C2orf88 (chromosome 2 open reading frame 88) - Rat Genome Database

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Gene: C2orf88 (chromosome 2 open reading frame 88) Homo sapiens
Analyze
Symbol: C2orf88
Name: chromosome 2 open reading frame 88
RGD ID: 1601946
HGNC Page HGNC:28191
Description: Predicted to enable protein kinase A regulatory subunit binding activity. Predicted to be located in plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hypothetical protein LOC84281; MGC13057; smAKAP; small A-kinase anchoring protein; small membrane A-kinase anchor protein; small membrane AKAP; Uncharacterized protein FLJ90687; UPF0733 protein C2orf88
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
GRCh382189,879,562 - 190,203,484 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2189,879,609 - 190,203,484 (+)EnsemblGRCh38hg38GRCh38
GRCh372191,002,503 - 191,068,210 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362190,710,731 - 190,776,455 (+)NCBINCBI36Build 36hg18NCBI36
Celera2184,597,431 - 184,663,252 (+)NCBICelera
Cytogenetic Map2q32.2NCBI
HuRef2182,862,271 - 182,928,103 (+)NCBIHuRef
CHM1_12191,008,368 - 191,074,067 (+)NCBICHM1_1
T2T-CHM13v2.02190,627,278 - 190,693,074 (+)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. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:16189514   PMID:16303743   PMID:16344560   PMID:17207965   PMID:21988832   PMID:22344221   PMID:23115245   PMID:23455922   PMID:23996002   PMID:24962325   PMID:25416956  
PMID:27028580   PMID:27503909   PMID:29117863   PMID:31343991   PMID:31515488   PMID:32296183   PMID:32393512   PMID:32707033  


Genomics

Comparative Map Data
C2orf88
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382189,879,562 - 190,203,484 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2189,879,609 - 190,203,484 (+)EnsemblGRCh38hg38GRCh38
GRCh372191,002,503 - 191,068,210 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362190,710,731 - 190,776,455 (+)NCBINCBI36Build 36hg18NCBI36
Celera2184,597,431 - 184,663,252 (+)NCBICelera
Cytogenetic Map2q32.2NCBI
HuRef2182,862,271 - 182,928,103 (+)NCBIHuRef
CHM1_12191,008,368 - 191,074,067 (+)NCBICHM1_1
T2T-CHM13v2.02190,627,278 - 190,693,074 (+)NCBIT2T-CHM13v2.0
1700019D03Rik
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39152,961,483 - 53,031,816 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl152,961,483 - 53,059,338 (-)EnsemblGRCm39 Ensembl
GRCm38152,922,324 - 52,992,657 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl152,922,324 - 53,020,179 (-)EnsemblGRCm38mm10GRCm38
MGSCv37152,981,971 - 53,009,684 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36152,869,672 - 52,897,385 (-)NCBIMGSCv36mm8
Celera153,465,538 - 53,492,651 (-)NCBICelera
Cytogenetic Map1C1.1NCBI
cM Map126.99NCBI
C9h2orf88
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8956,037,234 - 56,076,793 (+)NCBIGRCr8
mRatBN7.2948,539,140 - 48,584,882 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl948,568,409 - 48,584,831 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx957,086,832 - 57,126,474 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0962,209,667 - 62,249,303 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0960,505,647 - 60,545,289 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0953,395,684 - 53,464,930 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl953,440,272 - 53,440,595 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0953,068,168 - 53,131,324 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4945,558,745 - 45,559,487 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera946,208,942 - 46,278,615 (+)NCBICelera
Cytogenetic Map9q22NCBI
LOC102003714
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554038,797,416 - 8,847,431 (-)NCBIChiLan1.0ChiLan1.0
C13H2orf88
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21392,832,422 - 92,895,809 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B92,847,406 - 92,910,793 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B77,446,455 - 77,509,809 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B195,365,347 - 195,428,651 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B195,424,996 - 195,425,283 (+)Ensemblpanpan1.1panPan2
C37H2orf88
