RESP18 (regulated endocrine specific protein 18) - Rat Genome Database

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Gene: RESP18 (regulated endocrine specific protein 18) Homo sapiens
Analyze
Symbol: RESP18
Name: regulated endocrine specific protein 18
RGD ID: 2305853
HGNC Page HGNC:33762
Description: Predicted to act upstream of or within in utero embryonic development. Predicted to be located in Golgi apparatus and cytoplasmic vesicle. Predicted to be active in endoplasmic reticulum.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: regulated endocrine-specific protein 18; regulated endocrine-specific protein 18 homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,327,407 - 219,336,656 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,327,407 - 219,333,177 (-)EnsemblGRCh38hg38GRCh38
GRCh372220,192,129 - 220,197,899 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,900,375 - 219,906,143 (-)NCBINCBI36Build 36hg18NCBI36
Celera2213,962,131 - 213,967,896 (-)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2212,045,173 - 212,050,937 (-)NCBIHuRef
CHM1_12220,197,974 - 220,203,727 (-)NCBICHM1_1
T2T-CHM13v2.02219,812,175 - 219,821,424 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Polydactyly  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Targeted disruption of regulated endocrine-specific protein ( Resp18) in Dahl SS/Mcw rats aggravates salt-induced hypertension and renal injury. Kumarasamy S, etal., Physiol Genomics. 2018 May 1;50(5):369-375. doi: 10.1152/physiolgenomics.00008.2018. Epub 2018 Mar 23.
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7988462   PMID:17951542   PMID:21873635   PMID:23319378   PMID:26836020  


