TEX12 (testis expressed 12) - Rat Genome Database

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Gene: TEX12 (testis expressed 12) Homo sapiens
Analyze
Symbol: TEX12
Name: testis expressed 12
RGD ID: 1351277
HGNC Page HGNC:11734
Description: Predicted to be involved in synaptonemal complex assembly. Predicted to act upstream of or within meiotic DNA repair synthesis. Predicted to be located in chromosome. Predicted to be active in central element.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: testis expressed sequence 12; testis-expressed protein 12; testis-expressed sequence 12 protein; testis-expressed sequence 12 protein variant 1; testis-expressed sequence 12 protein variant 2; testis-expressed sequence 12 protein variant 3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
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
GRCh3811112,167,372 - 112,172,556 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11112,167,372 - 112,172,556 (+)EnsemblGRCh38hg38GRCh38
GRCh3711112,038,095 - 112,043,279 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611111,543,305 - 111,548,489 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411111,543,304 - 111,548,489NCBI
Celera11109,191,328 - 109,196,512 (+)NCBICelera
Cytogenetic Map11q23.1NCBI
HuRef11107,962,266 - 107,967,451 (+)NCBIHuRef
CHM1_111111,921,558 - 111,926,733 (+)NCBICHM1_1
T2T-CHM13v2.011112,177,701 - 112,182,885 (+)NCBIT2T-CHM13v2.0
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

Biological Process

Cellular Component
central element  (IBA,IEA,ISS)
chromosome  (IEA,ISS)
synaptonemal complex  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
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:11279525   PMID:12477932   PMID:15489334   PMID:17207965   PMID:19773279   PMID:20967262   PMID:21873635   PMID:22870393   PMID:24182552   PMID:29932616   PMID:31437213   PMID:32296183  
PMID:32814053   PMID:34373646   PMID:34880391   PMID:37012491  


