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Protein

MORC family CW-type zinc finger protein 2

Gene

MORC2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Exhibits a cytosolic function in lipogenesis, adipogenic differentiation, and lipid homeostasis by increasing the activity of ACLY, possibly preventing its dephosphorylation (PubMed:24286864). May act as a transcriptional repressor (PubMed:20225202). Down-regulates CA9 expression (PubMed:20110259).3 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri490 – 544CW-typePROSITE-ProRule annotationAdd BLAST55

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Fatty acid metabolism, Lipid metabolism

Keywords - Ligandi

Metal-binding, Zinc

Enzyme and pathway databases

BioCyciZFISH:ENSG00000133422-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
MORC family CW-type zinc finger protein 2
Alternative name(s):
Zinc finger CW-type coiled-coil domain protein 1
Gene namesi
Name:MORC2
Synonyms:KIAA0852, ZCWCC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 22

Organism-specific databases

HGNCiHGNC:23573. MORC2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

Charcot-Marie-Tooth disease 2Z (CMT2Z)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant, axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
See also OMIM:616688
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07645487S → L in CMT2Z. 1 Publication1
Natural variantiVAR_07645596Q → E in CMT2Z; unknown pathological significance. 1 PublicationCorresponds to variant rs749060708dbSNPEnsembl.1
Natural variantiVAR_076456236E → G in CMT2Z. 1 Publication1
Natural variantiVAR_076458252R → W in CMT2Z. 2 Publications1
Natural variantiVAR_076460444G → R in CMT2Z; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Charcot-Marie-Tooth disease, Disease mutation, Neurodegeneration, Neuropathy

Organism-specific databases

MIMi616688. phenotype.
OpenTargetsiENSG00000133422.
PharmGKBiPA134986990.

Polymorphism and mutation databases

BioMutaiMORC2.
DMDMi114152840.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000965372 – 1032MORC family CW-type zinc finger protein 2Add BLAST1031

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei582PhosphothreonineCombined sources1
Modified residuei602PhosphoserineCombined sources1
Modified residuei615PhosphoserineCombined sources1
Modified residuei696PhosphoserineCombined sources1
Modified residuei705PhosphoserineCombined sources1
Modified residuei725PhosphoserineCombined sources1
Modified residuei730PhosphoserineCombined sources1
Modified residuei733PhosphothreonineCombined sources1
Modified residuei739PhosphoserineCombined sources1
Modified residuei743PhosphoserineCombined sources1
Cross-linki767Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei777PhosphoserineCombined sources1
Modified residuei779PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9Y6X9.
PaxDbiQ9Y6X9.
PeptideAtlasiQ9Y6X9.
PRIDEiQ9Y6X9.

PTM databases

iPTMnetiQ9Y6X9.
PhosphoSitePlusiQ9Y6X9.

Expressioni

Tissue specificityi

Highly expressed in smooth muscle, pancreas and testis.

Gene expression databases

BgeeiENSG00000133422.
CleanExiHS_MORC2.
ExpressionAtlasiQ9Y6X9. baseline and differential.
GenevisibleiQ9Y6X9. HS.

Organism-specific databases

HPAiHPA000436.

Interactioni

Subunit structurei

Interacts with HDAC4 (PubMed:20110259). Interacts with ACLY (PubMed:24286864).2 Publications

Protein-protein interaction databases

BioGridi116547. 14 interactors.
IntActiQ9Y6X9. 5 interactors.
MINTiMINT-4995722.
STRINGi9606.ENSP00000215862.

Structurei

3D structure databases

ProteinModelPortaliQ9Y6X9.
SMRiQ9Y6X9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili282 – 362Sequence analysisAdd BLAST81
Coiled coili547 – 584Sequence analysisAdd BLAST38
Coiled coili741 – 761Sequence analysisAdd BLAST21
Coiled coili966 – 1016Sequence analysisAdd BLAST51

Sequence similaritiesi

Contains 1 CW-type zinc finger.PROSITE-ProRule annotation

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri490 – 544CW-typePROSITE-ProRule annotationAdd BLAST55

Keywords - Domaini

Coiled coil, Zinc-finger

Phylogenomic databases

eggNOGiKOG1845. Eukaryota.
ENOG411033B. LUCA.
GeneTreeiENSGT00530000062983.
HOGENOMiHOG000060084.
HOVERGENiHBG056877.
InParanoidiQ9Y6X9.
OMAiRNCLRYF.
OrthoDBiEOG091G02B6.
PhylomeDBiQ9Y6X9.
TreeFamiTF329118.

Family and domain databases

Gene3Di3.30.565.10. 2 hits.
InterProiIPR003594. HATPase_C.
IPR011124. Znf_CW.
[Graphical view]
PfamiPF07496. zf-CW. 1 hit.
[Graphical view]
SUPFAMiSSF55874. SSF55874. 2 hits.
PROSITEiPS51050. ZF_CW. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y6X9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAFTNYSSLN RAQLTFEYLH TNSTTHEFLF GALAELVDNA RDADATRIDI
60 70 80 90 100
YAERREDLRG GFMLCFLDDG AGMDPSDAAS VIQFGKSAKR TPESTQIGQY
110 120 130 140 150
GNGLKSGSMR IGKDFILFTK KEDTMTCLFL SRTFHEEEGI DEVIVPLPTW
160 170 180 190 200
NARTREPVTD NVEKFAIETE LIYKYSPFRT EEEVMTQFMK IPGDSGTLVI
210 220 230 240 250
IFNLKLMDNG EPELDIISNP RDIQMAETSP EGTKPERRSF RAYAAVLYID
260 270 280 290 300
PRMRIFIHGH KVQTKRLSCC LYKPRMYKYT SSRFKTRAEQ EVKKAEHVAR
310 320 330 340 350
IAEEKAREAE SKARTLEVRL GGDLTRDSRV MLRQVQNRAI TLRREADVKK
360 370 380 390 400
RIKEAKQRAL KEPKELNFVF GVNIEHRDLD GMFIYNCSRL IKMYEKVGPQ
410 420 430 440 450
LEGGMACGGV VGVVDVPYLV LEPTHNKQDF ADAKEYRHLL RAMGEHLAQY
460 470 480 490 500
WKDIAIAQRG IIKFWDEFGY LSANWNQPPS SELRYKRRRA MEIPTTIQCD
510 520 530 540 550
LCLKWRTLPF QLSSVEKDYP DTWVCSMNPD PEQDRCEASE QKQKVPLGTF
560 570 580 590 600
RKDMKTQEEK QKQLTEKIRQ QQEKLEALQK TTPIRSQADL KKLPLEVTTR
610 620 630 640 650
PSTEEPVRRP QRPRSPPLPA VIRNAPSRPP SLPTPRPASQ PRKAPVISST
660 670 680 690 700
PKLPALAARE EASTSRLLQP PEAPRKPANT LVKTASRPAP LVQQLSPSLL
710 720 730 740 750
PNSKSPREVP SPKVIKTPVV KKTESPIKLS PATPSRKRSV AVSDEEEVEE
760 770 780 790 800
EAERRKERCK RGRFVVKEEK KDSNELSDSA GEEDSADLKR AQKDKGLHVE
810 820 830 840 850
VRVNREWYTG RVTAVEVGKH VVRWKVKFDY VPTDTTPRDR WVEKGSEDVR
860 870 880 890 900
LMKPPSPEHQ SLDTQQEGGE EEVGPVAQQA IAVAEPSTSE CLRIEPDTTA
910 920 930 940 950
LSTNHETIDL LVQILRNCLR YFLPPSFPIS KKQLSAMNSD ELISFPLKEY
960 970 980 990 1000
FKQYEVGLQN LCNSYQSRAD SRAKASEESL RTSERKLRET EEKLQKLRTN
1010 1020 1030
IVALLQKVQE DIDINTDDEL DAYIEDLITK GD
Note: No experimental confirmation available.
Length:1,032
Mass (Da):117,823
Last modified:September 5, 2006 - v2
Checksum:i7BEFA46E4150ABF5
GO
Isoform 2 (identifier: Q9Y6X9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-62: Missing.

Note: No experimental confirmation available.
Show »
Length:970
Mass (Da):110,724
Checksum:i459161807B8B53F6
GO

Sequence cautioni

The sequence AAC12954 differs from that shown. Reason: Erroneous gene model prediction.Curated
The sequence BAA74875 differs from that shown. Intron retention.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07645487S → L in CMT2Z. 1 Publication1
Natural variantiVAR_07645596Q → E in CMT2Z; unknown pathological significance. 1 PublicationCorresponds to variant rs749060708dbSNPEnsembl.1
Natural variantiVAR_076456236E → G in CMT2Z. 1 Publication1
Natural variantiVAR_076457248Y → C.1 Publication1
Natural variantiVAR_076458252R → W in CMT2Z. 2 Publications1
Natural variantiVAR_076459283R → H.1 Publication1
Natural variantiVAR_076460444G → R in CMT2Z; unknown pathological significance. 1 Publication1
Natural variantiVAR_076461466D → H.1 Publication1
Natural variantiVAR_076462585R → C.1 PublicationCorresponds to variant rs548292999dbSNPEnsembl.1
Natural variantiVAR_076463757E → G.1 PublicationCorresponds to variant rs774444542dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0417591 – 62Missing in isoform 2. 2 PublicationsAdd BLAST62

