R3HDM4 (R3H domain containing 4) - Rat Genome Database

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Gene: R3HDM4 (R3H domain containing 4) Homo sapiens
Analyze
Symbol: R3HDM4
Name: R3H domain containing 4
RGD ID: 1316037
HGNC Page HGNC:28270
Description: Predicted to enable nucleic acid binding activity. Predicted to be located in nucleus.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C19orf22; MGC16353; R3H domain-containing protein 4; R3H domain-containing protein C19orf22
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3819896,503 - 913,219 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19896,503 - 913,245 (-)EnsemblGRCh38hg38GRCh38
GRCh3719896,503 - 913,219 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3619847,503 - 864,200 (-)NCBINCBI36Build 36hg18NCBI36
Build 3419847,502 - 864,200NCBI
Celera19828,869 - 845,586 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19670,513 - 686,876 (-)NCBIHuRef
CHM1_119895,123 - 912,814 (-)NCBICHM1_1
T2T-CHM13v2.019859,232 - 875,957 (-)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
nucleus  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. 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.
Additional References at PubMed
PMID:15489334   PMID:23314748   PMID:28986522   PMID:30021884   PMID:35944360   PMID:38334954  


Genomics

Comparative Map Data
R3HDM4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3819896,503 - 913,219 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl19896,503 - 913,245 (-)EnsemblGRCh38hg38GRCh38
GRCh3719896,503 - 913,219 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3619847,503 - 864,200 (-)NCBINCBI36Build 36hg18NCBI36
Build 3419847,502 - 864,200NCBI
Celera19828,869 - 845,586 (-)NCBICelera
Cytogenetic Map19p13.3NCBI
HuRef19670,513 - 686,876 (-)NCBIHuRef
CHM1_119895,123 - 912,814 (-)NCBICHM1_1
T2T-CHM13v2.019859,232 - 875,957 (-)NCBIT2T-CHM13v2.0
R3hdm4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391079,745,886 - 79,752,764 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1079,745,886 - 79,757,042 (-)EnsemblGRCm39 Ensembl
GRCm381079,910,052 - 79,916,930 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1079,910,052 - 79,921,208 (-)EnsemblGRCm38mm10GRCm38
MGSCv371079,372,798 - 79,379,675 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361079,313,181 - 79,320,040 (-)NCBIMGSCv36mm8
Celera1080,924,863 - 80,931,740 (-)NCBICelera
Cytogenetic Map10C1NCBI
cM Map1039.72NCBI
R3hdm4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8710,441,032 - 10,448,143 (+)NCBIGRCr8
mRatBN7.279,790,401 - 9,797,512 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl79,790,322 - 9,797,512 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx712,672,377 - 12,679,525 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0714,547,697 - 14,554,842 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0712,408,881 - 12,416,016 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0712,611,476 - 12,618,586 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl712,611,468 - 12,618,586 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0712,781,198 - 12,788,308 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4711,302,975 - 11,309,973 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1711,301,478 - 11,309,971 (+)NCBI
Celera77,965,345 - 7,972,285 (+)NCBICelera
Cytogenetic Map7q11NCBI
R3hdm4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554956,919,236 - 6,936,128 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554956,926,619 - 6,936,128 (+)NCBIChiLan1.0ChiLan1.0
R3HDM4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2205,227,576 - 5,244,164 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1194,466,969 - 4,483,481 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v019219,000 - 235,541 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.119868,192 - 874,301 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl19868,192 - 877,925 (-)Ensemblpanpan1.1panPan2
R3HDM4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12057,761,100 - 57,769,656 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2057,760,909 - 57,769,105 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2057,563,079 - 57,571,673 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02058,503,366 - 58,511,900 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2058,503,160 - 58,511,349 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12057,558,210 - 57,566,745 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02058,037,856 - 58,046,464 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02058,240,857 - 58,249,400 (+)NCBIUU_Cfam_GSD_1.0
