ZNF185

protein-coding

zinc finger protein 185 with LIM domain, the group of LIM domain containing

Gene summary

Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a LIM-domain zinc finger protein. The LIM domain is composed of two contiguous zinc finger domains, separated by a two-amino acid residue hydrophobic linker. The LIM domain mediates protein:protein interactions. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010]

MANE transcript

NM_001395254.1

Inheritance

—

ClinVar variants

U:159B:13

Top phenotype

Autism

gnomAD constraint

pLI —, LoF o/e 0.8

Max pathogenic AF

—

Genomic locus

chrX:152,898,067-152,973,481

External References & Databases

Ensembl (ENSG00000147394)

Transcript & Mutation Effects

hg38 • Region Span ~75.4 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 ZNF185 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 105

not providedTotal: 7

AutismTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001395254.1. 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			9 clinvar	4 clinvar	1 clinvar	14
missense			124 clinvar	8 clinvar		132
nonsense			6 clinvar			6
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			20 clinvar			20
Total	0	0	159	12	1	172

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 128 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001395254.1	RefSeq	NP_001382183.1	23	MANE Select
ENST00000695776.1	Ensembl	ENSP00000512166.1	23	MANE Select
NM_001178106.1	RefSeq	NP_001171577.1	23	Standard
NM_001178107.1	RefSeq	NP_001171578.1	22	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
znf185	Danio rerio	Structure: pericardium Quality: edematous abnormal

Gene / Model

Organism

Observed Phenotype

znf185

Danio rerio

Structure: pericardium

Quality: edematous

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

zinc ion binding
actin filament binding

Cellular Component

cytoplasm
focal adhesion
actin cytoskeleton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000535861
Coding exons: 23
Length: 59039
Individuals with no LoFs: 124596
Homozygous LoFs: 14
Heterozygous LoFs: 36
Defined: 124646
p: 0.000201

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.137	279	286	0.977	0.0000235	4646
Missense (PolyPhen)		62	66.305	0.93507		1227
Synonymous	-0.211	111	108	1.03	0.00000924	1425
Loss of Function	0.984	22	27.6	0.798	0.00000205	495

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0023	0.0017	notable
Latino/Admixed American	0.00024	0.00017	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000074	0.000056	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00013	0.000088	rare
South Asian	0.00039	0.00023	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in the regulation of cellular proliferation and/or differentiation.;

Intolerance Scores

LoFtool: 0.269
RVIS EVS: 0.11
RVIS percentile EVS: 62

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.243

Gene Damage Prediction

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