TMEM8B (transmembrane protein 8B) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: TMEM8B (transmembrane protein 8B) Homo sapiens
Analyze
Symbol: TMEM8B
Name: transmembrane protein 8B
RGD ID: 1320668
HGNC Page HGNC:21427
Description: Involved in cell-matrix adhesion. Located in cell surface and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C9orf127; FP588; LINC00950; long intergenic non-protein coding RNA 950; MGC120460; NAG-5; NAG5; nasopharyngeal carcinoma expressed 6; nasopharyngeal carcinoma related protein; nasopharyngeal carcinoma-associated gene 6 protein; NGX6; NGX6a; RP11-112J3.10
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
GRCh38935,829,228 - 35,865,515 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl935,814,451 - 35,865,518 (+)EnsemblGRCh38hg38GRCh38
GRCh37935,829,225 - 35,865,512 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,819,222 - 35,844,844 (+)NCBINCBI36Build 36hg18NCBI36
Celera935,762,754 - 35,788,379 (+)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef935,785,163 - 35,810,849 (+)NCBIHuRef
CHM1_1935,829,610 - 35,855,233 (+)NCBICHM1_1
T2T-CHM13v2.0935,849,899 - 35,886,190 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:8619474   PMID:9110174   PMID:11565907   PMID:12474055   PMID:12477932   PMID:12918109   PMID:14702039   PMID:15164053   PMID:15489334   PMID:15498789   PMID:15498874   PMID:15723283  
PMID:16713569   PMID:17270023   PMID:17641538   PMID:19499154   PMID:19755717   PMID:20423473   PMID:20543461   PMID:20705583   PMID:20859756   PMID:21464545   PMID:21873635   PMID:22647848  
PMID:23053953   PMID:23588848   PMID:24338274   PMID:25029911   PMID:25378401   PMID:25882097   PMID:26261522   PMID:26880583   PMID:28298427   PMID:28611215   PMID:29243779   PMID:33300077  
PMID:33961781   PMID:35748872  


Genomics

Comparative Map Data
TMEM8B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38935,829,228 - 35,865,515 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl935,814,451 - 35,865,518 (+)EnsemblGRCh38hg38GRCh38
GRCh37935,829,225 - 35,865,512 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36935,819,222 - 35,844,844 (+)NCBINCBI36Build 36hg18NCBI36
Celera935,762,754 - 35,788,379 (+)NCBICelera
Cytogenetic Map9p13.3NCBI
HuRef935,785,163 - 35,810,849 (+)NCBIHuRef
CHM1_1935,829,610 - 35,855,233 (+)NCBICHM1_1
T2T-CHM13v2.0935,849,899 - 35,886,190 (+)NCBIT2T-CHM13v2.0
Tmem8b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39443,668,971 - 43,692,668 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl443,668,971 - 43,692,668 (+)EnsemblGRCm39 Ensembl
GRCm38443,668,971 - 43,692,668 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl443,668,971 - 43,692,668 (+)EnsemblGRCm38mm10GRCm38
MGSCv37443,681,843 - 43,705,540 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36443,689,777 - 43,713,768 (+)NCBIMGSCv36mm8
Celera443,703,576 - 43,727,192 (+)NCBICelera
Cytogenetic Map4A5NCBI
cM Map423.05NCBI
Tmem8b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8562,715,238 - 62,744,187 (+)NCBIGRCr8
mRatBN7.2557,919,473 - 57,948,419 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl557,919,804 - 57,946,772 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0559,165,552 - 59,193,772 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl559,178,846 - 59,191,975 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0563,690,420 - 63,718,562 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4560,146,431 - 60,173,161 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1560,146,190 - 60,172,805 (+)NCBI
Celera556,500,289 - 56,528,420 (+)NCBICelera
Cytogenetic Map5q22NCBI
Tmem8b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955472467,492 - 488,892 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955472467,027 - 489,287 (-)NCBIChiLan1.0ChiLan1.0
TMEM8B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21188,734,373 - 88,763,052 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1988,738,359 - 88,768,990 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0935,679,698 - 35,704,945 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1936,478,735 - 36,507,303 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl936,482,289 - 36,507,300 (+)Ensemblpanpan1.1panPan2
TMEM8B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11152,344,566 - 52,387,049 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1152,355,933 - 52,386,466 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1150,926,906 - 50,954,624 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01153,424,360 - 53,452,046 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1153,421,024 - 53,452,046 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11151,968,852 - 51,996,564 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01151,953,287 - 51,980,975 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01152,654,534 - 52,682,270 (+)NCBIUU_Cfam_GSD_1.0
