TMEM144 (transmembrane protein 144) - Rat Genome Database

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Gene: TMEM144 (transmembrane protein 144) Homo sapiens
Analyze
Symbol: TMEM144
Name: transmembrane protein 144
RGD ID: 1605072
HGNC Page HGNC:25633
Description: Predicted to enable carbohydrate transmembrane transporter activity. Predicted to be involved in carbohydrate transmembrane transport. Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: FLJ11155; SLC35G7
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
GRCh384158,210,486 - 158,255,416 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4158,201,604 - 158,255,416 (+)EnsemblGRCh38hg38GRCh38
GRCh374159,131,638 - 159,176,568 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364159,351,126 - 159,395,889 (+)NCBINCBI36Build 36hg18NCBI36
Celera4156,473,824 - 156,518,860 (+)NCBICelera
Cytogenetic Map4q32.1NCBI
HuRef4154,882,738 - 154,927,792 (+)NCBIHuRef
CHM1_14159,108,570 - 159,153,563 (+)NCBICHM1_1
T2T-CHM13v2.04161,562,668 - 161,607,571 (+)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

Biological Process

Cellular Component
membrane  (IEA)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:17207965   PMID:21527035   PMID:28298427   PMID:28611215   PMID:32296183   PMID:32393512  


Genomics

Comparative Map Data
TMEM144
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384158,210,486 - 158,255,416 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4158,201,604 - 158,255,416 (+)EnsemblGRCh38hg38GRCh38
GRCh374159,131,638 - 159,176,568 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364159,351,126 - 159,395,889 (+)NCBINCBI36Build 36hg18NCBI36
Celera4156,473,824 - 156,518,860 (+)NCBICelera
Cytogenetic Map4q32.1NCBI
HuRef4154,882,738 - 154,927,792 (+)NCBIHuRef
CHM1_14159,108,570 - 159,153,563 (+)NCBICHM1_1
T2T-CHM13v2.04161,562,668 - 161,607,571 (+)NCBIT2T-CHM13v2.0
Tmem144
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39379,719,871 - 79,760,093 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl379,719,871 - 79,760,080 (-)EnsemblGRCm39 Ensembl
GRCm38379,812,564 - 79,852,787 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl379,812,564 - 79,852,773 (-)EnsemblGRCm38mm10GRCm38
MGSCv37379,617,075 - 79,646,584 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36379,899,080 - 79,928,589 (-)NCBIMGSCv36mm8
Celera379,840,642 - 79,870,226 (-)NCBICelera
Cytogenetic Map3E3NCBI
cM Map335.07NCBI
Tmem144
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82167,258,788 - 167,291,701 (-)NCBIGRCr8
mRatBN7.22164,960,649 - 164,993,562 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2164,961,247 - 164,992,368 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2172,185,647 - 172,216,767 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02170,201,665 - 170,232,790 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02164,810,566 - 164,841,691 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02178,585,586 - 178,617,094 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2178,585,592 - 178,616,719 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02197,996,571 - 198,028,016 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42171,236,124 - 171,267,612 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2159,055,068 - 159,086,191 (-)NCBICelera
Cytogenetic Map2q33NCBI
Tmem144
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554719,203,094 - 9,247,132 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554719,170,798 - 9,246,847 (-)NCBIChiLan1.0ChiLan1.0
TMEM144
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23156,074,174 - 156,119,285 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14156,429,423 - 156,474,536 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04150,527,202 - 150,572,104 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14162,340,058 - 162,385,068 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4162,340,168 - 162,385,068 (+)Ensemblpanpan1.1panPan2
TMEM144
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11555,415,213 - 55,487,955 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1555,431,295 - 55,478,764 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1555,776,899 - 55,854,038 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01556,158,540 - 56,236,059 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1556,129,206 - 56,226,212 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11555,397,507 - 55,474,361 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01555,496,972 - 55,573,698 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01555,809,393 - 55,886,606 (+)NCBIUU_Cfam_GSD_1.0
