RHBDD1 (rhomboid domain containing 1) - Rat Genome Database

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Gene: RHBDD1 (rhomboid domain containing 1) Homo sapiens
Analyze
Symbol: RHBDD1
Name: rhomboid domain containing 1
RGD ID: 1601951
HGNC Page HGNC:23081
Description: Enables serine-type endopeptidase activity. Involved in several processes, including cellular response to unfolded protein; membrane protein proteolysis; and positive regulation of protein catabolic process. Located in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: DKFZp547E052; MGC117258; RHBDL4; rhomboid domain-containing protein 1; rhomboid like 4; rhomboid-like protein 4; rhomboid-related protein 4; RRP4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AL590704.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382226,800,159 - 226,999,210 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2226,835,581 - 226,999,215 (+)EnsemblGRCh38hg38GRCh38
GRCh372227,664,875 - 227,863,926 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362227,409,017 - 227,569,836 (+)NCBINCBI36Build 36hg18NCBI36
Celera2221,470,201 - 221,633,451 (+)NCBICelera
Cytogenetic Map2q36.3NCBI
HuRef2219,544,272 - 219,707,358 (+)NCBIHuRef
CHM1_12227,706,529 - 227,869,795 (+)NCBICHM1_1
T2T-CHM13v2.02227,283,017 - 227,481,905 (+)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

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:12838346   PMID:14702039   PMID:14744259   PMID:15489334   PMID:15815621   PMID:16344560   PMID:16751776   PMID:17903307   PMID:18953687   PMID:21873635   PMID:22035660  
PMID:22624035   PMID:22795130   PMID:23369641   PMID:23534782   PMID:23562403   PMID:23669365   PMID:23883433   PMID:23940030   PMID:25062361   PMID:25695376   PMID:26186194   PMID:26300397  
PMID:27407164   PMID:27563067   PMID:28445956   PMID:28514442   PMID:28611215   PMID:29180619   PMID:29426364   PMID:29513927   PMID:30143535   PMID:30286765   PMID:31177093   PMID:31243644  
PMID:31693935   PMID:32296183   PMID:32423001   PMID:32528541   PMID:33961781   PMID:34581421   PMID:34962825   PMID:35271311   PMID:35442567   PMID:35692140   PMID:35696571   PMID:36736316  
PMID:36825753   PMID:36857408   PMID:37219487   PMID:38453906  


Genomics

Comparative Map Data
RHBDD1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382226,800,159 - 226,999,210 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2226,835,581 - 226,999,215 (+)EnsemblGRCh38hg38GRCh38
GRCh372227,664,875 - 227,863,926 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362227,409,017 - 227,569,836 (+)NCBINCBI36Build 36hg18NCBI36
Celera2221,470,201 - 221,633,451 (+)NCBICelera
Cytogenetic Map2q36.3NCBI
HuRef2219,544,272 - 219,707,358 (+)NCBIHuRef
CHM1_12227,706,529 - 227,869,795 (+)NCBICHM1_1
T2T-CHM13v2.02227,283,017 - 227,481,905 (+)NCBIT2T-CHM13v2.0
Rhbdd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39182,294,178 - 82,423,087 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl182,294,173 - 82,423,087 (+)EnsemblGRCm39 Ensembl
GRCm38182,316,457 - 82,445,366 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl182,316,452 - 82,445,366 (+)EnsemblGRCm38mm10GRCm38
MGSCv37182,313,154 - 82,441,941 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36182,219,343 - 82,324,390 (+)NCBIMGSCv36mm8
Celera182,385,093 - 82,514,031 (+)NCBICelera
Cytogenetic Map1C5NCBI
cM Map142.08NCBI
Rhbdd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8991,076,786 - 91,196,719 (+)NCBIGRCr8
mRatBN7.2983,630,037 - 83,748,690 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl983,630,063 - 83,748,689 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx992,083,454 - 92,176,482 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0997,211,935 - 97,304,967 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0995,594,879 - 95,687,904 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0988,110,731 - 88,229,462 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl988,110,731 - 88,229,479 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0987,859,493 - 87,978,041 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4981,685,464 - 81,778,714 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1981,868,882 - 81,962,132 (+)NCBI
Celera981,097,666 - 81,190,159 (+)NCBICelera
Cytogenetic Map9q34NCBI
Rhbdd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554537,528,916 - 7,644,477 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554537,527,090 - 7,656,689 (-)NCBIChiLan1.0ChiLan1.0
RHBDD1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213129,456,976 - 129,621,031 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B129,472,216 - 129,634,861 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B114,041,381 - 114,245,220 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B232,895,653 - 233,057,578 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B232,897,487 - 233,057,578 (+)Ensemblpanpan1.1panPan2
