MAFA (MAF bZIP transcription factor A) - Rat Genome Database

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Gene: MAFA (MAF bZIP transcription factor A) Homo sapiens
Analyze
Symbol: MAFA
Name: MAF bZIP transcription factor A
RGD ID: 1604438
HGNC Page HGNC
Description: Exhibits sequence-specific double-stranded DNA binding activity. Involved in insulin secretion; nitric oxide mediated signal transduction; and response to glucose. Localizes to nucleus. Biomarker of type 2 diabetes mellitus.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: hMafA; INSDM; pancreatic beta-cell-specific transcriptional activator; RIPE3b1; RIPE3b1 factor; transcription factor MafA; transcription factor RIPE3b1; v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A
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 Ensembl8143,419,182 - 143,430,732 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,428,064 - 143,430,732 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,510,234 - 144,512,902 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,582,658 - 144,583,719 (-)NCBINCBI36hg18NCBI36
Celera8140,823,405 - 140,824,466 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,762,838 - 139,764,567 (-)NCBIHuRef
CHM1_18144,550,697 - 144,553,066 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:11416124   PMID:12011435   PMID:12368292   PMID:14973194   PMID:15664997   PMID:15664999   PMID:15665000   PMID:15993959   PMID:16847327   PMID:17636040   PMID:17941991   PMID:18042454  
PMID:18508668   PMID:18522939   PMID:18753309   PMID:18948074   PMID:19274049   PMID:19393272   PMID:19407223   PMID:19573128   PMID:20158571   PMID:20208071   PMID:20213756   PMID:21278380  
PMID:21278484   PMID:21873635   PMID:22761608   PMID:22847061   PMID:23660596   PMID:23863625   PMID:24157940   PMID:26180087   PMID:26546820   PMID:26781599   PMID:26904947   PMID:28473536  
PMID:28933784   PMID:29070792   PMID:29096722   PMID:29180619   PMID:29339498   PMID:30021884   PMID:31614335   PMID:31822558  


Genomics

Comparative Map Data
MAFA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,419,182 - 143,430,732 (-)EnsemblGRCh38hg38GRCh38
GRCh388143,428,064 - 143,430,732 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,510,234 - 144,512,902 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,582,658 - 144,583,719 (-)NCBINCBI36hg18NCBI36
Celera8140,823,405 - 140,824,466 (-)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8139,762,838 - 139,764,567 (-)NCBIHuRef
CHM1_18144,550,697 - 144,553,066 (-)NCBICHM1_1
Mafa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,617,350 - 75,620,170 (-)NCBIGRCm39mm39
GRCm39 Ensembl1575,617,339 - 75,620,077 (-)Ensembl
GRCm381575,745,501 - 75,748,321 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1575,745,490 - 75,748,228 (-)EnsemblGRCm38mm10GRCm38
MGSCv371575,577,273 - 75,578,352 (-)NCBIGRCm37mm9NCBIm37
MGSCv361575,574,098 - 75,575,177 (-)NCBImm8
Celera1577,247,539 - 77,247,977 (-)NCBICelera
Cytogenetic Map15D3NCBI
Mafa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,432,292 - 107,435,061 (-)NCBI
Rnor_6.0 Ensembl7116,780,681 - 116,781,766 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.07116,779,368 - 116,781,815 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07116,670,579 - 116,673,032 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47113,707,043 - 113,708,128 (-)NCBIRGSC3.4rn4RGSC3.4
Celera7103,795,440 - 103,796,236 (-)NCBICelera
Cytogenetic Map7q34NCBI
Mafa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,135,484 - 2,136,560 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,134,340 - 2,136,962 (-)NCBIChiLan1.0ChiLan1.0
MAFA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v08140,178,322 - 140,181,152 (-)NCBIMhudiblu_PPA_v0panPan3
MAFA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,122,653 - 37,123,895 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,122,731 - 37,123,771 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,080,084 - 37,081,140 (-)NCBI
ROS_Cfam_1.01337,595,211 - 37,596,267 (-)NCBI
UMICH_Zoey_3.11337,269,620 - 37,270,676 (-)NCBI
UNSW_CanFamBas_1.01337,386,782 - 37,387,836 (-)NCBI
UU_Cfam_GSD_1.01337,867,731 - 37,868,787 (-)NCBI
Mafa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053031,258,281 - 1,260,665 (+)NCBI
SpeTri2.0NW_0049364708,684,392 - 8,686,758 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAFA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl41,091,263 - 1,092,818 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.141,090,018 - 1,093,600 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.241,173,340 - 1,175,218 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MAFA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,647,459 - 137,650,169 (-)NCBI
ChlSab1.1 Ensembl8137,648,746 - 137,649,804 (-)Ensembl
Mafa
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,327,857 - 13,330,079 (+)NCBI

