PTF1A (pancreas associated transcription factor 1a) - Rat Genome Database

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Gene: PTF1A (pancreas associated transcription factor 1a) Homo sapiens
Analyze
Symbol: PTF1A
Name: pancreas associated transcription factor 1a
RGD ID: 1346483
HGNC Page HGNC
Description: Enables sequence-specific double-stranded DNA binding activity. Involved in cerebellum development; pancreas development; and tissue development. Predicted to be located in cytoplasm and nucleus. Predicted to be part of chromatin and transcription regulator complex. Implicated in pancreatic agenesis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: bHLH transcription factor p48; bHLHa29; class A basic helix-loop-helix protein 29; class II bHLH protein PTF1A; exocrine pancreas-specific transcription factor p48; p48; p48 DNA-binding subunit of transcription factor PTF1; PACA; PAGEN2; pancreas specific transcription factor, 1a; pancreas transcription factor 1 subunit alpha; pancreas-specific transcription factor 1a; PTF1-p48
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 Ensembl1023,192,312 - 23,194,245 (+)EnsemblGRCh38hg38GRCh38
GRCh381023,192,312 - 23,194,245 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371023,481,241 - 23,483,174 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361023,521,466 - 23,523,187 (+)NCBINCBI36hg18NCBI36
Build 341023,521,465 - 23,522,841NCBI
Celera1023,169,055 - 23,170,776 (+)NCBI
Cytogenetic Map10p12.2NCBI
HuRef1023,141,665 - 23,143,386 (+)NCBIHuRef
CHM1_11023,481,988 - 23,483,709 (+)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

Additional References at PubMed
PMID:1720355   PMID:2612907   PMID:8861960   PMID:9851981   PMID:10768861   PMID:12185368   PMID:12617822   PMID:15164054   PMID:15543146   PMID:16354684   PMID:17928434   PMID:18834332  
PMID:19274049   PMID:19650412   PMID:19741120   PMID:20668890   PMID:21873635   PMID:23339455   PMID:24212882   PMID:25355311   PMID:25775927   PMID:26151762   PMID:26184423   PMID:26937009  
PMID:27284104   PMID:27697859   PMID:28473536   PMID:30030434   PMID:32893856  


Genomics

Comparative Map Data
PTF1A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1023,192,312 - 23,194,245 (+)EnsemblGRCh38hg38GRCh38
GRCh381023,192,312 - 23,194,245 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371023,481,241 - 23,483,174 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361023,521,466 - 23,523,187 (+)NCBINCBI36hg18NCBI36
Build 341023,521,465 - 23,522,841NCBI
Celera1023,169,055 - 23,170,776 (+)NCBI
Cytogenetic Map10p12.2NCBI
HuRef1023,141,665 - 23,143,386 (+)NCBIHuRef
CHM1_11023,481,988 - 23,483,709 (+)NCBICHM1_1
Ptf1a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39219,450,474 - 19,452,312 (+)NCBIGRCm39mm39
GRCm39 Ensembl219,450,474 - 19,452,312 (+)Ensembl
GRCm38219,445,663 - 19,447,501 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl219,445,663 - 19,447,501 (+)EnsemblGRCm38mm10GRCm38
MGSCv37219,367,290 - 19,369,128 (+)NCBIGRCm37mm9NCBIm37
MGSCv36219,363,417 - 19,365,246 (+)NCBImm8
Celera219,344,731 - 19,346,569 (+)NCBICelera
Cytogenetic Map2A3NCBI
Ptf1a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21782,051,281 - 82,053,135 (+)NCBImRatBN7.2
Rnor_6.0 Ensembl1786,199,623 - 86,201,477 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01786,199,623 - 86,201,477 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01787,911,175 - 87,913,029 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41793,494,689 - 93,496,543 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11793,505,521 - 93,507,376 (+)NCBI
Celera1781,323,632 - 81,325,486 (+)NCBICelera
Cytogenetic Map17q12.3NCBI
Ptf1a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554295,808,124 - 5,809,522 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554295,807,804 - 5,809,522 (-)NCBIChiLan1.0ChiLan1.0
PTF1A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11023,731,808 - 23,732,880 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01023,356,165 - 23,359,579 (+)NCBIMhudiblu_PPA_v0panPan3
PTF1A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1210,069,594 - 10,071,360 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl210,069,581 - 10,071,336 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha28,761,404 - 8,763,210 (-)NCBI
ROS_Cfam_1.028,265,759 - 8,267,565 (-)NCBI
UMICH_Zoey_3.127,631,134 - 7,632,939 (-)NCBI
UNSW_CanFamBas_1.027,715,133 - 7,716,942 (-)NCBI
UU_Cfam_GSD_1.027,882,444 - 7,884,250 (-)NCBI
Ptf1a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934422,979,751 - 22,981,585 (+)NCBI
SpeTri2.0NW_0049365204,978,896 - 4,980,648 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTF1A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1051,818,388 - 51,819,761 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11051,817,697 - 51,820,147 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21057,473,803 - 57,475,233 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PTF1A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1922,944,122 - 22,965,905 (+)NCBI
ChlSab1.1 Ensembl922,964,164 - 22,965,565 (+)Ensembl
Vero_WHO_p1.0NW_02366605128,727,857 - 28,729,812 (+)NCBI
Ptf1a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247965,548,982 - 5,550,563 (-)NCBI

Position Markers
UniSTS:484191  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371023,481,460 - 23,482,835UniSTSGRCh37
Celera1023,169,055 - 23,170,430UniSTS
HuRef1023,141,665 - 23,143,040UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:91
Count of miRNA genes:81
Interacting mature miRNAs:84
Transcripts:ENST00000376504
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 visual system adipose tissue appendage
High
Medium 3 2 5 2 6 1 1
Low 248 3 13 6 5 11 4 384 1 409 24 1 6 7
Below cutoff 815 888 634 106 258 65 1735 676 2885 91 531 532 42 1 551 1173

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000376504   ⟹   ENSP00000365687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1023,192,312 - 23,194,245 (+)Ensembl
RefSeq Acc Id: ENST00000638469   ⟹   ENSP00000491649
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1023,192,564 - 23,193,997 (+)Ensembl
RefSeq Acc Id: ENST00000639082   ⟹   ENSP00000492481
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1023,193,271 - 23,194,163 (+)Ensembl
RefSeq Acc Id: ENST00000639873   ⟹   ENSP00000491542
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1023,193,332 - 23,194,163 (+)Ensembl
RefSeq Acc Id: ENST00000640579   ⟹   ENSP00000492055
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1023,193,354 - 23,194,162 (+)Ensembl
RefSeq Acc Id: ENST00000640697   ⟹   ENSP00000491704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1023,193,361 - 23,194,163 (+)Ensembl
RefSeq Acc Id: NM_178161   ⟹   NP_835455
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381023,192,312 - 23,194,245 (+)NCBI
GRCh371023,481,460 - 23,483,181 (+)ENTREZGENE
Build 361023,521,466 - 23,523,187 (+)NCBI Archive
HuRef1023,141,665 - 23,143,386 (+)ENTREZGENE
CHM1_11023,481,988 - 23,483,709 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_835455 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAG09441 (Get FASTA)   NCBI Sequence Viewer  
  DAA01052 (Get FASTA)   NCBI Sequence Viewer  