Tmem144
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530134,775,232 - 34,809,235 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365764,737,684 - 4,771,696 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365764,737,743 - 4,771,622 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM144
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl847,133,703 - 47,210,334 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1847,133,684 - 47,202,409 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2849,353,967 - 49,429,814 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM144
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17104,777,220 - 104,856,060 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl7104,786,764 - 104,837,882 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603784,478,881 - 84,541,962 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmem144
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248157,050,652 - 7,051,697 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMEM144
16 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1		 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q32.1(chr4:156252927-160451424)x3 copy number gain See cases [RCV000051790] Chr4:156252927..160451424 [GRCh38]
Chr4:157174079..161372576 [GRCh37]
Chr4:157393529..161592026 [NCBI36]
Chr4:4q32.1		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2		 pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 copy number loss See cases [RCV000135696] Chr4:151299810..160314050 [GRCh38]
Chr4:152220962..161235202 [GRCh37]
Chr4:152440412..161454652 [NCBI36]
Chr4:4q31.3-32.1		 likely pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q32.1(chr4:157629491-158280863)x1 copy number loss See cases [RCV000141373] Chr4:157629491..158280863 [GRCh38]
Chr4:158550643..159202015 [GRCh37]
Chr4:158770093..159421465 [NCBI36]
Chr4:4q32.1		 uncertain significance
GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1 copy number loss See cases [RCV000141861] Chr4:155162982..170959553 [GRCh38]
Chr4:156084134..171880704 [GRCh37]
Chr4:156303584..172117279 [NCBI36]
Chr4:4q32.1-33		 pathogenic
GRCh38/hg38 4q32.1-32.2(chr4:156499748-163386407)x3 copy number gain See cases [RCV000143621] Chr4:156499748..163386407 [GRCh38]
Chr4:157420900..164307559 [GRCh37]
Chr4:157640350..164527009 [NCBI36]
Chr4:4q32.1-32.2		 likely pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1		 pathogenic
GRCh37/hg19 4q32.1(chr4:159047068-159600690)x3 copy number gain See cases [RCV000239828] Chr4:159047068..159600690 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1 copy number loss See cases [RCV000511404] Chr4:153203431..162912359 [GRCh37]
Chr4:4q31.3-32.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
NM_018342.5(TMEM144):c.673A>G (p.Ser225Gly) single nucleotide variant Inborn genetic diseases [RCV003288209] Chr4:158237634 [GRCh38]
Chr4:159158786 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3 copy number gain See cases [RCV000512542] Chr4:156465633..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3 copy number gain not provided [RCV000682475] Chr4:157552397..183831253 [GRCh37]
Chr4:4q32.1-35.1		 pathogenic
GRCh37/hg19 4q32.1(chr4:158857134-159344475)x3 copy number gain not provided [RCV000682476] Chr4:158857134..159344475 [GRCh37]
Chr4:4q32.1		 likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.1(chr4:158883131-159133858)x3 copy number gain not provided [RCV000744078] Chr4:158883131..159133858 [GRCh37]
Chr4:4q32.1		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q32.1-32.2(chr4:158177478-163328854)x1 copy number loss not provided [RCV000845798] Chr4:158177478..163328854 [GRCh37]
Chr4:4q32.1-32.2		 uncertain significance
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3		 pathogenic
GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278) copy number loss Autism with high cognitive abilities [RCV001352663] Chr4:157771352..172496278 [GRCh37]
Chr4:4q32.1-34.1		 pathogenic
GRCh37/hg19 4q32.1(chr4:159101199-159197057)x1 copy number loss not provided [RCV001836515] Chr4:159101199..159197057 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1 copy number loss See cases [RCV002292401] Chr4:159174483..190957473 [GRCh37]