R3hdm4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118217,453,435 - 217,461,602 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936588372,971 - 378,538 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936588373,177 - 382,018 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
R3HDM4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl277,479,273 - 77,489,105 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1277,479,259 - 77,489,106 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2277,508,534 - 77,518,363 (-)NCBISscrofa10.2Sscrofa10.2susScr3
R3HDM4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.16643,058 - 662,407 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl6644,005 - 662,338 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660818,255,189 - 8,272,039 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
R3hdm4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248287,682,754 - 7,692,778 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248287,682,770 - 7,691,215 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in R3HDM4
29 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.3(chr19:259395-2555149)x3 copy number gain See cases [RCV000051044] Chr19:259395..2555149 [GRCh38]
Chr19:259395..2555147 [GRCh37]
Chr19:210395..2506147 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3-13.2(chr19:265917-8564134)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052876]|See cases [RCV000052876] Chr19:265917..8564134 [GRCh38]
Chr19:265917..8629018 [GRCh37]
Chr19:216917..8535018 [NCBI36]
Chr19:19p13.3-13.2		 pathogenic
GRCh38/hg38 19p13.3(chr19:591812-1358152)x3 copy number gain See cases [RCV000052877] Chr19:591812..1358152 [GRCh38]
Chr19:591812..1358151 [GRCh37]
Chr19:542812..1309151 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-1952650)x3 copy number gain See cases [RCV000052875] Chr19:259395..1952650 [GRCh38]
Chr19:259395..1952649 [GRCh37]
Chr19:210395..1903649 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:233565-4699472)x3 copy number gain See cases [RCV000052575] Chr19:233565..4699472 [GRCh38]
Chr19:233565..4699484 [GRCh37]
Chr19:184565..4650484 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:677680-899104)x3 copy number gain See cases [RCV000054105] Chr19:677680..899104 [GRCh38]
Chr19:677680..899104 [GRCh37]
Chr19:628680..850104 [NCBI36]
Chr19:19p13.3		 uncertain significance
GRCh38/hg38 19p13.3(chr19:259195-1351363)x1 copy number loss See cases [RCV000053910] Chr19:259195..1351363 [GRCh38]
Chr19:259195..1351362 [GRCh37]
Chr19:210195..1302362 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:266117-1076399)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053911]|See cases [RCV000053911] Chr19:266117..1076399 [GRCh38]
Chr19:266117..1076398 [GRCh37]
Chr19:217117..1027398 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:839492-995558)x1 copy number loss See cases [RCV000134491] Chr19:839492..995558 [GRCh38]
Chr19:839492..995557 [GRCh37]
Chr19:790492..946557 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:421537-2897921)x3 copy number gain See cases [RCV000134894] Chr19:421537..2897921 [GRCh38]
Chr19:421537..2897919 [GRCh37]
Chr19:372537..2848919 [NCBI36]
Chr19:19p13.3		 likely pathogenic
GRCh38/hg38 19p13.3(chr19:259395-2068507)x3 copy number gain See cases [RCV000135433] Chr19:259395..2068507 [GRCh38]
Chr19:259395..2068506 [GRCh37]
Chr19:210395..2019506 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:786550-1297500)x1 copy number loss See cases [RCV000136733] Chr19:786550..1297500 [GRCh38]
Chr19:786550..1297499 [GRCh37]
Chr19:737550..1248499 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:275925-1892276)x3 copy number gain See cases [RCV000141358] Chr19:275925..1892276 [GRCh38]
Chr19:275925..1892275 [GRCh37]
Chr19:226925..1843275 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 copy number gain See cases [RCV000142627] Chr19:259395..6795611 [GRCh38]
Chr19:259395..6795622 [GRCh37]
