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DMC1 Gene

protein-coding GIFtS: 61
GCID: GC22M038914

DNA Meiotic Recombinase 1

(Previous names: DMC1 (dosage suppressor of mck1, yeast homolog) meiosis-specific...)

See related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
DNA Meiotic Recombinase 1¹ ²		dJ199H16.1²
DMC1H² ³		Disrupted Meiotic CDNA1, Yeast, Homolog Of²
LIM15² ³		DMC1 Dosage Suppressor Of Mck1 Homolog, Meiosis-Specific Homologous Recombination²
DMC1 (Dosage Suppressor Of Mck1, Yeast Homolog) Meiosis-Specific Homologous Recombination¹		Meiotic Recombination Protein DMC1/LIM15 Homolog²
DMC1 Dosage Suppressor Of Mck1 Homolog, Meiosis-Specific Homologous Recombination (Yeast)¹

External Ids:	HGNC: 2927¹	Entrez Gene: 11144²	Ensembl: ENSG00000100206⁷	OMIM: 602721⁵	UniProtKB: Q14565³

Export aliases for DMC1 gene to outside databases

Previous GC identifers: GC22M035529 GC22M037157 GC22M037239 GC22M021880

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DMC1 Gene:

This gene encodes a member of the superfamily of recombinases (also called DNA strand-exchange proteins).

Recombinases are important for repairing double-strand DNA breaks during mitosis and meiosis. This protein, which

is evolutionarily conserved, is reported to be essential for meiotic homologous recombination and may thus play

an important role in generating diversity of genetic information. Alternative splicing results in multiple

transcript variants. (provided by RefSeq, May 2013)

GeneCards Summary for DMC1 Gene:

DMC1 (DNA meiotic recombinase 1) is a protein-coding gene. Diseases associated with DMC1 include pterygium, and premature ovarian failure. GO annotations related to this gene include DNA-dependent ATPase activity. An important paralog of this gene is RAD51B.

UniProtKB/Swiss-Prot: DMC1_HUMAN, Q14565

Function: May participate in meiotic recombination, specifically in homologous strand assimilation, which is

required for the resolution of meiotic double-strand breaks (By similarity)

Gene Wiki entry for DMC1 Gene

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:

NC_000022.11 NT_011520.13 NC_018933.2

Regulatory elements:

Regulatory transcription factor binding sites in the DMC1 gene promoter:
STAT5B HOXA9B HOXA9 C/EBPalpha E2F-1 E2F Sox9 aMEF-2 Meis-1a Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: DMC1 promoter sequence

Search Chromatin IP Primers for DMC1

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DMC1

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

Entrez Gene cytogenetic band: 22q13.1 Ensembl cytogenetic band: 22q13.1 HGNC cytogenetic band: 22q13.1

DMC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DMC1 gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22M038914: view genomic region (about GC identifiers)

Start:	38,914,954 bp from pter	End:	38,966,291 bp from pter
Size:	51,338 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DMC1_HUMAN, Q14565 (See protein sequence)

Recommended Name: Meiotic recombination protein DMC1/LIM15 homolog

Size: 340 amino acids; 37681 Da

Subunit: Interacts with the MND1-PSMC3IP heterodimer (By similarity). Double stacked ring-shaped homooctamer.

Interacts with BRCA2

3 PDB 3D structures from and Proteopedia for DMC1:

1V5W (3D)

2ZJB (3D)

4HYY (3D)

Secondary accessions: A8K9A2 Q08AI1 Q99498 Q9UH11

Explore the universe of human proteins at neXtProt for DMC1: NX_Q14565

Explore proteomics data for DMC1 at MOPED

See DMC1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001265137.1 NP_008999.2

ENSEMBL proteins:

ENSP00000216024 ENSP00000391385 ENSP00000410808 ENSP00000412703

Reactome Protein details: Q14565

DMC1 Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	OriGene Purified Protein for DMC1 OriGene Protein Over-expression Lysate for DMC1 OriGene MassSpec for DMC1 OriGene Custom Protein Services for DMC1
	GenScript Custom Purified and Recombinant Proteins Services for DMC1
	Novus Biologicals DMC1 Protein Novus Biologicals DMC1 Lysate
	Browse Sino Biological Recombinant Proteins Browse Sino Biological Cell Lysates
	Browse ProSpec Recombinant Proteins
	Cloud-Clone Corp. Proteins for DMC1

DMC1 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of DMC1
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	OriGene Antibodies for DMC1 OriGene Custom Antibody Services for DMC1
	Novus Biologicals DMC1 Antibodies
	Abcam antibodies for DMC1
	Cloud-Clone Corp. Antibodies for DMC1
	ThermoFisher Antibody for DMC1
	LSBio Antibodies in human, mouse, rat for DMC1

DMC1 Assay Products:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Assay Services for DMC1
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for DMC1
	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for DMC1 Cloud-Clone Corp. CLIAs for DMC1

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 8):

IPR011940 DMC1_rcmbase

IPR020587 RecA_monomer-monomer_interface

IPR020588 RecA_ATP-bd

IPR010995 DNA_repair_Rad51/TF_NusA_a-hlx

IPR016467 DNA_recomb/repair_RecA-like

Graphical View of Domain Structure for InterPro Entry Q14565

ProtoNet protein and cluster: Q14565

1 Blocks protein domain: IPB013632 Rad51

UniProtKB/Swiss-Prot: DMC1_HUMAN, Q14565

Similarity: Belongs to the RecA family. DMC1 subfamily

Similarity: Contains 1 HhH domain

DMC1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: DMC1_HUMAN, Q14565

Function: May participate in meiotic recombination, specifically in homologous strand assimilation, which is

required for the resolution of meiotic double-strand breaks (By similarity)

Genatlas biochemistry entry for DMC1:

DMC1,dosage suppressor of MCK1,S cerevisiae homolog,E Coli Rec-A like gene,forming mixed complexes with RAD51

associated with mouse meiotic chromosomes core and synaptonemal complexes,meiosis-specific homologous

recombination gene

Gene Ontology (GO): Selected molecular function terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	--	--
GO:0003677	DNA binding	IEA	--
GO:0003697	single-stranded DNA binding	--	--
GO:0005515	protein binding	IPI	17541404
GO:0005524	ATP binding	IEA	--

DMC1 for ontologies About GeneDecksing

Phenotypes:
4 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Dmc1):

cellular

endocrine/exocrine gland

homeostasis/metabolism

reproductive system

DMC1 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-outs for DMC1: Dmc1^tm1Tkm Dmc1^tm1Jcs

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DMC1

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DMC1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DMC1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DMC1

Transcription Factor Targeting:

Targeting motifs: HOMER Transcription Factor Regulatory Elements motif viewer

Consensus sequence: ACTYKNATTCGTGNTACTTC

miRNA Products:		Block miRNA regulation of human, mouse, rat DMC1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate DMC1 (see all 18):
		hsa-miR-548j hsa-miR-548i hsa-miR-3653 hsa-miR-197 hsa-miR-205* hsa-miR-548d-5p hsa-miR-548a-5p hsa-miR-548w

		SwitchGear 3'UTR luciferase reporter plasmid: DMC1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for DMC1
		Predesigned siRNA for gene silencing in human, mouse, rat DMC1

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for DMC1

Clone Products:		OriGene clones in human, mouse for DMC1 (see all 6) OriGene ORF clones in mouse, rat for DMC1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DMC1 (NM_007068)
		Sino Biological Human cDNA Clone for DMC1
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DMC1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMC1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for DMC1
		Browse ESI BIO Cell Lines and PureStem Progenitors for DMC1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMC1

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

DMC1_HUMAN, Q14565: Nucleus (Potential). Chromosome (By similarity)