Tmem8b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947167,268,927 - 167,364,849 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365243,816,490 - 3,843,349 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365243,816,524 - 3,840,959 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM8B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1236,551,434 - 236,584,376 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11236,550,759 - 236,583,635 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21264,276,426 - 264,308,658 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM8B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366603841,855,990 - 41,880,735 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmem8b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248684,924,116 - 4,956,325 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248684,925,096 - 4,956,764 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMEM8B
33 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
NM_001042589.2(TMEM8B):c.-451+1768G>T single nucleotide variant Lung cancer [RCV000108320] Chr9:35836986 [GRCh38]
Chr9:35836983 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001012446.3(FAM221B):c.4G>A (p.Glu2Lys) single nucleotide variant Malignant melanoma [RCV000068658] Chr9:35826158 [GRCh38]
Chr9:35826155 [GRCh37]
Chr9:35816155 [NCBI36]
Chr9:9p13.3
not provided
GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3 copy number gain See cases [RCV000133829] Chr9:33225730..38529813 [GRCh38]
Chr9:33225728..38529810 [GRCh37]
Chr9:33215728..38519810 [NCBI36]
Chr9:9p13.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3 copy number gain See cases [RCV000134038] Chr9:35623500..38815474 [GRCh38]
Chr9:35623497..38815471 [GRCh37]
Chr9:35613497..38805471 [NCBI36]
Chr9:9p13.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1 copy number loss See cases [RCV000134762] Chr9:33572681..36782015 [GRCh38]
Chr9:33572679..36782012 [GRCh37]
Chr9:33562679..36772012 [NCBI36]
Chr9:9p13.3-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12
pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13
pathogenic
GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3 copy number gain See cases [RCV000137741] Chr9:7162304..37038771 [GRCh38]
Chr9:7162304..37038768 [GRCh37]
Chr9:7152304..37028768 [NCBI36]
Chr9:9p24.1-13.2
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic|conflicting data from submitters
GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015) copy number gain See cases [RCV000140448] Chr9:18344605..68257015 [GRCh38]
Chr9:18344603..68995221 [GRCh37]
Chr9:18334603..68285041 [NCBI36]
Chr9:9p22.2-q21.11
pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3 copy number gain See cases [RCV000141663] Chr9:31426827..68257015 [GRCh38]
Chr9:31426825..68330127 [GRCh37]
Chr9:31416825..67819947 [NCBI36]
Chr9:9p21.1-q21.11
pathogenic
GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3 copy number gain See cases [RCV000142317] Chr9:28975663..38787483 [GRCh38]
Chr9:28975661..38787480 [GRCh37]
Chr9:28965661..38777480 [NCBI36]
Chr9:9p21.1-13.1
likely pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3
pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1
pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain not specified [RCV003986800] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2
likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12
pathogenic
NC_000009.11:g.(?_34645556)_(36277059_?)dup duplication Anauxetic dysplasia [RCV000708053] Chr9:34645559..36277062 [GRCh38]
Chr9:34645556..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34458984)_(36277059_?)dup duplication Autosomal recessive distal spinal muscular atrophy 2 [RCV000708492] Chr9:34458984..36277059 [GRCh37]
Chr9:9p13.3
uncertain significance
Single allele complex Glioma [RCV000754871] Chr9:23524426..87359888 [GRCh37]
Chr9:9p21.3-q21.33
likely pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965) copy number gain Tetrasomy 9p [RCV002280656] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p13.3-q13(chr9:34542635-68210033)x3 copy number gain not provided [RCV000849826] Chr9:34542635..68210033 [GRCh37]
Chr9:9p13.3-q13
pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NM_001042590.4(TMEM8B):c.2576T>A (p.Phe859Tyr) single nucleotide variant not specified [RCV004299782] Chr9:35853641 [GRCh38]
Chr9:35853638 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)x1 copy number loss Neurodevelopmental disorder [RCV001580195] Chr9:35059633..37660586 [GRCh37]
Chr9:9p13.3-13.2
pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311) copy number loss Distal tetrasomy 15q [RCV002280776] Chr9:19356861..119513311 [GRCh37]
Chr9:9p22.1-q33.1
uncertain significance
GRCh37/hg19 9p21.1-13.2(chr9:32192406-38311776)x3 copy number gain not provided [RCV001259519] Chr9:32192406..38311776 [GRCh37]
Chr9:9p21.1-13.2
likely pathogenic
NC_000009.11:g.(?_35683146)_(36277049_?)dup duplication Arthrogryposis, distal, type 1A [RCV001345686] Chr9:35683146..36277049 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34459004)_(36276941_?)del deletion Hyperphosphatasia with intellectual disability syndrome 2 [RCV001382817] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3
pathogenic
NC_000009.11:g.12246100_101559378inv inversion Recurrent spontaneous abortion [RCV000999471] Chr9:12246100..101559378 [GRCh37]
Chr9:9p23-q22.33
likely pathogenic