Chr19:210395..6746622 [NCBI36]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:823554-1206859)x3 copy number gain See cases [RCV000203438] Chr19:823554..1206859 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260912-1163934)x3 copy number gain See cases [RCV000239425] Chr19:260912..1163934 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:277373-2555164)x3 copy number gain See cases [RCV000240507] Chr19:277373..2555164 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_852323)_(1207208_?)dup duplication Peutz-Jeghers syndrome [RCV000527991] Chr19:852323..1207208 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1965786)x3 copy number gain See cases [RCV000511452] Chr19:260911..1965786 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:415092-715725)x3 copy number gain See cases [RCV000511102] Chr19:415092..715725 [GRCh37]
Chr19:19p13.3		 likely benign
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(chr19:266117-1094614)x3 copy number gain not provided [RCV000513059] Chr19:266117..1094614 [GRCh37]
Chr19:19p13.3		 likely pathogenic
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(chr19:259395-3152419) copy number gain Global developmental delay [RCV000626520] Chr19:259395..3152419 [GRCh37]
Chr19:19p13.3		 likely pathogenic
GRCh37/hg19 19p13.3(chr19:715724-1438636)x3 copy number gain not provided [RCV000684086] Chr19:715724..1438636 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-3200875)x3 copy number gain not provided [RCV000684094] Chr19:260911..3200875 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_852319)_(1226656_?)dup duplication Peutz-Jeghers syndrome [RCV000707897] Chr19:852319..1226656 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_852323)_(1222011_?)del deletion Peutz-Jeghers syndrome [RCV000708465] Chr19:852323..1222011 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_852323)_(1226652_?)del deletion Peutz-Jeghers syndrome [RCV000708221] Chr19:852323..1226652 [GRCh37]
Chr19:19p13.3		 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 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(chr19:423160-1429367)x3 copy number gain not provided [RCV000752449] Chr19:423160..1429367 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:789890-941603)x3 copy number gain not provided [RCV000752465] Chr19:789890..941603 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:801381-945710)x3 copy number gain not provided [RCV000752467] Chr19:801381..945710 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:801381-1008645)x3 copy number gain not provided [RCV000752468] Chr19:801381..1008645 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:804908-931523)x3 copy number gain not provided [RCV000752470] Chr19:804908..931523 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:804908-1008216)x3 copy number gain not provided [RCV000752471] Chr19:804908..1008216 [GRCh37]
Chr19:19p13.3		 benign
GRCh37/hg19 19p13.3(chr19:260911-2256387)x3 copy number gain See cases [RCV002285065] Chr19:260911..2256387 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260912-4384674)x3 copy number gain See cases [RCV001007443] Chr19:260912..4384674 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001032652] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-4788357)x3 copy number gain not provided [RCV000846988] Chr19:260911..4788357 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589946)_(4818389_?)dup duplication not provided [RCV003105391] Chr19:589946..4818389 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(2151333_?)dup duplication Cyclical neutropenia [RCV003107569] Chr19:589946..2151333 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_852326)_(1226646_?)del deletion Peutz-Jeghers syndrome [RCV001033230] Chr19:852326..1226646 [GRCh37]
Chr19:19p13.3		 pathogenic
GRCh37/hg19 19p13.3(chr19:260911-3501271)x3 copy number gain not provided [RCV001007025] Chr19:260911..3501271 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_852319)_(1226656_?)del deletion Peutz-Jeghers syndrome [RCV001033903] Chr19:852319..1226656 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589926)_(1401495_?)dup duplication Cerebral creatine deficiency syndrome [RCV001307813] Chr19:589926..1401495 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1319319) copy number loss Peutz-Jeghers syndrome [RCV002280635] Chr19:260911..1319319 [GRCh37]
Chr19:19p13.3		 pathogenic
NC_000019.9:g.(?_589946)_(1650247_?)dup duplication not provided [RCV001940167] Chr19:589946..1650247 [GRCh37]
Chr19:19p13.3		 uncertain significance