RHBDD1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12539,719,474 - 39,844,634 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2539,719,872 - 39,842,289 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2540,337,654 - 40,462,607 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02539,967,748 - 40,092,733 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2539,967,854 - 40,092,723 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12539,904,272 - 40,029,226 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02539,739,172 - 39,864,134 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02539,918,066 - 40,043,073 (+)NCBIUU_Cfam_GSD_1.0
Rhbdd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303181,910,526 - 182,032,873 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365258,906,631 - 9,004,372 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365258,906,848 - 9,028,792 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RHBDD1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15128,346,373 - 128,469,213 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115128,346,315 - 128,499,151 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215142,019,675 - 142,047,210 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RHBDD1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110112,882,789 - 113,018,889 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10112,882,789 - 113,020,732 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604086,426,704 - 86,590,968 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rhbdd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248431,219,808 - 1,360,135 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248431,217,655 - 1,362,406 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RHBDD1
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q36.3-37.3(chr2:226978129-236886599)x1 copy number loss See cases [RCV000052637] Chr2:226978129..236886599 [GRCh38]
Chr2:227842845..237795242 [GRCh37]
Chr2:227551089..237459981 [NCBI36]
Chr2:2q36.3-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q34-36.3(chr2:212614422-227121230)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052964]|See cases [RCV000052964] Chr2:212614422..227121230 [GRCh38]
Chr2:213479146..227985946 [GRCh37]
Chr2:213187391..227694190 [NCBI36]
Chr2:2q34-36.3		 pathogenic
GRCh38/hg38 2q35-36.3(chr2:219547204-228287942)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052965]|See cases [RCV000052965] Chr2:219547204..228287942 [GRCh38]
Chr2:220411926..229152658 [GRCh37]
Chr2:220120170..228860902 [NCBI36]
Chr2:2q35-36.3		 pathogenic
GRCh38/hg38 2q36.1-37.3(chr2:223992431-242126245)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052972]|See cases [RCV000052972] Chr2:223992431..242126245 [GRCh38]
Chr2:224857148..243059659 [GRCh37]
Chr2:224565392..242717069 [NCBI36]
Chr2:2q36.1-37.3		 pathogenic
GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3 copy number gain See cases [RCV000135934] Chr2:210579676..242126245 [GRCh38]
Chr2:211444400..243059659 [GRCh37]
Chr2:211152645..242717069 [NCBI36]
Chr2:2q34-37.3		 pathogenic
GRCh38/hg38 2q36.3(chr2:226637143-226858469)x3 copy number gain See cases [RCV000138482] Chr2:226637143..226858469 [GRCh38]
Chr2:227501859..227723185 [GRCh37]
Chr2:227210103..227431429 [NCBI36]
Chr2:2q36.3		 likely benign
GRCh38/hg38 2q36.3(chr2:226913957-226978129)x1 copy number loss See cases [RCV000141352] Chr2:226913957..226978129 [GRCh38]
Chr2:227778673..227842845 [GRCh37]
Chr2:227486917..227551089 [NCBI36]
Chr2:2q36.3		 uncertain significance
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3 copy number gain See cases [RCV000143216] Chr2:218101759..242126245 [GRCh38]
Chr2:218966482..243059659 [GRCh37]
Chr2:218674727..242717069 [NCBI36]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3 copy number gain See cases [RCV000448049] Chr2:219966808..237815985 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074)x1 copy number loss See cases [RCV000448773] Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1		 likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q36.3(chr2:226921892-227997073)x3 copy number gain See cases [RCV000510515] Chr2:226921892..227997073 [GRCh37]
Chr2:2q36.3		 uncertain significance
GRCh37/hg19 2q36.3(chr2:227818366-228074909)x3 copy number gain See cases [RCV000510289] Chr2:227818366..228074909 [GRCh37]
Chr2:2q36.3		 uncertain significance
GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3 copy number gain See cases [RCV000511816] Chr2:222077224..239394441 [GRCh37]
Chr2:2q36.1-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001167608.3(RHBDD1):c.22A>T (p.Ile8Leu) single nucleotide variant Inborn genetic diseases [RCV003239541] Chr2:226864715 [GRCh38]
Chr2:227729431 [GRCh37]
Chr2:2q36.3		 uncertain significance
GRCh37/hg19 2q36.3(chr2:227766478-227855256)x1 copy number loss not provided [RCV000681995] Chr2:227766478..227855256 [GRCh37]
