MAF (MAF bZIP transcription factor) - Rat Genome Database

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Gene: MAF (MAF bZIP transcription factor) Homo sapiens
Analyze
Symbol: MAF
Name: MAF bZIP transcription factor
RGD ID: 731331
HGNC Page HGNC:6776
Description: Enables identical protein binding activity and sequence-specific double-stranded DNA binding activity. Involved in megakaryocyte differentiation. Part of RNA polymerase II transcription regulator complex. Implicated in Ayme-Gripp syndrome; cataract; and cataract 21 multiple types.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Avian musculoaponeurotic fibrosarcoma (MAF) protooncogene; AYGRP; c-MAF; c-maf proto-oncogene; CCA4; CTRCT21; LOC105371352; MGC71685; proto-oncogene c-Maf; T lymphocyte c-maf long form; transcription factor Maf; uncharacterized LOC105371352; v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Pig
Green Monkey
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
GRCh381679,202,622 - 79,600,737 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1679,585,843 - 79,600,737 (-)EnsemblGRCh38hg38GRCh38
GRCh371679,627,735 - 79,634,634 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361678,185,732 - 78,192,112 (-)NCBINCBI36Build 36hg18NCBI36
Build 341678,185,735 - 78,192,112NCBI
Celera1663,926,698 - 63,933,512 (-)NCBICelera
Cytogenetic Map16q23.2NCBI
HuRef1665,384,643 - 65,391,409 (-)NCBIHuRef
CHM1_11681,039,513 - 81,046,247 (-)NCBICHM1_1
T2T-CHM13v2.01685,268,951 - 85,657,071 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
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Original Reference(s)
MAFHumancataract  IAGP 1547889DNA:missense mutation: :p.R288P (human)RGD 
MAFHumancataract  ISOMaf (Mus musculus)13204737DNA:missense mutation: :p.D90V (mouse)RGD 
MAFHumancataract  IAGP 13204738DNA:missense mutation:exon:p.Q303P (c.908A>C) (human)RGD 
MAFHumanCataract Microcornea Syndrome  IAGP 13204740DNA:missense mutations: :p.R299S (c.895C>A), p.K320E (c.958A>G) (human)RGD 
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Original Reference(s)
MAFHumanautosomal recessive spinocerebellar ataxia 12  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12ClinVarPMID:24369382 and PMID:32214227
MAFHumanautosomal recessive spinocerebellar ataxia 12  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12ClinVarPMID:25741868 more ...
MAFHumanautosomal recessive spinocerebellar ataxia 12  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12ClinVarPMID:25741868 more ...
MAFHumanautosomal recessive spinocerebellar ataxia 12  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12ClinVarPMID:28492532
MAFHumanautosomal recessive spinocerebellar ataxia 12  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12ClinVarPMID:25741868 and PMID:28492532
MAFHumanautosomal recessive spinocerebellar ataxia 12  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12ClinVarPMID:27959697 and PMID:28492532
MAFHumanautosomal recessive spinocerebellar ataxia 12  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12ClinVarPMID:25741868 and PMID:26467025
MAFHumanautosomal recessive spinocerebellar ataxia 12  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12ClinVarPMID:25741868
MAFHumanautosomal recessive spinocerebellar ataxia 12  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 12ClinVarPMID:28492532 and PMID:29358611
MAFHumanAyme-Gripp syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: MAF-related conditionClinVarPMID:25865493 and PMID:8867660
MAFHumanAyme-Gripp syndrome  IAGP (Homo sapiens) more ...8554872ClinVar more ...ClinVar 
MAFHumanAyme-Gripp syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: MAF-related conditionClinVarPMID:25741868 and PMID:28492532
MAFHumanAyme-Gripp syndrome  IAGP (Homo sapiens) more ...8554872ClinVar Annotator: match by term: Ayme-Gripp syndromeClinVarPMID:25741868
MAFHumanAyme-Gripp syndrome  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: MAF-related conditionClinVarPMID:28492532
MAFHumanAyme-Gripp syndrome  IAGP (Homo sapiens) and (Homo sapiens)8554872ClinVar Annotator: match by term: Ayme-Gripp syndromeClinVarPMID:25865493 and PMID:8834052
MAFHumanAyme-Gripp syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ayme-Gripp syndromeClinVarPMID:25741868 more ...
MAFHumanAyme-Gripp syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ayme-Gripp syndromeClinVarPMID:25064449 more ...
MAFHumanAyme-Gripp syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ayme-Gripp syndromeClinVarPMID:12072800 more ...
MAFHumanAyme-Gripp syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ayme-Gripp syndromeClinVarPMID:25865493
MAFHumanAyme-Gripp syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Ayme-Gripp syndromeClinVarPMID:17935251 and PMID:25865493
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Original Reference(s)
MAFHumanAyme-Gripp syndrome  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
MAFHumancataract 21 multiple types  EXP 11554173CTD Direct Evidence: marker/mechanismCTD 
MAFHumanColorectal Neoplasms  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:30510241
MAFHumanintrahepatic cholestasis  EXP 11554173CTD Direct Evidence: marker/mechanismCTDPMID:20146260
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Original Reference(s)
MAFHumancataract 21 multiple types  ISSMaf (Mus musculus)13592920OMIM:610202MouseDO 
MAFHumanmultiple myeloma  ISSMaf (Mus musculus)13592920OMIM:254500MouseDO 
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Original Reference(s)
MAFHumanAyme-Gripp syndrome  IAGP 7240710 OMIM 
MAFHumancataract 21 multiple types  IAGP 7240710 OMIM 

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Original Reference(s)
MAFHuman1,2-dimethylhydrazine decreases expressionISOMaf (Mus musculus)64804641 and 2-Dimethylhydrazine results in decreased expression of MAF mRNACTDPMID:22206623
MAFHuman17beta-estradiol decreases expressionISOMaf (Rattus norvegicus)6480464Estradiol results in decreased expression of MAF mRNACTDPMID:20068009
MAFHuman17beta-estradiol decreases expressionISOMaf (Mus musculus)6480464Estradiol results in decreased expression of MAF mRNACTDPMID:39298647
MAFHuman17beta-estradiol multiple interactionsISOMaf (Rattus norvegicus)6480464[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of MAF mRNACTDPMID:32741896
MAFHuman17beta-estradiol increases expressionISOMaf (Mus musculus)6480464Estradiol results in increased expression of MAF mRNACTDPMID:19484750
MAFHuman17beta-estradiol multiple interactionsEXP 6480464[Estradiol co-treated with Progesterone] results in increased expression of MAF mRNA and [Estradiol co-treated with TGFB1 protein] results in increased expression of MAF mRNACTDPMID:20660070 and PMID:30165855
MAFHuman17beta-estradiol 3-benzoate multiple interactionsISOMaf (Rattus norvegicus)6480464[estradiol 3-benzoate co-treated with [Testosterone co-treated with Estradiol]] results in increased expression of MAF mRNACTDPMID:32741896
MAFHuman17beta-hydroxy-17-methylestra-4,9,11-trien-3-one multiple interactionsEXP 6480464Dapsone analog inhibits the reaction [Metribolone results in increased expression of MAF mRNA]CTDPMID:21440447
MAFHuman17beta-hydroxy-17-methylestra-4,9,11-trien-3-one increases expressionEXP 6480464Metribolone results in increased expression of MAF mRNACTDPMID:16751804 more ...
MAFHuman17beta-hydroxy-5alpha-androstan-3-one increases expressionEXP 6480464Dihydrotestosterone results in increased expression of MAF mRNACTDPMID:29581250
MAFHuman2,2',4,4'-Tetrabromodiphenyl ether decreases expressionISOMaf (Rattus norvegicus)64804642 more ...CTDPMID:27291303
MAFHuman2,3,7,8-tetrachlorodibenzodioxine increases expressionISOMaf (Mus musculus)6480464Tetrachlorodibenzodioxin results in increased expression of MAF mRNACTDPMID:24058054 more ...
MAFHuman2,3,7,8-tetrachlorodibenzodioxine increases expressionISOMaf (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in increased expression of MAF mRNACTDPMID:34747641
MAFHuman2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISOMaf (Mus musculus)6480464Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to MAF gene]CTDPMID:28213091
MAFHuman2,3,7,8-tetrachlorodibenzodioxine affects expressionISOMaf (Mus musculus)6480464Tetrachlorodibenzodioxin affects the expression of MAF mRNACTDPMID:21570461
MAFHuman2,3,7,8-tetrachlorodibenzodioxine increases expressionEXP 6480464Tetrachlorodibenzodioxin results in increased expression of MAF mRNACTDPMID:21632981
MAFHuman2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOMaf (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in decreased expression of MAF mRNACTDPMID:21215274 and PMID:33387578
MAFHuman2,3,7,8-tetrachlorodibenzodioxine affects expressionISOMaf (Rattus norvegicus)6480464Tetrachlorodibenzodioxin affects the expression of MAF mRNACTDPMID:22298810
MAFHuman2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOMaf (Mus musculus)6480464Tetrachlorodibenzodioxin results in decreased expression of MAF mRNACTDPMID:19465110 and PMID:19770486
MAFHuman2,4,6-trinitrobenzenesulfonic acid multiple interactionsISOMaf (Mus musculus)6480464sinomenine inhibits the reaction [Trinitrobenzenesulfonic Acid results in increased expression of MAF mRNA] and sinomenine inhibits the reaction [Trinitrobenzenesulfonic Acid results in increased expression of MAF protein]CTDPMID:24066068

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Biological Process
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Original Reference(s)
MAFHumancell development acts_upstream_of_or_withinIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumangene expression acts_upstream_of_or_withinIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumanin utero embryonic development acts_upstream_of_or_withinIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumaninner ear development acts_upstream_of_or_withinIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumanintegrated stress response signaling involved_inNAS 150520179 PMID:28566324ComplexPortalPMID:28566324
MAFHumanlens development in camera-type eye acts_upstream_of_or_withinIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumanlens fiber cell differentiation acts_upstream_of_or_withinIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumanlens fiber cell differentiation involved_inIBAMGI:96909 and PANTHER:PTN000014690150520179 GO_CentralGO_REF:0000033
MAFHumanmegakaryocyte differentiation involved_inIMP 150520179 PMID:25857263BHF-UCLPMID:25857263
MAFHumannegative regulation of transcription by RNA polymerase II involved_inNAS 150520179 PMID:27052415 and PMID:33897412ComplexPortalPMID:27052415 and PMID:33897412
MAFHumannegative regulation of transcription by RNA polymerase II acts_upstream_of_or_withinIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumanpositive regulation of gene expression acts_upstream_of_or_withinIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumanpositive regulation of transcription by RNA polymerase II  ISOMaf (Rattus norvegicus)9068941 RGDPMID:9571165 and REF_RGD_ID:1547884
MAFHumanpositive regulation of transcription by RNA polymerase II acts_upstream_of_or_withinIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumanregulation of chondrocyte differentiation acts_upstream_of_or_withinIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumanregulation of DNA-templated transcription involved_inIEAInterPro:IPR004826 more ...150520179 InterProGO_REF:0000002
MAFHumanregulation of DNA-templated transcription acts_upstream_of_or_withinIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumanregulation of transcription by RNA polymerase II involved_inIBAFB:FBgn0000964 more ...150520179 GO_CentralGO_REF:0000033
MAFHumanregulation of transcription by RNA polymerase II involved_inNAS 150520179 PMID:23661758ComplexPortalPMID:23661758
MAFHumanresponse to nutrient acts_upstream_of_or_withinIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
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Cellular Component
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Original Reference(s)
MAFHumanchromatin located_inTAS 150520179 PMID:9616139PINCPMID:9616139
MAFHumanchromatin located_inISAtfclass:1.1.3150520179 NTNU_SBGO_REF:0000113
MAFHumancytoplasm located_inIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumannucleus located_inIEAUniProtKB-KW:KW-0539150520179 UniProtGO_REF:0000043
MAFHumannucleus located_inNAS 150520179 PMID:23661758ComplexPortalPMID:23661758
MAFHumannucleus located_inIEAUniProtKB-SubCell:SL-0191150520179 UniProtGO_REF:0000044
MAFHumannucleus located_inIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumannucleus is_active_inIBAFB:FBgn0000964 more ...150520179 GO_CentralGO_REF:0000033
MAFHumanRNA polymerase II transcription regulator complex part_ofISSComplexPortal:CPX-2485150520179 ComplexPortalGO_REF:0000114