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.137611,530 - 840,144 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl37836,416 - 836,703 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha371,584,925 - 1,796,102 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.037505,545 - 734,425 (+)NCBIROS_Cfam_1.0
UMICH_Zoey_3.137515,749 - 744,781 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.037484,017 - 712,400 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.037512,219 - 741,098 (+)NCBIUU_Cfam_GSD_1.0
CUNH2orf88
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303148,902,554 - 148,951,170 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049365067,883,823 - 7,903,949 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
C15H2orf88
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1594,478,021 - 94,791,775 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11594,628,283 - 94,794,114 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215105,739,108 - 105,827,780 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CUNH2orf88
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11075,573,749 - 75,710,761 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1075,707,093 - 75,707,380 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040123,758,782 - 123,778,605 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
CUNH2orf88
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248545,770,852 - 5,846,616 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in C2orf88
83 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1		 pathogenic
GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1 copy number loss See cases [RCV000052559] Chr2:177874070..198525492 [GRCh38]
Chr2:178738797..199390216 [GRCh37]
Chr2:178447043..199098461 [NCBI36]
Chr2:2q31.2-33.1		 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
NM_005259.3(MSTN):c.373+5G>A single nucleotide variant Myostatin-related muscle hypertrophy [RCV000008144] Chr2:190062219 [GRCh38]
Chr2:190926945 [GRCh37]
Chr2:2q32.2		 pathogenic
NM_005259.3(MSTN):c.163G>A (p.Ala55Thr) single nucleotide variant MSTN-related disorder [RCV003974941]|Myostatin-related muscle hypertrophy [RCV000055913]|not provided [RCV004707901] Chr2:190062434 [GRCh38]
Chr2:190927160 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.458A>G (p.Lys153Arg) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000055914]|not provided [RCV001610341] Chr2:190060351 [GRCh38]
Chr2:190925077 [GRCh37]
Chr2:2q32.2		 pathogenic|benign
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 2q31.2-32.3(chr2:177827730-195125329)x1 copy number loss See cases [RCV000141735] Chr2:177827730..195125329 [GRCh38]
Chr2:178692457..195990053 [GRCh37]
Chr2:178400703..195698298 [NCBI36]
Chr2:2q31.2-32.3		 pathogenic
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1		 pathogenic
GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1 copy number loss See cases [RCV000138253] Chr2:181758701..192015392 [GRCh38]
Chr2:182623428..192880118 [GRCh37]
Chr2:182331673..192588363 [NCBI36]
Chr2:2q31.3-32.3		 pathogenic
GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1 copy number loss See cases [RCV000143484] Chr2:176086763..193201970 [GRCh38]
Chr2:176951491..194066696 [GRCh37]
Chr2:176659737..193774941 [NCBI36]
Chr2:2q31.1-32.3		 pathogenic
NM_005259.3(MSTN):c.306C>T (p.Ser102=) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000289636]|not provided [RCV000884311] Chr2:190062291 [GRCh38]
Chr2:190927017 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.748-3C>T single nucleotide variant Myostatin-related muscle hypertrophy [RCV000372367] Chr2:190057641 [GRCh38]
Chr2:190922367 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_005259.3(MSTN):c.551C>T (p.Thr184Ile) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000319193] Chr2:190060258 [GRCh38]
Chr2:190924984 [GRCh37]
Chr2:2q32.2		 benign|uncertain significance
NM_005259.3(MSTN):c.263G>A (p.Arg88Gln) single nucleotide variant MSTN-related disorder [RCV003940339]|Myostatin-related muscle hypertrophy [RCV000347027]|not provided [RCV000762305] Chr2:190062334 [GRCh38]
Chr2:190927060 [GRCh37]
Chr2:2q32.2		 benign|likely benign|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