Chr4:4q32.1-35.2		 pathogenic
GRCh37/hg19 4q32.1(chr4:158682606-159762612)x3 copy number gain not provided [RCV002473486] Chr4:158682606..159762612 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_018342.5(TMEM144):c.701C>T (p.Ala234Val) single nucleotide variant Inborn genetic diseases [RCV002891479] Chr4:158240317 [GRCh38]
Chr4:159161469 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_018342.5(TMEM144):c.380T>C (p.Leu127Pro) single nucleotide variant Inborn genetic diseases [RCV002874253] Chr4:158219357 [GRCh38]
Chr4:159140509 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_018342.5(TMEM144):c.614T>G (p.Val205Gly) single nucleotide variant Inborn genetic diseases [RCV002984909] Chr4:158237575 [GRCh38]
Chr4:159158727 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_018342.5(TMEM144):c.473C>T (p.Thr158Ile) single nucleotide variant Inborn genetic diseases [RCV002919975] Chr4:158232960 [GRCh38]
Chr4:159154112 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_018342.5(TMEM144):c.346G>A (p.Gly116Arg) single nucleotide variant Inborn genetic diseases [RCV002812932] Chr4:158219323 [GRCh38]
Chr4:159140475 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_018342.5(TMEM144):c.985G>A (p.Ala329Thr) single nucleotide variant Inborn genetic diseases [RCV002897102] Chr4:158253474 [GRCh38]
Chr4:159174626 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_018342.5(TMEM144):c.502A>G (p.Asn168Asp) single nucleotide variant Inborn genetic diseases [RCV002723921] Chr4:158235444 [GRCh38]
Chr4:159156596 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_018342.5(TMEM144):c.244G>A (p.Val82Ile) single nucleotide variant Inborn genetic diseases [RCV003220993] Chr4:158217332 [GRCh38]
Chr4:159138484 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_018342.5(TMEM144):c.757G>A (p.Ala253Thr) single nucleotide variant Inborn genetic diseases [RCV003203174] Chr4:158240373 [GRCh38]
Chr4:159161525 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_018342.5(TMEM144):c.75T>G (p.Asn25Lys) single nucleotide variant Inborn genetic diseases [RCV003381366] Chr4:158212742 [GRCh38]
Chr4:159133894 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_018342.5(TMEM144):c.745G>A (p.Ala249Thr) single nucleotide variant Inborn genetic diseases [RCV003368772] Chr4:158240361 [GRCh38]
Chr4:159161513 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_018342.5(TMEM144):c.460T>G (p.Cys154Gly) single nucleotide variant Inborn genetic diseases [RCV003363356] Chr4:158232947 [GRCh38]
Chr4:159154099 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_018342.5(TMEM144):c.367T>A (p.Ser123Thr) single nucleotide variant Inborn genetic diseases [RCV003374609] Chr4:158219344 [GRCh38]
Chr4:159140496 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_018342.5(TMEM144):c.503A>G (p.Asn168Ser) single nucleotide variant Inborn genetic diseases [RCV003362628] Chr4:158235445 [GRCh38]
Chr4:159156597 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3		 pathogenic
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
GRCh37/hg19 4q32.1(chr4:158835348-160065395)x1 copy number loss not specified [RCV003986505] Chr4:158835348..160065395 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3237
Count of miRNA genes:1133
Interacting mature miRNAs:1446
Transcripts:ENST00000296529, ENST00000502698, ENST00000503200, ENST00000503404, ENST00000504569, ENST00000505049, ENST00000505189, ENST00000508243, ENST00000509278, ENST00000511038, ENST00000511532, ENST00000512272, ENST00000512481, ENST00000513744, ENST00000514346, ENST00000514558, ENST00000514971
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
RH102473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374159,176,188 - 159,176,319UniSTSGRCh37
Build 364159,395,638 - 159,395,769RGDNCBI36
Celera4156,518,609 - 156,518,740RGD
Cytogenetic Map4q32.1UniSTS
HuRef4154,927,541 - 154,927,672UniSTS
GeneMap99-GB4 RH Map4644.78UniSTS
D4S445  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374159,170,946 - 159,171,157UniSTSGRCh37
Build 364159,390,396 - 159,390,607RGDNCBI36
Celera4156,513,368 - 156,513,579RGD
Cytogenetic Map4q32.1UniSTS
HuRef4154,922,276 - 154,922,503UniSTS
TNG Radiation Hybrid Map495277.0UniSTS
STS-N34526  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374159,176,007 - 159,176,155UniSTSGRCh37
