MORC4

protein-coding

MORC family CW-type zinc finger 4, the group of Zinc fingers CW-type

Gene summary

In human, the four current members of the microrchidia (morc) gene family share an N-terminal ATPase-like ATP-binding region and a CW four-cysteine zinc-finger motif. The protein encoded by this gene also has a nuclear matrix binding domain and a two-stranded coiled-coil motif near its C-terminus. This gene is widely expressed at low levels in normal tissues and has elevated expression in placenta and testis. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]

Previous symbols:

ZCWCC2

MANE transcript

NM_024657.5

Inheritance

—

ClinVar variants

U:292B:7

Top phenotype

Short 5th metacarpal

gnomAD constraint

pLI —, LoF o/e 0.1

Max pathogenic AF

—

Genomic locus

chrX:106,813,871-107,000,212

External References & Databases

Ensembl (ENSG00000133131)

Transcript & Mutation Effects

hg38 • Region Span ~186.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MORC4 variants in ClinVar

7 Conditions Cataloged

not specifiedTotal: 92

not providedTotal: 3

Short 5th metacarpalTotal: 1

Moderate intellectual disabilityTotal: 1

ClinodactylyTotal: 1

Abnormality of the faceTotal: 1

MacrocephalyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024657.5. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			32 clinvar	1 clinvar	1 clinvar	34
missense			203 clinvar	4 clinvar	1 clinvar	208
nonsense			16 clinvar			16
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			41 clinvar			41
Total	0	0	292	5	2	299

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024657.5	RefSeq	NP_078933.3	17	MANE Select
ENST00000355610.9	Ensembl	ENSP00000347821.4	17	MANE Select
NM_001085354.3	RefSeq	NP_001078823.1	17	Standard
ENST00000255495.7	Ensembl	ENSP00000255495.7	17	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding
zinc ion binding

Cellular Component

nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000355610
Coding exons: 17
Length: 186374
Individuals with no LoFs: 125732
Homozygous LoFs: 3
Heterozygous LoFs: 5
Defined: 125740
p: 0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.36	260	330	0.789	0.0000242	6156
Missense (PolyPhen)		64	112.42	0.56931		2115
Synonymous	-0.898	130	118	1.11	0.00000845	1776
Loss of Function	4.68	3	31.2	0.0963	0.00000237	578

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00015	0.00012	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000073	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000049	0.000035	rare
South Asian	0	0.0	absent
Other	0.00023	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0830

Intolerance Scores

LoFtool: 0.392
RVIS EVS: -0.36
RVIS percentile EVS: 29.31

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.143

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium