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ZMYND12 zinc finger MYND-type containing 12 [ Homo sapiens (human) ]

Gene ID: 84217, updated on 27-Nov-2024

Summary

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Official Symbol
ZMYND12provided by HGNC
Official Full Name
zinc finger MYND-type containing 12provided by HGNC
Primary source
HGNC:HGNC:21192
See related
Ensembl:ENSG00000066185 AllianceGenome:HGNC:21192
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Predicted to enable metal ion binding activity. Involved in sperm axoneme assembly. Located in sperm flagellum. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 21.0), kidney (RPKM 3.5) and 7 other tissues See more
Orthologs
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Genomic context

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See ZMYND12 in Genome Data Viewer
Location:
1p34.2
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (42430329..42456022, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (42300691..42326384, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (42896000..42921693, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 10195 Neighboring gene forkhead box J3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 757 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:42799881-42800838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 759 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 761 Neighboring gene ribosomal modification protein rimK like family member A Neighboring gene ribosomal protein S15a pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 762 Neighboring gene coiled-coil domain containing 30 Neighboring gene phosphopantothenoylcysteine synthetase Neighboring gene RPS3A pseudogene 11

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: 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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Related articles in PubMed

  1. Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function. Dacheux D, et al. Elife, 2023 Nov 7. PMID 37934199, Free PMC Article
  2. Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. Simpson JC, et al. EMBO Rep, 2000 Sep. PMID 11256614, Free PMC Article
  3. Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. Wiemann S, et al. Genome Res, 2001 Mar. PMID 11230166, Free PMC Article
  4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
  5. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
    Title: Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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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Markers

Homology

Clone Names

  • DKFZp434N2435

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in sperm axoneme assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in sperm flagellum IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
zinc finger MYND domain-containing protein 12
Names
zinc finger, MYND domain containing 12

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.

mRNA and Protein(s)

  1. NM_001146192.2 → NP_001139664.1  zinc finger MYND domain-containing protein 12 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AK057384, AK301839, AL136858, BC024186, BQ441452
    UniProtKB/TrEMBL
    B4DX70
    Conserved Domains (2) summary
    sd00006
    Location:64 → 95
    TPR; TPR repeat [structural motif]
    pfam13424
    Location:64 → 133
    TPR_12; Tetratricopeptide repeat

  2. NM_032257.5 → NP_115633.3  zinc finger MYND domain-containing protein 12 isoform 1

    See identical proteins and their annotated locations for NP_115633.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK057384, AL136858, BC024186, BQ441452
    Consensus CDS
    CCDS467.1
    UniProtKB/Swiss-Prot
    Q5VUS6, Q8TC87, Q96M51, Q9H0C1
    Related
    ENSP00000361646.3, ENST00000372565.8
    Conserved Domains (3) summary
    sd00006
    Location:88 → 116
    TPR; TPR repeat [structural motif]
    pfam01753
    Location:17 → 54
    zf-MYND; MYND finger
    pfam13424
    Location:174 → 243
    TPR_12; Tetratricopeptide repeat

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

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    42430329..42456022 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    42300691..42326384 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H0C1.3 GenPept UniProtKB/Swiss-Prot:Q9H0C1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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