MAFHumanRNA polymerase II transcription regulator complex part_ofIPI 150520179 PMID:20102225 and PMID:23661758ComplexPortalPMID:20102225 and PMID:23661758
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Molecular Function
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MAFHumanDNA binding enablesIEAInterPro:IPR004826 and InterPro:IPR008917150520179 InterProGO_REF:0000002
MAFHumanDNA binding enablesIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumanDNA binding enablesIEAUniProtKB-KW:KW-0238150520179 UniProtGO_REF:0000043
MAFHumanDNA-binding transcription activator activity, RNA polymerase II-specific enablesIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumanDNA-binding transcription factor activity enablesIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumanDNA-binding transcription factor activity enablesIEAInterPro:IPR004827 more ...150520179 InterProGO_REF:0000002
MAFHumanDNA-binding transcription factor activity, RNA polymerase II-specific  ISOMaf (Rattus norvegicus)9068941 RGDPMID:9571165 and REF_RGD_ID:1547884
MAFHumanDNA-binding transcription factor activity, RNA polymerase II-specific enablesISAtfclass:1.1.3150520179 NTNU_SBGO_REF:0000113
MAFHumanDNA-binding transcription factor activity, RNA polymerase II-specific enablesIBAMGI:104555 more ...150520179 GO_CentralGO_REF:0000033
MAFHumandouble-stranded DNA binding  ISOMaf (Rattus norvegicus)9068941 RGDPMID:9571165 and REF_RGD_ID:1547884
MAFHumanidentical protein binding  ISOMaf (Rattus norvegicus)9068941homodimerizationRGDPMID:9571165 and REF_RGD_ID:1547884
MAFHumanidentical protein binding enablesIPIUniProtKB:O75444150520179 PMID:20102225 and PMID:23661758IntActPMID:20102225 and PMID:23661758
MAFHumanprotein binding enablesIPIUniProtKB:O14867 more ...150520179 PMID:20102225IntActPMID:20102225
MAFHumanprotein binding enablesIPIUniProtKB:P18848 and UniProtKB:Q9Y5Q3150520179 PMID:23661758IntActPMID:23661758
MAFHumanprotein-containing complex binding  ISOMaf (Rattus norvegicus)9068941heterodimerizationRGDPMID:9571165 and REF_RGD_ID:1547884
MAFHumanRNA polymerase II cis-regulatory region sequence-specific DNA binding enablesIBAMGI:104555 more ...150520179 GO_CentralGO_REF:0000033
MAFHumansequence-specific DNA binding enablesIEAUniProtKB:P54843 and ensembl:ENSMUSP00000067704150520179 EnsemblGO_REF:0000107
MAFHumansequence-specific double-stranded DNA binding enablesIDA 150520179 PMID:28473536ARUK-UCLPMID:28473536
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MAFHumanAbnormal cardiovascular system morphology  IAGP 8699517 HPOORPHA:1272
MAFHumanAbnormal thorax morphology  IAGP 8699517 HPOORPHA:1272
MAFHumanAbnormality of the dentition  IAGP 8699517 HPOMIM:601088 and PMID:30160832
MAFHumanAsymmetric crying face  IAGP 8699517 HPOORPHA:1272
MAFHumanAutosomal dominant inheritance  IAGP 8699517 HPOMIM:610202 and PMID:11772997
MAFHumanAutosomal dominant inheritance  IAGP 8699517 HPOMIM:601088 and PMID:30160832
MAFHumanBilateral ptosis  IAGP 8699517 HPOORPHA:1272
MAFHumanBrachycephaly  IAGP 8699517 HPOORPHA:1272
MAFHumanBrachycephaly  IAGP 8699517 HPOMIM:601088
MAFHumanBrachydactyly  IAGP 8699517 HPOMIM:601088 and PMID:30160832
MAFHumanBreast hypoplasia  IAGP 8699517 HPOORPHA:1272
MAFHumanBroad eyebrow  IAGP 8699517 HPOMIM:601088 and PMID:30160832
MAFHumanBroad philtrum  IAGP 8699517 HPOMIM:601088
MAFHumanCamptodactyly  IAGP 8699517 HPOORPHA:1272
MAFHumanCamptodactyly  IAGP 8699517 HPOMIM:601088 and PMID:30160832
MAFHumanCataract  IAGP 8699517 HPOORPHA:1272
MAFHumanCataract  IAGP 8699517 HPOORPHA:1377
MAFHumanCerebral atrophy  IAGP 8699517 HPOMIM:601088
MAFHumanCerebral cortical atrophy  IAGP 8699517 HPOORPHA:1272
MAFHumanCerulean cataract  IAGP 8699517 HPOMIM:610202
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MAFHumanDevelopmental cataract  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital cataractClinVarPMID:26694549
MAFHumanDevelopmental cataract  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital cataractClinVarPMID:26694549
MAFHumanDevelopmental cataract  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital cataractClinVarPMID:25741868
MAFHumanDevelopmental cataract  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Congenital cataractClinVarPMID:26694549
MAFHumanGlobal developmental delay  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Global developmental delayClinVarPMID:25741868 and PMID:28492532
MAFHumanIntellectual disability  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Intellectual disabilityClinVarPMID:25741868 and PMID:28492532
MAFHumanNeurodevelopmental delay  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Neurodevelopmental delayClinVarPMID:25741868
MAFHumanSchizophrenia  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: SchizophreniaClinVarPMID:21681106 and PMID:30208311

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Reference Title
Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Hansen L, etal., Invest Ophthalmol Vis Sci. 2009 Jul;50(7):3291-303. doi: 10.1167/iovs.08-3149. Epub 2009 Jan 31.
3. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Jamieson RV, etal., Hum Mol Genet 2002 Jan 1;11(1):33-42.
4. Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature. Narumi Y, etal., Am J Med Genet A. 2014 May;164A(5):1272-6. doi: 10.1002/ajmg.a.36433. Epub 2014 Mar 24.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. A heterozygous c-Maf transactivation domain mutation causes congenital cataract and enhances target gene activation. Perveen R, etal., Hum Mol Genet. 2007 May 1;16(9):1030-8. Epub 2007 Mar 20.
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
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PMID:8108109   PMID:9070273   PMID:9566892   PMID:9616139   PMID:11036080   PMID:11295643   PMID:11943779   PMID:12011435   PMID:12149651   PMID:12193719   PMID:12381733   PMID:12477932  
PMID:12835653   PMID:12939343   PMID:14688382   PMID:14692531   PMID:14702039   PMID:14998484   PMID:14998494   PMID:15749884   PMID:16424013   PMID:16470690   PMID:16498264   PMID:16675956  
PMID:17044113   PMID:17082780   PMID:17287852   PMID:17490615   PMID:17823980   PMID:17875642   PMID:17897790   PMID:17901057   PMID:17982426   PMID:18059226   PMID:18585411   PMID:18616618  
PMID:19151714   PMID:19215682   PMID:19274049   PMID:19336002   PMID:19553542   PMID:19687312   PMID:19844255   PMID:19851340   PMID:19883431   PMID:20067416   PMID:20080955   PMID:20102225  
PMID:20127678   PMID:20571754   PMID:20668459   PMID:20676092   PMID:20712903   PMID:21163924   PMID:21209279   PMID:21216956   PMID:21362551   PMID:21565293   PMID:21767287   PMID:21833088  
PMID:21873635   PMID:21876034   PMID:22345400   PMID:22427637   PMID:22494929   PMID:22797727   PMID:22875803   PMID:23229156   PMID:23263486   PMID:23408906   PMID:23512105   PMID:23661758  
PMID:23840443   PMID:24509877   PMID:24852370   PMID:24982420   PMID:25064449   PMID:25448412   PMID:25857263   PMID:25865493   PMID:26078718   PMID:26376684   PMID:26496036   PMID:26694163  
PMID:26719333   PMID:26969892   PMID:27052415   PMID:27097296   PMID:27793878   PMID:28235765   PMID:28300844   PMID:28473536   PMID:28566324   PMID:28611215   PMID:28673317   PMID:28745329  
PMID:28813657   PMID:28849415   PMID:28933784   PMID:29080939   PMID:29180619   PMID:29467225   PMID:30201991   PMID:30659945   PMID:31197245   PMID:31218784   PMID:31536480   PMID:31564713  
PMID:31600839   PMID:31822558   PMID:32027476   PMID:32842143   PMID:33309247   PMID:33312178   PMID:33528093   PMID:33627137   PMID:33833231   PMID:33897412   PMID:34280251   PMID:34356658  
1 to 10 of 11 rows



MAF
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381679,202,622 - 79,600,737 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1679,585,843 - 79,600,737 (-)EnsemblGRCh38hg38GRCh38
GRCh371679,627,735 - 79,634,634 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361678,185,732 - 78,192,112 (-)NCBINCBI36Build 36hg18NCBI36
Build 341678,185,735 - 78,192,112NCBI
Celera1663,926,698 - 63,933,512 (-)NCBICelera
Cytogenetic Map16q23.2NCBI
HuRef1665,384,643 - 65,391,409 (-)NCBIHuRef
CHM1_11681,039,513 - 81,046,247 (-)NCBICHM1_1
T2T-CHM13v2.01685,268,951 - 85,657,071 (-)NCBIT2T-CHM13v2.0
Maf
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398116,429,992 - 116,433,633 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8116,409,681 - 116,434,533 (-)EnsemblGRCm39 Ensembl
GRCm388115,703,253 - 115,706,894 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8115,682,942 - 115,707,794 (-)EnsemblGRCm38mm10GRCm38
MGSCv378118,227,153 - 118,230,794 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368118,589,230 - 118,592,871 (-)NCBIMGSCv36mm8
Celera8119,915,403 - 119,918,981 (-)NCBICelera
Cytogenetic Map8E1NCBI
cM Map862.61NCBI
Maf
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81960,259,200 - 60,622,145 (-)NCBIGRCr8
mRatBN7.21943,353,867 - 43,713,162 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1943,360,342 - 43,712,365 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1950,534,463 - 50,536,407 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01951,187,718 - 51,189,656 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01953,428,393 - 53,430,309 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01948,179,826 - 48,200,995 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1948,194,804 - 48,196,748 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01958,976,694 - 58,999,741 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41945,859,510 - 45,861,454 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11945,864,390 - 45,866,335 (-)NCBI
Celera1943,012,985 - 43,014,923 (-)NCBICelera
Cytogenetic Map19q12NCBI
Maf
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555222,514,313 - 2,519,694 (-)NCBIChiLan1.0ChiLan1.0
MAF
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21889,333,211 - 89,339,592 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11695,251,476 - 95,257,980 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01660,188,494 - 60,194,871 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11679,618,156 - 79,624,460 (-)NCBIpanpan1.1PanPan1.1panPan2
MAF
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1571,965,291 - 71,982,903 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl571,965,500 - 71,981,735 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha571,912,571 - 71,918,461 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0572,271,569 - 72,277,450 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl572,271,341 - 72,302,366 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1572,211,442 - 72,217,331 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0572,047,056 - 72,052,965 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0572,524,417 - 72,530,335 (+)NCBIUU_Cfam_GSD_1.0
MAF
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl68,468,782 - 8,485,030 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.168,468,736 - 8,910,012 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.268,568,594 - 8,571,175 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MAF
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1565,064,715 - 65,078,972 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366604710,795,871 - 10,802,372 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Maf
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247467,653,690 - 7,672,404 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in MAF
383 total Variants

1 to 10 of 458 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
NM_005360.5(MAF):c.768C>G (p.His256Gln) single nucleotide variant Cataract 21 multiple types [RCV000555075] Chr16:79599135 [GRCh38]
Chr16:79633032 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_005360.5(MAF):c.611G>T (p.Gly204Val) single nucleotide variant Cataract 21 multiple types [RCV000556258]|Inborn genetic diseases [RCV002526706]|not provided [RCV001692191] Chr16:79599292 [GRCh38]
Chr16:79633189 [GRCh37]
Chr16:16q23.2		 benign
NM_016373.4(WWOX):c.1238C>G (p.Ser413Cys) single nucleotide variant Developmental and epileptic encephalopathy, 1 [RCV000530623]|not provided [RCV005241376] Chr16:79211789 [GRCh38]
Chr16:79245686 [GRCh37]
Chr16:16q23.2		 uncertain significance
NM_005360.5(MAF):c.696_710del (p.Gly234_Gly238del) deletion Cataract 21 multiple types [RCV000525623]|Inborn genetic diseases [RCV002525313]|not provided [RCV003424143] Chr16:79599193..79599207 [GRCh38]
Chr16:79633090..79633104 [GRCh37]
Chr16:16q23.2		 likely benign|uncertain significance
NM_016373.4(WWOX):c.1188C>A (p.Thr396=) single nucleotide variant Developmental and epileptic encephalopathy, 1 [RCV000542127] Chr16:79211739 [GRCh38]
Chr16:79245636 [GRCh37]
Chr16:16q23.2		 likely benign
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter) single nucleotide variant Developmental and epileptic encephalopathy, 1 [RCV000703935]|See cases [RCV002252153]|not provided [RCV000519379] Chr16:79211665 [GRCh38]
Chr16:79245562 [GRCh37]
Chr16:16q23.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005360.5(MAF):c.905C>T (p.Ala302Val) single nucleotide variant Cataract 21 multiple types [RCV000533204]|Cataract 21 multiple types [RCV003486884] Chr16:79598998 [GRCh38]
Chr16:79632895 [GRCh37]
Chr16:16q23.2		 likely pathogenic|uncertain significance
GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 copy number gain See cases [RCV000050840] Chr16:78816291..90081985 [GRCh38]
Chr16:78850188..90148393 [GRCh37]
Chr16:77407689..88675894 [NCBI36]
Chr16:16q23.1-24.3		 pathogenic
GRCh38/hg38 16q23.2(chr16:79455147-81109328)x1 copy number loss See cases [RCV000050712] Chr16:79455147..81109328 [GRCh38]
Chr16:79489044..81142933 [GRCh37]
Chr16:78046545..79700434 [NCBI36]
Chr16:16q23.2		 pathogenic
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 copy number gain See cases [RCV000052422] Chr16:70514631..90081985 [GRCh38]
Chr16:70548534..90148393 [GRCh37]
Chr16:69106035..88675894 [NCBI36]
Chr16:16q22.1-24.3		 pathogenic
1 to 10 of 458 rows

Predicted Target Of
Summary Value
Count of predictions:2647
Count of miRNA genes:1052
Interacting mature miRNAs:1324
Transcripts:ENST00000326043, ENST00000393350, ENST00000569649
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.


