ZMYND19

Chr 9

zinc finger MYND-type containing 19

Also known as: MIZIP

NCBI Gene: 116225 ENSG00000165724 UniProt: Q96E35 OMIM: 611424

The ZMYND19 protein contains a MYND zinc finger domain and binds to melanin-concentrating hormone receptor-1 as well as alpha- and beta-tubulin, potentially serving as a regulatory molecule in MCH receptor signaling. Mutations cause autosomal recessive intellectual disability with neurological features. The gene is highly constrained against loss-of-function variants, indicating its essential role in normal development.

OMIM ResearchSummary from RefSeq, UniProt

ZMYND19 is a MYND zinc finger domain-containing protein that binds to the C terminus of melanin-concentrating hormone receptor-1 (MCHR1; MIM 601751) (Bachner et al., 2002 [PubMed 12208518]), and to the N termini of alpha-tubulin (TUBA1; MIM 191110), and beta-tubulin (TUBB; MIM 191130) (Francke et al., 2005 [PubMed 16039987]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.34

Clinical Summary— ZMYND19

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.95). One damaged copy is likely sufficient to cause disease.

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ClinVar Variants

24 VUS of 34 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.34LOEUF

pLI 0.952

Z-score 3.21

OE 0.07 (0.03–0.34)

Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?

1.56Z-score

OE missense 0.62 (0.52–0.75)

84 obs / 134.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.07 (0.03–0.34)

0≤0.351.4

Missense OE?0.62 (0.52–0.75)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 1 / 13.9Missense obs/exp: 84 / 134.9Syn Z: -0.12

ClinVar Variant Classifications

34 submitted variants in ClinVar

ClinVar

Classification Summary

VUS24

Benign3

VUS

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	24	0	0	24
Likely Benign	0	0	0	0
Benign	0	1	2	3
Total	24	1	2	27

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

139 pathogenic / likely-pathogenic (of 155) ClinVar copy-number / structural variants overlap ZMYND19 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →