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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MMS19 Gene

protein-coding GIFtS: 52
GCID: GC10M099209

MMS19 nucleotide excision repair homolog (S. cerevisiae)

(Previous symbol: MMS19L)

Explore 4 diseases affiliated with
MMS19 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
MMS19 Nucleotide Excision Repair Homolog (S. Cerevisiae)¹ ²		MMS19-Like Protein² ³
MMS19L¹ ² ³		Homolog Of Yeast MMS19²
HMMS19¹		MMS19 Nucleotide Excision Repair Protein Homolog²
MET18¹ ²		MMS19-Like (MET18 Homolog, S. Cerevisiae)²
MET18 Homolog² ³

External Ids:	HGNC: 13824¹	Entrez Gene: 64210²	Ensembl: ENSG00000155229⁷	OMIM: 614777⁵	UniProtKB: Q96T76³

Export aliases for MMS19 gene to outside databases

Previous GC identifer: GC10M092843

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: MMS19_HUMAN, Q96T76

Function: Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that

mediates the incorporation of iron-sulfur cluster into apoproteins specifically involved in DNA metabolism and genomic

integrity. In the CIA complex, MMS19 acts as an adapter between early-acting CIA components and a subset of cellular

target iron-sulfur proteins such as ERCC2/XPD, FANCJ and RTEL1, thereby playing a key role in nucleotide excision

repair (NER) and RNA polymerase II (POL II) transcription. As part of the mitotic spindle-associated MMXD complex,

plays a role in chromosome segregation, probably by facilitating iron-sulfur cluster assembly into ERCC2/XPD.

Indirectly acts as a transcriptional coactivator of estrogen receptor (ER), via its role in iron-sulfur insertion into

some component of the TFIIH-machinery

Gene Wiki entry for MMS19

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for MMS19
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: MMS19 promoter sequence

Search SABiosciences Chromatin IP Primers for MMS19

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MMS19

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q24-q25 Ensembl cytogenetic band: 10q24.1 HGNC cytogenetic band: 10q24-q25

MMS19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MMS19 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10M099209: view genomic region (about GC identifiers)

Start:	99,218,081 bp from pter	End:	99,258,551 bp from pter
Size:	40,471 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MMS19_HUMAN, Q96T76 (See protein sequence)

Recommended Name: MMS19 nucleotide excision repair protein homolog

Size: 1030 amino acids; 113290 Da

Subunit: Component of the CIA complex. Component of the MMXD complex, composed of CIAO1, ERCC2, FAM96B, MMS19 and

SLC25A5. Interacts with FAM96B; the interaction is direct. Interacts with ERCC2/XPD; the interaction is direct.

Interacts with ERCC3/XPB and NCOA3/RAC3

Subcellular location: Nucleus. Cytoplasm, cytoskeleton, spindle

Sequence caution: Sequence=AAH80532.1; Type=Erroneous translation; Note=Wrong choice of CDS; Sequence=BAB55315.1;

Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB71223.1; Type=Erroneous translation;

Note=Wrong choice of CDS; Sequence=BAG51657.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=CAC29239.1; Type=Frameshift; Positions=373, 412;

Secondary accessions: B0QZ75 B3KPE5 B4DQX2 B4E2I3 D3DR55 F8W9Y2 Q17RZ8 Q5T455 Q66K82 Q7L4W8 Q969Z1

Q96DF1 Q96MR1 Q96RK5 Q96SK1 Q9BUE2 Q9BYS9

Alternative splicing: 6 isoforms: Q96T76-1 Q96T76-7 Q96T76-6 Q96T76-5 Q96T76-8 Q96T76-9 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MMS19: NX_Q96T76

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96T76

MMS19 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_071757.4

ENSEMBL proteins:

ENSP00000412698 ENSP00000359818 ENSP00000395045 ENSP00000415326 ENSP00000410008

ENSP00000320059 ENSP00000402819 ENSP00000409425 ENSP00000413801 ENSP00000391765

ENSP00000393929 ENSP00000400028 ENSP00000348097 ENSP00000322236

Reactome Protein details: Q96T76
Human Recombinant Protein Products:

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	Novus Biologicals MMS19 Protein Novus Biologicals MMS19 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MMS19

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	TAS	11071939
GO:0005675	holo TFIIH complex	NAS	11279242
GO:0005737	cytoplasm	IDA	--
GO:0005819	spindle	IDA	--
GO:0071817	MMXD complex	IDA	--

MMS19 for ontologies About GeneDecksing

MMS19 Antibody Products:

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	Search ThermoFisher Antibodies for MMS19

Assay Products for MMS19:

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	Uscn ELISAs and CLIAs for MMS19

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MMS19 for domains About GeneDecksing

3 InterPro domains/families:

IPR011989 ARM-like

IPR024687 Tscrpt_MMS19_N

IPR016024 ARM-type_fold

Graphical View of Domain Structure for InterPro Entry Q96T76

ProtoNet protein and cluster: Q96T76

1 Blocks protein family: IPB000357 HEAT repeat

UniProtKB/Swiss-Prot: MMS19_HUMAN, Q96T76

Similarity: Belongs to the MET18/MMS19 family

Similarity: Contains 7 HEAT repeats

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MMS19_HUMAN, Q96T76

Function: Key component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that

mediates the incorporation of iron-sulfur cluster into apoproteins specifically involved in DNA metabolism and genomic

integrity. In the CIA complex, MMS19 acts as an adapter between early-acting CIA components and a subset of cellular

target iron-sulfur proteins such as ERCC2/XPD, FANCJ and RTEL1, thereby playing a key role in nucleotide excision

repair (NER) and RNA polymerase II (POL II) transcription. As part of the mitotic spindle-associated MMXD complex,

plays a role in chromosome segregation, probably by facilitating iron-sulfur cluster assembly into ERCC2/XPD.

Indirectly acts as a transcriptional coactivator of estrogen receptor (ER), via its role in iron-sulfur insertion into

some component of the TFIIH-machinery

miRNA Products:		miRTarBase miRNAs that target MMS19: hsa-mir-16 (MIRT005262)

		OriGene 3'-UTR Clone: MMS19 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MMS19
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate MMS19:
		hsa-miR-376a* hsa-miR-219-5p hsa-miR-3918 hsa-miR-342-3p hsa-miR-3153
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Gene Editing
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		GenScript: all cDNA clones in your preferred vector: MMS19 (NM_022362)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for MMS19
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMS19

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003713	transcription coactivator activity	IMP	11279242
GO:0005515	protein binding	IPI	--
GO:0030159	receptor signaling complex scaffold activity	NAS	11279242
GO:0030331	estrogen receptor binding	IPI	11279242
GO:0030674	protein binding, bridging	NAS	11279242

MMS19 for ontologies About GeneDecksing

4 GenomeRNAi human phenotypes for MMS19:

Decreased Salmonella enterica

Decreased viability with pacli

Increased Salmonella enterica

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cytosolic Iron-sulfur Cluster Assembly

Cytosolic Iron-sulfur Cluster Assembly

1.00

CIA Targeting Complex Transfers 4Fe-4S Cluster to Apoproteins

0.77

Metabolism

Metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

3 Reactome Pathways for MMS19

	Cytosolic Iron-sulfur Cluster Assembly
	Metabolism
	CIA Targeting Complex Transfers 4Fe-4S Cluster to Apoproteins

MMS19 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MMS19

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/219 Interacting proteins for MMS19 (Q96T76³ ENSP00000359818⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 219)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³	I2D: score=1
HIST1H4B	P62805³	I2D: score=1
HIST1H4C	P62805³	I2D: score=1
HIST1H4D	P62805³	I2D: score=1
HIST1H4E	P62805³	I2D: score=1

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000160	phosphorelay signal transduction system	NAS	11279242
GO:0006259	DNA metabolic process	IMP	--
GO:0006281	DNA repair	IMP	--
GO:0006289	nucleotide-excision repair	TAS	11071939
GO:0006351	transcription, DNA-dependent	NAS	11071939

MMS19 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MMS19
Search CenterWatch for drugs/clinical trials and news about MMS19

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MMS19 gene:

NM_022362.4

Unigene Cluster for MMS19:

MMS19 nucleotide excision repair homolog (S. cerevisiae)

Hs.500721 [show with all ESTs]

Unigene Representative Sequence: NM_022362

18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):

ENST00000438925(uc001kns.4 uc010qox.2) ENST00000370782(uc009xvs.3 uc009xvt.3 uc001knr.3 uc001knt.3)

ENST00000415383 ENST00000444411 ENST00000434538 ENST00000495415(uc001knq.3)

ENST00000485400 ENST00000327238 ENST00000480108 ENST00000478452 ENST00000434392

ENST00000480280 ENST00000437002 ENST00000441194 ENST00000483626 ENST00000422685

ENST00000448660 ENST00000439048

miRNA Products:		OriGene 3'-UTR Clone: MMS19 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MMS19
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate MMS19:
		hsa-miR-376a* hsa-miR-219-5p hsa-miR-3918 hsa-miR-342-3p hsa-miR-3153
		SwitchGear 3'UTR luciferase reporter plasmid: MMS19 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MMS19 OriGene shRNA RFP: MMS19 OriGene siRNA: MMS19
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MMS19

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MMS19 (see all 2) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MMS19 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MMS19
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MMS19

Additional cDNA sequence:

AF007151.1 AF319947.1 AF357881.1 AJ306408.1 AK025496.1 AK027710.1 AK056244.1 AK225312.1

AK298995.1 AK304287.1 AK314374.1 BC002692.1 BC006575.2 BC009396.2 BC033101.1 BC080532.1

BC117129.1 BC143285.1

24/48 DOTS entries (see all 48):

DT.444596 DT.86860011 DT.92446167 DT.95241410 DT.97812610 DT.100812486 DT.100812484 DT.100812482

DT.100812480 DT.40293675 DT.100037479 DT.121247423 DT.121247412 DT.121247439 DT.121247373 DT.121247478

DT.100812478 DT.121247456 DT.100812477 DT.121247435 DT.121247440 DT.91822060 DT.121247366 DT.121247382

24/395 AceView cDNA sequences (see all 395):

BE397324 AL039250 BM833993 BU681593 AI346453 AI281034 BE673076 AW005681

BF946352 BQ216949 BE901669 AW136204 AI380393 BG391319 BE267534 BM977100

BG696828 N93175 T35145 BM510933 BC009396 BM765541 BC033101 BC007298

GeneLoc Exon Structure

5/23 Alternative Splicing Database (ASD) splice patterns (SP) for MMS19 (see all 23) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	·	2e	^	3a	·	3b	^	4a	·	4b	·	4c	^	5	^	6a	·	6b	^	7a	·	7b	·	7c	·	7d	·	7e	^	8a	·	8b	·	8c	·	8d	·	8e	·	8f	^	9a	·
SP1:			-		-		-		-				-								-		-				-		-						-		-						-		-		-		-
SP2:													-		-						-		-				-		-						-		-		-				-		-		-		-
SP3:																					-		-				-		-						-		-						-		-		-		-
SP4:																																			-		-						-		-		-		-
SP5:

ExUns:	9b	^	10a	·	10b	^	11	^	12	^	13	^	14	^	15	^	16a	·	16b	^	17	^	18	^	19	^	20a	·	20b	^	21	^	22	^	23a	·	23b	^	24	^	25	^	26	^	27	^	28a	·	28b	^	29	^
SP1:													-				-																		-								-				-
SP2:													-				-																		-								-				-
SP3:													-		-		-		-																-								-				-
SP4:													-		-		-																		-								-		-		-
SP5:																																			-								-				-

ExUns:	30a	·	30b	·	30c	^	31	^	32a	·	32b	·	32c	^	33	^	34a	·	34b	^	35a	·	35b
SP1:
SP2:
SP3:
SP4:													-		-		-
SP5:									-

ECgene alternative splicing isoforms for MMS19

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MMS19 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTGTACAAA

About this image
See MMS19 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MMS19

SOURCE GeneReport for Unigene cluster: Hs.500721

UniProtKB/Swiss-Prot: MMS19_HUMAN, Q96T76

Tissue specificity: Ubiquitously expressed with higher expression in testis

SABiosciences Expression via Pathway-Focused PCR Array including MMS19:

DNA Repair in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MMS19 Browse OriGene validated miRNA SYBR primer pairs
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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MMS19

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for MMS19 gene from 10/28 species (see all 28) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Mms19^{1 , 5}	MMS19 (MET18 S. cerevisiae)^{1, 5}	86.86(n)¹ 90(a)¹		19 (35.49 cM)⁵ 72199¹ NM_028152.3¹ NP_082428.1¹ 41941086⁵
chicken (Gallus gallus)	Aves	MMS19¹	MMS19 nucleotide excision repair homolog (S. cerevisiae)	72.83(n) 73.91(a)		423842 XM_421710.3 XP_421710.3
lizard (Anolis carolinensis)	Reptilia	-- --	--	79(a) 67(a)	many → 1 many → 1	GL343810.1(35012-42093) GL343810.1(47694-66058)
African clawed frog (Xenopus laevis)	Amphibia	Xl.15499²	Xenopus laevis transcribed sequence with weak similarity more	75.02(n)		48047146
zebrafish (Danio rerio)	Actinopterygii	LOC563643¹	MMS19 nucleotide excision repair protein homolog	58.04(n) 56.29(a)		563643 XM_001920421.2 XP_001920456.2
fruit fly (Drosophila melanogaster)	Insecta	Mms19¹	CG12005-PB	44.43(n) 32.34(a)		40626 NM_141262.2 NP_649519.1
worm (Caenorhabditis elegans)	Secernentea	mms-19⁶	Protein MMS-19	20(a)	1 ↔ 1	V(5514330-5520447)
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	MET18(YIL128W)⁴ MET18¹	DNA repair and TFIIH regulator, required for both nucleotide more⁴ Met18p¹	38.45(n)¹ 27.4(a)¹		9(113806-116904)⁴ 854678^{1, 4} NP_012138.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G48120⁶	armadillo/beta-catenin-like repeats-containing pro...	19(a)	1 ↔ 1	5(19507902-19514854)
rice (Oryza sativa)	Liliopsida	--	expressed protein	20(a)	1 ↔ 1	7(4076505-4084523)

ENSEMBL Gene Tree for MMS19 (if available)
TreeFam Gene Tree for MMS19 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs29001253^1,2	C,F,H,	--	92883400(-)	`GATGTT/CCTGGG`	1	--	us2k¹		11		EA NS NA	694
rs29001250^1,2	C,F,	--	92883558(-)	`CGCCAC/AGAAGC`	1	--	us2k¹		8		NS NA WA	310
rs29001248^1,2	C,F,	--	92883770(-)	`AGAGCC/TGTAAC`	1	--	us2k¹		6		NS WA	296
rs29001247^1,2	C,	--	92883779(-)	`GCGAGG/TTTCAG`	1	--	us2k¹		6		NS NA	298
rs17112837^1,2	C,F,	--	92884407(-)	`CCCAGG/TTGCGC`	1	--	us2k¹		6		NS EA	310
rs17112841^1,2	C,F,	--	92884421(-)	`CCGCCA/GCCACC`	1	--	us2k¹		9		NS NA EA	424
rs29001242^1,2	C,F,	--	92884422(-)	`GCCGCC/TACCAC`	1	--	us2k¹		6		NS WA	300
rs29001241^1,2	C	--	92884620(-)	`CAGGGG/AGGCCC`	1	--	us2k¹		6		NS NA	190
rs75337420^1,2		--	92885256(+)	`CGGCCA/GGGGTC`	1	--	int¹		0	--	--	--	--
rs4919102^1,2	F,	--	92885573(+)	`TCCAGG/CCCCGC`	1	--	int¹		1		NA	120

HapMap Linkage Disequilibrium report for MMS19 (99218081 - 99258551 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MMS19: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MMS19

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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MMS19 for disorders           About GeneDecksing

OMIM gene information: 614777    OMIM disorders: --

4 diseases for MMS19:    About MalaCards

multiple sclerosis alzheimer's disease pancreatic cancer pancreatitis

Human Genome Epidemiology (HuGE) Navigator: MMS19 (4 documents)

Export disorders for MMS19 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for MMS19 gene, integrated from 9 sources (see all 35):
(articles sorted by number of sources associating them with MMS19)

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Cloning of a human homolog of the yeast nucleotide excision repair gene MMS19 and interaction with transcription repair factor TFIIH via the XPB and XPD helicases. (PubMed id 11071939)^{1, 2, 3, 9} Seroz T....Hoeijmakers J.H.J. (2000)
MMS19 assembles iron-sulfur proteins required for DNA metabolism and genomic integrity. (PubMed id 22678362)^{1, 2} Stehling O....Lill R. (2012)
MMS19 links cytoplasmic iron-sulfur cluster assembly t o DNA metabolism. (PubMed id 22678361)^{1, 2} Gari K....Boulton S.J. (2012)
MMXD, a TFIIH-independent XPD-MMS19 protein complex i nvolved in chromosome segregation. (PubMed id 20797633)^{1, 2} Ito S....Tanaka K. (2010)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)^{1, 2} Deloukas P.... Rogers J. (2004)
The human homologue of the yeast DNA repair and TFIIH regulator MMS19 is an AF-1-specific coactivator of estrogen receptor. (PubMed id 11279242)^{1, 2} Wu X.... Chen J.D. (2001)
Cloning the human and mouse MMS19 genes and functional complementation of a yeast mms19 deletion mutant. (PubMed id 11328871)^{1, 2} Queimado L.... Friedberg E.C. (2001)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
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Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 64210	HGNC: 13824	AceView: MMS19L	Ensembl:ENSG00000155229	euGenes: HUgn64210
ECgene: MMS19	H-InvDB: MMS19

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for MMS19	Pharmacogenomics, SNPs, Pathways
NIEHS-SNPs	http://egp.gs.washington.edu/data/mms19l/

Intellectual Property for MMS19 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for MMS19 gene:
Search GeneIP for patents involving MMS19

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MMS19 nucleotide excision repair homolog (S. cerevisiae)

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MMS19 nucleotide excision repair homolog (S. cerevisiae)

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