NC_000009.11:g.(?_32453279)_(37785041_?)dup duplication Acromesomelic dysplasia 1, Maroteaux type [RCV003109230]|Arthrogryposis, distal, type 1A [RCV003119438]|Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase [RCV003119437]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 [RCV003109231]|Primary ciliary dyskinesia [RCV003119439]|not provided [RCV003154083] Chr9:32453279..37785041 [GRCh37]
Chr9:9p21.1-13.2
uncertain significance|no classifications from unflagged records
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32
pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3
pathogenic
NC_000009.11:g.(?_34459004)_(36276941_?)dup duplication Hyperphosphatasia with intellectual disability syndrome 2 [RCV001933515] Chr9:34459004..36276941 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_34370797)_(36276941_?)dup duplication Anauxetic dysplasia [RCV003114124] Chr9:34370797..36276941 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-q13(chr9:203861-68342786) copy number gain Bradycardia [RCV002280662] Chr9:203861..68342786 [GRCh37]
Chr9:9p24.3-q13
pathogenic
GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3 copy number gain See cases [RCV002292402] Chr9:203861..131603223 [GRCh37]
Chr9:9p24.3-q34.11
pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3 copy number gain Syndromic anorectal malformation [RCV002286608] Chr9:48827..39154913 [GRCh37]
Chr9:9p24.3-13.1
likely pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3 copy number gain MISSED ABORTION [RCV002282974] Chr9:203861..35903398 [GRCh37]
Chr9:9p24.3-13.3
pathogenic
NM_001042590.4(TMEM8B):c.2011G>A (p.Gly671Ser) single nucleotide variant not specified [RCV004110563] Chr9:35846831 [GRCh38]
Chr9:35846828 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.1657G>T (p.Val553Leu) single nucleotide variant not specified [RCV004182588] Chr9:35845996 [GRCh38]
Chr9:35845993 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.1442C>T (p.Thr481Met) single nucleotide variant not specified [RCV004200215] Chr9:35842524 [GRCh38]
Chr9:35842521 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.2314G>T (p.Val772Phe) single nucleotide variant not specified [RCV004196707] Chr9:35852965 [GRCh38]
Chr9:35852962 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.2561C>G (p.Thr854Ser) single nucleotide variant not specified [RCV004132523] Chr9:35853626 [GRCh38]
Chr9:35853623 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.1667T>C (p.Phe556Ser) single nucleotide variant not specified [RCV004175042] Chr9:35846006 [GRCh38]
Chr9:35846003 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.2731G>A (p.Val911Met) single nucleotide variant not specified [RCV004205898] Chr9:35853796 [GRCh38]
Chr9:35853793 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.2099C>T (p.Pro700Leu) single nucleotide variant not specified [RCV004228323] Chr9:35846919 [GRCh38]
Chr9:35846916 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.2456G>A (p.Arg819His) single nucleotide variant not specified [RCV004205601] Chr9:35853521 [GRCh38]
Chr9:35853518 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.2674C>T (p.Arg892Trp) single nucleotide variant not specified [RCV004190797] Chr9:35853739 [GRCh38]
Chr9:35853736 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.1412T>C (p.Leu471Pro) single nucleotide variant not specified [RCV004191037] Chr9:35842494 [GRCh38]
Chr9:35842491 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.2299C>T (p.Arg767Cys) single nucleotide variant not specified [RCV004103241] Chr9:35852950 [GRCh38]
Chr9:35852947 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.2258G>C (p.Gly753Ala) single nucleotide variant not specified [RCV004194107] Chr9:35852909 [GRCh38]
Chr9:35852906 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.1556G>A (p.Arg519His) single nucleotide variant not specified [RCV004219212] Chr9:35842638 [GRCh38]
Chr9:35842635 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.1564G>A (p.Val522Met) single nucleotide variant not specified [RCV004256152] Chr9:35842646 [GRCh38]
Chr9:35842643 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.2710G>A (p.Glu904Lys) single nucleotide variant not specified [RCV004265161] Chr9:35853775 [GRCh38]
Chr9:35853772 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.2451C>A (p.Ser817Arg) single nucleotide variant not specified [RCV004320309] Chr9:35853516 [GRCh38]
Chr9:35853513 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.1858G>T (p.Val620Leu) single nucleotide variant not specified [RCV004360771] Chr9:35846473 [GRCh38]
Chr9:35846470 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.1867C>T (p.Arg623Cys) single nucleotide variant not specified [RCV004362312] Chr9:35846482 [GRCh38]
Chr9:35846479 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.1960C>G (p.His654Asp) single nucleotide variant not specified [RCV004346907] Chr9:35846575 [GRCh38]
Chr9:35846572 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3 copy number gain not provided [RCV003484765] Chr9:1475882..38771831 [GRCh37]
Chr9:9p24.3-13.1
pathogenic
GRCh37/hg19 9p13.3-13.1(chr9:35440393-38787480)x1 copy number loss not specified [RCV003986844] Chr9:35440393..38787480 [GRCh37]
Chr9:9p13.3-13.1
likely pathogenic
NM_001042590.4(TMEM8B):c.1564G>C (p.Val522Leu) single nucleotide variant not specified [RCV004470551] Chr9:35842646 [GRCh38]
