Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	27030
Gene name Gene Name - the full gene name approved by the HGNC.	MutL homolog 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MLH3
Synonyms (NCBI Gene) Gene synonyms aliases	HNPCC7
Chromosome Chromosome number	14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	14q24.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a he

Show/Hide all(8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28756990	C>A,T	Likely-benign, pathogenic, benign	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121908439	A>G	Pathogenic, uncertain-significance	Intron variant, coding sequence variant, missense variant, stop lost, non coding transcript variant
rs587776622	C>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, non coding transcript variant
rs745657036	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant, non coding transcript variant
rs754716792	CT>-	Pathogenic, uncertain-significance	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs797045117	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1431264077	C>-	Pathogenic	Non coding transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs1555343301	A>C,G	Likely-pathogenic	Splice donor variant

Show/Hide all(187)

miRTarBase ID	miRNA	Experiments	Reference
MIRT043606	hsa-miR-151a-3p	CLASH	23622248
MIRT041797	hsa-miR-484	CLASH	23622248
MIRT039929	hsa-miR-615-3p	CLASH	23622248
MIRT038410	hsa-miR-296-3p	CLASH	23622248
MIRT1151013	hsa-miR-1233	CLIP-seq
MIRT1151014	hsa-miR-1266	CLIP-seq
MIRT1151015	hsa-miR-1587	CLIP-seq
MIRT1151016	hsa-miR-27a	CLIP-seq
MIRT1151017	hsa-miR-27b	CLIP-seq
MIRT1151018	hsa-miR-3173-5p	CLIP-seq
MIRT1151019	hsa-miR-320e	CLIP-seq
MIRT1151020	hsa-miR-370	CLIP-seq
MIRT1151021	hsa-miR-378g	CLIP-seq
MIRT1151022	hsa-miR-4268	CLIP-seq
MIRT1151023	hsa-miR-4270	CLIP-seq
MIRT1151024	hsa-miR-4291	CLIP-seq
MIRT1151025	hsa-miR-4310	CLIP-seq
MIRT1151026	hsa-miR-4317	CLIP-seq
MIRT1151027	hsa-miR-4441	CLIP-seq
MIRT1151028	hsa-miR-4448	CLIP-seq
MIRT1151029	hsa-miR-4492	CLIP-seq
MIRT1151030	hsa-miR-4498	CLIP-seq
MIRT1151031	hsa-miR-4518	CLIP-seq
MIRT1151032	hsa-miR-4656	CLIP-seq
MIRT1151033	hsa-miR-4675	CLIP-seq
MIRT1151034	hsa-miR-4741	CLIP-seq
MIRT1151035	hsa-miR-4797-5p	CLIP-seq
MIRT1151036	hsa-miR-5096	CLIP-seq
MIRT1151037	hsa-miR-513a-5p	CLIP-seq
MIRT1151038	hsa-miR-626	CLIP-seq
MIRT1151039	hsa-miR-762	CLIP-seq
MIRT1151040	hsa-miR-767-3p	CLIP-seq
MIRT1151041	hsa-miR-1208	CLIP-seq
MIRT1151042	hsa-miR-134	CLIP-seq
MIRT1151043	hsa-miR-188-5p	CLIP-seq
MIRT1151044	hsa-miR-296-5p	CLIP-seq
MIRT1151045	hsa-miR-3118	CLIP-seq
