ZNF385A

protein-coding

zinc finger protein 385A

Gene summary

Zinc finger proteins, such as ZNF385A, are regulatory proteins that act as transcription factors, bind single- or double-stranded RNA, or interact with other proteins (Sharma et al., 2004 [PubMed 15527981]).[supplied by OMIM, Oct 2008]

Previous symbols:

ZNF385

MANE transcript

NM_015481.3

Inheritance

—

ClinVar variants

U:35B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.24

Max pathogenic AF

—

Genomic locus

chr12:54,369,133-54,391,298

External References & Databases

Ensembl (ENSG00000161642)

Transcript & Mutation Effects

hg38 • Region Span ~22.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

Tourette syndromeNO_KNOWN

Inheritance Pattern: Unknown

Disease ID:MONDO:0007661

Submitter: Labcorp Genetics (formerly Invitae)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ZNF385A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 32

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015481.3. 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					1 clinvar	1
missense			35 clinvar	2 clinvar		37
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	35	2	1	38

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 59 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_015481.3	RefSeq	NP_056296.1	7	MANE Select
ENST00000394313.7	Ensembl	ENSP00000377849.2	7	MANE Select
NM_001130967.3	RefSeq	NP_001124439.1	8	Standard
NM_001130968.3	RefSeq	NP_001124440.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Regulation of TP53 Activity through Association with Co-factors
Gene expression (Transcription)
Generic Transcription Pathway
RNA Polymerase II Transcription
Transcriptional activation of cell cycle inhibitor p21

Biological Process

regulation of transcription by RNA polymerase II
apoptotic process
cellular response to DNA damage stimulus
DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
hemostasis

Molecular Function

DNA-binding transcription factor activity, RNA polymerase II-specific
p53 binding
DNA binding
RNA binding
mRNA 3'-UTR binding

Cellular Component

nuclear chromatin
nucleoplasm
nucleolus
cytoplasm
dendrite

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000338010
Coding exons: 8
Length: 22166
Individuals with no LoFs: 125733
Homozygous LoFs: 0
Heterozygous LoFs: 5
Defined: 125738
p: 0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.69	139	208	0.670	0.0000113	2404
Missense (PolyPhen)		50	94.022	0.53179		1147
Synonymous	1.04	74	86.3	0.858	0.00000458	862
Loss of Function	2.87	4	16.7	0.240	0.00000117	169

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000037	0.000035	rare
South Asian	0	0.0	absent
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: RNA-binding protein that affects the localization and the translation of a subset of mRNA. May play a role in adipogenesis through binding to the 3'-UTR of CEBPA mRNA and regulation of its translation. Targets ITPR1 mRNA to dendrites in Purkinje cells, and may regulate its activity-dependent translation. With ELAVL1, binds the 3'-UTR of p53/TP53 mRNAs to control their nuclear export induced by CDKN2A. Hence, may regulate p53/TP53 expression and mediate in part the CDKN2A anti- proliferative activity. May also bind CCNB1 mRNA. Alternatively, may also regulate p53/TP53 activity through direct protein-protein interaction. Interacts with p53/TP53 and promotes cell-cycle arrest over apoptosis enhancing preferentially the DNA binding and transactivation of p53/TP53 on cell-cycle arrest target genes over proapoptotic target genes. May also regulate the ubiquitination and stability of CDKN1A promoting DNA damage-induced cell cycle arrest. Also plays a role in megakaryocytes differentiation. {ECO:0000269|PubMed:17719541}.;

Recessive Scores

pRec: 0.112

Intolerance Scores

LoFtool: 0.328
RVIS EVS: -0.54
RVIS percentile EVS: 20.26

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.323

Gene Damage Prediction

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