  Q7RTS3 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_835455   ⟸   NM_178161
- UniProtKB: Q7RTS3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000491649   ⟸   ENST00000638469
RefSeq Acc Id: ENSP00000491542   ⟸   ENST00000639873
RefSeq Acc Id: ENSP00000492481   ⟸   ENST00000639082
RefSeq Acc Id: ENSP00000365687   ⟸   ENST00000376504
RefSeq Acc Id: ENSP00000491704   ⟸   ENST00000640697
RefSeq Acc Id: ENSP00000492055   ⟸   ENST00000640579
Protein Domains
bHLH

Promoters
RGD ID:7217179
Promoter ID:EPDNEW_H14336
Type:initiation region
Name:PTF1A_1
Description:pancreas specific transcription factor, 1a
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381023,192,354 - 23,192,414EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
PTF1A, 24-BP DEL, NT437 deletion Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000023626] Chr10:10p12.3 pathogenic
NM_178161.3(PTF1A):c.886C>T (p.Arg296Ter) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000003594] Chr10:23193805 [GRCh38]
Chr10:23482734 [GRCh37]
Chr10:10p12.2
pathogenic
NM_178161.3(PTF1A):c.705dup (p.Pro236fs) duplication Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000003595] Chr10:23193229..23193230 [GRCh38]
Chr10:23482158..23482159 [GRCh37]
Chr10:10p12.2
pathogenic
NC_000010.10:g.23456513A>C single nucleotide variant Type 2 diabetes mellitus [RCV000626375] Chr10:23167584 [GRCh38]
Chr10:23456513 [GRCh37]
Chr10:10p12.2
benign
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]|See cases [RCV000053512] Chr10:90421..29058318 [GRCh38]
Chr10:224406..29347247 [GRCh37]
Chr10:126361..29387253 [NCBI36]
Chr10:10p15.3-12.1
pathogenic
NM_178161.2(PTF1A):c.142G>A (p.Ala48Thr) single nucleotide variant Malignant melanoma [RCV000062023] Chr10:23192672 [GRCh38]
Chr10:23481601 [GRCh37]
Chr10:23521607 [NCBI36]
Chr10:10p12.2
not provided
NM_178161.3(PTF1A):c.265C>A (p.Leu89Ile) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001103691]|Monogenic diabetes [RCV000664132] Chr10:23192795 [GRCh38]
Chr10:23481724 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000764885]|Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001103692]|Monogenic diabetes [RCV000445414]|not provided [RCV000118081]|not specified [RCV001172452] Chr10:23192799 [GRCh38]
Chr10:23481728 [GRCh37]
Chr10:10p12.2
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001093986]|Permanent neonatal diabetes mellitus [RCV000333285]|not provided [RCV001522641]|not specified [RCV000118082] Chr10:23193706 [GRCh38]
Chr10:23482635 [GRCh37]
Chr10:10p12.2
benign|likely benign
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3 copy number gain See cases [RCV000138428] Chr10:90205..26339978 [GRCh38]
Chr10:224406..26628907 [GRCh37]
Chr10:126145..26668913 [NCBI36]
Chr10:10p15.3-12.1
pathogenic
GRCh38/hg38 10p12.31-11.22(chr10:19088161-32732293)x3 copy number gain See cases [RCV000139427] Chr10:19088161..32732293 [GRCh38]
Chr10:19377090..33021221 [GRCh37]
Chr10:19417096..33061227 [NCBI36]
Chr10:10p12.31-11.22
likely pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3 copy number gain See cases [RCV000141497] Chr10:4604734..48074662 [GRCh38]
Chr10:4646926..47531169 [GRCh37]
Chr10:4636926..47125152 [NCBI36]
Chr10:10p15.1-q11.22
benign
NM_178161.3(PTF1A):c.705del (p.Pro236fs) deletion not provided [RCV000255341] Chr10:23193230 [GRCh38]
Chr10:23482159 [GRCh37]
Chr10:10p12.2
pathogenic
NM_178161.3(PTF1A):c.102C>T (p.Asp34=) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000303502]|not provided [RCV000921053] Chr10:23192632 [GRCh38]
Chr10:23481561 [GRCh37]
Chr10:10p12.2
benign|likely benign|uncertain significance
NM_178161.3(PTF1A):c.*306C>G single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000287346] Chr10:23194212 [GRCh38]
Chr10:23483141 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.386C>T (p.Ala129Val) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000325730] Chr10:23192916 [GRCh38]
Chr10:23481845 [GRCh37]
Chr10:10p12.2
benign|likely benign
NM_178161.3(PTF1A):c.263G>A (p.Gly88Asp) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000273000] Chr10:23192793 [GRCh38]
Chr10:23481722 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.*15G>A single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000293385] Chr10:23193921 [GRCh38]
Chr10:23482850 [GRCh37]
Chr10:10p12.2
benign
NM_178161.3(PTF1A):c.960C>A (p.Asn320Lys) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000385429]|Monogenic diabetes [RCV001174490] Chr10:23193879 [GRCh38]
Chr10:23482808 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.*190C>T single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000336536] Chr10:23194096 [GRCh38]
Chr10:23483025 [GRCh37]
Chr10:10p12.2
likely benign
NM_178161.3(PTF1A):c.162C>T (p.Ser54=) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000365135]|not provided [RCV000903959] Chr10:23192692 [GRCh38]
Chr10:23481621 [GRCh37]
Chr10:10p12.2
benign|likely benign
NM_178161.3(PTF1A):c.654C>A (p.Leu218=) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000275928]|not provided [RCV000954131] Chr10:23193184 [GRCh38]
Chr10:23482113 [GRCh37]
Chr10:10p12.2
likely benign|uncertain significance
NM_178161.3(PTF1A):c.*157_*159GAT[1] microsatellite Permanent neonatal diabetes mellitus [RCV000278108] Chr10:23194063..23194065 [GRCh38]
Chr10:23482992..23482994 [GRCh37]
Chr10:10p12.2
likely benign
NM_178161.3(PTF1A):c.617G>T (p.Arg206Leu) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000382731] Chr10:23193147 [GRCh38]
Chr10:23482076 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.*265A>G single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000406210] Chr10:23194171 [GRCh38]
Chr10:23483100 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.*117A>G single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV000336724] Chr10:23194023 [GRCh38]
Chr10:23482952 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.*126_*129del deletion Permanent neonatal diabetes mellitus [RCV000374867] Chr10:23194029..23194032 [GRCh38]
Chr10:23482958..23482961 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.44C>T (p.Ala15Val) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001108845]|not provided [RCV000523031] Chr10:23192574 [GRCh38]
Chr10:23481503 [GRCh37]
Chr10:10p12.2
conflicting interpretations of pathogenicity|uncertain significance
NC_000010.10:g.23452642A>G single nucleotide variant Type 2 diabetes mellitus [RCV000626376] Chr10:23163713 [GRCh38]
Chr10:23452642 [GRCh37]
Chr10:10p12.2
benign
NM_001365862.2(C10orf67):c.1204-4652A>G single nucleotide variant Type 2 diabetes mellitus [RCV000626381] Chr10:23255343 [GRCh38]
Chr10:23544272 [GRCh37]
Chr10:10p12.2
benign
NM_001365862.2(C10orf67):c.1437+6169G>A single nucleotide variant Type 2 diabetes mellitus [RCV000626383] Chr10:23233560 [GRCh38]
Chr10:23522489 [GRCh37]
Chr10:10p12.2
benign
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3 copy number gain See cases [RCV000447131] Chr10:100026..30278548 [GRCh37]
Chr10:10p15.3-11.23
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_178161.3(PTF1A):c.785-10A>G single nucleotide variant not specified [RCV000503543] Chr10:23193694 [GRCh38]
Chr10:23482623 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.499G>A (p.Ala167Thr) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001105641]|not specified [RCV000501780] Chr10:23193029 [GRCh38]
Chr10:23481958 [GRCh37]
Chr10:10p12.2
likely benign|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3 copy number gain See cases [RCV000510893] Chr10:100026..50961640 [GRCh37]
Chr10:10p15.3-q11.23
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NC_000010.10:g.23466734G>A single nucleotide variant Type 2 diabetes mellitus [RCV000626374] Chr10:23177805 [GRCh38]
Chr10:23466734 [GRCh37]
Chr10:10p12.2
benign
NM_001365862.2(C10orf67):c.1203+6658G>T single nucleotide variant Type 2 diabetes mellitus [RCV000626378] Chr10:23259604 [GRCh38]
Chr10:23548533 [GRCh37]
Chr10:10p12.2
benign
NC_000010.10:g.23476431G>A single nucleotide variant Type 2 diabetes mellitus [RCV000626382] Chr10:23187502 [GRCh38]
Chr10:23476431 [GRCh37]
Chr10:10p12.2
benign
NC_000010.10:g.23478779T>G single nucleotide variant Type 2 diabetes mellitus [RCV000626379] Chr10:23189850 [GRCh38]
Chr10:23478779 [GRCh37]
Chr10:10p12.2
benign
NM_001365862.2(C10orf67):c.913-1375T>G single nucleotide variant Type 2 diabetes mellitus [RCV000626380] Chr10:23283453 [GRCh38]
Chr10:23572382 [GRCh37]
Chr10:10p12.2
benign
NM_001365862.2(C10orf67):c.854-537C>T single nucleotide variant Type 2 diabetes mellitus [RCV000626377] Chr10:23290495 [GRCh38]
Chr10:23579424 [GRCh37]
Chr10:10p12.2
benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_178161.3(PTF1A):c.264C>T (p.Gly88=) single nucleotide variant not provided [RCV000896843] Chr10:23192794 [GRCh38]
Chr10:23481723 [GRCh37]
Chr10:10p12.2
likely benign
NM_178161.3(PTF1A):c.969A>G (p.Pro323=) single nucleotide variant not provided [RCV000948834] Chr10:23193888 [GRCh38]
Chr10:23482817 [GRCh37]
Chr10:10p12.2
likely benign
NM_178161.3(PTF1A):c.219G>C (p.Ala73=) single nucleotide variant not provided [RCV000903608] Chr10:23192749 [GRCh38]
Chr10:23481678 [GRCh37]
Chr10:10p12.2
likely benign
NM_178161.3(PTF1A):c.571C>A (p.Pro191Thr) single nucleotide variant Pancreatic agenesis 2 [RCV000984966] Chr10:23193101 [GRCh38]
Chr10:23482030 [GRCh37]
Chr10:10p12.2
pathogenic
NM_178161.3(PTF1A):c.341C>T (p.Ser114Leu) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001103693] Chr10:23192871 [GRCh38]
Chr10:23481800 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.*283T>C single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001106776] Chr10:23194189 [GRCh38]
Chr10:23483118 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.201C>T (p.Cys67=) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001108847] Chr10:23192731 [GRCh38]
Chr10:23481660 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.867C>G (p.Leu289=) single nucleotide variant not provided [RCV000907786] Chr10:23193786 [GRCh38]
Chr10:23482715 [GRCh37]
Chr10:10p12.2
likely benign
NM_178161.3(PTF1A):c.207G>A (p.Leu69=) single nucleotide variant not provided [RCV000907353] Chr10:23192737 [GRCh38]
Chr10:23481666 [GRCh37]
Chr10:10p12.2
likely benign
NM_178161.3(PTF1A):c.362G>A (p.Cys121Tyr) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001103694] Chr10:23192892 [GRCh38]
Chr10:23481821 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.446C>T (p.Ala149Val) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001103695] Chr10:23192976 [GRCh38]
Chr10:23481905 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.283G>C (p.Gly95Arg) single nucleotide variant Monogenic diabetes [RCV001174486] Chr10:23192813 [GRCh38]
Chr10:23481742 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.851C>A (p.Thr284Asn) single nucleotide variant not provided [RCV000911082] Chr10:23193770 [GRCh38]