Chr2:2q36.3		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3 copy number gain not provided [RCV000682170] Chr2:219225872..242016876 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q36.3(chr2:227547136-227721460)x3 copy number gain not provided [RCV000740919] Chr2:227547136..227721460 [GRCh37]
Chr2:2q36.3		 benign
NM_001167608.3(RHBDD1):c.897C>T (p.Leu299=) single nucleotide variant not provided [RCV000948636] Chr2:226995471 [GRCh38]
Chr2:227860187 [GRCh37]
Chr2:2q36.3		 benign
GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3 copy number gain See cases [RCV000790568] Chr2:210779657..239879183 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q36.3(chr2:227763096-227818239)x1 copy number loss not provided [RCV001005378] Chr2:227763096..227818239 [GRCh37]
Chr2:2q36.3		 uncertain significance
GRCh37/hg19 2q36.3(chr2:227766370-227857616)x1 copy number loss not provided [RCV001007512] Chr2:227766370..227857616 [GRCh37]
Chr2:2q36.3		 uncertain significance
GRCh37/hg19 2q36.2-36.3(chr2:226027074-229110812)x1 copy number loss not provided [RCV001259188] Chr2:226027074..229110812 [GRCh37]
Chr2:2q36.2-36.3		 likely pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q35-37.3(chr2:219606537-239217703) copy number loss not specified [RCV002053285] Chr2:219606537..239217703 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q36.1-37.1(chr2:223378640-232061074) copy number loss not specified [RCV002053287] Chr2:223378640..232061074 [GRCh37]
Chr2:2q36.1-37.1		 pathogenic
NC_000002.11:g.(?_227659726)_(228175684_?)dup duplication not provided [RCV001910627] Chr2:227659726..228175684 [GRCh37]
Chr2:2q36.3		 uncertain significance
NC_000002.11:g.(?_227659726)_(227927334_?)del deletion not provided [RCV001967269] Chr2:227659726..227927334 [GRCh37]
Chr2:2q36.3		 pathogenic
NC_000002.11:g.(?_227659726)_(228175684_?)del deletion not provided [RCV001958896] Chr2:227659726..228175684 [GRCh37]
Chr2:2q36.3		 pathogenic
NC_000002.11:g.(?_227659726)_(228567034_?)dup duplication not provided [RCV003122725] Chr2:227659726..228567034 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_001167608.3(RHBDD1):c.226G>A (p.Ala76Thr) single nucleotide variant Inborn genetic diseases [RCV003285773] Chr2:226864919 [GRCh38]
Chr2:227729635 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_001167608.3(RHBDD1):c.910A>G (p.Met304Val) single nucleotide variant Inborn genetic diseases [RCV002776954] Chr2:226995484 [GRCh38]
Chr2:227860200 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_001167608.3(RHBDD1):c.7C>T (p.Arg3Trp) single nucleotide variant Inborn genetic diseases [RCV002973814] Chr2:226864700 [GRCh38]
Chr2:227729416 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_001167608.3(RHBDD1):c.130A>T (p.Asn44Tyr) single nucleotide variant Inborn genetic diseases [RCV002864757] Chr2:226864823 [GRCh38]
Chr2:227729539 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_001167608.3(RHBDD1):c.839C>G (p.Ala280Gly) single nucleotide variant Inborn genetic diseases [RCV002981148] Chr2:226914334 [GRCh38]
Chr2:227779050 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_001167608.3(RHBDD1):c.199C>T (p.Arg67Cys) single nucleotide variant Inborn genetic diseases [RCV002929425] Chr2:226864892 [GRCh38]
Chr2:227729608 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_001167608.3(RHBDD1):c.152G>A (p.Ser51Asn) single nucleotide variant Inborn genetic diseases [RCV002746944] Chr2:226864845 [GRCh38]
Chr2:227729561 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_001167608.3(RHBDD1):c.740C>T (p.Pro247Leu) single nucleotide variant Inborn genetic diseases [RCV002680335] Chr2:226914235 [GRCh38]
Chr2:227778951 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_001167608.3(RHBDD1):c.820C>T (p.Leu274Phe) single nucleotide variant Inborn genetic diseases [RCV003357732] Chr2:226914315 [GRCh38]
Chr2:227779031 [GRCh37]
Chr2:2q36.3		 uncertain significance
NM_001167608.3(RHBDD1):c.512C>T (p.Pro171Leu) single nucleotide variant Inborn genetic diseases [RCV003344960] Chr2:226867264 [GRCh38]
Chr2:227731980 [GRCh37]
Chr2:2q36.3		 uncertain significance
GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3 copy number gain not provided [RCV003484087] Chr2:218376403..242783384 [GRCh37]
Chr2:2q35-37.3		 pathogenic
GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3 copy number gain not provided [RCV003484091] Chr2:225995545..237594511 [GRCh37]
Chr2:2q36.2-37.3		 pathogenic
NM_001167608.3(RHBDD1):c.788C>T (p.Thr263Met) single nucleotide variant not provided [RCV003440204] Chr2:226914283 [GRCh38]
Chr2:227778999 [GRCh37]
Chr2:2q36.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5061
Count of miRNA genes:1254
Interacting mature miRNAs:1570
Transcripts:ENST00000341329, ENST00000392062, ENST00000409053, ENST00000423616, ENST00000424132, ENST00000436481, ENST00000437454, ENST00000443477, ENST00000448992, ENST00000450679, ENST00000473218, ENST00000483268, ENST00000491490, ENST00000493526, ENST00000539613
Prediction methods:Microtar, 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.