NM_005259.3(MSTN):c.386T>G (p.Met129Arg) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000403660]|not provided [RCV000879806] Chr2:190060423 [GRCh38]
Chr2:190925149 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.466C>A (p.Leu156Ile) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000283902] Chr2:190060343 [GRCh38]
Chr2:190925069 [GRCh37]
Chr2:2q32.2		 likely benign
GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1 copy number loss See cases [RCV000239432] Chr2:177315153..196375520 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
NM_005259.3(MSTN):c.*1203G>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV000278586] Chr2:190056055 [GRCh38]
Chr2:190920781 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.674T>C (p.Ile225Thr) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000280530]|not provided [RCV000891357] Chr2:190060135 [GRCh38]
Chr2:190924861 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.*259A>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV000275243] Chr2:190056999 [GRCh38]
Chr2:190921725 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_005259.3(MSTN):c.*41G>T single nucleotide variant Myostatin-related muscle hypertrophy [RCV000276588] Chr2:190057217 [GRCh38]
Chr2:190921943 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_005259.3(MSTN):c.*1362A>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV000332447] Chr2:190055896 [GRCh38]
Chr2:190920622 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.-44GAA[1] microsatellite Myostatin-related muscle hypertrophy [RCV000397391] Chr2:190062635..190062637 [GRCh38]
Chr2:190927361..190927363 [GRCh37]
Chr2:2q32.2		 likely benign
NM_005259.3(MSTN):c.*395A>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV000398216] Chr2:190056863 [GRCh38]
Chr2:190921589 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.*697T>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV000398220] Chr2:190056561 [GRCh38]
Chr2:190921287 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_005259.3(MSTN):c.*1145del deletion Myostatin-related muscle hypertrophy [RCV000338280] Chr2:190056113 [GRCh38]
Chr2:190920839 [GRCh37]
Chr2:2q32.2		 likely benign
NM_005259.3(MSTN):c.*742C>T single nucleotide variant Myostatin-related muscle hypertrophy [RCV000339305]|not provided [RCV004708447] Chr2:190056516 [GRCh38]
Chr2:190921242 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.180C>T (p.Ile60=) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000404459]|not provided [RCV000885041] Chr2:190062417 [GRCh38]
Chr2:190927143 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.*574G>A single nucleotide variant Myostatin-related muscle hypertrophy [RCV000304618] Chr2:190056684 [GRCh38]
Chr2:190921410 [GRCh37]
Chr2:2q32.2		 likely benign
NM_005259.3(MSTN):c.*1514C>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV000385328] Chr2:190055744 [GRCh38]
Chr2:190920470 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.*493G>A single nucleotide variant Myostatin-related muscle hypertrophy [RCV000363928] Chr2:190056765 [GRCh38]
Chr2:190921491 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.*273C>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV000365232]|not provided [RCV004708449] Chr2:190056985 [GRCh38]
Chr2:190921711 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.*290C>T single nucleotide variant Myostatin-related muscle hypertrophy [RCV000310379]|not provided [RCV004708448] Chr2:190056968 [GRCh38]
Chr2:190921694 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.*1450T>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV000295685] Chr2:190055808 [GRCh38]
Chr2:190920534 [GRCh37]
Chr2:2q32.2		 benign|likely benign
NM_005259.3(MSTN):c.*135G>A single nucleotide variant Myostatin-related muscle hypertrophy [RCV000330435]|not provided [RCV004708450] Chr2:190057123 [GRCh38]
Chr2:190921849 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.-17A>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV000350365] Chr2:190062613 [GRCh38]
Chr2:190927339 [GRCh37]
Chr2:2q32.2		 benign|uncertain significance
NM_005259.3(MSTN):c.*1332A>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV000373119] Chr2:190055926 [GRCh38]