Chr9:35842643 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.1621C>T (p.Leu541Phe) single nucleotide variant not specified [RCV004470552] Chr9:35842703 [GRCh38]
Chr9:35842700 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.1424C>T (p.Ala475Val) single nucleotide variant not specified [RCV004470554] Chr9:35842506 [GRCh38]
Chr9:35842503 [GRCh37]
Chr9:9p13.3
likely benign
NM_001042590.4(TMEM8B):c.2564G>A (p.Arg855Gln) single nucleotide variant not specified [RCV004470548] Chr9:35853629 [GRCh38]
Chr9:35853626 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.2150A>G (p.Tyr717Cys) single nucleotide variant not specified [RCV004470555] Chr9:35846970 [GRCh38]
Chr9:35846967 [GRCh37]
Chr9:9p13.3
uncertain significance
GRCh37/hg19 9p13.3-13.1(chr9:35495055-39184042)x1 copy number loss not provided [RCV004577467] Chr9:35495055..39184042 [GRCh37]
Chr9:9p13.3-13.1
pathogenic
NM_001042590.4(TMEM8B):c.2681G>A (p.Arg894Gln) single nucleotide variant not specified [RCV004470550] Chr9:35853746 [GRCh38]
Chr9:35853743 [GRCh37]
Chr9:9p13.3
uncertain significance
NC_000009.11:g.(?_33436037)_(37436779_?)del deletion Spastic paraplegia [RCV004581844] Chr9:33436037..37436779 [GRCh37]
Chr9:9p13.3-13.2
pathogenic
NC_000009.11:g.(?_32453279)_(36276941_?)dup duplication not provided [RCV004582073] Chr9:32453279..36276941 [GRCh37]
Chr9:9p21.1-13.3
uncertain significance
NM_001042590.4(TMEM8B):c.1957A>G (p.Thr653Ala) single nucleotide variant not specified [RCV004679849] Chr9:35846572 [GRCh38]
Chr9:35846569 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.1947G>C (p.Lys649Asn) single nucleotide variant not specified [RCV004679852] Chr9:35846562 [GRCh38]
Chr9:35846559 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.2446C>T (p.Arg816Cys) single nucleotide variant not specified [RCV004679853] Chr9:35853511 [GRCh38]
Chr9:35853508 [GRCh37]
Chr9:9p13.3
uncertain significance
NM_001042590.4(TMEM8B):c.1877C>T (p.Thr626Met) single nucleotide variant not specified [RCV004679854] Chr9:35846492 [GRCh38]
Chr9:35846489 [GRCh37]
Chr9:9p13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3030
Count of miRNA genes:960
Interacting mature miRNAs:1180
Transcripts:ENST00000377988, ENST00000377991, ENST00000377996, ENST00000439587, ENST00000464519, ENST00000472010, ENST00000473947, ENST00000490199
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406946833GWAS595809_Hhemojuvelin measurement QTL GWAS595809 (human)1e-34hemojuvelin measurement93583803335838034Human
406946643GWAS595619_Hrepulsive guidance molecule A measurement QTL GWAS595619 (human)1e-79repulsive guidance molecule A measurement93583345135833452Human
406892356GWAS541332_Hrepulsive guidance molecule A measurement QTL GWAS541332 (human)2e-19repulsive guidance molecule A measurement93583345135833452Human
407190672GWAS839648_Hblood protein measurement QTL GWAS839648 (human)1e-504blood protein measurementblood protein measurement (CMO:0000028)93584178635841787Human
407216480GWAS865456_Hblood protein measurement QTL GWAS865456 (human)3e-27blood protein measurementblood protein measurement (CMO:0000028)93583494535834946Human
407200460GWAS849436_Hblood protein measurement QTL GWAS849436 (human)5e-19blood protein measurementblood protein measurement (CMO:0000028)93583728735837288Human
407198572GWAS847548_Hhemojuvelin measurement QTL GWAS847548 (human)5e-14hemojuvelin measurement93584178635841787Human
407294047GWAS943023_Hbody height QTL GWAS943023 (human)9e-39body height (VT:0001253)body height (CMO:0000106)93585643735856438Human
407313529GWAS962505_Hcortical surface area measurement QTL GWAS962505 (human)2e-09cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)93584178635841787Human

Markers in Region
RH103949  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,854,189 - 35,854,349UniSTSGRCh37
Build 36935,844,189 - 35,844,349RGDNCBI36
Celera935,787,724 - 35,787,884RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,810,194 - 35,810,354UniSTS
GeneMap99-GB4 RH Map9157.64UniSTS
RH11958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,846,951 - 35,847,097UniSTSGRCh37
Build 36935,836,951 - 35,837,097RGDNCBI36
Celera935,780,486 - 35,780,632RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,802,955 - 35,803,101UniSTS
GeneMap99-GB4 RH Map9155.72UniSTS
D9S1165  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,828,181 - 35,828,693UniSTSGRCh37
Build 36935,818,181 - 35,818,693RGDNCBI36
Celera935,761,713 - 35,762,225RGD
Cytogenetic Map9p13.3UniSTS
HuRef935,784,121 - 35,784,634UniSTS
MARC_12861-12862:1000493489:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37935,834,536 - 35,835,173UniSTSGRCh37
Build 36935,824,536 - 35,825,173RGDNCBI36
Celera935,768,071 - 35,768,708RGD