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
nucleus	4
cytosol	2
cytoskeleton	1
peroxisome	1

About this image

Gene Ontology (GO): 4 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000781	chromosome, telomeric region	IEA	--
GO:0000794	condensed nuclear chromosome	IEA	--
GO:0005634	nucleus	--	--
GO:0005694	chromosome	ISS	--

DMC1 for ontologies About GeneDecksing

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for DMC1 About

See pathways by source

SuperPath

Contained pathways About

Meiosis (REACTOME)

Meiosis

0.74

Meiotic Recombination

0.74

Ovarian Infertility Genes

Ovarian Infertility Genes

Meiosis (EMD)

Meiosis

Pathways by source See SuperPaths
Show all pathways

1 BioSystems Pathway for DMC1

Ovarian Infertility Genes

1 Reactome Pathway for DMC1

Meiotic recombination

DMC1 for pathways About GeneDecksing

Pathway & Disease-focused RT² Profiler PCR Array including DMC1:

DNA Repair in human mouse rat

Interactions:

GeneGlobe Interaction Network for DMC1

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

Selected Interacting proteins for DMC1 (Q14565^{1, 2, 3} ENSP00000216024⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 265)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BRCA2	P51587¹^,²^,³, ENSP00000369497⁴	EBI-930865,EBI-79792 MINT-4980903 MINT-4980810 MINT-4980826 MINT-4980889 MINT-4980429 MINT-4980585 MINT-4980860 MINT-4980408 MINT-4980845 MINT-4980457 MINT-4980775 I2D: score=1 STRING: ENSP00000369497
RAD51	Q06609²^,³, ENSP00000267868⁴	MINT-4980408 I2D: score=3 STRING: ENSP00000267868
RPL11	P62913³, ENSP00000363676⁴	I2D: score=5 STRING: ENSP00000363676
ANAPC2	Q9UJX6³, ENSP00000314004⁴	I2D: score=3 STRING: ENSP00000314004
NDC80	O14777³, ENSP00000261597⁴	I2D: score=3 STRING: ENSP00000261597

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Gene Ontology (GO): Selected biological process terms (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001541	ovarian follicle development	IEA	--
GO:0001556	oocyte maturation	IEA	--
GO:0006259	DNA metabolic process	--	--
GO:0006281	DNA repair	--	--
GO:0007126	meiotic nuclear division	TAS	8602360

DMC1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for DMC1

2 Novoseek inferred chemical compound relationships for DMC1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
atp	27	2	19076215 (1), 19004837 (1)
calcium	0	3	19076215 (1), 19004837 (1)

DMC1 for compounds About GeneDecksing

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for DMC1 gene (2 alternative transcripts):

NM_001278208.1 NM_007068.3

Unigene Cluster for DMC1:

DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast)

Hs.339396 [show with all ESTs]

Unigene Representative Sequence: NM_007068

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000216024(uc011anv.1 uc003avz.1) ENST00000439567 ENST00000478820(uc003awa.1)

ENST00000415483 ENST00000464842 ENST00000428462

miRNA Products:		Block miRNA regulation of human, mouse, rat DMC1 using miScript Target Protectors
		Selected qRT-PCR Assays for microRNAs that regulate DMC1 (see all 18):
		hsa-miR-548j hsa-miR-548i hsa-miR-3653 hsa-miR-197 hsa-miR-205* hsa-miR-548d-5p hsa-miR-548a-5p hsa-miR-548w

		SwitchGear 3'UTR luciferase reporter plasmid: DMC1 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for DMC1
		Predesigned siRNA for gene silencing in human, mouse, rat DMC1

Clone Products:		OriGene clones in human, mouse for DMC1 (see all 6) OriGene ORF clones in mouse, rat for DMC1 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: DMC1 (NM_007068)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for DMC1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DMC1

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for DMC1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat DMC1
		QuantiTect SYBR Green Assays in human, mouse, rat DMC1
		QuantiFast Probe-based Assays in human, mouse, rat DMC1