Chr2:190920652 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.234A>G (p.Arg78=) single nucleotide variant not provided [RCV000594454] Chr2:190062363 [GRCh38]
Chr2:190927089 [GRCh37]
Chr2:2q32.2		 uncertain significance
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
NM_005259.3(MSTN):c.*923T>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV000284237] Chr2:190056335 [GRCh38]
Chr2:190921061 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.*1073G>T single nucleotide variant Myostatin-related muscle hypertrophy [RCV000405515] Chr2:190056185 [GRCh38]
Chr2:190920911 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.*121A>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV000371068] Chr2:190057137 [GRCh38]
Chr2:190921863 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 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 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 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
NM_005259.3(MSTN):c.748-128C>T single nucleotide variant not provided [RCV001707942] Chr2:190057766 [GRCh38]
Chr2:190922492 [GRCh37]
Chr2:2q32.2		 benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3		 pathogenic
NM_005259.3(MSTN):c.*695A>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV001137516]|not provided [RCV004694848] Chr2:190056563 [GRCh38]
Chr2:190921289 [GRCh37]
Chr2:2q32.2		 uncertain significance
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NM_005259.3(MSTN):c.1085G>A (p.Gly362Glu) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001140503] Chr2:190057301 [GRCh38]
Chr2:190922027 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.*784G>A single nucleotide variant Myostatin-related muscle hypertrophy [RCV001137515] Chr2:190056474 [GRCh38]
Chr2:190921200 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.374-84A>T single nucleotide variant not provided [RCV001669126] Chr2:190060519 [GRCh38]
Chr2:190925245 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.798G>A (p.Arg266=) single nucleotide variant not provided [RCV000973312] Chr2:190057588 [GRCh38]
Chr2:190922314 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.*1316C>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV001142256] Chr2:190055942 [GRCh38]
Chr2:190920668 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.373+90del deletion not provided [RCV001539856] Chr2:190062134 [GRCh38]
Chr2:190926860 [GRCh37]
Chr2:2q32.2		 benign
NM_005259.3(MSTN):c.*1273C>T single nucleotide variant Myostatin-related muscle hypertrophy [RCV001142257] Chr2:190055985 [GRCh38]
Chr2:190920711 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.*336C>A single nucleotide variant Myostatin-related muscle hypertrophy [RCV001139724] Chr2:190056922 [GRCh38]
Chr2:190921648 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.*127T>C single nucleotide variant Myostatin-related muscle hypertrophy [RCV001139725] Chr2:190057131 [GRCh38]
Chr2:190921857 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.747+8A>G single nucleotide variant MSTN-related disorder [RCV003928739]|Myostatin-related muscle hypertrophy [RCV001142348] Chr2:190060054 [GRCh38]
Chr2:190924780 [GRCh37]
Chr2:2q32.2		 benign|likely benign
GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1 copy number loss not provided [RCV001005359] Chr2:174690039..195521582 [GRCh37]
Chr2:2q31.1-32.3		 pathogenic
NM_005259.3(MSTN):c.*1063A>G single nucleotide variant Myostatin-related muscle hypertrophy [RCV001137514] Chr2:190056195 [GRCh38]
Chr2:190920921 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.547G>C (p.Gly183Arg) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001142349] Chr2:190060262 [GRCh38]
Chr2:190924988 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.513G>A (p.Val171=) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001142351] Chr2:190060296 [GRCh38]
Chr2:190925022 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.-99G>A single nucleotide variant Myostatin-related muscle hypertrophy [RCV001139829] Chr2:190062695 [GRCh38]
Chr2:190927421 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.897C>T (p.Ile299=) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001140504] Chr2:190057489 [GRCh38]
