TMEM249 (transmembrane protein 249) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: TMEM249 (transmembrane protein 249) Homo sapiens
Analyze
Symbol: TMEM249
Name: transmembrane protein 249
RGD ID: 6767351
HGNC Page HGNC
Description: Predicted to localize to integral component of membrane; INTERACTS WITH benzo[a]pyrene; rotenone; silicon dioxide.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C8ORFK29; putative transmembrane protein C8orfK29
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,352,219 - 144,354,914 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,353,228 - 144,354,931 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,576,888 - 145,578,591 (-)NCBIGRCh37GRCh37hg19GRCh37
Celera8141,752,267 - 141,753,886 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,690,971 - 140,693,207 (-)NCBIHuRef
CHM1_18145,615,307 - 145,617,690 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

References

References - curated
1. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932  


Genomics

Comparative Map Data
TMEM249
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8144,352,219 - 144,354,914 (-)EnsemblGRCh38hg38GRCh38
GRCh388144,353,228 - 144,354,931 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378145,576,888 - 145,578,591 (-)NCBIGRCh37GRCh37hg19GRCh37
Celera8141,752,267 - 141,753,886 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,690,971 - 140,693,207 (-)NCBIHuRef
CHM1_18145,615,307 - 145,617,690 (-)NCBICHM1_1
Tmem249
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,417,411 - 76,419,197 (-)NCBIGRCm39mm39
GRCm39 Ensembl1576,417,413 - 76,419,566 (-)Ensembl
GRCm381576,533,211 - 76,534,997 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,533,213 - 76,535,366 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,363,643 - 76,365,361 (-)NCBIGRCm37mm9NCBIm37
MGSCv361576,360,466 - 76,362,188 (-)NCBImm8
Celera1578,033,655 - 78,035,376 (-)NCBICelera
Cytogenetic Map15D3NCBI
Tmem249
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27108,256,535 - 108,259,429 (-)NCBI
Rnor_6.07117,599,001 - 117,601,894 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,586,632 - 117,589,525 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera7104,607,913 - 104,610,775 (-)NCBICelera
Cytogenetic Map7q34NCBI
Tmem249
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554542,974,713 - 2,976,454 (-)NCBIChiLan1.0ChiLan1.0
TMEM249
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18144,106,167 - 144,108,545 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8144,106,167 - 144,108,616 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08141,115,959 - 141,119,290 (-)NCBIMhudiblu_PPA_v0panPan3
TMEM249
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,778,698 - 37,780,774 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,778,730 - 37,780,385 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,741,325 - 37,743,401 (-)NCBI
ROS_Cfam_1.01338,254,259 - 38,256,335 (-)NCBI
UMICH_Zoey_3.11337,946,095 - 37,948,164 (-)NCBI
UNSW_CanFamBas_1.01338,054,747 - 38,056,817 (-)NCBI
UU_Cfam_GSD_1.01338,531,103 - 38,533,167 (-)NCBI
Tmem249
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303466,297 - 467,824 (+)NCBI
SpeTri2.0NW_0049364707,892,463 - 7,893,914 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM249
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4428,571 - 430,374 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14428,339 - 430,393 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24516,634 - 518,690 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM249
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,565,041 - 138,567,099 (-)NCBI
ChlSab1.1 Ensembl8138,565,177 - 138,566,548 (-)Ensembl
Tmem249
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473512,494,338 - 12,496,246 (+)NCBI

Position Markers
RH15614  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378145,579,132 - 145,579,317UniSTSGRCh37
Build 368145,549,940 - 145,550,125RGDNCBI36
Celera8141,754,513 - 141,754,698RGD
Cytogenetic Map8q24.3UniSTS
HuRef8140,693,070 - 140,693,255UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1778
Count of miRNA genes:813
Interacting mature miRNAs:957
Transcripts:ENST00000398633, ENST00000526263, ENST00000526503, ENST00000531225
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 409 351 1
Low 2047 1297 1151 296 688 213 2812 1232 3092 86 761 1069 88 885 1736 1
Below cutoff 295 1575 318 132 822 57 1454 913 163 87 138 365 81 316 1008 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001252402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001252404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001280561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_047684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA781425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB196634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC233992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF205589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI478864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC127764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC141966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC150570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX089061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648457 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY019398 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000561638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,352,219 - 144,354,070 (-)Ensembl
RefSeq Acc Id: ENST00000562477   ⟹   ENSP00000457580
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,353,314 - 144,354,845 (-)Ensembl
RefSeq Acc Id: ENST00000565365   ⟹   ENSP00000454468
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8144,353,228 - 144,354,914 (-)Ensembl
RefSeq Acc Id: NM_001252402   ⟹   NP_001239331
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,353,228 - 144,354,931 (-)NCBI
GRCh378145,576,886 - 145,579,269 (-)NCBI
HuRef8140,690,971 - 140,693,207 (-)NCBI
CHM1_18145,615,307 - 145,617,012 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001252404   ⟹   NP_001239333
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,353,228 - 144,354,931 (-)NCBI
HuRef8140,690,971 - 140,693,207 (-)NCBI
CHM1_18145,615,307 - 145,617,012 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001280561   ⟹   NP_001267490
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,353,228 - 144,354,931 (-)NCBI
HuRef8140,690,971 - 140,693,207 (-)NCBI
CHM1_18145,615,307 - 145,617,690 (-)NCBI
Sequence:
RefSeq Acc Id: NR_047684
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,353,228 - 144,354,931 (-)NCBI
GRCh378145,576,886 - 145,579,269 (-)NCBI
HuRef8140,690,971 - 140,693,207 (-)NCBI
CHM1_18145,615,307 - 145,617,012 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001239331 (Get FASTA)   NCBI Sequence Viewer  
  NP_001239333 (Get FASTA)   NCBI Sequence Viewer  
  NP_001267490 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein BAE53436 (Get FASTA)   NCBI Sequence Viewer  
  Q2WGJ8 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001239333   ⟸   NM_001252404
- Peptide Label: isoform 2
- Sequence:
RefSeq Acc Id: NP_001239331   ⟸   NM_001252402
- Peptide Label: isoform 1
- UniProtKB: Q2WGJ8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001267490   ⟸   NM_001280561
- Peptide Label: isoform 1
- UniProtKB: Q2WGJ8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000457580   ⟸   ENST00000562477
RefSeq Acc Id: ENSP00000454468   ⟸   ENST00000565365