Build 364159,395,457 - 159,395,605RGDNCBI36
Celera4156,518,428 - 156,518,576RGD
Cytogenetic Map4q32.1UniSTS
HuRef4154,927,360 - 154,927,508UniSTS
TNG Radiation Hybrid Map495277.0UniSTS
GeneMap99-GB4 RH Map4642.76UniSTS
NCBI RH Map41634.3UniSTS
SHGC4-1558  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374159,138,826 - 159,138,985UniSTSGRCh37
Build 364159,358,276 - 159,358,435RGDNCBI36
Celera4156,481,249 - 156,481,408RGD
Cytogenetic Map4q32.1UniSTS
HuRef4154,890,163 - 154,890,322UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 41 42 68 5 3 6 24 1454 8 184 42 22
Low 2318 2510 1373 356 1277 197 3599 1386 2218 381 1252 1506 170 1197 2058 4
Below cutoff 73 432 283 259 539 260 731 805 55 30 20 50 2 1 7 708 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_018342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006714254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047415908 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC098679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK002017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC050297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000296529   ⟹   ENSP00000296529
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,210,486 - 158,255,416 (+)Ensembl
RefSeq Acc Id: ENST00000502698   ⟹   ENSP00000425907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,211,225 - 158,215,313 (+)Ensembl
RefSeq Acc Id: ENST00000503200   ⟹   ENSP00000420990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,210,486 - 158,217,420 (+)Ensembl
RefSeq Acc Id: ENST00000503404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,233,036 - 158,255,287 (+)Ensembl
RefSeq Acc Id: ENST00000504569   ⟹   ENSP00000422082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,210,484 - 158,219,390 (+)Ensembl
RefSeq Acc Id: ENST00000505049   ⟹   ENSP00000425266
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,201,604 - 158,215,313 (+)Ensembl
RefSeq Acc Id: ENST00000505189   ⟹   ENSP00000421289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,201,604 - 158,217,349 (+)Ensembl
RefSeq Acc Id: ENST00000508243   ⟹   ENSP00000422297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,210,194 - 158,235,443 (+)Ensembl
RefSeq Acc Id: ENST00000509278   ⟹   ENSP00000425815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,210,485 - 158,214,016 (+)Ensembl
RefSeq Acc Id: ENST00000511038   ⟹   ENSP00000422255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,201,615 - 158,212,698 (+)Ensembl
RefSeq Acc Id: ENST00000511532   ⟹   ENSP00000420930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,210,555 - 158,255,204 (+)Ensembl
RefSeq Acc Id: ENST00000512272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,237,337 - 158,244,328 (+)Ensembl
RefSeq Acc Id: ENST00000512481   ⟹   ENSP00000424659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,210,459 - 158,217,349 (+)Ensembl
RefSeq Acc Id: ENST00000513744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,210,486 - 158,211,906 (+)Ensembl
RefSeq Acc Id: ENST00000514346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,210,486 - 158,212,220 (+)Ensembl
RefSeq Acc Id: ENST00000514558   ⟹   ENSP00000426211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,210,485 - 158,234,390 (+)Ensembl
RefSeq Acc Id: ENST00000514971   ⟹   ENSP00000422899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4158,211,266 - 158,217,361 (+)Ensembl
RefSeq Acc Id: NM_018342   ⟹   NP_060812
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,210,486 - 158,255,416 (+)NCBI
GRCh374159,122,749 - 159,176,439 (+)NCBI
Build 364159,351,126 - 159,395,889 (+)NCBI Archive
Celera4156,473,824 - 156,518,860 (+)RGD
HuRef4154,882,738 - 154,927,792 (+)RGD
CHM1_14159,108,570 - 159,153,563 (+)NCBI
T2T-CHM13v2.04161,562,668 - 161,607,571 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005263110   ⟹   XP_005263167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,210,486 - 158,255,416 (+)NCBI
GRCh374159,122,749 - 159,176,439 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017008366   ⟹   XP_016863855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,210,486 - 158,255,416 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047415908   ⟹   XP_047271864
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,210,486 - 158,237,634 (+)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_060812   ⟸   NM_018342