Chr2:190922215 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.796A>C (p.Arg266=) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001140505] Chr2:190057590 [GRCh38]
Chr2:190922316 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.516A>C (p.Gln172His) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001142350] Chr2:190060293 [GRCh38]
Chr2:190925019 [GRCh37]
Chr2:2q32.2		 likely benign
NM_005259.3(MSTN):c.*40G>T single nucleotide variant Myostatin-related muscle hypertrophy [RCV001140502] Chr2:190057218 [GRCh38]
Chr2:190921944 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 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 2q32.2-33.1(chr2:190345272-200212289) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV001255693] Chr2:190345272..200212289 [GRCh37]
Chr2:2q32.2-33.1		 pathogenic
GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3 copy number gain not provided [RCV001258567] Chr2:188294864..197731939 [GRCh37]
Chr2:2q32.1-33.1		 likely pathogenic
NM_005259.3(MSTN):c.374-130G>A single nucleotide variant not provided [RCV001539260] Chr2:190060565 [GRCh38]
Chr2:190925291 [GRCh37]
Chr2:2q32.2		 benign
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
GRCh37/hg19 2q32.2(chr2:190819533-191102271)x3 copy number gain not provided [RCV002473459] Chr2:190819533..191102271 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.701G>A (p.Gly234Asp) single nucleotide variant not specified [RCV004178217] Chr2:190060108 [GRCh38]
Chr2:190924834 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.739G>A (p.Asp247Asn) single nucleotide variant not specified [RCV004224452] Chr2:190060070 [GRCh38]
Chr2:190924796 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.529A>C (p.Ile177Leu) single nucleotide variant not specified [RCV004210918] Chr2:190060280 [GRCh38]
Chr2:190925006 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.89A>C (p.Lys30Thr) single nucleotide variant not specified [RCV004233950] Chr2:190062508 [GRCh38]
Chr2:190927234 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.639A>C (p.Gln213His) single nucleotide variant not specified [RCV004145856] Chr2:190060170 [GRCh38]
Chr2:190924896 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.496C>T (p.Pro166Ser) single nucleotide variant not specified [RCV004225387] Chr2:190060313 [GRCh38]
Chr2:190925039 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.1112G>A (p.Arg371His) single nucleotide variant not specified [RCV004223262] Chr2:190057274 [GRCh38]
Chr2:190922000 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.916G>A (p.Ala306Thr) single nucleotide variant not specified [RCV004274849] Chr2:190057470 [GRCh38]
Chr2:190922196 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.150T>C (p.Ser50=) single nucleotide variant not provided [RCV003440109] Chr2:190062447 [GRCh38]
Chr2:190927173 [GRCh37]
Chr2:2q32.2		 likely benign
NM_005259.3(MSTN):c.194G>A (p.Arg65His) single nucleotide variant MSTN-related disorder [RCV003964644] Chr2:190062403 [GRCh38]
Chr2:190927129 [GRCh37]
Chr2:2q32.2		 likely benign
NM_005259.3(MSTN):c.1101G>A (p.Met367Ile) single nucleotide variant not specified [RCV004503695] Chr2:190057285 [GRCh38]
Chr2:190922011 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.721T>C (p.Phe241Leu) single nucleotide variant not specified [RCV004503715] Chr2:190060088 [GRCh38]
Chr2:190924814 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.995C>G (p.Pro332Arg) single nucleotide variant not specified [RCV004503723] Chr2:190057391 [GRCh38]
Chr2:190922117 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.538A>G (p.Met180Val) single nucleotide variant not specified [RCV004503708] Chr2:190060271 [GRCh38]
Chr2:190924997 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.1111C>T (p.Arg371Cys) single nucleotide variant not specified [RCV004503696] Chr2:190057275 [GRCh38]
Chr2:190922001 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.164C>T (p.Ala55Val) single nucleotide variant not specified [RCV004503699] Chr2:190062433 [GRCh38]
Chr2:190927159 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.406A>C (p.Lys136Gln) single nucleotide variant not specified [RCV004503702] Chr2:190060403 [GRCh38]
Chr2:190925129 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.45G>A (p.Leu15=) single nucleotide variant MSTN-related disorder [RCV004759121] Chr2:190062552 [GRCh38]