1 to 10 of 65 rows
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597069329GWAS1165403_Hsusceptibility to chronic sinus infection measurement QTL GWAS1165403 (human)0.000005response to infection trait (VT:0010434)167923353279233533Human
597378963GWAS1475037_Hlysophosphatidylcholine 20:3 measurement QTL GWAS1475037 (human)0.000003glycerophosphocholine amount (VT:0011004)167955048679550487Human
597365905GWAS1461979_Hbalding measurement QTL GWAS1461979 (human)5e-11hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)167959233979592340Human
597017886GWAS1113960_Hmultiple sclerosis QTL GWAS1113960 (human)6e-14multiple sclerosis167931630779316308Human
597054361GWAS1150435_Hmultiple sclerosis QTL GWAS1150435 (human)0.0000002multiple sclerosis167925260679252607Human
597205271GWAS1301345_Hneuroimaging measurement QTL GWAS1301345 (human)2e-10neuroimaging measurement167957493479574935Human
597155079GWAS1251153_Hdiet measurement, testosterone measurement QTL GWAS1251153 (human)0.000002eating behavior trait (VT:0001431)serum testosterone level (CMO:0000568)167934125479341255Human
597067143GWAS1163217_Hsusceptibility to Mycobacterium tuberculosis infection measurement QTL GWAS1163217 (human)0.000009response to bacterial infection trait (VT:0010435)167937129779371298Human
596966151GWAS1085670_HAlzheimer disease QTL GWAS1085670 (human)0.0000002Alzheimer disease167957451179574512Human
597320066GWAS1416140_Halcohol dependence QTL GWAS1416140 (human)0.000005alcohol dependence167924640179246402Human

1 to 10 of 65 rows
RH47061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371679,630,447 - 79,630,611UniSTSGRCh37
Build 361678,187,948 - 78,188,112RGDNCBI36
Celera1663,929,399 - 63,929,563RGD
Cytogenetic Map16q22-q23UniSTS
HuRef1665,387,345 - 65,387,509UniSTS
GeneMap99-GB4 RH Map16464.19UniSTS
NCBI RH Map16595.9UniSTS
RH41999  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371679,629,871 - 79,629,978UniSTSGRCh37
Build 361678,187,372 - 78,187,479RGDNCBI36
Celera1663,928,823 - 63,928,930RGD
Cytogenetic Map16q22-q23UniSTS
HuRef1665,386,769 - 65,386,876UniSTS
GeneMap99-GB4 RH Map16460.33UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2378 2788 2232 4953 1719 2282 4 623 1474 463 2268 6801 6008 44 3710 1 843 1691 1551 174 1


1 to 29 of 29 rows
RefSeq Transcripts NG_016440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001031804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017023235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054380324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC084064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC092376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF447709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF540388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC038438 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC081542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE644986 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF726289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 29 of 29 rows

Ensembl Acc Id: ENST00000326043   ⟹   ENSP00000327048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1679,593,838 - 79,600,737 (-)Ensembl
Ensembl Acc Id: ENST00000393350   ⟹   ENSP00000377019
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1679,594,331 - 79,600,714 (-)Ensembl
Ensembl Acc Id: ENST00000569649   ⟹   ENSP00000455097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1679,585,843 - 79,599,902 (-)Ensembl
RefSeq Acc Id: NM_001031804   ⟹   NP_001026974
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381679,593,838 - 79,600,737 (-)NCBI
GRCh371679,627,745 - 79,634,622 (-)ENTREZGENE
Build 361678,185,732 - 78,192,112 (-)NCBI Archive
HuRef1665,384,643 - 65,391,409 (-)ENTREZGENE
CHM1_11681,039,513 - 81,046,247 (-)NCBI
T2T-CHM13v2.01685,650,174 - 85,657,071 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005360   ⟹   NP_005351
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381679,593,838 - 79,600,737 (-)NCBI
GRCh371679,627,745 - 79,634,622 (-)ENTREZGENE
Build 361678,185,732 - 78,192,112 (-)NCBI Archive
HuRef1665,384,643 - 65,391,409 (-)ENTREZGENE
CHM1_11681,039,513 - 81,046,247 (-)NCBI
T2T-CHM13v2.01685,650,174 - 85,657,071 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023233   ⟹   XP_016878722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381679,583,127 - 79,600,737 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023234   ⟹   XP_016878723