MIRT1151046	hsa-miR-3120-5p	CLIP-seq
MIRT1151047	hsa-miR-3145-3p	CLIP-seq
MIRT1151048	hsa-miR-3164	CLIP-seq
MIRT1151049	hsa-miR-3185	CLIP-seq
MIRT1151050	hsa-miR-3194-3p	CLIP-seq
MIRT1151051	hsa-miR-3200-5p	CLIP-seq
MIRT1151052	hsa-miR-331-5p	CLIP-seq
MIRT1151053	hsa-miR-346	CLIP-seq
MIRT1151054	hsa-miR-3664-5p	CLIP-seq
MIRT1151055	hsa-miR-3689a-5p	CLIP-seq
MIRT1151056	hsa-miR-3689b	CLIP-seq
MIRT1151057	hsa-miR-3689e	CLIP-seq
MIRT1151058	hsa-miR-3689f	CLIP-seq
MIRT1151059	hsa-miR-4256	CLIP-seq
MIRT1151060	hsa-miR-4288	CLIP-seq
MIRT1151061	hsa-miR-4420	CLIP-seq
MIRT1151062	hsa-miR-4424	CLIP-seq
MIRT1151063	hsa-miR-4446-5p	CLIP-seq
MIRT1151064	hsa-miR-4522	CLIP-seq
MIRT1151065	hsa-miR-4659a-5p	CLIP-seq
MIRT1151066	hsa-miR-4659b-5p	CLIP-seq
MIRT1151067	hsa-miR-4661-5p	CLIP-seq
MIRT1151068	hsa-miR-4677-3p	CLIP-seq
MIRT1151069	hsa-miR-4678	CLIP-seq
MIRT1151070	hsa-miR-4679	CLIP-seq
MIRT1151071	hsa-miR-4682	CLIP-seq
MIRT1151072	hsa-miR-4727-5p	CLIP-seq
MIRT1151073	hsa-miR-4755-5p	CLIP-seq
MIRT1151074	hsa-miR-4769-3p	CLIP-seq
MIRT1151075	hsa-miR-4803	CLIP-seq
MIRT1151036	hsa-miR-5096	CLIP-seq
MIRT1151076	hsa-miR-544	CLIP-seq
MIRT1151077	hsa-miR-548ac	CLIP-seq
MIRT1151078	hsa-miR-548ae	CLIP-seq
MIRT1151079	hsa-miR-548aj	CLIP-seq
MIRT1151080	hsa-miR-548am	CLIP-seq
MIRT1151081	hsa-miR-548d-3p	CLIP-seq
MIRT1151082	hsa-miR-548x	CLIP-seq
MIRT1151083	hsa-miR-548z	CLIP-seq
MIRT1151084	hsa-miR-591	CLIP-seq
MIRT1151085	hsa-miR-614	CLIP-seq
MIRT1151086	hsa-miR-632	CLIP-seq
MIRT1151087	hsa-miR-635	CLIP-seq
MIRT1151040	hsa-miR-767-3p	CLIP-seq
MIRT2043075	hsa-miR-219-2-3p	CLIP-seq
MIRT2043076	hsa-miR-2964a-3p	CLIP-seq
MIRT2043077	hsa-miR-3646	CLIP-seq
MIRT2043078	hsa-miR-4452	CLIP-seq
MIRT2043079	hsa-miR-511	CLIP-seq
MIRT2272568	hsa-miR-1298	CLIP-seq
MIRT1151016	hsa-miR-27a	CLIP-seq
MIRT1151017	hsa-miR-27b	CLIP-seq
MIRT2272569	hsa-miR-3160-3p	CLIP-seq
MIRT2272570	hsa-miR-3914	CLIP-seq
MIRT2272571	hsa-miR-3925-3p	CLIP-seq
MIRT2272572	hsa-miR-4257	CLIP-seq
MIRT2272573	hsa-miR-4267	CLIP-seq
MIRT1151023	hsa-miR-4270	CLIP-seq
MIRT2272574	hsa-miR-4287	CLIP-seq
MIRT1151024	hsa-miR-4291	CLIP-seq
MIRT1151027	hsa-miR-4441	CLIP-seq
MIRT2272575	hsa-miR-4487	CLIP-seq
MIRT2272576	hsa-miR-4663	CLIP-seq
MIRT2272577	hsa-miR-4685-3p	CLIP-seq
MIRT1151036	hsa-miR-5096	CLIP-seq
MIRT1151037	hsa-miR-513a-5p	CLIP-seq
MIRT2272578	hsa-miR-513c	CLIP-seq
MIRT2272579	hsa-miR-514b-5p	CLIP-seq
MIRT2272580	hsa-miR-515-5p	CLIP-seq
MIRT2272581	hsa-miR-548u	CLIP-seq
MIRT2272582	hsa-miR-558	CLIP-seq
MIRT2272583	hsa-miR-600	CLIP-seq
MIRT2272584	hsa-miR-766	CLIP-seq
MIRT1151040	hsa-miR-767-3p	CLIP-seq
MIRT2454189	hsa-miR-1263	CLIP-seq
