Gene Gene information from NCBI Gene database.
Entrez ID 51114
Gene name ZDHHC palmitoyltransferase 9
Gene symbol ZDHHC9
Synonyms (NCBI Gene)
CGI89CXorf11DHHC9MMSA1MRXSRMRXSZZDHHC10ZNF379ZNF380
Chromosome X
Chromosome location Xq26.1
Summary This gene encodes an integral membrane protein that is a member of the zinc finger DHHC domain-containing protein family. The encoded protein forms a complex with golgin subfamily A member 7 and functions as a palmitoyltransferase. This protein specifical
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs137852214 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs137852215 G>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs606231182 AGCG>- Pathogenic Non coding transcript variant, frameshift variant, coding sequence variant
rs606231183 C>G Pathogenic Intron variant
rs1064793355 A>G Likely-pathogenic Missense variant, coding sequence variant, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
707
miRTarBase ID miRNA Experiments Reference
MIRT045775 hsa-miR-125a-5p CLASH 23622248
MIRT038235 hsa-miR-330-5p CLASH 23622248
MIRT438628 hsa-miR-134-5p Luciferase reporter assay 24127608
MIRT438628 hsa-miR-134-5p Luciferase reporter assay 24127608
MIRT438628 hsa-miR-134-5p Luciferase reporter assay 24127608
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IDA 16000296
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0000165 Process MAPK cascade TAS
GO:0002178 Component Palmitoyltransferase complex IDA 16000296
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300646 18475 ENSG00000188706
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y397
Protein name Palmitoyltransferase ZDHHC9 (EC 2.3.1.225) (Zinc finger DHHC domain-containing protein 9) (DHHC-9) (DHHC9) (Zinc finger protein 379) (Zinc finger protein 380)
Protein function Palmitoyltransferase that catalyzes the addition of palmitate onto various protein substrates, such as ADRB2, GSDMD, HRAS, NRAS and CGAS (PubMed:16000296, PubMed:27481942, PubMed:37802025, PubMed:38530158, PubMed:38599239). The ZDHHC9-GOLGA7 com
PDB 8HF3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01529 DHHC 134 263 DHHC palmitoyltransferase Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in kidney, skeletal muscle, brain, lung and liver. Absent in thymus, spleen and leukocytes. {ECO:0000269|PubMed:16000296}.
Sequence
MSVMVVRKKVTRKWEKLPGRNTFCCDGRVMMARQKGIFYLTLFLILGTCTLFFAFECRYL
AVQLSPAIPVFAAMLFLFSMATLLRTSFSDPGVIPRALPDEAAFIEMEIEATNGAVPQGQ
RPPPRIKNFQINNQIVKLKYCYTCKIFRPPRASHCSICDNCVERFDHHCPWVGNCVGKRN
YRYFYLFILSLSLLTIYVFAFNIVYVALKSLKIGFLETLKETPGTVLEVLICFFTLWSVV
GLTGFHTFLVALNQTTNEDIKGS
WTGKNRVQNPYSHGNIVKNCCEVLCGPLPPSVLDRRG
ILPLEESGSRPPSTQETSSSLLPQSPAPTEHLNSNEMPEDSSTPEEMPPPEPPEPPQEAA
EAEK
Sequence length 364
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Intellectual disability Likely pathogenic; Pathogenic rs137852214, rs1927636898 RCV001260822
RCV001260845
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic X-linked intellectual disability Raymond type Likely pathogenic; Pathogenic rs2522218770, rs2522207283, rs2522181867, rs606231182, rs606231183, rs137852214, rs137852215, rs2522243863, rs1131690786, rs1569321518, rs1927638009 RCV002283354
RCV003047458
RCV003225255
RCV000011455
RCV000011456
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 17519897
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 17519897
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 29944857
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 29944857
★☆☆☆☆
Found in Text Mining only
Apraxias Apraxia Pubtator 27747153 Associate
★☆☆☆☆
Found in Text Mining only
Arachnodactyly Arachnodactyly HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★☆☆☆☆
Found in Text Mining only
Attention deficit hyperactivity disorder Attention Deficit Hyperactivity Disorder HPO_DG
★☆☆☆☆
Found in Text Mining only
Bone Diseases Bone Disease BEFREE 26493349
★☆☆☆☆
Found in Text Mining only
Brachycephaly Brachycephaly HPO_DG
★☆☆☆☆
Found in Text Mining only