leu159Val) single nucleotide variant Inborn genetic diseases [RCV003010556] Chr14:24607271 [GRCh38]
Chr14:25076477 [GRCh37]
Chr14:14q12		 uncertain significance
GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1 copy number loss not provided [RCV003483196] Chr14:24445622..28262222 [GRCh37]
Chr14:14q11.2-12		 likely pathogenic
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:880
Count of miRNA genes:284
Interacting mature miRNAs:299
Transcripts:ENST00000216338, ENST00000382548, ENST00000557220
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
RH71382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371425,075,863 - 25,076,385UniSTSGRCh37
Build 361424,145,703 - 24,146,225RGDNCBI36
Celera144,940,653 - 4,941,175RGD
Cytogenetic Map14q11.2UniSTS
HuRef145,190,676 - 5,191,198UniSTS
GeneMap99-GB4 RH Map1420.64UniSTS
NCBI RH Map1431.0UniSTS
STS-R53038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371425,075,738 - 25,076,373UniSTSGRCh37
Celera144,940,528 - 4,941,163UniSTS
Cytogenetic Map14q11.2UniSTS
HuRef145,190,551 - 5,191,186UniSTS
GeneMap99-GB4 RH Map1736.11UniSTS


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 pharyngeal arch
High 6 6
Medium 26 600 70 25 907 26 31 3 22 75 55 323 57 10
Low 1358 1365 1387 513 615 364 1900 675 1502 225 833 993 147 963 1119 1 1
Below cutoff 878 883 224 65 143 51 1850 1280 1820 63 415 85 17 169 1381 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001270780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001270781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AL136018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW204493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY232657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY232658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ054303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD000418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J02907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M36118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M57888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M59718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M72150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000216338   ⟹   ENSP00000216338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,606,480 - 24,609,685 (-)Ensembl
RefSeq Acc Id: ENST00000382548   ⟹   ENSP00000371988
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,606,485 - 24,609,699 (-)Ensembl
RefSeq Acc Id: ENST00000557220   ⟹   ENSP00000450576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,606,485 - 24,609,667 (-)Ensembl
RefSeq Acc Id: NM_001270780   ⟹   NP_001257709
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,606,480 - 24,609,685 (-)NCBI
HuRef145,190,499 - 5,193,739 (-)NCBI
CHM1_11425,074,581 - 25,077,821 (-)NCBI
T2T-CHM13v2.01418,805,362 - 18,808,567 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001270781   ⟹   NP_001257710
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,606,480 - 24,609,685 (-)NCBI
HuRef145,190,499 - 5,193,739 (-)NCBI
CHM1_11425,074,581 - 25,077,821 (-)NCBI
T2T-CHM13v2.01418,805,362 - 18,808,567 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033423   ⟹   NP_219491
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,606,480 - 24,609,685 (-)NCBI
GRCh371425,075,686 - 25,078,926 (-)NCBI
Build 361424,145,533 - 24,148,704 (-)NCBI Archive
HuRef145,190,499 - 5,193,739 (-)NCBI
CHM1_11425,074,581 - 25,077,821 (-)NCBI
T2T-CHM13v2.01418,805,362 - 18,808,567 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_219491   ⟸   NM_033423
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q6XGZ0 (UniProtKB/Swiss-Prot),   G3V2C5 (UniProtKB/Swiss-Prot),   Q6XGZ1 (UniProtKB/Swiss-Prot),   P20718 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257710   ⟸   NM_001270781
- Peptide Label: isoform 3 precursor
- UniProtKB: P20718 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001257709   ⟸   NM_001270780
- Peptide Label: isoform 2 precursor
- Sequence:
RefSeq Acc Id: ENSP00000450576   ⟸   ENST00000557220
RefSeq Acc Id: ENSP00000216338   ⟸   ENST00000216338
RefSeq Acc Id: ENSP00000371988   ⟸   ENST00000382548
Protein Domains
Peptidase S1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P20718-F1-model_v2 AlphaFold P20718 1-246 view protein structure

Promoters
RGD ID:6791620
Promoter ID:HG_KWN:19121
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000382547,   OTTHUMT00000276538,   UC010ALY.1,   UC010ALZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361424,148,776 - 24,149,276 (-)MPROMDB
RGD ID:7227335
Promoter ID:EPDNEW_H19412
Type:initiation region
Name:GZMH_1
Description:granzyme H
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,609,685 - 24,609,745EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4710 AgrOrtholog
COSMIC GZMH COSMIC
Ensembl Genes ENSG00000100450 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000216338 ENTREZGENE
  ENST00000216338.9 UniProtKB/Swiss-Prot
  ENST00000382548 ENTREZGENE
  ENST00000382548.4 UniProtKB/Swiss-Prot
  ENST00000557220.6 UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100450 GTEx
HGNC ID HGNC:4710 ENTREZGENE
Human Proteome Map GZMH Human Proteome Map
InterPro Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2999 UniProtKB/Swiss-Prot
NCBI Gene 2999 ENTREZGENE
OMIM 116831 OMIM
PANTHER GRANZYME H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KALLIKREIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29088 PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot
PROSITE TRYPSIN_DOM UniProtKB/Swiss-Prot
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DGJ9_HUMAN UniProtKB/TrEMBL
  G3V2C5 ENTREZGENE
  GRAH_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6XGZ0 ENTREZGENE
  Q6XGZ1 ENTREZGENE
UniProt Secondary G3V2C5 UniProtKB/Swiss-Prot
  Q6XGZ0 UniProtKB/Swiss-Prot
  Q6XGZ1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 GZMH  granzyme H  GZMH  granzyme H (cathepsin G-like 2, protein h-CCPX)  Symbol and/or name change 5135510 APPROVED