HuRef935,790,540 - 35,791,177UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1948 465 2270 7303 6469 53 3734 1 852 1744 1617 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001042589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001042590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363621 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_016446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017014807 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423471 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054363107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001746322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002956793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF052116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF070572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF188239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF370382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI392653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK055303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC043384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC082765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098296 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC099733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ783981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000377988   ⟹   ENSP00000367227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,829,498 - 35,854,846 (+)Ensembl
Ensembl Acc Id: ENST00000377991   ⟹   ENSP00000367230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,829,232 - 35,865,518 (+)Ensembl
Ensembl Acc Id: ENST00000377996   ⟹   ENSP00000367235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,814,451 - 35,847,234 (+)Ensembl
Ensembl Acc Id: ENST00000439587   ⟹   ENSP00000395810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,829,228 - 35,847,235 (+)Ensembl
Ensembl Acc Id: ENST00000464519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,829,272 - 35,842,467 (+)Ensembl
Ensembl Acc Id: ENST00000473947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,829,516 - 35,846,380 (+)Ensembl
Ensembl Acc Id: ENST00000490199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,829,777 - 35,846,271 (+)Ensembl
Ensembl Acc Id: ENST00000643932   ⟹   ENSP00000493496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,829,228 - 35,865,515 (+)Ensembl
Ensembl Acc Id: ENST00000650015   ⟹   ENSP00000497766
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl935,829,232 - 35,854,847 (+)Ensembl
RefSeq Acc Id: NM_001042589   ⟹   NP_001036054
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,865,515 (+)NCBI
GRCh37935,829,222 - 35,854,844 (+)ENTREZGENE
GRCh37935,829,222 - 35,854,844 (+)NCBI
Build 36935,819,229 - 35,844,844 (+)NCBI Archive
HuRef935,785,163 - 35,810,849 (+)ENTREZGENE
CHM1_1935,829,610 - 35,855,233 (+)NCBI
T2T-CHM13v2.0935,849,899 - 35,886,190 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001042590   ⟹   NP_001036055
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,865,515 (+)NCBI
GRCh37935,829,222 - 35,854,844 (+)ENTREZGENE
GRCh37935,829,222 - 35,854,844 (+)NCBI
Build 36935,819,513 - 35,844,844 (+)NCBI Archive
HuRef935,785,163 - 35,810,849 (+)ENTREZGENE
CHM1_1935,829,883 - 35,855,233 (+)NCBI
T2T-CHM13v2.0935,849,899 - 35,886,190 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363620   ⟹   NP_001350549
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,847,235 (+)NCBI
T2T-CHM13v2.0935,849,899 - 35,867,913 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363621   ⟹   NP_001350550
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,847,235 (+)NCBI
T2T-CHM13v2.0935,849,899 - 35,867,913 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363622   ⟹   NP_001350551
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,856,240 (+)NCBI
T2T-CHM13v2.0935,849,899 - 35,876,918 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363625   ⟹   NP_001350554
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,847,235 (+)NCBI
T2T-CHM13v2.0935,849,899 - 35,867,913 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016446   ⟹   NP_057530
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,847,235 (+)NCBI
GRCh37935,829,222 - 35,854,844 (+)ENTREZGENE
GRCh37935,829,222 - 35,854,844 (+)NCBI
Build 36935,819,222 - 35,837,232 (+)NCBI Archive
HuRef935,785,163 - 35,810,849 (+)ENTREZGENE
CHM1_1935,829,610 - 35,847,621 (+)NCBI
T2T-CHM13v2.0935,849,899 - 35,867,913 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005251483   ⟹   XP_005251540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,856,240 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517901   ⟹   XP_011516203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,856,240 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517902   ⟹   XP_011516204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,865,515 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517903   ⟹   XP_011516205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,856,240 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517905   ⟹   XP_011516207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,847,235 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517910   ⟹   XP_011516212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,856,240 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517912   ⟹   XP_011516214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,856,240 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517913   ⟹   XP_011516215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,833,877 - 35,856,240 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517914   ⟹   XP_011516216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,834,570 - 35,856,240 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017014805   ⟹   XP_016870294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,835,226 - 35,856,240 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447570   ⟹   XP_024303338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,856,240 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423466   ⟹   XP_047279422