Markers in Region
D2S1349  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,809,810 - 227,810,077UniSTSGRCh37
Build 362227,518,054 - 227,518,321RGDNCBI36
Celera2221,579,338 - 221,579,605RGD
Cytogenetic Map2q36.3UniSTS
HuRef2219,653,419 - 219,653,686UniSTS
Marshfield Genetic Map2228.01UniSTS
Marshfield Genetic Map2228.01RGD
Whitehead-YAC Contig Map2 UniSTS
D2S159  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,823,389 - 227,823,557UniSTSGRCh37
GRCh372227,823,388 - 227,823,588UniSTSGRCh37
Build 362227,531,633 - 227,531,801RGDNCBI36
Celera2221,592,916 - 221,593,084RGD
Celera2221,592,915 - 221,593,115UniSTS
Cytogenetic Map2q36.3UniSTS
HuRef2219,666,996 - 219,667,168UniSTS
HuRef2219,666,995 - 219,667,199UniSTS
Marshfield Genetic Map2228.61RGD
Genethon Genetic Map2236.1UniSTS
deCODE Assembly Map2230.48UniSTS
Whitehead-RH Map21050.8UniSTS
NCBI RH Map21842.1UniSTS
GeneMap99-G3 RH Map29670.0UniSTS
STS-AA026333  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,860,980 - 227,861,219UniSTSGRCh37
Build 362227,569,224 - 227,569,463RGDNCBI36
Celera2221,630,505 - 221,630,744RGD
Cytogenetic Map2q36.3UniSTS
HuRef2219,704,412 - 219,704,651UniSTS
NCBI RH Map21863.0UniSTS
RH93902  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,863,684 - 227,863,868UniSTSGRCh37
Build 362227,571,928 - 227,572,112RGDNCBI36
Celera2221,633,209 - 221,633,393RGD
Cytogenetic Map2q36.3UniSTS
HuRef2219,707,116 - 219,707,300UniSTS
GeneMap99-GB4 RH Map2703.84UniSTS
RH93567  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,862,140 - 227,862,274UniSTSGRCh37
Build 362227,570,384 - 227,570,518RGDNCBI36
Celera2221,631,665 - 221,631,799RGD
Cytogenetic Map2q36.3UniSTS
HuRef2219,705,572 - 219,705,706UniSTS
GeneMap99-GB4 RH Map2703.84UniSTS
RH103372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,863,606 - 227,863,785UniSTSGRCh37
Build 362227,571,850 - 227,572,029RGDNCBI36
Celera2221,633,131 - 221,633,310RGD
Cytogenetic Map2q36.3UniSTS
HuRef2219,707,038 - 219,707,217UniSTS
GeneMap99-GB4 RH Map2703.84UniSTS
RH121408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,827,033 - 227,827,350UniSTSGRCh37
Build 362227,535,277 - 227,535,594RGDNCBI36
Celera2221,596,560 - 221,596,877RGD
Cytogenetic Map2q36.3UniSTS
HuRef2219,670,644 - 219,670,961UniSTS
TNG Radiation Hybrid Map2124992.0UniSTS
SHGC-151021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,823,389 - 227,823,577UniSTSGRCh37
Build 362227,531,633 - 227,531,821RGDNCBI36
Celera2221,592,916 - 221,593,104RGD
Cytogenetic Map2q36.3UniSTS
HuRef2219,666,996 - 219,667,188UniSTS
TNG Radiation Hybrid Map2124974.0UniSTS
SHGC-53082  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,705,204 - 227,705,378UniSTSGRCh37
Build 362227,413,448 - 227,413,622RGDNCBI36
Celera2221,474,734 - 221,474,908RGD
Cytogenetic Map2q36.3UniSTS
HuRef2219,548,805 - 219,548,979UniSTS
D2S2081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,853,910 - 227,854,022UniSTSGRCh37
Build 362227,562,154 - 227,562,266RGDNCBI36
Celera2221,623,435 - 221,623,547RGD
Cytogenetic Map2q36.3UniSTS
HuRef2219,697,342 - 219,697,454UniSTS
Whitehead-RH Map21050.8UniSTS
Whitehead-YAC Contig Map2 UniSTS
NCBI RH Map21848.3UniSTS
RH68455  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372227,829,132 - 227,829,363UniSTSGRCh37
Build 362227,537,376 - 227,537,607RGDNCBI36
Celera2221,598,658 - 221,598,889RGD
Cytogenetic Map2q36.3UniSTS
HuRef2219,672,742 - 219,672,973UniSTS
GeneMap99-GB4 RH Map2703.84UniSTS
NCBI RH Map21859.7UniSTS
G02278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map6q12UniSTS
Cytogenetic Map4p11UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p22.1UniSTS
D2S159  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q36.3UniSTS
Marshfield Genetic Map2228.61UniSTS
Genethon Genetic Map2236.1UniSTS
deCODE Assembly Map2230.48UniSTS
Whitehead-RH Map21050.8UniSTS
NCBI RH Map21842.1UniSTS


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 989 946 489 77 826 78 1419 514 511 190 976 764 10 116 1019 1
Low 1450 2031 1234 544 1117 384 2938 1672 3219 229 480 848 164 1 1088 1769 3 2
Below cutoff 14 2 2 7 2 11 1 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001167608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001349072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047445999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054344174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738988 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001738991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007082541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026955 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX775825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX952174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY640233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC062636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC089404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA434330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB024396 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ570409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA987481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000341329   ⟹   ENSP00000344779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,835,936 - 226,999,215 (+)Ensembl
RefSeq Acc Id: ENST00000392062   ⟹   ENSP00000375914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,836,054 - 226,999,210 (+)Ensembl
RefSeq Acc Id: ENST00000409053   ⟹   ENSP00000387269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,906,712 - 226,988,498 (+)Ensembl
RefSeq Acc Id: ENST00000423616   ⟹   ENSP00000399694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,836,050 - 226,867,206 (+)Ensembl
RefSeq Acc Id: ENST00000424132   ⟹   ENSP00000400765
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,835,581 - 226,865,097 (+)Ensembl
RefSeq Acc Id: ENST00000436481   ⟹   ENSP00000397298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,837,548 - 226,864,856 (+)Ensembl
RefSeq Acc Id: ENST00000437454   ⟹   ENSP00000410384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,836,034 - 226,864,844 (+)Ensembl
RefSeq Acc Id: ENST00000443477   ⟹   ENSP00000414801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,836,044 - 226,864,711 (+)Ensembl
RefSeq Acc Id: ENST00000448992   ⟹   ENSP00000388847
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,836,056 - 226,865,065 (+)Ensembl
RefSeq Acc Id: ENST00000450679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,837,524 - 226,839,607 (+)Ensembl
