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.	22880
Gene name Gene Name - the full gene name approved by the HGNC.	MORC family CW-type zinc finger 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MORC2
Synonyms (NCBI Gene) Gene synonyms aliases	CMT2Z, DIGFAN, ZCW3, ZCWCC1
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q12.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the Microrchidia (MORC) protein superfamily. The encoded protein is known to regulate the condensation of heterochromatin in response to DNA damage and play a role in repressing transcription. The protein has been found to re

Show/Hide all(13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs749060708	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs864309503	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs864309504	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs886037934	T>C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1064795559	G>A	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064796495	C>A,G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1163530787	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555938796	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs1602485958	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1602499631	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1602499659	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1602510200	C>T	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant
rs1602510214	G>A	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant

Show/Hide all(52)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045739	hsa-miR-125a-5p	CLASH	23622248
MIRT039847	hsa-miR-615-3p	CLASH	23622248
MIRT497228	hsa-miR-3675-5p	PAR-CLIP	22291592
MIRT497227	hsa-miR-4742-5p	PAR-CLIP	22291592
MIRT497226	hsa-miR-4269	PAR-CLIP	22291592
MIRT497225	hsa-miR-6715b-5p	PAR-CLIP	22291592
MIRT497224	hsa-miR-4514	PAR-CLIP	22291592
MIRT497223	hsa-miR-4692	PAR-CLIP	22291592
MIRT497222	hsa-miR-877-3p	PAR-CLIP	22291592
MIRT497221	hsa-miR-6515-3p	PAR-CLIP	22291592
MIRT440220	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440220	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT497228	hsa-miR-3675-5p	PAR-CLIP	22291592
MIRT497227	hsa-miR-4742-5p	PAR-CLIP	22291592
MIRT497226	hsa-miR-4269	PAR-CLIP	22291592
MIRT497225	hsa-miR-6715b-5p	PAR-CLIP	22291592
MIRT497224	hsa-miR-4514	PAR-CLIP	22291592
MIRT497223	hsa-miR-4692	PAR-CLIP	22291592
MIRT497222	hsa-miR-877-3p	PAR-CLIP	22291592
MIRT497221	hsa-miR-6515-3p	PAR-CLIP	22291592
MIRT2044497	hsa-miR-1184	CLIP-seq
MIRT2044498	hsa-miR-1238	CLIP-seq
MIRT2044499	hsa-miR-1301	CLIP-seq
MIRT2044500	hsa-miR-296-3p	CLIP-seq
MIRT2044501	hsa-miR-3184	CLIP-seq
MIRT2044502	hsa-miR-3665	CLIP-seq
MIRT2044503	hsa-miR-423-5p	CLIP-seq
MIRT2044504	hsa-miR-4660	CLIP-seq
MIRT2044505	hsa-miR-4688	CLIP-seq
MIRT2044506	hsa-miR-4691-5p	CLIP-seq
MIRT2044507	hsa-miR-4719	CLIP-seq
MIRT2044508	hsa-miR-4736	CLIP-seq
MIRT2044509	hsa-miR-486-3p	CLIP-seq
MIRT2044510	hsa-miR-5047	CLIP-seq
MIRT2044511	hsa-miR-548v	CLIP-seq
MIRT2044501	hsa-miR-3184	CLIP-seq
MIRT2044502	hsa-miR-3665	CLIP-seq
MIRT2044503	hsa-miR-423-5p	CLIP-seq
MIRT2044505	hsa-miR-4688	CLIP-seq
MIRT2044508	hsa-miR-4736	CLIP-seq
MIRT2044509	hsa-miR-486-3p	CLIP-seq
MIRT2273702	hsa-miR-541	CLIP-seq
MIRT2273703	hsa-miR-654-5p	CLIP-seq
MIRT2044500	hsa-miR-296-3p	CLIP-seq
MIRT2044501	hsa-miR-3184	CLIP-seq
MIRT2044502	hsa-miR-3665	CLIP-seq
MIRT2044503	hsa-miR-423-5p	CLIP-seq
MIRT2044505	hsa-miR-4688	CLIP-seq
MIRT2044508	hsa-miR-4736	CLIP-seq
MIRT2044509	hsa-miR-486-3p	CLIP-seq
MIRT2273702	hsa-miR-541	CLIP-seq
MIRT2273703	hsa-miR-654-5p	CLIP-seq

Show/Hide all(33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	29440755
GO:0000792	Component	Heterochromatin	IDA	28581500
GO:0003682	Function	Chromatin binding	IDA	23260667, 29211708
GO:0005515	Function	Protein binding	IPI	28514442, 28581500, 33961781
GO:0005524	Function	ATP binding	IDA	29440755
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	23260667
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	23260667
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0006338	Process	Chromatin remodeling	IDA	23260667
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006974	Process	DNA damage response	IDA	23260667
GO:0008270	Function	Zinc ion binding	IDA	29440755
GO:0008270	Function	Zinc ion binding	IEA
GO:0016363	Component	Nuclear matrix	IDA	23260667
GO:0016363	Component	Nuclear matrix	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	23260667, 29440755
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0042802	Function	Identical protein binding	IPI	29440755
GO:0042803	Function	Protein homodimerization activity	IDA	29440755
GO:0046872	Function	Metal ion binding	IEA
GO:0140719	Process	Constitutive heterochromatin formation	IDA	28581500
GO:0141005	Process	Transposable element silencing by heterochromatin formation	IDA	29211708

MIM	HGNC	e!Ensembl
616661	23573	ENSG00000133422

Protein

UniProt ID

Q9Y6X9

Protein name

ATPase MORC2 (EC 3.6.1.-) (MORC family CW-type zinc finger protein 2) (Zinc finger CW-type coiled-coil domain protein 1)

Protein function

Essential for epigenetic silencing by the HUSH (human silencing hub) complex. Recruited by HUSH to target site in heterochromatin, the ATPase activity and homodimerization are critical for HUSH-mediated silencing (PubMed:28581500, PubMed:2944075

PDB

5OF9 , 5OFA , 5OFB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13589	HATPase_c_3	26 → 169		Domain
PF17942	Morc6_S5	323 → 451	Morc6 ribosomal protein S5 domain 2-like	Family
PF07496	zf-CW	495 → 542	CW-type Zinc Finger	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in smooth muscle, pancreas and testis.

Sequence

MAFTNYSSLNRAQLTFEYLHTNSTTHEFLFGALAELVDNARDADATRIDIYAERREDLRG
GFMLCFLDDGAGMDPSDAASVIQFGKSAKRTPESTQIGQYGNGLKSGSMRIGKDFILFTK
KEDTMTCLFLSRTFHEEEGIDEVIVPLPTWNARTREPVTDNVEKFAIETELIYKYSPFRT
EEEVMTQFMKIPGDSGTLVIIFNLKLMDNGEPELDIISNPRDIQMAETSPEGTKPERRSF
RAYAAVLYIDPRMRIFIHGHKVQTKRLSCCLYKPRMYKYTSSRFKTRAEQEVKKAEHVAR
IAEEKAREAESKARTLEVRLGGDLTRDSRVMLRQVQNRAITLRREADVKKRIKEAKQRAL
KEPKELNFVFGVNIEHRDLDGMFIYNCSRLIKMYEKVGPQLEGGMACGGVVGVVDVPYLV
LEPTHNKQDFADAKEYRHLLRAMGEHLAQYWKDIAIAQRGIIKFWDEFGYLSANWNQPPS
SELRYKRRRAMEIPTTIQCDLCLKWRTLPFQLSSVEKDYPDTWVCSMNPDPEQDRCEASE
QKQKVPLGTFRKDMKTQEEKQKQLTEKIRQQQEKLEALQKTTPIRSQADLKKLPLEVTTR
PSTEEPVRRPQRPRSPPLPAVIRNAPSRPPSLPTPRPASQPRKAPVISSTPKLPALAARE
EASTSRLLQPPEAPRKPANTLVKTASRPAPLVQQLSPSLLPNSKSPREVPSPKVIKTPVV
KKTESPIKLSPATPSRKRSVAVSDEEEVEEEAERRKERCKRGRFVVKEEKKDSNELSDSA
GEEDSADLKRAQKDKGLHVEVRVNREWYTGRVTAVEVGKHVVRWKVKFDYVPTDTTPRDR
WVEKGSEDVRLMKPPSPEHQSLDTQQEGGEEEVGPVAQQAIAVAEPSTSECLRIEPDTTA
LSTNHETIDLLVQILRNCLRYFLPPSFPISKKQLSAMNSDELISFPLKEYFKQYEVGLQN
LCNSYQSRADSRAKASEESLRTSERKLRETEEKLQKLRTNIVALLQKVQEDIDINTDDEL
DAYIEDLITKGD

Sequence length

1032

Interactions

View interactions

	Reactome
			Fatty acyl-CoA biosynthesis

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease axonal type 2Z	rs1064796495, rs1555938796, rs1555938741, rs864309503, rs1602496057, rs864309504, rs1602485728, rs1602499659, rs1602510200, rs886037934, rs1602510214	N/A
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	rs864309503, rs1602485728, rs864309504, rs886037934	N/A
Developmental Delay	global developmental delay	rs864309504	N/A
Distal Spinal Muscular Atrophy	distal spinal muscular atrophy	rs864309503	N/A

Show/Hide Unknown Diseases (3)

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.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Distal Hereditary Motor Neuronopathy	Neuronopathy, distal hereditary motor, autosomal dominant	N/A	N/A	ClinVar
Leigh Syndrome	Leigh syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (43)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alcoholic Neuropathy	Associate	35904125, 36791574
Breast Neoplasms	Associate	32112098, 33626175, 34974534, 35522895, 36793866
Carcinogenesis	Associate	30644437, 31180332, 36234785, 37737260
Carcinoma Renal Cell	Associate	37737260
Charcot Marie Tooth Disease	Associate	26659848, 28581500, 34189813, 34974534, 35904125
Charcot Marie Tooth disease Type 2B	Associate	34189813
Charcot Marie Tooth disease Type 2E	Associate	35904125
Cholangiocarcinoma	Stimulate	31180332
Cockayne Syndrome	Associate	36791574
Colorectal Neoplasms	Associate	25117815, 32749190
Colorectal Neoplasms	Stimulate	36234785
Developmental Disabilities	Associate	32693025, 34189813, 34974534, 36791574
DNA Repair Deficiency Disorders	Associate	36791574
Epileptic Encephalopathy Early Infantile 3	Associate	35904125
Facies	Associate	36791574
Genetic Diseases Inborn	Associate	32693025
Glioma	Associate	34913078
Graves Ophthalmopathy	Associate	36076300
Growth Disorders	Associate	32693025, 35904125, 36791574
Hereditary Sensory and Motor Neuropathy	Associate	26659848
Hypersensitivity Delayed	Associate	34189813
Inflammation	Inhibit	36234785
Intellectual Disability	Associate	32693025
Leigh Disease	Associate	32693025, 36675121
Lymphatic Metastasis	Associate	31180332
Lymphatic Metastasis	Stimulate	39312367
Microcephaly	Associate	32693025, 36791574
Muscle Weakness	Associate	33844363
Muscular Atrophy Spinal	Associate	32693025, 35904125, 36791574
Neoplasm Metastasis	Associate	31180332
Neoplasms	Associate	26098774, 32749190, 33626175, 34913078, 34974534, 35522895, 36234785, 36967563, 37352040
Neoplasms	Inhibit	37737260
Nervous System Diseases	Associate	32693025, 33844363
Neuromuscular Diseases	Associate	35904125
Peripheral Nervous System Diseases	Associate	35904125
Plagiocephaly and X linked mental retardation	Associate	32693025, 35904125
Reflex Abnormal	Associate	32693025
Retinal Diseases	Associate	32693025
Spastic Paraplegia Hereditary	Associate	26659848
Stomach Neoplasms	Associate	26098774, 29339121, 30644437
Syndrome	Associate	35904125
Triple Negative Breast Neoplasms	Associate	22140552, 37352040
Uterine Cervical Neoplasms	Associate	39312367

MORC2 (MORC family CW-type zinc finger 2)