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,852,973 (+)NCBI
RefSeq Acc Id: XM_047423467   ⟹   XP_047279423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,856,240 (+)NCBI
RefSeq Acc Id: XM_047423468   ⟹   XP_047279424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,856,240 (+)NCBI
RefSeq Acc Id: XM_047423469   ⟹   XP_047279425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,843,531 (+)NCBI
RefSeq Acc Id: XM_047423470   ⟹   XP_047279426
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,845,796 (+)NCBI
RefSeq Acc Id: XM_047423471   ⟹   XP_047279427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,835,121 - 35,847,235 (+)NCBI
RefSeq Acc Id: XM_047423472   ⟹   XP_047279428
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,228 - 35,865,515 (+)NCBI
RefSeq Acc Id: XM_054363087   ⟹   XP_054219062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,876,915 (+)NCBI
RefSeq Acc Id: XM_054363088   ⟹   XP_054219063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,886,190 (+)NCBI
RefSeq Acc Id: XM_054363089   ⟹   XP_054219064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,876,915 (+)NCBI
RefSeq Acc Id: XM_054363090   ⟹   XP_054219065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,876,918 (+)NCBI
RefSeq Acc Id: XM_054363091   ⟹   XP_054219066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,876,918 (+)NCBI
RefSeq Acc Id: XM_054363092   ⟹   XP_054219067
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,867,913 (+)NCBI
RefSeq Acc Id: XM_054363093   ⟹   XP_054219068
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,873,651 (+)NCBI
RefSeq Acc Id: XM_054363094   ⟹   XP_054219069
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,876,915 (+)NCBI
RefSeq Acc Id: XM_054363095   ⟹   XP_054219070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,855,904 - 35,876,915 (+)NCBI
RefSeq Acc Id: XM_054363096   ⟹   XP_054219071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,876,915 (+)NCBI
RefSeq Acc Id: XM_054363097   ⟹   XP_054219072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,876,915 (+)NCBI
RefSeq Acc Id: XM_054363098   ⟹   XP_054219073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,876,918 (+)NCBI
RefSeq Acc Id: XM_054363099   ⟹   XP_054219074
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,864,209 (+)NCBI
RefSeq Acc Id: XM_054363100   ⟹   XP_054219075
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,866,474 (+)NCBI
RefSeq Acc Id: XM_054363101   ⟹   XP_054219076
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,876,915 (+)NCBI
RefSeq Acc Id: XM_054363102   ⟹   XP_054219077
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,876,915 (+)NCBI
RefSeq Acc Id: XM_054363103   ⟹   XP_054219078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,854,551 - 35,876,915 (+)NCBI
RefSeq Acc Id: XM_054363104   ⟹   XP_054219079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,855,799 - 35,867,913 (+)NCBI
RefSeq Acc Id: XM_054363105   ⟹   XP_054219080
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,886,190 (+)NCBI
RefSeq Acc Id: XM_054363106   ⟹   XP_054219081
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,855,248 - 35,876,915 (+)NCBI
RefSeq Acc Id: XM_054363107   ⟹   XP_054219082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0935,849,899 - 35,886,190 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001036054 (Get FASTA)   NCBI Sequence Viewer  
  NP_001036055 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350549 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350550 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350551 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350554 (Get FASTA)   NCBI Sequence Viewer  
  NP_057530 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251540 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516203 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516204 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516205 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516207 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516212 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516214 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516215 (Get FASTA)   NCBI Sequence Viewer  
  XP_011516216 (Get FASTA)   NCBI Sequence Viewer  
  XP_016870294 (Get FASTA)   NCBI Sequence Viewer  
  XP_024303338 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279422 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279423 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279424 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279425 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279426 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279427 (Get FASTA)   NCBI Sequence Viewer  