Chr2:190927278 [GRCh37]
Chr2:2q32.2		 likely benign
NM_005259.3(MSTN):c.634T>G (p.Leu212Val) single nucleotide variant not specified [RCV004503710] Chr2:190060175 [GRCh38]
Chr2:190924901 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.1062T>C (p.Asn354=) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000317681] Chr2:190057324 [GRCh38]
Chr2:190922050 [GRCh37]
Chr2:2q32.2		 likely benign|uncertain significance
NM_005259.3(MSTN):c.490G>A (p.Glu164Lys) single nucleotide variant Myostatin-related muscle hypertrophy [RCV000376122]|not provided [RCV000960832] Chr2:190060319 [GRCh38]
Chr2:190925045 [GRCh37]
Chr2:2q32.2		 benign|likely benign
GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1 copy number loss not provided [RCV000740789] Chr2:189490490..200615496 [GRCh37]
Chr2:2q32.2-33.1		 pathogenic
NM_005259.3(MSTN):c.98T>C (p.Val33Ala) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001137605] Chr2:190062499 [GRCh38]
Chr2:190927225 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.453A>G (p.Val151=) single nucleotide variant Myostatin-related muscle hypertrophy [RCV001137604] Chr2:190060356 [GRCh38]
Chr2:190925082 [GRCh37]
Chr2:2q32.2		 uncertain significance
NC_000002.11:g.(?_189839216)_(192012929_?)dup duplication Immunodeficiency 31B [RCV003107719]|not provided [RCV003113217] Chr2:189839216..192012929 [GRCh37]
Chr2:2q32.2-32.3		 uncertain significance|no classifications from unflagged records
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 2q32.1-33.1(chr2:187152754-199960525)x1 copy number loss not provided [RCV002472632] Chr2:187152754..199960525 [GRCh37]
Chr2:2q32.1-33.1		 pathogenic
NM_001042519.2(C2orf88):c.138G>C (p.Glu46Asp) single nucleotide variant not specified [RCV004076553] Chr2:190199998 [GRCh38]
Chr2:191064724 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.881G>C (p.Gly294Ala) single nucleotide variant not specified [RCV004178386] Chr2:190057505 [GRCh38]
Chr2:190922231 [GRCh37]
Chr2:2q32.2		 uncertain significance
NM_005259.3(MSTN):c.730C>G (p.Pro244Ala) single nucleotide variant not specified [RCV004299914] Chr2:190060079 [GRCh38]
Chr2:190924805 [GRCh37]
Chr2:2q32.2		 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
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2173
Count of miRNA genes:1071
Interacting mature miRNAs:1288
Transcripts:ENST00000340623, ENST00000396974, ENST00000409545, ENST00000409870, ENST00000443551, ENST00000450357, ENST00000478197, ENST00000490033, ENST00000495546
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
406996886GWAS645862_Hreticulocyte measurement QTL GWAS645862 (human)1e-11reticulocyte morphology trait (VT:0002424)red blood cell measurement (CMO:0001356)2190184677190184678Human
406992527GWAS641503_Hreticulocyte count QTL GWAS641503 (human)3e-11reticulocyte counttotal reticulocyte count (CMO:0003020)2190184677190184678Human

Markers in Region
RH94194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,054,630 - 191,054,782UniSTSGRCh37
Build 362190,762,875 - 190,763,027RGDNCBI36
Celera2184,649,672 - 184,649,824RGD
Cytogenetic Map2q32.2UniSTS
HuRef2182,914,520 - 182,914,672UniSTS
GeneMap99-GB4 RH Map2615.78UniSTS
RH93597  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,067,971 - 191,068,050UniSTSGRCh37
Build 362190,776,216 - 190,776,295RGDNCBI36
Celera2184,663,013 - 184,663,092RGD
Cytogenetic Map2q32.2UniSTS
HuRef2182,927,864 - 182,927,943UniSTS
GeneMap99-GB4 RH Map2607.5UniSTS
G59581  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,063,203 - 191,063,336UniSTSGRCh37
Build 362190,771,448 - 190,771,581RGDNCBI36
Celera2184,658,245 - 184,658,378RGD
Cytogenetic Map2q32.2UniSTS
HuRef2182,923,099 - 182,923,232UniSTS
TNG Radiation Hybrid Map2104917.0UniSTS
SHGC-35899  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,067,683 - 191,067,782UniSTSGRCh37
Build 362190,775,928 - 190,776,027RGDNCBI36
Celera2184,662,725 - 184,662,824RGD
Cytogenetic Map2q32.2UniSTS
HuRef2182,927,576 - 182,927,675UniSTS
GeneMap99-G3 RH Map28641.0UniSTS
RH69372  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,068,045 - 191,068,200UniSTSGRCh37
Build 362190,776,290 - 190,776,445RGDNCBI36
Celera2184,663,087 - 184,663,242RGD