NC_000019.9:g.(?_589946)_(1106571_?)del deletion Cyclical neutropenia [RCV001916881]|not provided [RCV001923747] Chr19:589946..1106571 [GRCh37]
Chr19:19p13.3		 pathogenic|uncertain significance
NC_000019.9:g.(?_589946)_(5696788_?)dup duplication not provided [RCV003113597] Chr19:589946..5696788 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.53C>T (p.Pro18Leu) single nucleotide variant not specified [RCV004302861] Chr19:913105 [GRCh38]
Chr19:913105 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.322G>A (p.Glu108Lys) single nucleotide variant not specified [RCV004109300] Chr19:901451 [GRCh38]
Chr19:901451 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.449C>A (p.Pro150His) single nucleotide variant not specified [RCV004247091] Chr19:900855 [GRCh38]
Chr19:900855 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.764C>T (p.Pro255Leu) single nucleotide variant not specified [RCV004243813] Chr19:897480 [GRCh38]
Chr19:897480 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.58G>T (p.Gly20Trp) single nucleotide variant not specified [RCV004202064] Chr19:913100 [GRCh38]
Chr19:913100 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.45G>T (p.Glu15Asp) single nucleotide variant not specified [RCV004128695] Chr19:913113 [GRCh38]
Chr19:913113 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.437G>C (p.Arg146Pro) single nucleotide variant not specified [RCV004241862] Chr19:900867 [GRCh38]
Chr19:900867 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.496C>G (p.Arg166Gly) single nucleotide variant not specified [RCV004148027] Chr19:900126 [GRCh38]
Chr19:900126 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.418G>A (p.Glu140Lys) single nucleotide variant not specified [RCV004176529] Chr19:900886 [GRCh38]
Chr19:900886 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.711C>G (p.Asp237Glu) single nucleotide variant not specified [RCV004129667] Chr19:897533 [GRCh38]
Chr19:897533 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.607G>A (p.Val203Met) single nucleotide variant not specified [RCV004089572] Chr19:899641 [GRCh38]
Chr19:899641 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.469A>G (p.Arg157Gly) single nucleotide variant not specified [RCV004074531] Chr19:900835 [GRCh38]
Chr19:900835 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.431A>G (p.Lys144Arg) single nucleotide variant not specified [RCV004254547] Chr19:900873 [GRCh38]
Chr19:900873 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.478G>A (p.Asp160Asn) single nucleotide variant not specified [RCV004354793] Chr19:900144 [GRCh38]
Chr19:900144 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.320C>T (p.Ala107Val) single nucleotide variant not specified [RCV004334600] Chr19:901453 [GRCh38]
Chr19:901453 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3 copy number gain not provided [RCV003485190] Chr19:260912..7246777 [GRCh37]
Chr19:19p13.3-13.2		 pathogenic
GRCh37/hg19 19p13.3(chr19:352288-1186507)x3 copy number gain not specified [RCV003986107] Chr19:352288..1186507 [GRCh37]
Chr19:19p13.3		 uncertain significance
GRCh37/hg19 19p13.3(chr19:260911-1210337)x1 copy number loss not specified [RCV003986113] Chr19:260911..1210337 [GRCh37]
Chr19:19p13.3		 pathogenic
NM_138774.4(R3HDM4):c.259G>A (p.Gly87Arg) single nucleotide variant not specified [RCV004442925] Chr19:901514 [GRCh38]
Chr19:901514 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.407A>T (p.Tyr136Phe) single nucleotide variant not specified [RCV004442929] Chr19:900897 [GRCh38]
Chr19:900897 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.262G>A (p.Gly88Ser) single nucleotide variant not specified [RCV004442926] Chr19:901511 [GRCh38]
Chr19:901511 [GRCh37]
Chr19:19p13.3		 likely benign
NM_138774.4(R3HDM4):c.337G>A (p.Ala113Thr) single nucleotide variant not specified [RCV004442928] Chr19:901436 [GRCh38]
Chr19:901436 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.784G>A (p.Ala262Thr) single nucleotide variant not specified [RCV004442930] Chr19:897460 [GRCh38]
Chr19:897460 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.445G>A (p.Gly149Ser) single nucleotide variant not specified [RCV004664942] Chr19:900859 [GRCh38]
Chr19:900859 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.31C>T (p.Pro11Ser) single nucleotide variant not specified [RCV004664944] Chr19:913127 [GRCh38]
Chr19:913127 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.446G>C (p.Gly149Ala) single nucleotide variant not specified [RCV004669377] Chr19:900858 [GRCh38]