RefSeq Acc Id: ENST00000473218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,906,851 - 226,914,637 (+)Ensembl
RefSeq Acc Id: ENST00000483268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,935,199 - 226,995,675 (+)Ensembl
RefSeq Acc Id: ENST00000491490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,906,747 - 226,995,755 (+)Ensembl
RefSeq Acc Id: ENST00000493526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,908,221 - 226,995,901 (+)Ensembl
RefSeq Acc Id: ENST00000539613
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2226,836,082 - 226,839,626 (+)Ensembl
RefSeq Acc Id: NM_001167608   ⟹   NP_001161080
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,999,210 (+)NCBI
GRCh372227,700,652 - 227,863,926 (+)NCBI
Celera2221,470,201 - 221,633,451 (+)RGD
HuRef2219,544,272 - 219,707,358 (+)ENTREZGENE
CHM1_12227,706,529 - 227,869,795 (+)NCBI
T2T-CHM13v2.02227,318,747 - 227,481,905 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349069   ⟹   NP_001335998
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,800,159 - 226,999,210 (+)NCBI
T2T-CHM13v2.02227,283,017 - 227,481,905 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349071   ⟹   NP_001336000
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,999,210 (+)NCBI
T2T-CHM13v2.02227,318,747 - 227,481,905 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001349072   ⟹   NP_001336001
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,999,210 (+)NCBI
T2T-CHM13v2.02227,318,747 - 227,481,905 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032276   ⟹   NP_115652
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,999,210 (+)NCBI
GRCh372227,700,652 - 227,863,926 (+)NCBI
Build 362227,409,017 - 227,569,836 (+)NCBI Archive
Celera2221,470,201 - 221,633,451 (+)RGD
HuRef2219,544,272 - 219,707,358 (+)ENTREZGENE
CHM1_12227,706,529 - 227,869,795 (+)NCBI
T2T-CHM13v2.02227,318,747 - 227,481,905 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005083   ⟹   XP_016860572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,999,210 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005084   ⟹   XP_016860573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,999,210 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005085   ⟹   XP_016860574
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,999,210 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005086   ⟹   XP_016860575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,999,210 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005087   ⟹   XP_016860576
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,999,210 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005088   ⟹   XP_016860577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,999,210 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005090   ⟹   XP_016860579
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,999,210 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005092   ⟹   XP_016860581
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,999,210 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017005094   ⟹   XP_016860583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,931,666 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047445981   ⟹   XP_047301937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,989,808 (+)NCBI
RefSeq Acc Id: XM_047445982   ⟹   XP_047301938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,989,808 (+)NCBI
RefSeq Acc Id: XM_047445983   ⟹   XP_047301939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,989,808 (+)NCBI
RefSeq Acc Id: XM_047445984   ⟹   XP_047301940
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,989,808 (+)NCBI
RefSeq Acc Id: XM_047445985   ⟹   XP_047301941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,989,808 (+)NCBI
RefSeq Acc Id: XM_047445986   ⟹   XP_047301942
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,989,808 (+)NCBI
RefSeq Acc Id: XM_047445987   ⟹   XP_047301943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,989,808 (+)NCBI
RefSeq Acc Id: XM_047445988   ⟹   XP_047301944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,989,808 (+)NCBI
RefSeq Acc Id: XM_047445989   ⟹   XP_047301945
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,989,808 (+)NCBI
RefSeq Acc Id: XM_047445991   ⟹   XP_047301947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,989,808 (+)NCBI
RefSeq Acc Id: XM_047445992   ⟹   XP_047301948
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,989,808 (+)NCBI
RefSeq Acc Id: XM_047445993   ⟹   XP_047301949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,989,808 (+)NCBI
RefSeq Acc Id: XM_047445994   ⟹   XP_047301950
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,989,808 (+)NCBI
RefSeq Acc Id: XM_047445995   ⟹   XP_047301951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,999,210 (+)NCBI
RefSeq Acc Id: XM_047445997   ⟹   XP_047301953
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,999,210 (+)NCBI
RefSeq Acc Id: XM_047445998   ⟹   XP_047301954
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,802,439 - 226,999,210 (+)NCBI
RefSeq Acc Id: XM_047445999   ⟹   XP_047301955
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,999,210 (+)NCBI
RefSeq Acc Id: XM_047446000   ⟹   XP_047301956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,931,666 (+)NCBI
RefSeq Acc Id: XM_047446001   ⟹   XP_047301957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,931,666 (+)NCBI
RefSeq Acc Id: XM_047446002   ⟹   XP_047301958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,931,666 (+)NCBI
RefSeq Acc Id: XM_047446004   ⟹   XP_047301960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,931,666 (+)NCBI
RefSeq Acc Id: XM_047446005   ⟹   XP_047301961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,931,666 (+)NCBI
RefSeq Acc Id: XM_047446006   ⟹   XP_047301962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,895,928 (+)NCBI
RefSeq Acc Id: XM_047446007   ⟹   XP_047301963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,895,928 (+)NCBI
RefSeq Acc Id: XM_054344146   ⟹   XP_054200121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,752 - 227,472,503 (+)NCBI
RefSeq Acc Id: XM_054344147   ⟹   XP_054200122
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,747 - 227,472,503 (+)NCBI
RefSeq Acc Id: XM_054344148   ⟹   XP_054200123
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,744 - 227,472,503 (+)NCBI
RefSeq Acc Id: XM_054344149   ⟹   XP_054200124
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,755 - 227,472,503 (+)NCBI
RefSeq Acc Id: XM_054344150   ⟹   XP_054200125
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,747 - 227,472,503 (+)NCBI
RefSeq Acc Id: XM_054344151   ⟹   XP_054200126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,752 - 227,472,503 (+)NCBI
RefSeq Acc Id: XM_054344152   ⟹   XP_054200127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,747 - 227,472,503 (+)NCBI
RefSeq Acc Id: XM_054344153   ⟹   XP_054200128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,750 - 227,472,503 (+)NCBI
RefSeq Acc Id: XM_054344154   ⟹   XP_054200129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,763 - 227,472,503 (+)NCBI
RefSeq Acc Id: XM_054344155   ⟹   XP_054200130
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,755 - 227,472,503 (+)NCBI
RefSeq Acc Id: XM_054344156   ⟹   XP_054200131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,801 - 227,472,503 (+)NCBI
RefSeq Acc Id: XM_054344157   ⟹   XP_054200132
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,747 - 227,472,503 (+)NCBI
RefSeq Acc Id: XM_054344158   ⟹   XP_054200133
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,752 - 227,481,905 (+)NCBI
RefSeq Acc Id: XM_054344159   ⟹   XP_054200134
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,744 - 227,481,905 (+)NCBI
RefSeq Acc Id: XM_054344160   ⟹   XP_054200135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,761 - 227,481,905 (+)NCBI
RefSeq Acc Id: XM_054344161   ⟹   XP_054200136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,752 - 227,481,905 (+)NCBI
RefSeq Acc Id: XM_054344162   ⟹   XP_054200137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,752 - 227,481,905 (+)NCBI
RefSeq Acc Id: XM_054344163   ⟹   XP_054200138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,747 - 227,481,905 (+)NCBI
RefSeq Acc Id: XM_054344164   ⟹   XP_054200139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,752 - 227,481,905 (+)NCBI
RefSeq Acc Id: XM_054344165   ⟹   XP_054200140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,750 - 227,481,905 (+)NCBI
RefSeq Acc Id: XM_054344166   ⟹   XP_054200141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,774 - 227,481,905 (+)NCBI
RefSeq Acc Id: XM_054344167   ⟹   XP_054200142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,737 - 227,481,905 (+)NCBI
RefSeq Acc Id: XM_054344168   ⟹   XP_054200143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,747 - 227,429,305 (+)NCBI
RefSeq Acc Id: XM_054344169   ⟹   XP_054200144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,755 - 227,429,305 (+)NCBI
RefSeq Acc Id: XM_054344170   ⟹   XP_054200145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,752 - 227,429,305 (+)NCBI
RefSeq Acc Id: XM_054344171   ⟹   XP_054200146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,747 - 227,429,305 (+)NCBI
RefSeq Acc Id: XM_054344172   ⟹   XP_054200147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,752 - 227,429,305 (+)NCBI
RefSeq Acc Id: XM_054344173   ⟹   XP_054200148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,752 - 227,429,305 (+)NCBI
RefSeq Acc Id: XM_054344174   ⟹   XP_054200149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,747 - 227,379,597 (+)NCBI
RefSeq Acc Id: XR_007082541
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,054 - 226,989,808 (+)NCBI
RefSeq Acc Id: XR_008486545
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02227,318,752 - 227,472,503 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001161080 (Get FASTA)   NCBI Sequence Viewer  
  NP_001335998 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336000 (Get FASTA)   NCBI Sequence Viewer  
  NP_001336001 (Get FASTA)   NCBI Sequence Viewer  
  NP_115652 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860572 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860573 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860574 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860575 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860576 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860577 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860579 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860581 (Get FASTA)   NCBI Sequence Viewer  
  XP_016860583 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301937 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301938 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301939 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301940 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301941 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301942 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301943 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301944 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301945 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301947 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301948 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301949 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301950 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301951 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301953 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301954 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301955 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301956 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301957 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301958 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301960 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301961 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301962 (Get FASTA)   NCBI Sequence Viewer  
  XP_047301963 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200121 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200122 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200123 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200124 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200125 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200126 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200127 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200128 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200129 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200130 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200131 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200132 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200133 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200134 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200135 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200136 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200137 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200138 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200139 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200140 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200141 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200142 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200143 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200144 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200145 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200146 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200147 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200148 (Get FASTA)   NCBI Sequence Viewer  