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381679,570,049 - 79,600,737 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017023235   ⟹   XP_016878724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381679,576,698 - 79,600,737 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450279   ⟹   XP_024306047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381679,202,622 - 79,600,737 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054380322   ⟹   XP_054236297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01685,268,951 - 85,657,071 (-)NCBI
RefSeq Acc Id: XM_054380323   ⟹   XP_054236298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01685,624,360 - 85,657,071 (-)NCBI
RefSeq Acc Id: XM_054380324   ⟹   XP_054236299
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01685,632,613 - 85,657,071 (-)NCBI
RefSeq Acc Id: XR_001751902
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381679,202,622 - 79,600,737 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002957802
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381679,202,622 - 79,600,737 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002957803
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381679,202,622 - 79,600,737 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002957804
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381679,202,622 - 79,600,737 (-)NCBI
Sequence:
1 to 5 of 12 rows
1 to 5 of 12 rows
RefSeq Acc Id: NP_005351   ⟸   NM_005360
- Peptide Label: isoform a
- UniProtKB: Q71A33 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001026974   ⟸   NM_001031804
- Peptide Label: isoform b
- UniProtKB: Q66I47 (UniProtKB/Swiss-Prot),   Q9UP93 (UniProtKB/Swiss-Prot),   O75444 (UniProtKB/Swiss-Prot),   Q71A33 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878723   ⟸   XM_017023234
- Peptide Label: isoform X1
- UniProtKB: H3BP11 (UniProtKB/TrEMBL),   Q71A33 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878724   ⟸   XM_017023235
- Peptide Label: isoform X1
- UniProtKB: H3BP11 (UniProtKB/TrEMBL),   Q71A33 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878722   ⟸   XM_017023233
- Peptide Label: isoform X1
- UniProtKB: H3BP11 (UniProtKB/TrEMBL),   Q71A33 (UniProtKB/TrEMBL)
- Sequence:
bZIP

Name Modeler Protein Id AA Range Protein Structure
AF-O75444-F1-model_v2 AlphaFold O75444 1-373 view protein structure

RGD ID:6793260
Promoter ID:HG_KWN:24315
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour
Transcripts:NM_001031804,   OTTHUMT00000269042
Position:
Human AssemblyChrPosition (strand)Source
Build 361678,190,291 - 78,192,942 (-)MPROMDB
RGD ID:7232917
Promoter ID:EPDNEW_H22204
Type:initiation region
Name:MAF_2
Description:MAF bZIP transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22205  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381679,600,020 - 79,600,080EPDNEW
RGD ID:7232921
Promoter ID:EPDNEW_H22205
Type:initiation region
Name:MAF_1
Description:MAF bZIP transcription factor
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22204  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381679,600,734 - 79,600,794EPDNEW


1 to 36 of 36 rows
Database
Acc Id
Source(s)
COSMIC MAF COSMIC
Ensembl Genes ENSG00000178573 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000326043 ENTREZGENE
  ENST00000326043.5 UniProtKB/Swiss-Prot
  ENST00000393350 ENTREZGENE
  ENST00000393350.1 UniProtKB/Swiss-Prot
  ENST00000569649 ENTREZGENE
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot
GTEx ENSG00000178573 GTEx
HGNC ID HGNC:6776 ENTREZGENE
Human Proteome Map MAF Human Proteome Map
InterPro bZIP UniProtKB/Swiss-Prot
  bZIP_Maf UniProtKB/Swiss-Prot
  bZIP_sf UniProtKB/Swiss-Prot
  Maf_TF_N UniProtKB/Swiss-Prot
  TF_DNA-bd_sf UniProtKB/Swiss-Prot
  Transciption_factor_Maf_fam UniProtKB/Swiss-Prot
KEGG Report hsa:4094 UniProtKB/Swiss-Prot
NCBI Gene 4094 ENTREZGENE
OMIM 177075 OMIM
PANTHER PTHR10129 UniProtKB/Swiss-Prot
  PTHR10129:SF9 UniProtKB/Swiss-Prot
Pfam bZIP_Maf UniProtKB/Swiss-Prot
  Maf_N UniProtKB/Swiss-Prot
PharmGKB PA30534 PharmGKB
PROSITE BZIP UniProtKB/Swiss-Prot
SMART BRLZ UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47454 UniProtKB/Swiss-Prot
  SSF57959 UniProtKB/Swiss-Prot
UniProt H3BP11 ENTREZGENE, UniProtKB/TrEMBL
  MAF_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q66I47 ENTREZGENE
  Q71A33 ENTREZGENE, UniProtKB/TrEMBL
  Q9UP93 ENTREZGENE
UniProt Secondary Q66I47 UniProtKB/Swiss-Prot
  Q9UP93 UniProtKB/Swiss-Prot
1 to 36 of 36 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2023-12-14 MAF  MAF bZIP transcription factor  LOC105371352  uncharacterized LOC105371352  Data Merged 737654 PROVISIONAL
2016-05-17 MAF  MAF bZIP transcription factor    v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog  Symbol and/or name change 5135510 APPROVED
2013-07-16 MAF  v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog    v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian)  Symbol and/or name change 5135510 APPROVED