Chr19:900858 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.466C>G (p.Arg156Gly) single nucleotide variant not specified [RCV004669379] Chr19:900838 [GRCh38]
Chr19:900838 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.634A>G (p.Met212Val) single nucleotide variant not specified [RCV004669378] Chr19:899614 [GRCh38]
Chr19:899614 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.143A>G (p.Gln48Arg) single nucleotide variant not specified [RCV004669381] Chr19:902059 [GRCh38]
Chr19:902059 [GRCh37]
Chr19:19p13.3		 uncertain significance
NM_138774.4(R3HDM4):c.32C>T (p.Pro11Leu) single nucleotide variant not specified [RCV004664943] Chr19:913126 [GRCh38]
Chr19:913126 [GRCh37]
Chr19:19p13.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3827
Count of miRNA genes:858
Interacting mature miRNAs:1028
Transcripts:ENST00000361574, ENST00000586080, ENST00000587975, ENST00000589428, ENST00000589445, ENST00000590259, ENST00000590454, ENST00000591829
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407160773GWAS809749_Herythrocyte measurement QTL GWAS809749 (human)8e-14erythrocyte measurementred blood cell measurement (CMO:0001356)19913048913049Human
406968197GWAS617173_Hreticulocyte count QTL GWAS617173 (human)1e-10reticulocyte counttotal reticulocyte count (CMO:0003020)19898288898289Human
1581534BP76_HBlood pressure QTL 76 (human)20.001Blood pressurepulse pressure19116075902Human
406973703GWAS622679_Hreticulocyte count QTL GWAS622679 (human)4e-24reticulocyte counttotal reticulocyte count (CMO:0003020)19906510906511Human
1581535BP65_HBlood pressure QTL 65 (human)3.10.001Blood pressurepulse pressure19116075902Human
406973704GWAS622680_Hreticulocyte count QTL GWAS622680 (human)5e-42reticulocyte counttotal reticulocyte count (CMO:0003020)19913048913049Human
1298499UAE1_HUrinary albumin excretion QTL 1 (human)2.730.0009Urinary albumin excretionurine albumin:creatinine ratio (ACR)19116075902Human
406964765GWAS613741_Hreticulocyte count QTL GWAS613741 (human)8e-10reticulocyte counttotal reticulocyte count (CMO:0003020)19898288898289Human
406964767GWAS613743_Hreticulocyte count QTL GWAS613743 (human)4e-31reticulocyte counttotal reticulocyte count (CMO:0003020)19913048913049Human
406964766GWAS613742_Hreticulocyte count QTL GWAS613742 (human)1e-15reticulocyte counttotal reticulocyte count (CMO:0003020)19906510906511Human
1643451SLIPL6_HSerum lipid level QTL 6 (human)2.190.0008Lipid level19116075902Human
407113190GWAS762166_Hreticulocyte measurement QTL GWAS762166 (human)1e-46reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)19897215897216Human
407113191GWAS762167_Hreticulocyte measurement QTL GWAS762167 (human)2e-23reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)19900951900952Human
406991463GWAS640439_Hreticulocyte count QTL GWAS640439 (human)2e-62reticulocyte counttotal reticulocyte count (CMO:0003020)19897215897216Human
406960423GWAS609399_Hreticulocyte count QTL GWAS609399 (human)3e-22reticulocyte counttotal reticulocyte count (CMO:0003020)19906510906511Human
406960422GWAS609398_Hreticulocyte count QTL GWAS609398 (human)3e-10reticulocyte counttotal reticulocyte count (CMO:0003020)19898288898289Human
407109740GWAS758716_Hreticulocyte count QTL GWAS758716 (human)5e-39reticulocyte counttotal reticulocyte count (CMO:0003020)19897215897216Human
406991466GWAS640442_Hreticulocyte count QTL GWAS640442 (human)1e-09reticulocyte counttotal reticulocyte count (CMO:0003020)19909300909301Human
406972265GWAS621241_Hreticulocyte count QTL GWAS621241 (human)2e-37reticulocyte counttotal reticulocyte count (CMO:0003020)19913048913049Human
407109741GWAS758717_Hreticulocyte count QTL GWAS758717 (human)2e-21reticulocyte counttotal reticulocyte count (CMO:0003020)19900951900952Human
406991467GWAS640443_Hreticulocyte count QTL GWAS640443 (human)2e-99reticulocyte counttotal reticulocyte count (CMO:0003020)19913048913049Human
406960424GWAS609400_Hreticulocyte count QTL GWAS609400 (human)7e-43reticulocyte counttotal reticulocyte count (CMO:0003020)19913048913049Human
406991464GWAS640440_Hreticulocyte count QTL GWAS640440 (human)2e-29reticulocyte counttotal reticulocyte count (CMO:0003020)19900951900952Human
407109742GWAS758718_Hreticulocyte count QTL GWAS758718 (human)2e-45reticulocyte counttotal reticulocyte count (CMO:0003020)19906510906511Human
406991465GWAS640441_Hreticulocyte count QTL GWAS640441 (human)2e-62reticulocyte counttotal reticulocyte count (CMO:0003020)19906510906511Human
407109743GWAS758719_Hreticulocyte count QTL GWAS758719 (human)3e-61reticulocyte counttotal reticulocyte count (CMO:0003020)19913048913049Human
406967978GWAS616954_Hreticulocyte count QTL GWAS616954 (human)9e-31reticulocyte counttotal reticulocyte count (CMO:0003020)19913048913049Human
406990318GWAS639294_Hreticulocyte measurement QTL GWAS639294 (human)6e-25reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)19901507901508Human
407113192GWAS762168_Hreticulocyte measurement QTL GWAS762168 (human)6e-49reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)19906510906511Human
406976428GWAS625404_Hmonokine induced by gamma interferon measurement QTL GWAS625404 (human)0.000003monokine induced by gamma interferon measurement19897855897856Human
406990319GWAS639295_Hreticulocyte measurement QTL GWAS639295 (human)4e-11reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)19903723903724Human
406968428GWAS617404_Hreticulocyte count QTL GWAS617404 (human)1e-18reticulocyte counttotal reticulocyte count (CMO:0003020)19906510906511Human
407113193GWAS762169_Hreticulocyte measurement QTL GWAS762169 (human)8e-68reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)19913048913049Human
406990317GWAS639293_Hreticulocyte measurement QTL GWAS639293 (human)1e-44reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)19897215897216Human
406990320GWAS639296_Hreticulocyte measurement QTL GWAS639296 (human)1e-54reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)19906510906511Human
407284405GWAS933381_Hvaginal microbiome measurement QTL GWAS933381 (human)0.000004vaginal microbiome measurement19901649901650Human
406990321GWAS639297_Hreticulocyte measurement QTL GWAS639297 (human)1e-107reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)19913048913049Human
407154876GWAS803852_Hbacteria seropositivity QTL GWAS803852 (human)4e-08bacteria seropositivity19900789900790Human
2314591INSUL4_HInsulin level QTL 4 (human)3.80.000038Insulin levelfasting19116075902Human
406998782GWAS647758_Hreticulocyte measurement QTL GWAS647758 (human)5e-46reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)19906510906511Human
406998783GWAS647759_Hreticulocyte measurement QTL GWAS647759 (human)3e-73reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)19913048913049Human
406998780GWAS647756_Hreticulocyte measurement QTL GWAS647756 (human)1e-24reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)19897215897216Human
1298476BP3_HBlood pressure QTL 3 (human)2.4Blood pressuresystolic19116075902Human
406998781GWAS647757_Hreticulocyte measurement QTL GWAS647757 (human)2e-13reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)19901507901508Human

Markers in Region
RH36162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719896,540 - 896,638UniSTSGRCh37
Build 3619847,540 - 847,638RGDNCBI36
Celera19828,906 - 829,004RGD
Cytogenetic Map19p13.3UniSTS
HuRef19670,550 - 670,648UniSTS
D19S700E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3719897,321 - 897,514UniSTSGRCh37
Build 3619848,321 - 848,514RGDNCBI36
Celera19829,687 - 829,880RGD
Cytogenetic Map19p13.3UniSTS
HuRef19671,331 - 671,524UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000361574   ⟹   ENSP00000355385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19896,503 - 913,219 (-)Ensembl
Ensembl Acc Id: ENST00000586080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19899,644 - 901,236 (-)Ensembl
Ensembl Acc Id: ENST00000587975   ⟹   ENSP00000464744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19896,504 - 913,245 (-)Ensembl
Ensembl Acc Id: ENST00000589428   ⟹   ENSP00000466823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19896,503 - 913,245 (-)Ensembl
Ensembl Acc Id: ENST00000589445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19901,491 - 913,151 (-)Ensembl
Ensembl Acc Id: ENST00000590454   ⟹   ENSP00000468026
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19900,078 - 913,204 (-)Ensembl
Ensembl Acc Id: ENST00000591829
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19897,519 - 902,410 (-)Ensembl
Ensembl Acc Id: ENST00000626716   ⟹   ENSP00000486092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl19902,561 - 913,157 (-)Ensembl
RefSeq Acc Id: NM_138774   ⟹   NP_620129
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819896,503 - 913,219 (-)NCBI