Cytogenetic Map2q32.2UniSTS
HuRef2182,927,938 - 182,928,093UniSTS
GeneMap99-GB4 RH Map2605.07UniSTS
NCBI RH Map21500.6UniSTS
WIAF-2135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372191,063,194 - 191,063,348UniSTSGRCh37
Build 362190,771,439 - 190,771,593RGDNCBI36
Celera2184,658,236 - 184,658,390RGD
Cytogenetic Map2q32.2UniSTS
HuRef2182,923,090 - 182,923,244UniSTS
GeneMap99-GB4 RH Map2605.07UniSTS
NCBI RH Map21500.6UniSTS


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
1204 2435 2788 2249 4951 1720 2343 3 624 1926 464 2258 7266 6439 49 3724 1 848 1738 1610 173

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001042519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005246905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006712795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511985 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017005096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047446009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC019178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC096650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313395 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU567236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA247977 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA389238 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000340623   ⟹   ENSP00000345107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2190,180,863 - 190,203,484 (+)Ensembl
Ensembl Acc Id: ENST00000396974   ⟹   ENSP00000380172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2190,137,760 - 190,200,479 (+)Ensembl
Ensembl Acc Id: ENST00000409545   ⟹   ENSP00000386976
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2190,150,246 - 190,200,063 (+)Ensembl
Ensembl Acc Id: ENST00000409870   ⟹   ENSP00000386649
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2190,180,482 - 190,200,209 (+)Ensembl
Ensembl Acc Id: ENST00000443551   ⟹   ENSP00000405225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2190,180,955 - 190,200,214 (+)Ensembl
Ensembl Acc Id: ENST00000450357   ⟹   ENSP00000394370
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2190,089,576 - 190,199,950 (+)Ensembl
Ensembl Acc Id: ENST00000478197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,879,609 - 190,079,570 (+)Ensembl
Ensembl Acc Id: ENST00000490033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2190,089,541 - 190,199,827 (+)Ensembl
Ensembl Acc Id: ENST00000495546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2189,879,627 - 190,164,051 (+)Ensembl
RefSeq Acc Id: NM_001042519   ⟹   NP_001035984
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,180,863 - 190,203,484 (+)NCBI
GRCh372190,744,282 - 191,068,210 (+)NCBI
Build 362190,753,834 - 190,776,455 (+)NCBI Archive
Celera2184,597,431 - 184,663,252 (+)RGD
HuRef2182,862,271 - 182,928,103 (+)RGD
CHM1_12191,051,450 - 191,074,067 (+)NCBI
T2T-CHM13v2.02190,670,449 - 190,693,074 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001042520   ⟹   NP_001035985
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,150,246 - 190,203,484 (+)NCBI
GRCh372190,744,282 - 191,068,210 (+)NCBI
Build 362190,723,217 - 190,776,455 (+)NCBI Archive
Celera2184,597,431 - 184,663,252 (+)RGD
HuRef2182,862,271 - 182,928,103 (+)RGD
CHM1_12191,020,846 - 191,074,067 (+)NCBI
T2T-CHM13v2.02190,639,825 - 190,693,074 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001042521   ⟹   NP_001035986
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,137,777 - 190,203,484 (+)NCBI
GRCh372190,744,282 - 191,068,210 (+)NCBI
Build 362190,710,731 - 190,776,455 (+)NCBI Archive
Celera2184,597,431 - 184,663,252 (+)RGD
HuRef2182,862,271 - 182,928,103 (+)RGD
CHM1_12191,008,368 - 191,074,067 (+)NCBI
T2T-CHM13v2.02190,627,278 - 190,693,074 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032321   ⟹   NP_115697
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,180,863 - 190,203,484 (+)NCBI
GRCh372190,744,282 - 191,068,210 (+)NCBI
Build 362190,753,926 - 190,776,455 (+)NCBI Archive
Celera2184,597,431 - 184,663,252 (+)RGD
HuRef2182,862,271 - 182,928,103 (+)RGD
CHM1_12191,051,542 - 191,074,067 (+)NCBI
