ZMYND10 zinc finger MYND-type containing 10 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ZMYND10provided by HGNC
Official Full Name: zinc finger MYND-type containing 10provided by HGNC
Primary source: HGNC:HGNC:19412
See related: Ensembl:ENSG00000004838 MIM:607070; AllianceGenome:HGNC:19412
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BLU; FLU; CILD22; DNAAF7
Summary: This gene encodes a protein containing a MYND-type zinc finger domain that likely functions in assembly of the dynein motor. Mutations in this gene can cause primary ciliary dyskinesia. This gene is also considered a tumor suppressor gene and is often mutated, deleted, or hypermethylated and silenced in cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Expression: Restricted expression toward testis (RPKM 91.8) See more
Orthologs: mouse all
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Genomic context

Location:: 3p21.31

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (50341112..50345732, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (50370836..50375456, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (50378543..50383163, complement)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Study identified ZMYND10 as a tumor suppressor, which is downregulated in breast cancer due to its promoter hypermethylation, and suggested that ZMYND10 suppresses breast cancer metastasis by through the miR145-5p/NEDD9 signaling cascade.
Title: ZMYND10, an epigenetically regulated tumor suppressor, exerts tumor-suppressive functions via miR145-5p/NEDD9 axis in breast cancer.
BLU suppressed tumor formation by strengthening the antitumor immunity.
Title: Tumor suppressor BLU promotes TRAIL-induced apoptosis by downregulating NF-κB signaling in nasopharyngeal carcinoma.
A novel frameshift mutation (c.367delC) in ZMYND10, unique for Slavic primary ciliary dyskinesia population (PCD), was found in homozygous state in two unrelated PCD patients.
Title: ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia.
Data identified a novel functional BLU promoter that was regulated by Sp1. Furthermore, the hypermethylated -39 CpG in BLU proximal promoter directly reduced its binding with Sp1.
Title: Inactivation of BLU is associated with methylation of Sp1-binding site of BLU promoter in gastric cancer.
Data show that the zinc finger MYND-type containing 10 protein BLU gene may be one of the key components of signaling networks controlling tumor microenvironment and angiogenesis.
Title: Anti-angiogenic pathway associations of the 3p21.3 mapped BLU gene in nasopharyngeal carcinoma.
Mutations in ZMYND10 cause primary ciliary dyskinesia.
Title: Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
Title: ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
Methylation of BLU could be a potential prognostic biomarker for advanced ovarian serous carcinoma
Title: Epigenetic silencing of BLU through interfering apoptosis results in chemoresistance and poor prognosis of ovarian serous carcinoma patients.
Data indicate that BLU could suppress the growth of ovarian carcinoma cells through down-regulation of Bcl-2 protein.
Title: Tumor suppressor BLU promotes paclitaxel antitumor activity by inducing apoptosis through the down-regulation of Bcl-2 expression in tumorigenesis.
these data indicated that methylation of the BLU promoter region is an early event during hepatocellular carcinoma development.
Title: Loss of heterozygosity and methylation of multiple tumor suppressor genes on chromosome 3 in hepatocellular carcinoma.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Primary ciliary dyskinesia 22 MedGen: C3809543 OMIM: 615444 GeneReviews: Primary Ciliary Dyskinesia	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables molecular adaptor activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein folding chaperone	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cilium movement	IEA Inferred from Electronic Annotation more info
involved_in inner dynein arm assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in inner dynein arm assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in inner dynein arm assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outer dynein arm assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in outer dynein arm assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in outer dynein arm assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of motile cilium assembly	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein folding	IEA Inferred from Electronic Annotation more info
involved_in protein localization to cilium	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
is_active_in centriolar satellite	IBA Inferred from Biological aspect of Ancestor more info
located_in centriolar satellite	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info
located_in dynein axonemal particle	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: zinc finger MYND domain-containing protein 10

Names: Ciliary dyskinesia, primary, 22; dynein axonemal assembly factor 7; protein BLu; tumor suppressor BLU

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_042828.1 RefSeqGene

Range

5015..9635

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001308379.2 → NP_001295308.1 zinc finger MYND domain-containing protein 10 isoform 2

See identical proteins and their annotated locations for NP_001295308.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is shorter, compared to isoform 1.

Source sequence(s)

BE500984, DB036846, U70880

Consensus CDS

CCDS77747.1

UniProtKB/Swiss-Prot

O75800

Related

ENSP00000353289.3, ENST00000360165.7

Conserved Domains (1) summary

pfam01753
Location:389 → 425

zf-MYND; MYND finger
NM_015896.4 → NP_056980.2 zinc finger MYND domain-containing protein 10 isoform 1

See identical proteins and their annotated locations for NP_056980.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK315123, BC022186, DB036846

Consensus CDS

CCDS2825.1

UniProtKB/Swiss-Prot

A6NK41, B3KU54, O14570, O75800, O75801, Q53FE6, Q8N4R6, Q8NDN6

Related

ENSP00000231749.3, ENST00000231749.8

Conserved Domains (1) summary

pfam01753
Location:394 → 430

zf-MYND; MYND finger

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

50341112..50345732 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005265216.4 → XP_005265273.1 zinc finger MYND domain-containing protein 10 isoform X1

Conserved Domains (1) summary

pfam01753
Location:315 → 351

zf-MYND; MYND finger