  XP_047279428 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219062 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219063 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219064 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219065 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219066 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219067 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219068 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219069 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219070 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219071 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219072 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219073 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219074 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219075 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219076 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219077 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219078 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219079 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219080 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219081 (Get FASTA)   NCBI Sequence Viewer  
  XP_054219082 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A6NDV4 (Get FASTA)   NCBI Sequence Viewer  
  AAC28644 (Get FASTA)   NCBI Sequence Viewer  
  AAG29055 (Get FASTA)   NCBI Sequence Viewer  
  AAH98265 (Get FASTA)   NCBI Sequence Viewer  
  AAH98296 (Get FASTA)   NCBI Sequence Viewer  
  AAH99733 (Get FASTA)   NCBI Sequence Viewer  
  AAQ15218 (Get FASTA)   NCBI Sequence Viewer  
  BAG52015 (Get FASTA)   NCBI Sequence Viewer  
  CAF86955 (Get FASTA)   NCBI Sequence Viewer  
  EAW58325 (Get FASTA)   NCBI Sequence Viewer  
  EAW58326 (Get FASTA)   NCBI Sequence Viewer  
  EAW58327 (Get FASTA)   NCBI Sequence Viewer  
  EAW58328 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000367227.2
  ENSP00000367230
  ENSP00000367230.4
  ENSP00000367235
  ENSP00000367235.1
  ENSP00000395810
  ENSP00000395810.2
  ENSP00000493496
  ENSP00000493496.1
  ENSP00000497766.1
RefSeq Acc Id: NP_057530   ⟸   NM_016446
- Peptide Label: isoform b
- UniProtKB: A6NDV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001036054   ⟸   NM_001042589
- Peptide Label: isoform a
- UniProtKB: Q9HBY2 (UniProtKB/Swiss-Prot),   Q5TCW5 (UniProtKB/Swiss-Prot),   Q4KMX5 (UniProtKB/Swiss-Prot),   Q49AB1 (UniProtKB/Swiss-Prot),   O75539 (UniProtKB/Swiss-Prot),   B3KQF3 (UniProtKB/Swiss-Prot),   Q9P0U7 (UniProtKB/Swiss-Prot),   A6NDV4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001036055   ⟸   NM_001042590
- Peptide Label: isoform c
- UniProtKB: A0A2R8Y2M5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005251540   ⟸   XM_005251483
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011516212   ⟸   XM_011517910
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011516204   ⟸   XM_011517902
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011516203   ⟸   XM_011517901
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011516205   ⟸   XM_011517903
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011516207   ⟸   XM_011517905
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011516214   ⟸   XM_011517912
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011516215   ⟸   XM_011517913
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_011516216   ⟸   XM_011517914
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016870294   ⟸   XM_017014805
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_024303338   ⟸   XM_024447570
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001350551   ⟸   NM_001363622
- Peptide Label: isoform e
RefSeq Acc Id: NP_001350549   ⟸   NM_001363620
- Peptide Label: isoform d
RefSeq Acc Id: NP_001350554   ⟸   NM_001363625
- Peptide Label: isoform f
RefSeq Acc Id: NP_001350550   ⟸   NM_001363621
- Peptide Label: isoform b
Ensembl Acc Id: ENSP00000395810   ⟸   ENST00000439587
Ensembl Acc Id: ENSP00000497766   ⟸   ENST00000650015
Ensembl Acc Id: ENSP00000367230   ⟸   ENST00000377991
Ensembl Acc Id: ENSP00000367235   ⟸   ENST00000377996
Ensembl Acc Id: ENSP00000367227   ⟸   ENST00000377988
Ensembl Acc Id: ENSP00000493496   ⟸   ENST00000643932
RefSeq Acc Id: XP_047279428   ⟸   XM_047423472
- Peptide Label: isoform X15
- UniProtKB: Q9HBY2 (UniProtKB/Swiss-Prot),   Q5TCW5 (UniProtKB/Swiss-Prot),   Q4KMX5 (UniProtKB/Swiss-Prot),   Q49AB1 (UniProtKB/Swiss-Prot),   O75539 (UniProtKB/Swiss-Prot),   B3KQF3 (UniProtKB/Swiss-Prot),   A6NDV4 (UniProtKB/Swiss-Prot),   Q9P0U7 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047279423   ⟸   XM_047423467
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047279424   ⟸   XM_047423468
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047279422   ⟸   XM_047423466
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047279426   ⟸   XM_047423470
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047279425   ⟸   XM_047423469
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047279427   ⟸   XM_047423471
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054219063   ⟸   XM_054363088