Genomics

Comparative Map Data
RESP18
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382219,327,407 - 219,336,656 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2219,327,407 - 219,333,177 (-)EnsemblGRCh38hg38GRCh38
GRCh372220,192,129 - 220,197,899 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362219,900,375 - 219,906,143 (-)NCBINCBI36Build 36hg18NCBI36
Celera2213,962,131 - 213,967,896 (-)NCBICelera
Cytogenetic Map2q35NCBI
HuRef2212,045,173 - 212,050,937 (-)NCBIHuRef
CHM1_12220,197,974 - 220,203,727 (-)NCBICHM1_1
T2T-CHM13v2.02219,812,175 - 219,821,424 (-)NCBIT2T-CHM13v2.0
Resp18
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39175,248,841 - 75,255,059 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl175,248,843 - 75,255,059 (-)EnsemblGRCm39 Ensembl
GRCm38175,272,197 - 75,278,415 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl175,272,199 - 75,278,415 (-)EnsemblGRCm38mm10GRCm38
MGSCv37175,268,777 - 75,274,955 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36175,155,350 - 75,161,528 (-)NCBIMGSCv36mm8
Celera175,763,036 - 75,769,217 (-)NCBICelera
Cytogenetic Map1C4NCBI
cM Map138.65NCBI
Resp18
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8984,213,844 - 84,220,186 (-)NCBIGRCr8
mRatBN7.2976,765,179 - 76,771,824 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl976,764,590 - 76,778,722 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx985,209,715 - 85,216,056 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0990,338,603 - 90,344,944 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0988,724,817 - 88,731,158 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0982,470,794 - 82,477,136 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl982,470,759 - 82,477,181 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0982,240,055 - 82,246,695 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4974,551,809 - 74,558,151 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1974,698,790 - 74,705,133 (-)NCBI
Celera974,335,568 - 74,341,910 (-)NCBICelera
Cytogenetic Map9q33NCBI
Resp18
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495545314,106,430 - 14,111,920 (+)NCBIChiLan1.0ChiLan1.0
RESP18
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213121,957,498 - 121,964,196 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B121,972,446 - 121,983,317 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B106,584,632 - 106,590,704 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B225,175,198 - 225,180,916 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B225,175,221 - 225,180,916 (-)Ensemblpanpan1.1panPan2
Resp18
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303175,388,977 - 175,394,900 (-)NCBIHiC_Itri_2
SpeTri2.0NW_0049365691,731,756 - 1,737,679 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RESP18
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.115121,364,165 - 121,371,430 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215134,397,624 - 134,404,845 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RESP18
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.110105,230,482 - 105,235,907 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl10105,230,560 - 105,235,766 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604094,162,499 - 94,167,915 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Resp18
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248235,688,508 - 5,693,522 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RESP18
10 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000002.11:g.(?_220150706)_(220290732_?)dup duplication Neuronopathy, distal hereditary motor, autosomal recessive 5 [RCV000552669] Chr2:219285984..219426010 [GRCh38]
Chr2:220150706..220290732 [GRCh37]
Chr2:2q35		 uncertain 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 2q35-36.3(chr2:219081620-225430308)x1 copy number loss See cases [RCV000052634] Chr2:219081620..225430308 [GRCh38]
Chr2:219946342..226295024 [GRCh37]
Chr2:219654586..226003268 [NCBI36]
Chr2:2q35-36.3		 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 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 2q35(chr2:219081620-219758878)x3 copy number gain See cases [RCV000138093] Chr2:219081620..219758878 [GRCh38]
Chr2:219946342..220623600 [GRCh37]
Chr2:219654586..220331844 [NCBI36]
Chr2:2q35		 uncertain significance
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
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 2q35-36.3(chr2:217374144-227643620)x1 copy number loss not provided [RCV000585275] Chr2:217374144..227643620 [GRCh37]
Chr2:2q35-36.3		 likely pathogenic
Single allele deletion Polydactyly [RCV000736029] Chr2:219925666..220914504 [GRCh37]
Chr2:2q35		 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 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 2q34-37.3(chr2:213518431-242783384)x3 copy number gain See cases [RCV000512009] Chr2:213518431..242783384 [GRCh37]
Chr2:2q34-37.3		 pathogenic
GRCh37/hg19 2q35(chr2:219275536-220266647)x3 copy number gain See cases [RCV000511655] Chr2:219275536..220266647 [GRCh37]
Chr2:2q35		 uncertain significance
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_001007089.4(RESP18):c.200G>A (p.Cys67Tyr) single nucleotide variant Inborn genetic diseases [RCV003254855] Chr2:219332556 [GRCh38]
Chr2:220197278 [GRCh37]
Chr2:2q35		 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 2q35-36.3(chr2:218813434-227450699)x1 copy number loss not provided [RCV000682163] Chr2:218813434..227450699 [GRCh37]
Chr2:2q35-36.3		 pathogenic
NC_000002.11:g.(?_219135239)_(220290732_?)del deletion Desmin-related myofibrillar myopathy [RCV000707774] Chr2:219135239..220290732 [GRCh37]
Chr2:2q35		 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
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
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 2q35(chr2:219879593-220346596)x3 copy number gain not provided [RCV000847670] Chr2:219879593..220346596 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001007089.4(RESP18):c.404T>C (p.Leu135Pro) single nucleotide variant Inborn genetic diseases [RCV003241356] Chr2:219329698 [GRCh38]
Chr2:220194420 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35(chr2:216883237-220953003)x3 copy number gain not provided [RCV001007510] Chr2:216883237..220953003 [GRCh37]
Chr2:2q35		 pathogenic
GRCh37/hg19 2q34-35(chr2:215122019-220397907)x1 copy number loss not provided [RCV001259180] Chr2:215122019..220397907 [GRCh37]
Chr2:2q34-35		 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 2q35-36.3(chr2:220056891-227164817)x1 copy number loss not provided [RCV001537914] Chr2:220056891..227164817 [GRCh37]
Chr2:2q35-36.3		 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 2q34-36.1(chr2:215108009-221679980) copy number gain not specified [RCV002053282] Chr2:215108009..221679980 [GRCh37]
Chr2:2q34-36.1		 pathogenic
NC_000002.11:g.(?_218999525)_(220435954_?)dup duplication Alacrima, achalasia, and intellectual disability syndrome [RCV001955103]|Paroxysmal nonkinesigenic dyskinesia [RCV001962531] Chr2:218999525..220435954 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001007089.4(RESP18):c.481G>C (p.Val161Leu) single nucleotide variant Inborn genetic diseases [RCV002991874] Chr2:219329237 [GRCh38]
Chr2:220193959 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001007089.4(RESP18):c.638T>C (p.Met213Thr) single nucleotide variant Inborn genetic diseases [RCV002794725] Chr2:219328926 [GRCh38]
Chr2:220193648 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001007089.4(RESP18):c.142T>A (p.Trp48Arg) single nucleotide variant Inborn genetic diseases [RCV002969650] Chr2:219332614 [GRCh38]
Chr2:220197336 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001007089.4(RESP18):c.480G>C (p.Lys160Asn) single nucleotide variant Inborn genetic diseases [RCV002737001] Chr2:219329238 [GRCh38]
Chr2:220193960 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001007089.4(RESP18):c.131A>G (p.Gln44Arg) single nucleotide variant Inborn genetic diseases [RCV002940039] Chr2:219332625 [GRCh38]
Chr2:220197347 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001007089.4(RESP18):c.26T>G (p.Val9Gly) single nucleotide variant Inborn genetic diseases [RCV003192673] Chr2:219332730 [GRCh38]
Chr2:220197452 [GRCh37]
Chr2:2q35		 uncertain significance
NM_001007089.4(RESP18):c.23G>A (p.Gly8Glu) single nucleotide variant Inborn genetic diseases [RCV003264565] Chr2:219332733 [GRCh38]
Chr2:220197455 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_001007089.4(RESP18):c.326T>C (p.Ile109Thr) single nucleotide variant Inborn genetic diseases [RCV003376599] Chr2:219330782 [GRCh38]
Chr2:220195504 [GRCh37]
Chr2:2q35		 uncertain significance
GRCh37/hg19 2q35(chr2:220169575-220625221)x3 copy number gain not provided [RCV003484089] Chr2:220169575..220625221 [GRCh37]
Chr2:2q35		 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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:723
Count of miRNA genes:404
Interacting mature miRNAs:445
Transcripts:ENST00000333527, ENST00000392083, ENST00000470719
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage
High
Medium 648
Low 23 10 109 9 20 18 1758 1 351 4 1 12
Below cutoff 865 889 342 55 528 40 966 796 631 25 206 357 18 193 697

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000333527   ⟹   ENSP00000330269
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,327,407 - 219,333,177 (-)Ensembl
RefSeq Acc Id: ENST00000392083   ⟹   ENSP00000375933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,327,409 - 219,332,629 (-)Ensembl
RefSeq Acc Id: ENST00000470719
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2219,327,409 - 219,331,178 (-)Ensembl
RefSeq Acc Id: NM_001007089   ⟹   NP_001007090
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,327,407 - 219,333,177 (-)NCBI
GRCh372220,192,131 - 220,197,899 (-)RGD
Celera2213,962,131 - 213,967,896 (-)RGD
HuRef2212,045,173 - 212,050,937 (-)ENTREZGENE
CHM1_12220,197,974 - 220,203,727 (-)NCBI
T2T-CHM13v2.02219,812,175 - 219,817,945 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452881   ⟹   XP_024308649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,327,407 - 219,330,970 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047444273   ⟹   XP_047300229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,327,407 - 219,336,656 (-)NCBI
RefSeq Acc Id: XM_047444274   ⟹   XP_047300230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382219,327,407 - 219,335,545 (-)NCBI
RefSeq Acc Id: XM_054341981   ⟹   XP_054197956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,812,177 - 219,815,738 (-)NCBI
RefSeq Acc Id: XM_054341982   ⟹   XP_054197957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,812,200 - 219,821,424 (-)NCBI
RefSeq Acc Id: XM_054341983   ⟹   XP_054197958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02219,812,200 - 219,820,313 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001007090   ⟸   NM_001007089
- UniProtKB: Q38I23 (UniProtKB/Swiss-Prot),   A8MQ49 (UniProtKB/Swiss-Prot),   Q5W5X0 (UniProtKB/Swiss-Prot),   Q5W5W9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024308649   ⟸   XM_024452881
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000330269   ⟸   ENST00000333527
RefSeq Acc Id: ENSP00000375933   ⟸   ENST00000392083
RefSeq Acc Id: XP_047300229   ⟸   XM_047444273
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047300230   ⟸   XM_047444274
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054197956   ⟸   XM_054341981
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054197957   ⟸   XM_054341982
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054197958   ⟸   XM_054341983
- Peptide Label: isoform X2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5W5W9-F1-model_v2 AlphaFold Q5W5W9 1-228 view protein structure


Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:33762 AgrOrtholog
COSMIC RESP18 COSMIC
Ensembl Genes ENSG00000182698 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000333527 ENTREZGENE
  ENST00000333527.6 UniProtKB/Swiss-Prot
  ENST00000392083.5 UniProtKB/Swiss-Prot
GTEx ENSG00000182698 GTEx
HGNC ID HGNC:33762 ENTREZGENE
Human Proteome Map RESP18 Human Proteome Map
InterPro RESP18 UniProtKB/Swiss-Prot
  RESP18_dom UniProtKB/Swiss-Prot
KEGG Report hsa:389075 UniProtKB/Swiss-Prot
NCBI Gene 389075 ENTREZGENE
OMIM 612721 OMIM
PANTHER PTHR17314 UniProtKB/Swiss-Prot
  REGULATED ENDOCRINE-SPECIFIC PROTEIN 18 UniProtKB/Swiss-Prot
Pfam RESP18 UniProtKB/Swiss-Prot
PharmGKB PA166049014 PharmGKB
SMART RESP18 UniProtKB/Swiss-Prot
UniProt A8MQ49 ENTREZGENE
  Q38I23 ENTREZGENE
  Q5W5W9 ENTREZGENE
  Q5W5X0 ENTREZGENE
  RES18_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8MQ49 UniProtKB/Swiss-Prot
  Q38I23 UniProtKB/Swiss-Prot
  Q5W5X0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 RESP18  regulated endocrine specific protein 18    regulated endocrine-specific protein 18  Symbol and/or name change 5135510 APPROVED
2012-12-12 RESP18  regulated endocrine-specific protein 18    regulated endocrine-specific protein 18 homolog (rat)  Symbol and/or name change 5135510 APPROVED
2011-07-27 RESP18  regulated endocrine-specific protein 18 homolog (rat)  RESP18  regulated endocrine-specific protein 18  Symbol and/or name change 5135510 APPROVED