Genomics

Comparative Map Data
TEX12
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811112,167,372 - 112,172,556 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11112,167,372 - 112,172,556 (+)EnsemblGRCh38hg38GRCh38
GRCh3711112,038,095 - 112,043,279 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611111,543,305 - 111,548,489 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411111,543,304 - 111,548,489NCBI
Celera11109,191,328 - 109,196,512 (+)NCBICelera
Cytogenetic Map11q23.1NCBI
HuRef11107,962,266 - 107,967,451 (+)NCBIHuRef
CHM1_111111,921,558 - 111,926,733 (+)NCBICHM1_1
T2T-CHM13v2.011112,177,701 - 112,182,885 (+)NCBIT2T-CHM13v2.0
Tex12
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39950,468,448 - 50,472,568 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl950,468,119 - 50,472,625 (-)EnsemblGRCm39 Ensembl
GRCm38950,557,148 - 50,561,268 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl950,556,819 - 50,561,325 (-)EnsemblGRCm38mm10GRCm38
MGSCv37950,365,253 - 50,369,373 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36950,309,049 - 50,313,555 (-)NCBIMGSCv36mm8
Celera947,852,089 - 47,856,215 (-)NCBICelera
Cytogenetic Map9A5.3NCBI
cM Map927.75NCBI
Tex12
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8859,804,662 - 59,809,595 (-)NCBIGRCr8
mRatBN7.2850,908,161 - 50,913,202 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl850,909,052 - 50,913,217 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx856,415,232 - 56,417,262 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0854,694,130 - 54,696,160 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0852,558,406 - 52,560,436 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0854,991,501 - 54,999,454 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl854,992,841 - 54,994,871 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0853,588,887 - 53,597,656 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4853,919,759 - 53,921,789 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera850,458,020 - 50,460,050 (-)NCBICelera
Cytogenetic Map8q23NCBI
Tex12
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541213,831,353 - 13,834,481 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541213,829,637 - 13,834,481 (+)NCBIChiLan1.0ChiLan1.0
TEX12
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29112,912,680 - 112,918,879 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111114,007,026 - 114,012,280 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011107,048,417 - 107,053,655 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111110,891,636 - 110,896,829 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11110,817,016 - 110,896,829 (+)Ensemblpanpan1.1panPan2
TEX12
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1520,968,201 - 20,972,710 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl520,968,185 - 20,972,850 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha520,890,863 - 20,895,367 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0520,990,427 - 20,994,929 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl520,990,411 - 20,993,151 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1521,053,258 - 21,057,763 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0520,953,522 - 20,958,026 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0521,001,692 - 21,006,197 (-)NCBIUU_Cfam_GSD_1.0
Tex12
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494794,402,493 - 94,408,253 (+)NCBIHiC_Itri_2
SpeTri2.0NW_0049366122,297,754 - 2,303,130 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TEX12
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl939,864,148 - 39,869,979 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1939,864,093 - 39,869,572 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2944,716,292 - 44,721,731 (+)NCBISscrofa10.2Sscrofa10.2susScr3
Tex12
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247847,317,507 - 7,322,619 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247847,317,642 - 7,324,128 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TEX12
4 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11q23.1(chr11:111659380-112255732)x3 copy number gain See cases [RCV000134885] Chr11:111659380..112255732 [GRCh38]
Chr11:111530104..112126455 [GRCh37]
Chr11:111035314..111631665 [NCBI36]
Chr11:11q23.1		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_031275.4(TEX12):c.310A>G (p.Ile104Val) single nucleotide variant Inborn genetic diseases [RCV003295888] Chr11:112171854 [GRCh38]
Chr11:112042577 [GRCh37]
Chr11:11q23.1		 uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2		 pathogenic
GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1 copy number loss not provided [RCV000848741] Chr11:104101411..116680918 [GRCh37]
Chr11:11q22.3-23.3		 pathogenic
GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1 copy number loss not provided [RCV001006439] Chr11:103320065..114349787 [GRCh37]
Chr11:11q22.3-23.2		 pathogenic
GRCh37/hg19 11q23.1-23.3(chr11:110969076-114578509)x1 copy number loss not provided [RCV000848936] Chr11:110969076..114578509 [GRCh37]
Chr11:11q23.1-23.3		 uncertain significance
NM_000317.3(PTS):c.146A>G (p.His49Arg) single nucleotide variant 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency [RCV000674378]|not provided [RCV000986136] Chr11:112228656 [GRCh38]
Chr11:112099379 [GRCh37]
Chr11:11q23.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1 copy number loss not provided [RCV001006445] Chr11:105699599..114524876 [GRCh37]
Chr11:11q22.3-23.3		 pathogenic
GRCh37/hg19 11q23.1(chr11:111974627-112188807)x1 copy number loss not provided [RCV001258500] Chr11:111974627..112188807 [GRCh37]
Chr11:11q23.1		 uncertain significance
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3		 uncertain significance
NC_000011.9:g.(?_111171709)_(112104278_?)dup duplication 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency [RCV003111003]|Pyruvate dehydrogenase E2 deficiency [RCV003111004] Chr11:111171709..112104278 [GRCh37]
Chr11:11q23.1		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
GRCh37/hg19 11q22.3-23.3(chr11:109328787-116414966)x1 copy number loss not provided [RCV002474547] Chr11:109328787..116414966 [GRCh37]
Chr11:11q22.3-23.3		 pathogenic
NM_031275.4(TEX12):c.139T>C (p.Phe47Leu) single nucleotide variant Inborn genetic diseases [RCV002783195] Chr11:112170494 [GRCh38]
Chr11:112041217 [GRCh37]
Chr11:11q23.1		 uncertain significance
NM_031275.4(TEX12):c.286G>A (p.Ala96Thr) single nucleotide variant Inborn genetic diseases [RCV002673419] Chr11:112171830 [GRCh38]
Chr11:112042553 [GRCh37]
Chr11:11q23.1		 uncertain significance
NM_031275.4(TEX12):c.110A>G (p.Asp37Gly) single nucleotide variant Inborn genetic diseases [RCV003378840] Chr11:112170465 [GRCh38]
Chr11:112041188 [GRCh37]
Chr11:11q23.1		 uncertain significance
GRCh37/hg19 11q23.1(chr11:111855954-112293098)x3 copy number gain not provided [RCV003484851] Chr11:111855954..112293098 [GRCh37]
Chr11:11q23.1		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:232
Count of miRNA genes:134
Interacting mature miRNAs:145
Transcripts:ENST00000280358, ENST00000530752
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.

Markers in Region
RH93266  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711112,043,111 - 112,043,231UniSTSGRCh37
Build 3611111,548,321 - 111,548,441RGDNCBI36
Celera11109,196,344 - 109,196,464RGD
Cytogenetic Map11q22UniSTS
HuRef11107,967,283 - 107,967,403UniSTS
GeneMap99-GB4 RH Map11371.36UniSTS
G65772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711112,039,987 - 112,041,391UniSTSGRCh37
Celera11109,193,220 - 109,194,624UniSTS
Cytogenetic Map11q22UniSTS
HuRef11107,964,159 - 107,965,563UniSTS


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 328
Low 591 766 142 28 487 17 2104 519 413 30 356 287 14 329 1443 1
Below cutoff 1746 1785 1326 480 1022 339 2150 1574 2800 302 684 1180 148 826 1316 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000280358   ⟹   ENSP00000280358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11112,167,372 - 112,172,556 (+)Ensembl
RefSeq Acc Id: ENST00000530752   ⟹   ENSP00000436893
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11112,167,372 - 112,172,264 (+)Ensembl
RefSeq Acc Id: NM_031275   ⟹   NP_112565
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811112,167,372 - 112,172,556 (+)NCBI
GRCh3711112,004,926 - 112,043,279 (+)NCBI
Build 3611111,543,305 - 111,548,489 (+)NCBI Archive
Celera11109,191,328 - 109,196,512 (+)RGD
HuRef11107,962,266 - 107,967,451 (+)ENTREZGENE
CHM1_111111,921,558 - 111,926,733 (+)NCBI
T2T-CHM13v2.011112,177,701 - 112,182,885 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_112565   ⟸   NM_031275
- UniProtKB: A6NDL9 (UniProtKB/Swiss-Prot),   B0YIX3 (UniProtKB/Swiss-Prot),   Q9BXU0 (UniProtKB/Swiss-Prot),   B0YIX2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000436893   ⟸   ENST00000530752
RefSeq Acc Id: ENSP00000280358   ⟸   ENST00000280358

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BXU0-F1-model_v2 AlphaFold Q9BXU0 1-123 view protein structure

Promoters
RGD ID:7222143
Promoter ID:EPDNEW_H16817
Type:initiation region
Name:TEX12_1
Description:testis expressed 12
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811112,167,372 - 112,167,432EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11734 AgrOrtholog
COSMIC TEX12 COSMIC
Ensembl Genes ENSG00000150783 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000280358 ENTREZGENE
  ENST00000280358.5 UniProtKB/Swiss-Prot
  ENST00000530752.5 UniProtKB/Swiss-Prot
GTEx ENSG00000150783 GTEx
HGNC ID HGNC:11734 ENTREZGENE
Human Proteome Map TEX12 Human Proteome Map
InterPro TEX12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56158 UniProtKB/Swiss-Prot
NCBI Gene 56158 ENTREZGENE
OMIM 605791 OMIM
PANTHER PTHR37349 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TESTIS-EXPRESSED PROTEIN 12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TEX12 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36451 PharmGKB
UniProt A6NDL9 ENTREZGENE
  B0YIX2 ENTREZGENE, UniProtKB/TrEMBL
  B0YIX3 ENTREZGENE
  Q9BXU0 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NDL9 UniProtKB/Swiss-Prot
  B0YIX3 UniProtKB/Swiss-Prot