Position Markers
PMC124472P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378144,511,675 - 144,512,576UniSTSGRCh37
Build 368144,582,818 - 144,583,719RGDNCBI36
Celera8140,823,565 - 140,824,466RGD
Cytogenetic Map8q24.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:977
Count of miRNA genes:622
Interacting mature miRNAs:702
Transcripts:ENST00000333480, ENST00000528185
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 1 1 5 6 15 5 606 619 5 2 107 7 1 606 1
Low 232 994 456 61 189 32 1036 437 414 71 482 457 35 29 774 3
Below cutoff 2052 1925 999 320 1417 211 2527 1106 2916 217 700 1035 113 1045 1338

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000333480   ⟹   ENSP00000328364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,428,064 - 143,430,732 (-)Ensembl
RefSeq Acc Id: ENST00000528185
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,419,182 - 143,429,898 (-)Ensembl
RefSeq Acc Id: NM_201589   ⟹   NP_963883
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,428,064 - 143,430,732 (-)NCBI
GRCh378144,510,230 - 144,512,602 (-)ENTREZGENE
Build 368144,582,658 - 144,583,719 (-)NCBI Archive
HuRef8139,762,838 - 139,764,567 (-)ENTREZGENE
CHM1_18144,550,697 - 144,553,066 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_963883 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAL89527 (Get FASTA)   NCBI Sequence Viewer  
  BAC20389 (Get FASTA)   NCBI Sequence Viewer  
  BAJ04327 (Get FASTA)   NCBI Sequence Viewer  
  Q8NHW3 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_963883   ⟸   NM_201589
- UniProtKB: Q8NHW3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000328364   ⟸   ENST00000333480
Protein Domains
bZIP


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 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 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 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(chr8:143329374-143531855)x3 copy number gain See cases [RCV000134350] Chr8:143329374..143531855 [GRCh38]
Chr8:144411544..144614025 [GRCh37]
Chr8:144482919..144685168 [NCBI36]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
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(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
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
NM_201589.4(MAFA):c.191C>T (p.Ser64Phe) single nucleotide variant Islet cell adenomatosis [RCV000590882] Chr8:143430216 [GRCh38]
Chr8:144512386 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
GRCh37/hg19 8q24.3(chr8:142840194-146280020) copy number gain Intellectual disability [RCV000626547] Chr8:142840194..146280020 [GRCh37]
Chr8:8q24.3
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 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 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(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
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(chr8:144056476-144733805)x1 copy number loss not provided [RCV000747921] Chr8:144056476..144733805 [GRCh37]
Chr8:8q24.3
benign
GRCh37/hg19 8q24.3(chr8:144411767-144510467)x3 copy number gain not provided [RCV000747934] Chr8:144411767..144510467 [GRCh37]
Chr8:8q24.3
benign
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 8q24.3(chr8:143616831-144930611)x1 copy number loss not provided [RCV001006152] Chr8:143616831..144930611 [GRCh37]
Chr8:8q24.3
pathogenic
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 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
GRCh37/hg19 8q24.3(chr8:144190206-146295771)x3 copy number gain not provided [RCV000847854] Chr8:144190206..146295771 [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 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(chr8:142132678-145569441)x1 copy number loss not provided [RCV001006150] Chr8:142132678..145569441 [GRCh37]
Chr8:8q24.3
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(chr8:144320365-144624272)x3 copy number gain not provided [RCV001006154] Chr8:144320365..144624272 [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 8q24.3(chr8:144262042-146295771)x3 copy number gain not provided [RCV001259034] Chr8:144262042..146295771 [GRCh37]
Chr8:8q24.3
likely pathogenic
GRCh37/hg19 8q24.3(chr8:144285728-144534781)x3 copy number gain not provided [RCV001259511] Chr8:144285728..144534781 [GRCh37]
Chr8:8q24.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:23145 AgrOrtholog
COSMIC MAFA COSMIC
Ensembl Genes ENSG00000182759 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000328364 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000333480 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000182759 GTEx
HGNC ID HGNC:23145 ENTREZGENE
Human Proteome Map MAFA Human Proteome Map
InterPro bZIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  bZIP_Maf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Maf_TF_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MafA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TF_DNA-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Transciption_factor_Maf_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:389692 UniProtKB/Swiss-Prot
NCBI Gene 389692 ENTREZGENE
OMIM 147630 OMIM
  610303 OMIM
PANTHER PTHR10129 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10129:SF30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam bZIP_Maf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Maf_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134963361 PharmGKB
PROSITE BZIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART BRLZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47454 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D4Q8H3_HUMAN UniProtKB/TrEMBL
  MAFA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-17 MAFA  MAF bZIP transcription factor A    v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A  Symbol and/or name change 5135510 APPROVED
2013-07-16 MAFA  v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A    v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian)  Symbol and/or name change 5135510 APPROVED
2011-08-17 MAFA  v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian)  MAFA  v-maf musculoaponeurotic fibrosarcoma oncogene homolog A (avian)  Symbol and/or name change 5135510 APPROVED