Additional mRNA sequence:

AK292617.1 AK297664.1 BC035658.1 BC125163.1 BC125164.1 CR456486.1 D63882.1 D64108.1

3 DOTS entries:

DT.403812 DT.97795669 DT.95072331

17 AceView cDNA sequences:

CR456486 NM_007068 BM843634 D64108 D63882 BG943139 BP368818 BX091202

BC035658 BM841612 BE348322 BM844232 BM545092 H66279 H67984 BG959880

H67663

GeneLoc Exon Structure

(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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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DMC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TGCTTGTAAT

About this image

DMC1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 4) fully expand


Gonad (Reproductive System) fully expand to see all 5 entries
Primordial Germ Cells Primitive Gonad
Human oogonial stem cells

Ovary (Reproductive System) fully expand to see all 4 entries
Primary Oocyte Primordial Follicle
Ovarian tissue-dissociated cells (human)
Oocytes

Testis (Reproductive System) fully expand to see all 2 entries
Primary Spermatocyte Seminiferous Tubules
testis ; cells in seminiferous ducts

Germ Cells (Reproductive System)
Human oogonial stem cells

DMC1 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

DMC1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.339396

Pathway & Disease-focused RT² Profiler PCR Array including DMC1:

DNA Repair in human mouse rat

Primer Products:		OriGene qSTAR qPCR primer pairs in human, mouse for DMC1
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat DMC1
		QuantiTect SYBR Green Assays in human, mouse, rat DMC1
		QuantiFast Probe-based Assays in human, mouse, rat DMC1

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DMC1

(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)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for DMC1 gene from Selected species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Dmc1^{1 , 5}	DMC1 dosage suppressor of mck1 homolog, meiosis-specific more^{1, 5}	91.96(n)¹ 97.06(a)¹		15 (37.79 cM)⁵ 13404¹ NM_010059.3¹ NP_034189.1¹ 79561500⁵
chicken (Gallus gallus)	Aves	DMC1¹	DMC1 dosage suppressor of mck1 homolog, meiosis-specific more	82.54(n) 96.15(a)		427903 XM_425477.4 XP_425477.3
lizard (Anolis carolinensis)	Reptilia	DMC1⁶	DNA meiotic recombinase 1	94(a)	1 ↔ 1	5(24080499-24097484)
tropical clawed frog (Xenopus tropicalis)	Amphibia	dmc1¹	DNA meiotic recombinase 1	79.23(n) 92.28(a)		100495057 XM_004913760.1 XP_004913817.1
zebrafish (Danio rerio)	Actinopterygii	dmc1¹	DMC1 dosage suppressor of mck1 homolog, meiosis-specific more	74.16(n) 88.76(a)		553953 NM_001020782.1 NP_001018618.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	DMC1(YER179W)⁴ DMC1¹	Meiosis-specific protein required for repair of double-strand more⁴ DMC1¹	58.52(n)¹ 56.19(a)¹		5(548421-549517)⁴ 856926^{1, 4} NP_011106.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	DMC1¹	DMC1	60.29(n) 62.04(a)		821860 NM_113188.2 NP_188928.2
rice (Oryza sativa)	Liliopsida	AB064544.1²	--	73.08(n)		AB064544.1

ENSEMBL Gene Tree for DMC1 (if available)
TreeFam Gene Tree for DMC1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for DMC1 gene