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB020659 mRNA. Translation: BAA74875.2. Sequence problems.
CR456469 mRNA. Translation: CAG30355.1.
AC004542 Genomic DNA. Translation: AAC12954.1. Sequence problems.
AL133637 mRNA. Translation: CAB63760.1.
CH471095 Genomic DNA. Translation: EAW59921.1.
BC019257 mRNA. Translation: AAH19257.3.
BC136782 mRNA. Translation: AAI36783.1.
CCDSiCCDS33636.1. [Q9Y6X9-2]
CCDS77668.1. [Q9Y6X9-1]
PIRiT02436.
T43455.
RefSeqiNP_001290185.1. NM_001303256.2. [Q9Y6X9-1]
NP_001290186.1. NM_001303257.2.
NP_055756.1. NM_014941.3. [Q9Y6X9-2]
XP_016884157.1. XM_017028668.1. [Q9Y6X9-2]
UniGeneiHs.555918.
Hs.707161.

Genome annotation databases

EnsembliENST00000215862; ENSP00000215862; ENSG00000133422. [Q9Y6X9-2]
ENST00000397641; ENSP00000380763; ENSG00000133422. [Q9Y6X9-1]
GeneIDi22880.
KEGGihsa:22880.
UCSCiuc003aje.2. human. [Q9Y6X9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB020659 mRNA. Translation: BAA74875.2. Sequence problems.
CR456469 mRNA. Translation: CAG30355.1.
AC004542 Genomic DNA. Translation: AAC12954.1. Sequence problems.
AL133637 mRNA. Translation: CAB63760.1.
CH471095 Genomic DNA. Translation: EAW59921.1.
BC019257 mRNA. Translation: AAH19257.3.
BC136782 mRNA. Translation: AAI36783.1.
CCDSiCCDS33636.1. [Q9Y6X9-2]
CCDS77668.1. [Q9Y6X9-1]
PIRiT02436.
T43455.
RefSeqiNP_001290185.1. NM_001303256.2. [Q9Y6X9-1]
NP_001290186.1. NM_001303257.2.
NP_055756.1. NM_014941.3. [Q9Y6X9-2]
XP_016884157.1. XM_017028668.1. [Q9Y6X9-2]
UniGeneiHs.555918.
Hs.707161.

3D structure databases

ProteinModelPortaliQ9Y6X9.
SMRiQ9Y6X9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116547. 14 interactors.
IntActiQ9Y6X9. 5 interactors.
MINTiMINT-4995722.
STRINGi9606.ENSP00000215862.

PTM databases

iPTMnetiQ9Y6X9.
PhosphoSitePlusiQ9Y6X9.

Polymorphism and mutation databases

BioMutaiMORC2.
DMDMi114152840.

Proteomic databases

EPDiQ9Y6X9.
PaxDbiQ9Y6X9.
PeptideAtlasiQ9Y6X9.
PRIDEiQ9Y6X9.

Protocols and materials databases

DNASUi22880.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000215862; ENSP00000215862; ENSG00000133422. [Q9Y6X9-2]
ENST00000397641; ENSP00000380763; ENSG00000133422. [Q9Y6X9-1]
GeneIDi22880.
KEGGihsa:22880.
UCSCiuc003aje.2. human. [Q9Y6X9-1]

Organism-specific databases

CTDi22880.
GeneCardsiMORC2.
HGNCiHGNC:23573. MORC2.
HPAiHPA000436.
MIMi616661. gene.
616688. phenotype.
neXtProtiNX_Q9Y6X9.
OpenTargetsiENSG00000133422.
PharmGKBiPA134986990.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1845. Eukaryota.
ENOG411033B. LUCA.
GeneTreeiENSGT00530000062983.
HOGENOMiHOG000060084.
HOVERGENiHBG056877.
InParanoidiQ9Y6X9.
OMAiRNCLRYF.
OrthoDBiEOG091G02B6.
PhylomeDBiQ9Y6X9.
TreeFamiTF329118.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000133422-MONOMER.

Miscellaneous databases

GeneWikiiMORC2.
GenomeRNAii22880.
PROiQ9Y6X9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000133422.
CleanExiHS_MORC2.
ExpressionAtlasiQ9Y6X9. baseline and differential.
GenevisibleiQ9Y6X9. HS.

Family and domain databases

Gene3Di3.30.565.10. 2 hits.
InterProiIPR003594. HATPase_C.
IPR011124. Znf_CW.
[Graphical view]
PfamiPF07496. zf-CW. 1 hit.
[Graphical view]
SUPFAMiSSF55874. SSF55874. 2 hits.
PROSITEiPS51050. ZF_CW. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMORC2_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6X9
Secondary accession number(s): B2RNB1, Q9UF28, Q9Y6V2
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 26, 2002
Last sequence update: September 5, 2006
Last modified: November 2, 2016
This is version 146 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.