Chr10:23482699 [GRCh37]
Chr10:10p12.2
likely benign
NM_178161.3(PTF1A):c.705G>C (p.Gly235=) single nucleotide variant not provided [RCV000913438] Chr10:23193235 [GRCh38]
Chr10:23482164 [GRCh37]
Chr10:10p12.2
likely benign
NM_178161.3(PTF1A):c.115G>A (p.Gly39Ser) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001108846] Chr10:23192645 [GRCh38]
Chr10:23481574 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.229G>A (p.Ala77Thr) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001108848] Chr10:23192759 [GRCh38]
Chr10:23481688 [GRCh37]
Chr10:10p12.2
likely benign
NM_178161.3(PTF1A):c.440C>T (p.Ala147Val) single nucleotide variant Monogenic diabetes [RCV001174488] Chr10:23192970 [GRCh38]
Chr10:23481899 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.520C>T (p.Arg174Trp) single nucleotide variant Monogenic diabetes [RCV001174489] Chr10:23193050 [GRCh38]
Chr10:23481979 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.343C>T (p.Pro115Ser) single nucleotide variant Monogenic diabetes [RCV001174487] Chr10:23192873 [GRCh38]
Chr10:23481802 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.*272G>A single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001106775] Chr10:23194178 [GRCh38]
Chr10:23483107 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.*316T>C single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001106777] Chr10:23194222 [GRCh38]
Chr10:23483151 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.8C>T (p.Ala3Val) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001108844] Chr10:23192538 [GRCh38]
Chr10:23481467 [GRCh37]
Chr10:10p12.2
uncertain significance
NM_178161.3(PTF1A):c.462G>T (p.Arg154=) single nucleotide variant Diabetes mellitus, permanent neonatal, with cerebellar agenesis [RCV001103696] Chr10:23192992 [GRCh38]
Chr10:23481921 [GRCh37]
Chr10:10p12.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23734 AgrOrtholog
COSMIC PTF1A COSMIC
Ensembl Genes ENSG00000168267 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000365687 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000491542 UniProtKB/TrEMBL
  ENSP00000491649 UniProtKB/TrEMBL
  ENSP00000491704 UniProtKB/TrEMBL
  ENSP00000492055 UniProtKB/TrEMBL
  ENSP00000492481 UniProtKB/TrEMBL
Ensembl Transcript ENST00000376504 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000638469 UniProtKB/TrEMBL
  ENST00000639082 UniProtKB/TrEMBL
  ENST00000639873 UniProtKB/TrEMBL
  ENST00000640579 UniProtKB/TrEMBL
  ENST00000640697 UniProtKB/TrEMBL
Gene3D-CATH 4.10.280.10 UniProtKB/Swiss-Prot
GTEx ENSG00000168267 GTEx
HGNC ID HGNC:23734 ENTREZGENE
Human Proteome Map PTF1A Human Proteome Map
InterPro bHLH_dom UniProtKB/Swiss-Prot
  HLH_DNA-bd_sf UniProtKB/Swiss-Prot
KEGG Report hsa:256297 UniProtKB/Swiss-Prot
NCBI Gene 256297 ENTREZGENE
OMIM 607194 OMIM
  609069 OMIM
  615935 OMIM
Pfam HLH UniProtKB/Swiss-Prot
PharmGKB PA134864129 PharmGKB
PROSITE BHLH UniProtKB/Swiss-Prot
SMART HLH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47459 UniProtKB/Swiss-Prot
UniProt A0A1W2PPH2_HUMAN UniProtKB/TrEMBL
  A0A1W2PQC4_HUMAN UniProtKB/TrEMBL
  A0A1W2PQF5_HUMAN UniProtKB/TrEMBL
  A0A1W2PR29_HUMAN UniProtKB/TrEMBL
  A0A1W2PRT5_HUMAN UniProtKB/TrEMBL
  PTF1A_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary Q9HC25 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-02-27 PTF1A  pancreas associated transcription factor 1a    pancreas specific transcription factor, 1a  Symbol and/or name change 5135510 APPROVED
2011-08-17 PTF1A  pancreas specific transcription factor, 1a  PTF1A  pancreas specific transcription factor, 1a  Symbol and/or name change 5135510 APPROVED