GRCh3719896,503 - 913,225 (-)RGD
Build 3619847,503 - 864,200 (-)NCBI Archive
Celera19828,869 - 845,586 (-)RGD
HuRef19670,513 - 686,876 (-)RGD
CHM1_119895,123 - 912,814 (-)NCBI
T2T-CHM13v2.019859,232 - 875,957 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011528416   ⟹   XP_011526718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819897,450 - 913,219 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024451771   ⟹   XP_024307539
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819896,503 - 902,400 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047439659   ⟹   XP_047295615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819896,503 - 902,401 (-)NCBI
RefSeq Acc Id: XM_054322565   ⟹   XP_054178540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019860,182 - 875,957 (-)NCBI
RefSeq Acc Id: XM_054322566   ⟹   XP_054178541
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019859,232 - 865,127 (-)NCBI
RefSeq Acc Id: XM_054322567   ⟹   XP_054178542
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.019859,232 - 865,129 (-)NCBI
RefSeq Acc Id: NP_620129   ⟸   NM_138774
- UniProtKB: Q96D70 (UniProtKB/Swiss-Prot),   K7EIG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011526718   ⟸   XM_011528416
- Peptide Label: isoform X1
- UniProtKB: K7EIG9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307539   ⟸   XM_024451771
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000355385   ⟸   ENST00000361574
Ensembl Acc Id: ENSP00000486092   ⟸   ENST00000626716
Ensembl Acc Id: ENSP00000464744   ⟸   ENST00000587975
Ensembl Acc Id: ENSP00000466823   ⟸   ENST00000589428
Ensembl Acc Id: ENSP00000468026   ⟸   ENST00000590454
RefSeq Acc Id: XP_047295615   ⟸   XM_047439659
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054178542   ⟸   XM_054322567
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054178541   ⟸   XM_054322566
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054178540   ⟸   XM_054322565
- Peptide Label: isoform X1
Protein Domains
R3H   R3H-associated N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96D70-F1-model_v2 AlphaFold Q96D70 1-268 view protein structure

Promoters
RGD ID:6795205
Promoter ID:HG_KWN:28347
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_138774,   UC002LQH.1,   UC002LQI.1,   UC002LQJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3619864,016 - 864,516 (-)MPROMDB
RGD ID:7237751
Promoter ID:EPDNEW_H24621
Type:initiation region
Name:R3HDM4_1
Description:R3H domain containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24622  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819913,219 - 913,279EPDNEW
RGD ID:7237753
Promoter ID:EPDNEW_H24622
Type:initiation region
Name:R3HDM4_2
Description:R3H domain containing 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24621  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3819917,097 - 917,157EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28270 AgrOrtholog
COSMIC R3HDM4 COSMIC
Ensembl Genes ENSG00000198858 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000361574 ENTREZGENE
  ENST00000361574.10 UniProtKB/Swiss-Prot
  ENST00000587975.2 UniProtKB/TrEMBL
  ENST00000589428.5 UniProtKB/TrEMBL
  ENST00000590454.2 UniProtKB/TrEMBL
  ENST00000626716.1 UniProtKB/TrEMBL
GTEx ENSG00000198858 GTEx
HGNC ID HGNC:28270 ENTREZGENE
Human Proteome Map R3HDM4 Human Proteome Map
InterPro R3H-assoc_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  R3H_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  R3H_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  R3HDM4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:91300 UniProtKB/Swiss-Prot
NCBI Gene 91300 ENTREZGENE
PANTHER PTHR32019 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  R3H DOMAIN-CONTAINING PROTEIN 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam R3H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  R3H-assoc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134902004 PharmGKB
PROSITE R3H UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF82708 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt K7EIG9 ENTREZGENE, UniProtKB/TrEMBL
  K7EN78_HUMAN UniProtKB/TrEMBL
  K7ER32_HUMAN UniProtKB/TrEMBL
  Q96D70 ENTREZGENE, UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2011-11-29 R3HDM4  R3H domain containing 4  C19orf22  chromosome 19 open reading frame 22  Symbol and/or name change 5135510 APPROVED