RAD51B² RAD51C²

1 SIMAP similar gene for DMC1 using alignment to 5 protein entries: DMC1_HUMAN (see all proteins):

RAD51

DMC1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs57105975^1,2	C,F	--	22831552(+)	`TTTTTC/TTGTAT`	1	--	ds500¹		3		WA NA	6
rs56175827^1,2	C,F	--	22831561(+)	`ATTTTG/TGTAGA`	1	--	ds500¹		3		WA NA	6
rs140184939^1,2	C	--	22831572(+)	`GACGGA/GGTTTT`	1	--	ds500¹		0	--	--	--	--
rs116668903^1,2	F	--	22831709(+)	`TGTAAC/TATTAA`	1	--	ds500¹		1		WA	118
rs192621487^1,2		--	22831722(+)	`TCTATA/GAAGAT`	1	--	ds500¹		0	--	--	--	--
rs184781596^1,2		--	22831785(+)	`CATATC/TTTCAC`	1	--	ds500¹		0	--	--	--	--
rs189688226^1,2		--	22831804(+)	`CATTTC/TGAAAA`	1	--	ut3¹		0	--	--	--	--
rs11570436^1,2	C,F,H	--	22831850(-)	`AATGTG/ATAAAA`	1	--	ut3¹ ese³		8		NS NA	1280
rs7289854^1,2	C	--	22832135(+)	`tgaacT/Gcctga`	1	--	ut3¹ ese³		1		NS	168
rs201536109^1,2	C	--	22832295(-)	`TATAGA/CAACAG`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for DMC1 (38914954 - 38966291 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for DMC1: About this table

Variant ID	Type	Subtype	PubMed ID
nsv3624	CNV	Loss	18451855
esv28829	CNV	Loss	19812545
nsv915066	CNV	Loss	21882294
esv1003190	OTHER	Inversion	20482838

Human Gene Mutation Database (HGMD): DMC1

Site Specific Mutation Identification with PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602721 OMIM disorders: --

7 diseases for DMC1:
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pterygium premature ovarian failure bloom syndrome keratoderma

azoospermia infertility breast cancer

DMC1 for disorders About GeneDecksing

Genetic Association Database (GAD): DMC1
Human Genome Epidemiology (HuGE) Navigator: DMC1 (4 documents)

Export disorders for DMC1 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 DMC1 gene, integrated from 10 sources (see all 67):
(articles sorted by number of sources associating them with DMC1)

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The mouse and human homologs of DMC1, the yeast meiosis-specific homologous recombination gene, have a common unique form of exon- skipped transcript in meiosis. (PubMed id 8602360)^{1, 2, 3, 9} Habu T.... Morita T. (Nucleic Acids Res. 1996)
Expression profiles of a human gene identified as a structural homologue of meiosis-specific recA-like genes. (PubMed id 8590282)^{1, 2, 3} Sato S.... Tabata S. (DNA Res. 1995)
Structural basis for octameric ring formation and DNA interaction of the human homologous-pairing protein Dmc1. (PubMed id 15125839)^{1, 2, 9} Kinebuchi T.... Yokoyama S. (Mol. Cell 2004)
Interactions between human BRCA2 protein and the meiosis-specific recombinase DMC1. (PubMed id 17541404)^{1, 3, 9} Thorslund T....West S.C. (EMBO J. 2007)
Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. (PubMed id 20378615)^{1, 4} Aston K.I....Carrell D.T. (Hum. Reprod. 2010)
Genetic variation in genes interacting with BRCA1/2 and risk of breast cancer in the Cypriot population. (PubMed id 19714462)^{1, 4} Loizidou M.A....Kyriacou K. (Breast Cancer Res. Treat. 2010)
Genetic investigation of four meiotic genes in women with premature ovarian failure. (PubMed id 18166824)^{1, 4} Mandon-PAcpin B....Fellous M. (Eur. J. Endocrinol. 2008)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (Genome Biol. 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. (Genome Res. 2004)
The DNA sequence of human chromosome 22. (PubMed id 10591208)^{1, 2} Dunham I.... Wright H. (Nature 1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

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: 11144	HGNC: 2927	AceView: DMC1	Ensembl:ENSG00000100206	euGenes: HUgn11144
ECgene: DMC1	H-InvDB: DMC1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for DMC1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for DMC1	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/dmc1/

Intellectual Property for DMC1 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 DMC1 gene:
Search GeneIP for patents involving DMC1

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