  XP_054200149 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH27900 (Get FASTA)   NCBI Sequence Viewer  
  AAH62636 (Get FASTA)   NCBI Sequence Viewer  
  AAH89404 (Get FASTA)   NCBI Sequence Viewer  
  AAI01263 (Get FASTA)   NCBI Sequence Viewer  
  AAI01264 (Get FASTA)   NCBI Sequence Viewer  
  AAI01265 (Get FASTA)   NCBI Sequence Viewer  
  AAI01266 (Get FASTA)   NCBI Sequence Viewer  
  AAI11057 (Get FASTA)   NCBI Sequence Viewer  
  AAU14246 (Get FASTA)   NCBI Sequence Viewer  
  AAY24060 (Get FASTA)   NCBI Sequence Viewer  
  BAB85031 (Get FASTA)   NCBI Sequence Viewer  
  CAC21658 (Get FASTA)   NCBI Sequence Viewer  
  CAE11612 (Get FASTA)   NCBI Sequence Viewer  
  CAF05442 (Get FASTA)   NCBI Sequence Viewer  
  EAW70841 (Get FASTA)   NCBI Sequence Viewer  
  EAW70842 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000344779
  ENSP00000344779.3
  ENSP00000375914
  ENSP00000375914.2
  ENSP00000387269.1
  ENSP00000388847.1
  ENSP00000397298.1
  ENSP00000399694.1
  ENSP00000400765.1
  ENSP00000410384.1
GenBank Protein Q8TEB9 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_115652   ⟸   NM_032276
- UniProtKB: Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot),   Q8TEB9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001161080   ⟸   NM_001167608
- UniProtKB: Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot),   Q8TEB9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860583   ⟸   XM_017005094
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_016860574   ⟸   XM_017005085
- Peptide Label: isoform X2
- UniProtKB: Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot),   Q8TEB9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860576   ⟸   XM_017005087
- Peptide Label: isoform X2
- UniProtKB: Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot),   Q8TEB9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860573   ⟸   XM_017005084
- Peptide Label: isoform X2
- UniProtKB: Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot),   Q8TEB9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860579   ⟸   XM_017005090
- Peptide Label: isoform X2
- UniProtKB: Q495B9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot),   Q8TEB9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860575   ⟸   XM_017005086
- Peptide Label: isoform X2
- UniProtKB: Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot),   Q8TEB9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860581   ⟸   XM_017005092
- Peptide Label: isoform X2
- UniProtKB: Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot),   Q8TEB9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860572   ⟸   XM_017005083
- Peptide Label: isoform X2
- UniProtKB: Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot),   Q8TEB9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016860577   ⟸   XM_017005088
- Peptide Label: isoform X2
- UniProtKB: Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot),   Q8TEB9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001335998   ⟸   NM_001349069
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001336001   ⟸   NM_001349072
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001336000   ⟸   NM_001349071
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000399694   ⟸   ENST00000423616
RefSeq Acc Id: ENSP00000400765   ⟸   ENST00000424132
RefSeq Acc Id: ENSP00000414801   ⟸   ENST00000443477
RefSeq Acc Id: ENSP00000375914   ⟸   ENST00000392062
RefSeq Acc Id: ENSP00000344779   ⟸   ENST00000341329
RefSeq Acc Id: ENSP00000387269   ⟸   ENST00000409053
RefSeq Acc Id: ENSP00000388847   ⟸   ENST00000448992
RefSeq Acc Id: ENSP00000397298   ⟸   ENST00000436481
RefSeq Acc Id: ENSP00000410384   ⟸   ENST00000437454
RefSeq Acc Id: XP_047301954   ⟸   XM_047445998
- Peptide Label: isoform X2
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301951   ⟸   XM_047445995
- Peptide Label: isoform X2
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301955   ⟸   XM_047445999
- Peptide Label: isoform X2
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301953   ⟸   XM_047445997
- Peptide Label: isoform X2
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301937   ⟸   XM_047445981
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301949   ⟸   XM_047445993
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301940   ⟸   XM_047445984
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301943   ⟸   XM_047445987
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301938   ⟸   XM_047445982
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301941   ⟸   XM_047445985
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301945   ⟸   XM_047445989
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301947   ⟸   XM_047445991
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301948   ⟸   XM_047445992
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301939   ⟸   XM_047445983
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301944   ⟸   XM_047445988
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301950   ⟸   XM_047445994
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301942   ⟸   XM_047445986
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047301958   ⟸   XM_047446002
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047301961   ⟸   XM_047446005
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047301957   ⟸   XM_047446001
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047301956   ⟸   XM_047446000
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047301960   ⟸   XM_047446004
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047301963   ⟸   XM_047446007
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047301962   ⟸   XM_047446006
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054200142   ⟸   XM_054344167