MIRT2454190	hsa-miR-138	CLIP-seq
MIRT1151015	hsa-miR-1587	CLIP-seq
MIRT2454191	hsa-miR-3127-5p	CLIP-seq
MIRT1151020	hsa-miR-370	CLIP-seq
MIRT1151021	hsa-miR-378g	CLIP-seq
MIRT2454192	hsa-miR-3918	CLIP-seq
MIRT1151029	hsa-miR-4492	CLIP-seq
MIRT1151030	hsa-miR-4498	CLIP-seq
MIRT1151032	hsa-miR-4656	CLIP-seq
MIRT1151033	hsa-miR-4675	CLIP-seq
MIRT2454193	hsa-miR-4704-3p	CLIP-seq
MIRT1151034	hsa-miR-4741	CLIP-seq
MIRT1151039	hsa-miR-762	CLIP-seq
MIRT1151013	hsa-miR-1233	CLIP-seq
MIRT2454189	hsa-miR-1263	CLIP-seq
MIRT1151014	hsa-miR-1266	CLIP-seq
MIRT2454190	hsa-miR-138	CLIP-seq
MIRT1151015	hsa-miR-1587	CLIP-seq
MIRT2454191	hsa-miR-3127-5p	CLIP-seq
MIRT2571457	hsa-miR-3152-5p	CLIP-seq
MIRT1151018	hsa-miR-3173-5p	CLIP-seq
MIRT1151019	hsa-miR-320e	CLIP-seq
MIRT1151020	hsa-miR-370	CLIP-seq
MIRT1151021	hsa-miR-378g	CLIP-seq
MIRT2454192	hsa-miR-3918	CLIP-seq
MIRT2272572	hsa-miR-4257	CLIP-seq
MIRT1151023	hsa-miR-4270	CLIP-seq
MIRT1151027	hsa-miR-4441	CLIP-seq
MIRT1151029	hsa-miR-4492	CLIP-seq
MIRT1151030	hsa-miR-4498	CLIP-seq
MIRT1151031	hsa-miR-4518	CLIP-seq
MIRT1151032	hsa-miR-4656	CLIP-seq
MIRT1151033	hsa-miR-4675	CLIP-seq
MIRT2454193	hsa-miR-4704-3p	CLIP-seq
MIRT1151034	hsa-miR-4741	CLIP-seq
MIRT2571458	hsa-miR-4774-3p	CLIP-seq
MIRT1151035	hsa-miR-4797-5p	CLIP-seq
MIRT2571459	hsa-miR-491-3p	CLIP-seq
MIRT1151038	hsa-miR-626	CLIP-seq
MIRT1151039	hsa-miR-762	CLIP-seq
MIRT1151040	hsa-miR-767-3p	CLIP-seq
MIRT2685052	hsa-miR-1207-3p	CLIP-seq
MIRT1151013	hsa-miR-1233	CLIP-seq
MIRT2454189	hsa-miR-1263	CLIP-seq
MIRT1151014	hsa-miR-1266	CLIP-seq
MIRT2454190	hsa-miR-138	CLIP-seq
MIRT1151015	hsa-miR-1587	CLIP-seq
MIRT2454191	hsa-miR-3127-5p	CLIP-seq
MIRT2272569	hsa-miR-3160-3p	CLIP-seq
MIRT1151018	hsa-miR-3173-5p	CLIP-seq
MIRT1151019	hsa-miR-320e	CLIP-seq
MIRT1151020	hsa-miR-370	CLIP-seq
MIRT1151021	hsa-miR-378g	CLIP-seq
MIRT2454192	hsa-miR-3918	CLIP-seq
MIRT2685053	hsa-miR-3974	CLIP-seq
MIRT2272572	hsa-miR-4257	CLIP-seq
MIRT2685054	hsa-miR-4263	CLIP-seq
MIRT1151023	hsa-miR-4270	CLIP-seq
MIRT1151027	hsa-miR-4441	CLIP-seq
MIRT2272575	hsa-miR-4487	CLIP-seq
MIRT1151029	hsa-miR-4492	CLIP-seq
MIRT1151030	hsa-miR-4498	CLIP-seq
MIRT1151031	hsa-miR-4518	CLIP-seq
MIRT2685055	hsa-miR-4521	CLIP-seq
MIRT1151032	hsa-miR-4656	CLIP-seq
MIRT2272576	hsa-miR-4663	CLIP-seq
MIRT1151033	hsa-miR-4675	CLIP-seq
MIRT2454193	hsa-miR-4704-3p	CLIP-seq
MIRT1151034	hsa-miR-4741	CLIP-seq
MIRT1151035	hsa-miR-4797-5p	CLIP-seq
MIRT2272582	hsa-miR-558	CLIP-seq
MIRT2685056	hsa-miR-576-5p	CLIP-seq
MIRT1151038	hsa-miR-626	CLIP-seq
MIRT1151039	hsa-miR-762	CLIP-seq
MIRT1151040	hsa-miR-767-3p	CLIP-seq