Promoters
RGD ID:7214453
Promoter ID:EPDNEW_H12973
Type:multiple initiation site
Name:TMEM249_2
Description:transmembrane protein 249
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12974  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,354,182 - 144,354,242EPDNEW
RGD ID:7214455
Promoter ID:EPDNEW_H12974
Type:initiation region
Name:TMEM249_1
Description:transmembrane protein 249
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12973  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388144,354,931 - 144,354,991EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002671-144796947)x3 copy number gain See cases [RCV000050640] Chr8:144002671..144796947 [GRCh38]
Chr8:145076839..146022332 [GRCh37]
Chr8:145148827..145993136 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144287919-144723120)x3 copy number gain See cases [RCV000052187] Chr8:144287919..144723120 [GRCh38]
Chr8:145511620..145948505 [GRCh37]
Chr8:145482428..145919314 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:144002671-145054634)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053702]|See cases [RCV000053702] Chr8:144002671..145054634 [GRCh38]
Chr8:145076839..146280020 [GRCh37]
Chr8:145148827..146250824 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144002471-145054775)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054311]|See cases [RCV000054311] Chr8:144002471..145054775 [GRCh38]
Chr8:145076639..146280161 [GRCh37]
Chr8:145148627..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144264907-144668170)x1 copy number loss See cases [RCV000134352] Chr8:144264907..144668170 [GRCh38]
Chr8:145319810..145893555 [GRCh37]
Chr8:145391798..145864363 [NCBI36]
Chr8:8q24.3
benign
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:144340449-144585787)x3 copy number gain See cases [RCV000140255] Chr8:144340449..144585787 [GRCh38]
Chr8:145564111..145811171 [GRCh37]
Chr8:145534919..145781979 [NCBI36]
Chr8:8q24.3
likely benign
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145033244-146297937)x3 copy number gain not provided [RCV001270667] Chr8:145033244..146297937 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:134825277-146280828)x3 copy number gain See cases [RCV000448348] Chr8:134825277..146280828 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144779442-146113113)x3 copy number gain See cases [RCV000510396] Chr8:144779442..146113113 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136378789-146295771)x3 copy number gain See cases [RCV000512003] Chr8:136378789..146295771 [GRCh37]
Chr8:8q24.22-24.3
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:143815037-146295771)x3 copy number gain not provided [RCV000683020] Chr8:143815037..146295771 [GRCh37]
Chr8:8q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758661)x3 copy number gain not provided [RCV000748011] Chr8:145513753..145758661 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:145513753-145753161)x3 copy number gain not provided [RCV000748009] Chr8:145513753..145753161 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145513753-145758635)x3 copy number gain not provided [RCV000748010] Chr8:145513753..145758635 [GRCh37]
Chr8:8q24.3
benign
NC_000008.10:g.(?_144990325)_(145700664_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV000808636] Chr8:144990325..145700664 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.23-24.3(chr8:139188797-146295771)x3 copy number gain not provided [RCV000846814] Chr8:139188797..146295771 [GRCh37]
Chr8:8q24.23-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:136059859-146295771)x3 copy number gain not provided [RCV000847171] Chr8:136059859..146295771 [GRCh37]
Chr8:8q24.22-24.3
pathogenic
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV000823255] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_001252402.3(TMEM249):c.98C>T (p.Ala33Val) single nucleotide variant Epidermolysis bullosa simplex with nail dystrophy [RCV001089663] Chr8:144354670 [GRCh38]
Chr8:145578330 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3
pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3
pathogenic
GRCh37/hg19 8q24.3(chr8:145287199-145705521)x3 copy number gain not provided [RCV001006156] Chr8:145287199..145705521 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 copy number gain not provided [RCV001259512] Chr8:145555125..145779806 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_144990335)_(145701149_?)dup duplication Epidermolysis bullosa simplex with muscular dystrophy [RCV001327821] Chr8:144990335..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance
NC_000008.10:g.(?_145047561)_(145701149_?)dup duplication Brown-Vialetto-Van Laere syndrome 2 [RCV001301200] Chr8:145047561..145701149 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:44155 AgrOrtholog
COSMIC TMEM249 COSMIC
Ensembl Genes ENSG00000261587 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000285272 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000454468 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000457580 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000494307 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000562477 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000565365 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000645530 UniProtKB/Swiss-Prot
GTEx ENSG00000261587 GTEx
  ENSG00000285272 GTEx
HGNC ID HGNC:44155 ENTREZGENE
Human Proteome Map TMEM249 Human Proteome Map
InterPro DUF4579 UniProtKB/Swiss-Prot
KEGG Report hsa:340393 UniProtKB/Swiss-Prot
NCBI Gene TMEM249 ENTREZGENE
PANTHER PTHR35442 UniProtKB/Swiss-Prot
Pfam DUF4579 UniProtKB/Swiss-Prot
PharmGKB PA166049108 PharmGKB
UniProt A0A075B740_HUMAN UniProtKB/TrEMBL
  Q2WGJ8 ENTREZGENE, UniProtKB/Swiss-Prot