T2T-CHM13v2.02190,670,449 - 190,693,074 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511983   ⟹   XP_011510285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,090,383 - 190,203,484 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047446008   ⟹   XP_047301964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,879,562 - 190,203,484 (+)NCBI
RefSeq Acc Id: XM_047446009   ⟹   XP_047301965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382189,879,562 - 190,203,484 (+)NCBI
RefSeq Acc Id: NP_001035986   ⟸   NM_001042521
- UniProtKB: P0C876 (UniProtKB/Swiss-Prot),   D3DPI3 (UniProtKB/Swiss-Prot),   Q53TC7 (UniProtKB/Swiss-Prot),   Q9BSF0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035984   ⟸   NM_001042519
- UniProtKB: P0C876 (UniProtKB/Swiss-Prot),   D3DPI3 (UniProtKB/Swiss-Prot),   Q53TC7 (UniProtKB/Swiss-Prot),   Q9BSF0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_115697   ⟸   NM_032321
- UniProtKB: P0C876 (UniProtKB/Swiss-Prot),   D3DPI3 (UniProtKB/Swiss-Prot),   Q53TC7 (UniProtKB/Swiss-Prot),   Q9BSF0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001035985   ⟸   NM_001042520
- UniProtKB: P0C876 (UniProtKB/Swiss-Prot),   D3DPI3 (UniProtKB/Swiss-Prot),   Q53TC7 (UniProtKB/Swiss-Prot),   Q9BSF0 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011510285   ⟸   XM_011511983
- Peptide Label: isoform X1
- UniProtKB: P0C876 (UniProtKB/Swiss-Prot),   D3DPI3 (UniProtKB/Swiss-Prot),   Q53TC7 (UniProtKB/Swiss-Prot),   Q9BSF0 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000394370   ⟸   ENST00000450357
Ensembl Acc Id: ENSP00000405225   ⟸   ENST00000443551
Ensembl Acc Id: ENSP00000345107   ⟸   ENST00000340623
Ensembl Acc Id: ENSP00000386649   ⟸   ENST00000409870
Ensembl Acc Id: ENSP00000386976   ⟸   ENST00000409545
Ensembl Acc Id: ENSP00000380172   ⟸   ENST00000396974
RefSeq Acc Id: XP_047301964   ⟸   XM_047446008
- Peptide Label: isoform X1
- UniProtKB: Q9BSF0 (UniProtKB/Swiss-Prot),   P0C876 (UniProtKB/Swiss-Prot),   D3DPI3 (UniProtKB/Swiss-Prot),   Q53TC7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047301965   ⟸   XM_047446009
- Peptide Label: isoform X1
- UniProtKB: Q9BSF0 (UniProtKB/Swiss-Prot),   P0C876 (UniProtKB/Swiss-Prot),   D3DPI3 (UniProtKB/Swiss-Prot),   Q53TC7 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BSF0-F1-model_v2 AlphaFold Q9BSF0 1-95 view protein structure

Promoters
RGD ID:6862376
Promoter ID:EPDNEW_H4334
Type:initiation region
Name:C2orf88_1
Description:chromosome 2 open reading frame 88
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382190,180,870 - 190,180,930EPDNEW
RGD ID:6797337
Promoter ID:HG_KWN:36362
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:ENST00000409870,   NM_001042519,   NM_032321
Position:
Human AssemblyChrPosition (strand)Source
Build 362190,753,316 - 190,754,042 (+)MPROMDB
RGD ID:6797813
Promoter ID:HG_KWN:36364
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC010FSA.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362190,772,836 - 190,773,336 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:28191 AgrOrtholog
COSMIC C2orf88 COSMIC
Ensembl Genes ENSG00000187699 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000340623 ENTREZGENE
  ENST00000340623.4 UniProtKB/Swiss-Prot
  ENST00000396974 ENTREZGENE
  ENST00000396974.2 UniProtKB/Swiss-Prot
  ENST00000409545.2 UniProtKB/TrEMBL
  ENST00000409870.1 UniProtKB/Swiss-Prot
  ENST00000443551 ENTREZGENE
  ENST00000443551.2 UniProtKB/Swiss-Prot
  ENST00000450357.5 UniProtKB/TrEMBL
GTEx ENSG00000187699 GTEx
HGNC ID HGNC:28191 ENTREZGENE
Human Proteome Map C2orf88 Human Proteome Map
InterPro Small_membr_AKAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:84281 UniProtKB/Swiss-Prot
NCBI Gene 84281 ENTREZGENE
OMIM 615117 OMIM
PANTHER PTHR36471 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMALL MEMBRANE A-KINASE ANCHOR PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SmAKAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA164717227 PharmGKB
UniProt C9JS57_HUMAN UniProtKB/TrEMBL
  D3DPI3 ENTREZGENE
  H7BZ15_HUMAN UniProtKB/TrEMBL
  P0C876 ENTREZGENE
  Q53TC7 ENTREZGENE
  Q9BSF0 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary D3DPI3 UniProtKB/Swiss-Prot
  P0C876 UniProtKB/Swiss-Prot
  Q53TC7 UniProtKB/Swiss-Prot