- Peptide Label: isoform X2
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200134   ⟸   XM_054344159
- Peptide Label: isoform X2
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200123   ⟸   XM_054344148
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200138   ⟸   XM_054344163
- Peptide Label: isoform X2
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200122   ⟸   XM_054344147
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200127   ⟸   XM_054344152
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200132   ⟸   XM_054344157
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200125   ⟸   XM_054344150
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200143   ⟸   XM_054344168
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054200146   ⟸   XM_054344171
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054200149   ⟸   XM_054344174
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054200140   ⟸   XM_054344165
- Peptide Label: isoform X2
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200128   ⟸   XM_054344153
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200139   ⟸   XM_054344164
- Peptide Label: isoform X2
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200137   ⟸   XM_054344162
- Peptide Label: isoform X2
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200133   ⟸   XM_054344158
- Peptide Label: isoform X2
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200136   ⟸   XM_054344161
- Peptide Label: isoform X2
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200126   ⟸   XM_054344151
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200121   ⟸   XM_054344146
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200145   ⟸   XM_054344170
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054200148   ⟸   XM_054344173
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054200147   ⟸   XM_054344172
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054200124   ⟸   XM_054344149
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200130   ⟸   XM_054344155
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200144   ⟸   XM_054344169
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054200135   ⟸   XM_054344160
- Peptide Label: isoform X2
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200129   ⟸   XM_054344154
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054200141   ⟸   XM_054344166
- Peptide Label: isoform X2
- UniProtKB: Q8TEB9 (UniProtKB/Swiss-Prot),   Q8IV60 (UniProtKB/Swiss-Prot),   Q6P5V8 (UniProtKB/Swiss-Prot),   Q5EBM8 (UniProtKB/Swiss-Prot),   Q53S43 (UniProtKB/Swiss-Prot),   Q495B9 (UniProtKB/Swiss-Prot),   Q9H057 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054200131   ⟸   XM_054344156
- Peptide Label: isoform X1
Protein Domains
Peptidase S54 rhomboid

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8TEB9-F1-model_v2 AlphaFold Q8TEB9 1-315 view protein structure

Promoters
RGD ID:6862982
Promoter ID:EPDNEW_H4656
Type:initiation region
Name:RHBDD1_3
Description:rhomboid domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4659  EPDNEW_H4660  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,795,805 - 226,795,865EPDNEW
RGD ID:6862988
Promoter ID:EPDNEW_H4659
Type:initiation region
Name:RHBDD1_1
Description:rhomboid domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4656  EPDNEW_H4660  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,836,088 - 226,836,148EPDNEW
RGD ID:6862990
Promoter ID:EPDNEW_H4660
Type:initiation region
Name:RHBDD1_2
Description:rhomboid domain containing 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4656  EPDNEW_H4659  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382226,906,735 - 226,906,795EPDNEW
RGD ID:6798076
Promoter ID:HG_KWN:37525
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001167608,   OTTHUMT00000256885,   OTTHUMT00000331344,   OTTHUMT00000331410,   OTTHUMT00000331411,   OTTHUMT00000331412,   OTTHUMT00000331415,   UC010FXC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362227,408,641 - 227,409,141 (+)MPROMDB
RGD ID:6798079
Promoter ID:HG_KWN:37526
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000331413,   OTTHUMT00000331414
Position:
Human AssemblyChrPosition (strand)Source
Build 362227,409,876 - 227,410,952 (+)MPROMDB
RGD ID:6798082
Promoter ID:HG_KWN:37529
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000409053,   OTTHUMT00000331419,   UC002VOJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362227,478,761 - 227,479,652 (+)MPROMDB
RGD ID:6798078
Promoter ID:HG_KWN:37530
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000331417
Position:
Human AssemblyChrPosition (strand)Source
Build 362227,480,666 - 227,481,437 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23081 AgrOrtholog
COSMIC RHBDD1 COSMIC
Ensembl Genes ENSG00000144468 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000341329 ENTREZGENE
  ENST00000341329.7 UniProtKB/Swiss-Prot
  ENST00000392062 ENTREZGENE
  ENST00000392062.7 UniProtKB/Swiss-Prot
  ENST00000409053.1 UniProtKB/TrEMBL
  ENST00000423616.1 UniProtKB/TrEMBL
  ENST00000424132.1 UniProtKB/TrEMBL
  ENST00000436481.1 UniProtKB/TrEMBL
  ENST00000437454.5 UniProtKB/TrEMBL
  ENST00000448992.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.1540.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000144468 GTEx
HGNC ID HGNC:23081 ENTREZGENE
Human Proteome Map RHBDD1 Human Proteome Map
InterPro Peptidase_S54_rhomboid_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhomboid-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84236 UniProtKB/Swiss-Prot
NCBI Gene 84236 ENTREZGENE
OMIM 617515 OMIM
PANTHER RHOMBOID-RELATED PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHOMBOID-RELATED PROTEIN 4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Rhomboid UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA143485593 PharmGKB
Superfamily-SCOP SSF144091 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B9A054_HUMAN UniProtKB/TrEMBL
  C9J1R4_HUMAN UniProtKB/TrEMBL
  C9J4C7_HUMAN UniProtKB/TrEMBL
  C9JAS2_HUMAN UniProtKB/TrEMBL
  C9JQK8_HUMAN UniProtKB/TrEMBL
  C9K011_HUMAN UniProtKB/TrEMBL
  Q495B9 ENTREZGENE
  Q53S43 ENTREZGENE
  Q5EBM8 ENTREZGENE
  Q6P5V8 ENTREZGENE
  Q8IV60 ENTREZGENE
  Q8TEB9 ENTREZGENE
  Q9H057 ENTREZGENE
  RHBL4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q495B9 UniProtKB/Swiss-Prot
  Q53S43 UniProtKB/Swiss-Prot
  Q5EBM8 UniProtKB/Swiss-Prot
  Q6P5V8 UniProtKB/Swiss-Prot
  Q8IV60 UniProtKB/Swiss-Prot
  Q9H057 UniProtKB/Swiss-Prot