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054219080   ⟸   XM_054363105
- Peptide Label: isoform X15
- UniProtKB: Q9P0U7 (UniProtKB/Swiss-Prot),   Q9HBY2 (UniProtKB/Swiss-Prot),   Q5TCW5 (UniProtKB/Swiss-Prot),   Q4KMX5 (UniProtKB/Swiss-Prot),   Q49AB1 (UniProtKB/Swiss-Prot),   O75539 (UniProtKB/Swiss-Prot),   B3KQF3 (UniProtKB/Swiss-Prot),   A6NDV4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054219082   ⟸   XM_054363107
- Peptide Label: isoform X15
- UniProtKB: Q9P0U7 (UniProtKB/Swiss-Prot),   Q9HBY2 (UniProtKB/Swiss-Prot),   Q5TCW5 (UniProtKB/Swiss-Prot),   Q4KMX5 (UniProtKB/Swiss-Prot),   Q49AB1 (UniProtKB/Swiss-Prot),   O75539 (UniProtKB/Swiss-Prot),   B3KQF3 (UniProtKB/Swiss-Prot),   A6NDV4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054219065   ⟸   XM_054363090
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054219066   ⟸   XM_054363091
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054219073   ⟸   XM_054363098
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054219062   ⟸   XM_054363087
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054219064   ⟸   XM_054363089
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054219069   ⟸   XM_054363094
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054219072   ⟸   XM_054363097
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054219071   ⟸   XM_054363096
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054219076   ⟸   XM_054363101
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054219077   ⟸   XM_054363102
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054219068   ⟸   XM_054363093
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054219067   ⟸   XM_054363092
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054219075   ⟸   XM_054363100
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054219074   ⟸   XM_054363099
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054219078   ⟸   XM_054363103
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054219081   ⟸   XM_054363106
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054219079   ⟸   XM_054363104
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054219070   ⟸   XM_054363095
- Peptide Label: isoform X9
Protein Domains
EGF-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A6NDV4-F1-model_v2 AlphaFold A6NDV4 1-472 view protein structure

Promoters
RGD ID:6807317
Promoter ID:HG_KWN:63121
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000358856,   ENST00000360192,   ENST00000388950,   NM_001012446,   NM_001042589,   NM_001042590,   NM_016446,   OTTHUMT00000052368,   OTTHUMT00000052369,   OTTHUMT00000052370,   OTTHUMT00000052371,   OTTHUMT00000052373,   UC003ZYL.1,   UC003ZYN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,818,641 - 35,819,752 (+)MPROMDB
RGD ID:7215053
Promoter ID:EPDNEW_H13272
Type:initiation region
Name:TMEM8B_1
Description:transmembrane protein 8B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13273  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,263 - 35,829,323EPDNEW
RGD ID:7215055
Promoter ID:EPDNEW_H13273
Type:initiation region
Name:TMEM8B_2
Description:transmembrane protein 8B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H13272  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38935,829,510 - 35,829,570EPDNEW
RGD ID:6813754
Promoter ID:HG_ACW:80244
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:C9ORF127.JAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36935,835,776 - 35,836,276 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21427 AgrOrtholog
COSMIC TMEM8B COSMIC
Ensembl Genes ENSG00000137103 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000377988.6 UniProtKB/Swiss-Prot
  ENST00000377991 ENTREZGENE
  ENST00000377991.9 UniProtKB/Swiss-Prot
  ENST00000377996 ENTREZGENE
  ENST00000377996.5 UniProtKB/Swiss-Prot
  ENST00000439587 ENTREZGENE
  ENST00000439587.6 UniProtKB/Swiss-Prot
  ENST00000643932 ENTREZGENE
  ENST00000643932.2 UniProtKB/TrEMBL
  ENST00000650015.1 UniProtKB/Swiss-Prot
GTEx ENSG00000137103 GTEx
HGNC ID HGNC:21427 ENTREZGENE
Human Proteome Map TMEM8B Human Proteome Map
InterPro EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NGX6/PGAP6/MYMK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:51754 UniProtKB/Swiss-Prot
NCBI Gene 51754 ENTREZGENE
OMIM 616888 OMIM
PANTHER PTHR14319 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SI:DKEY-84J12.1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF3522 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA165586305 PharmGKB
PROSITE EGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A2R8Y2M5 ENTREZGENE, UniProtKB/TrEMBL
  A6NDV4 ENTREZGENE
  B3KQF3 ENTREZGENE
  O75539 ENTREZGENE
  Q49AB1 ENTREZGENE
  Q4KMX5 ENTREZGENE
  Q5TCW5 ENTREZGENE
  Q9HBY2 ENTREZGENE
  Q9P0U7 ENTREZGENE
  TMM8B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KQF3 UniProtKB/Swiss-Prot
  O75539 UniProtKB/Swiss-Prot
  Q49AB1 UniProtKB/Swiss-Prot
  Q4KMX5 UniProtKB/Swiss-Prot
  Q5TCW5 UniProtKB/Swiss-Prot
  Q9HBY2 UniProtKB/Swiss-Prot
  Q9P0U7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-05-23 TMEM8B  transmembrane protein 8B  LINC00950  long intergenic non-protein coding RNA 950  Data merged from RGD:7245769 737654 PROVISIONAL