Show/Hide all(32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000793	Component	Condensed chromosome	IEA
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000795	Component	Synaptonemal complex	IEA
GO:0001673	Component	Male germ cell nucleus	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003696	Function	Satellite DNA binding	TAS	10615123
GO:0005515	Function	Protein binding	IPI	11292842, 20603073, 27229929, 32814053, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10615123
GO:0005654	Component	Nucleoplasm	IDA
GO:0005712	Component	Chiasma	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006298	Process	Mismatch repair	IBA
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	IEA
GO:0006298	Process	Mismatch repair	NAS	12095912
GO:0006298	Process	Mismatch repair	TAS	10615123
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007130	Process	Synaptonemal complex assembly	IEA
GO:0007131	Process	Reciprocal meiotic recombination	NAS	12095912
GO:0007140	Process	Male meiotic nuclear division	IEA
GO:0007144	Process	Female meiosis I	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0016887	Function	ATP hydrolysis activity	IBA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019237	Function	Centromeric DNA binding	IEA
GO:0030983	Function	Mismatched DNA binding	IEA
GO:0032300	Component	Mismatch repair complex	IBA
GO:0032300	Component	Mismatch repair complex	IEA
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IEA

MIM	HGNC	e!Ensembl
604395	7128	ENSG00000119684

Protein

UniProt ID

Q9UHC1

Protein name

DNA mismatch repair protein Mlh3 (MutL protein homolog 3)

Protein function

Probably involved in the repair of mismatches in DNA.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01119	DNA_mis_repair	211 → 349	DNA mismatch repair protein, C-terminal domain	Family
PF08676	MutL_C	1190 → 1372	MutL C terminal dimerisation domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous.

Sequence

MIKCLSVEVQAKLRSGLAISSLGQCVEELALNSIDAEAKCVAVRVNMETFQVQVIDNGFG
MGSDDVEKVGNRYFTSKCHSVQDLENPRFYGFRGEALANIADMASAVEISSKKNRTMKTF
VKLFQSGKALKACEADVTRASAGTTVTVYNLFYQLPVRRKCMDPRLEFEKVRQRIEALSL
MHPSISFSLRNDVSGSMVLQLPKTKDVCSRFCQIYGLGKSQKLREISFKYKEFELSGYIS
SEAHYNKNMQFLFVNKRLVLRTKLHKLIDFLLRKESIICKPKNGPTSRQMNSSLRHRSTP
ELYGIYVINVQCQFCEYDVCMEPAKTLIEFQNWDTLLFCIQEGVKMFLKQEKLFVELSGE
DIKEFSEDNGFSLFDATLQKRVTSDERSNFQEACNNILDSYEMFNLQSKAVKRKTTAENV
NTQSSRDSEATRKNTNDAFLYIYESGGPGHSKMTEPSLQNKDSSCSESKMLEQETIVASE
AGENEKHKKSFLEHSSLENPCGTSLEMFLSPFQTPCHFEESGQDLEIWKESTTVNGMAAN
ILKNNRIQNQPKRFKDATEVGCQPLPFATTLWGVHSAQTEKEKKKESSNCGRRNVFSYGR
VKLCSTGFITHVVQNEKTKSTETEHSFKNYVRPGPTRAQETFGNRTRHSVETPDIKDLAS
TLSKESGQLPNKKNCRTNISYGLENEPTATYTMFSAFQEGSKKSQTDCILSDTSPSFPWY
RHVSNDSRKTDKLIGFSKPIVRKKLSLSSQLGSLEKFKRQYGKVENPLDTEVEESNGVTT
NLSLQVEPDILLKDKNRLENSDVCKITTMEHSDSDSSCQPASHILNSEKFPFSKDEDCLE
QQMPSLRESPMTLKELSLFNRKPLDLEKSSESLASKLSRLKGSERETQTMGMMSRFNELP
NSDSSRKDSKLCSVLTQDFCMLFNNKHEKTENGVIPTSDSATQDNSFNKNSKTHSNSNTT
ENCVISETPLVLPYNNSKVTGKDSDVLIRASEQQIGSLDSPSGMLMNPVEDATGDQNGIC
FQSEESKARACSETEESNTCCSDWQRHFDVALGRMVYVNKMTGLSTFIAPTEDIQAACTK
DLTTVAVDVVLENGSQYRCQPFRSDLVLPFLPRARAERTVMRQDNRDTVDDTVSSESLQS
LFSEWDNPVFARYPEVAVDVSSGQAESLAVKIHNILYPYRFTKGMIHSMQVLQQVDNKFI
ACLMSTKTEENGEAGGNLLVLVDQHAAHERIRLEQLIIDSYEKQQAQGSGRKKLLSSTLI
PPLEITVTEEQRRLLWCYHKNLEDLGLEFVFPDTSDSLVLVGKVPLCFVEREANELRRGR
STVTKSIVEEFIREQLELLQTTGGIQGTLPLTVQKVLASQACHGAIKFNDGLSLQESCRL
IEALSSCQLPFQCAHGRPSMLPLADIDHLEQEKQIKPNLTKLRKMAQAWRLFGKAECDTR
QSLQQSMPPCEPP

Sequence length

1453

Interactions

View interactions

	KEGG
	Mismatch repair

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
colorectal cancer	Colorectal cancer, hereditary nonpolyposis, type 7	rs797045117	N/A

Show/Hide Unknown Diseases (8)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Breast Cancer	Malignant tumor of breast	N/A	N/A	ClinVar
Breast Carcinoma	breast carcinoma	N/A	N/A	ClinVar
Endometrial carcinoma	endometrial carcinoma	N/A	N/A	ClinVar
hereditary cancer	Hereditary cancer	N/A	N/A	ClinVar
Lynch Syndrome	lynch syndrome	N/A	N/A	ClinVar
Lynch syndrome	Lynch syndrome 1	N/A	N/A	ClinVar
ovarian cancer	Ovarian cancer	N/A	N/A	ClinVar
premature ovarian failure	Premature ovarian failure	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenomatous Polyposis Coli	Associate	30573798
Arrest of spermatogenesis	Associate	28157160
Attenuated familial adenomatous polyposis	Associate	30573798
Breast Neoplasms	Associate	19781088, 20003265, 30573798, 37656691
Colonic Polyps	Associate	30573798
Colorectal Neoplasms	Associate	29516665, 31530839
Colorectal Neoplasms Hereditary Nonpolyposis	Associate	29568967, 30614234, 31297992, 35475445, 36833239
Esophageal Neoplasms	Associate	16981255
Friedreich Ataxia	Associate	29529236
HAIR AN syndrome	Inhibit	32197467
Hamartoma	Associate	32390703
Hereditary Breast and Ovarian Cancer Syndrome	Associate	24549055
Infertility	Associate	18706547
Infertility Male	Associate	18706547, 26520453, 28157160
Intestinal Polyposis	Associate	30573798
Lupus Erythematosus Systemic	Associate	27492607
Mesothelioma Malignant	Associate	34008015
Microsatellite Instability	Associate	10934138, 23246972, 31530839
Neoplasms	Associate	22623965, 25576899, 28848075, 30573798, 30942098, 36833239, 37086484
Neoplastic Syndromes Hereditary	Associate	10934138, 16981255
Oligospermia	Associate	26520453
Papillomavirus Infections	Associate	24759751
Peutz Jeghers Syndrome	Associate	32390703
Sertoli Cell Only Syndrome	Associate	18706547
Thyroid Carcinoma Anaplastic	Associate	25576899
Urinary Bladder Neoplasms	Associate	28848075
Uterine Cervical Neoplasms	Associate	24759751
Uveal melanoma	Associate	30107825

MLH3 (mutL homolog 3)