- UniProtKB: Q49A05 (UniProtKB/Swiss-Prot),   D3DP24 (UniProtKB/Swiss-Prot),   Q9NUT3 (UniProtKB/Swiss-Prot),   Q7Z5S9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005263167   ⟸   XM_005263110
- Peptide Label: isoform X1
- UniProtKB: Q49A05 (UniProtKB/Swiss-Prot),   D3DP24 (UniProtKB/Swiss-Prot),   Q9NUT3 (UniProtKB/Swiss-Prot),   Q7Z5S9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016863855   ⟸   XM_017008366
- Peptide Label: isoform X1
- UniProtKB: Q49A05 (UniProtKB/Swiss-Prot),   D3DP24 (UniProtKB/Swiss-Prot),   Q9NUT3 (UniProtKB/Swiss-Prot),   Q7Z5S9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000425907   ⟸   ENST00000502698
RefSeq Acc Id: ENSP00000420990   ⟸   ENST00000503200
RefSeq Acc Id: ENSP00000422082   ⟸   ENST00000504569
RefSeq Acc Id: ENSP00000421289   ⟸   ENST00000505189
RefSeq Acc Id: ENSP00000425266   ⟸   ENST00000505049
RefSeq Acc Id: ENSP00000296529   ⟸   ENST00000296529
RefSeq Acc Id: ENSP00000422297   ⟸   ENST00000508243
RefSeq Acc Id: ENSP00000425815   ⟸   ENST00000509278
RefSeq Acc Id: ENSP00000420930   ⟸   ENST00000511532
RefSeq Acc Id: ENSP00000422255   ⟸   ENST00000511038
RefSeq Acc Id: ENSP00000424659   ⟸   ENST00000512481
RefSeq Acc Id: ENSP00000426211   ⟸   ENST00000514558
RefSeq Acc Id: ENSP00000422899   ⟸   ENST00000514971
RefSeq Acc Id: XP_047271864   ⟸   XM_047415908
- Peptide Label: isoform X2
- UniProtKB: D6RDI4 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7Z5S9-F1-model_v2 AlphaFold Q7Z5S9 1-345 view protein structure

Promoters
RGD ID:6868768
Promoter ID:EPDNEW_H7549
Type:initiation region
Name:TMEM144_3
Description:transmembrane protein 144
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7550  EPDNEW_H7551  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,201,604 - 158,201,664EPDNEW
RGD ID:6868770
Promoter ID:EPDNEW_H7550
Type:initiation region
Name:TMEM144_2
Description:transmembrane protein 144
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7549  EPDNEW_H7551  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,210,215 - 158,210,275EPDNEW
RGD ID:6868772
Promoter ID:EPDNEW_H7551
Type:initiation region
Name:TMEM144_1
Description:transmembrane protein 144
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7549  EPDNEW_H7550  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384158,210,554 - 158,210,614EPDNEW
RGD ID:6802676
Promoter ID:HG_KWN:49363
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:NM_018342,   UC003IPW.2,   UC010IQI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 364159,350,879 - 159,351,379 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:25633 AgrOrtholog
COSMIC TMEM144 COSMIC
Ensembl Genes ENSG00000164124 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000296529 ENTREZGENE
  ENST00000296529.11 UniProtKB/Swiss-Prot
  ENST00000502698.5 UniProtKB/TrEMBL
  ENST00000503200.5 UniProtKB/TrEMBL
  ENST00000504569.5 UniProtKB/TrEMBL
  ENST00000505049.5 UniProtKB/TrEMBL
  ENST00000505189.5 UniProtKB/TrEMBL
  ENST00000508243.5 UniProtKB/TrEMBL
  ENST00000509278.5 UniProtKB/TrEMBL
  ENST00000511038.5 UniProtKB/TrEMBL
  ENST00000511532 ENTREZGENE
  ENST00000511532.5 UniProtKB/TrEMBL
  ENST00000512481.5 UniProtKB/TrEMBL
  ENST00000514558.5 UniProtKB/Swiss-Prot
  ENST00000514971.1 UniProtKB/TrEMBL
GTEx ENSG00000164124 GTEx
HGNC ID HGNC:25633 ENTREZGENE
Human Proteome Map TMEM144 Human Proteome Map
InterPro Sugar_transport UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TMEM144 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55314 UniProtKB/Swiss-Prot
NCBI Gene 55314 ENTREZGENE
OMIM 620325 OMIM
PANTHER PTHR16119 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSMEMBRANE PROTEIN 144 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TMEM144 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA144596252 PharmGKB
Superfamily-SCOP Multidrug resistance efflux transporter EmrE UniProtKB/Swiss-Prot
UniProt A0A1D5RMR6_HUMAN UniProtKB/TrEMBL
  D3DP24 ENTREZGENE
  D6R9I0_HUMAN UniProtKB/TrEMBL
  D6R9U5_HUMAN UniProtKB/TrEMBL
  D6RAX5_HUMAN UniProtKB/TrEMBL
  D6RCA2_HUMAN UniProtKB/TrEMBL
  D6RDF9_HUMAN UniProtKB/TrEMBL
  D6RDI4 ENTREZGENE, UniProtKB/TrEMBL
  D6RDN8_HUMAN UniProtKB/TrEMBL
  D6RIX5_HUMAN UniProtKB/TrEMBL
  Q49A05 ENTREZGENE
  Q7Z5S9 ENTREZGENE
  Q9NUT3 ENTREZGENE
  TM144_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D3DP24 UniProtKB/Swiss-Prot
  Q49A05 UniProtKB/Swiss-Prot
  Q9NUT3 UniProtKB/Swiss-Prot