U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

HECTD4 HECT domain E3 ubiquitin protein ligase 4 [ Homo sapiens (human) ]

Gene ID: 283450, updated on 2-Nov-2024

Summary

Go to the top of the page Help
Official Symbol
HECTD4provided by HGNC
Official Full Name
HECT domain E3 ubiquitin protein ligase 4provided by HGNC
Primary source
HGNC:HGNC:26611
See related
Ensembl:ENSG00000173064 MIM:620209; AllianceGenome:HGNC:26611
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
Also known as
HEEL; POTAGE; NEDSSCC; C12ord51; C12orf51
Summary
Predicted to enable ubiquitin-protein transferase activity. Involved in glucose homeostasis and glucose metabolic process. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in brain (RPKM 8.7), bone marrow (RPKM 7.2) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See HECTD4 in Genome Data Viewer
Location:
12q24.13
Exon count:
76
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (112160195..112382431, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (112137101..112359329, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (112597999..112820235, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903022 Neighboring gene N-alpha-acetyltransferase 25, NatB auxiliary subunit Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112540436-112540936 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112544255-112544756 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4880 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4881 Neighboring gene Sharpr-MPRA regulatory region 5940 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7045 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7046 Neighboring gene TRAF-type zinc finger domain containing 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112603752-112604358 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112616819-112617320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112617321-112617820 Neighboring gene Sharpr-MPRA regulatory region 5198 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112622367-112622936 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112621798-112622366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112630491-112630990 Neighboring gene microRNA 6861 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4882 Neighboring gene RN7SK pseudogene 71 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7047 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7048 Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 2 pseudogene Neighboring gene ribosomal protein L7a pseudogene 60 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112818193-112818693 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4883 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:112819879-112820378 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7049 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112855308-112855956 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112855957-112856604 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:112856605-112857252 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:112876497-112876700 Neighboring gene uncharacterized LOC124903023 Neighboring gene ribosomal protein L6 Neighboring gene protein tyrosine phosphatase non-receptor type 11

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans. Cha S, et al. PLoS One, 2015. PMID 26675016, Free PMC Article
  2. Genetic variation in C12orf51 is associated with prognosis of intestinal-type gastric cancer in a Chinese population. Zhang G, et al. Biomed Pharmacother, 2015 Feb. PMID 25661349
  3. Identification of a novel gene by whole human genome tiling array. Ishida H, et al. Gene, 2013 Mar 1. PMID 23261826
  4. Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome. Faqeih EA, et al. Genet Med, 2023 Feb. PMID 36401616
  5. A Genome-Wide Association Study of a Korean Population Identifies Genetic Susceptibility to Hypertension Based on Sex-Specific Differences. Cho SB, et al. Genes (Basel), 2021 Nov 16. PMID 34828409, Free PMC Article

See all (44) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
    Title: Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
  2. A Genome-Wide Association Study of a Korean Population Identifies Genetic Susceptibility to Hypertension Based on Sex-Specific Differences.
    Title: A Genome-Wide Association Study of a Korean Population Identifies Genetic Susceptibility to Hypertension Based on Sex-Specific Differences.
  3. This exome-wide association study indicated that C12orf51 rs11066280, MYL2 rs12229654, and ALDH2 rs671 polymorphisms are linked to blood Pb levels in the Korean population.
    Title: Exome-wide association study identifies genetic polymorphisms of C12orf51, MYL2, and ALDH2 associated with blood lead levels in the general Korean population.
  4. SNPs in the HECTD4 gene is associated with decreased thoracic-to-hip circumference ratio in male Koreans.
    Title: A Genome-Wide Association Study Uncovers a Genetic Locus Associated with Thoracic-to-Hip Ratio in Koreans.
  5. There was no significant association between C12orf51 rs11066280 and survival of gastric cancer.
    Title: Genetic variation in C12orf51 is associated with prognosis of intestinal-type gastric cancer in a Chinese population.
  6. Newly implicated variants (MYL2, C12orf51 and OAS1) were found to be significantly associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes.
    Title: New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.
  7. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum
MedGen: C5830296 OMIM: 620250 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.
EBI GWAS Catalog
Common variants at 12q24 are associated with drinking behavior in Han Chinese.
EBI GWAS Catalog
Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.
EBI GWAS Catalog
Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.
EBI GWAS Catalog
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
EBI GWAS Catalog
Genome-wide association study in Han Chinese identifies four new susceptibility loci for coronary artery disease.
EBI GWAS Catalog
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
EBI GWAS Catalog
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
EBI GWAS Catalog
New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • FLJ10510, FLJ30092, FLJ30208, FLJ34154, KIAA0614, MGC126531, DKFZp586O1022

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables ubiquitin-protein transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in glucose homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in glucose homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glucose metabolic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in protein ubiquitination IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

Go to the top of the page Help
Preferred Names
probable E3 ubiquitin-protein ligase HECTD4
Names
AF-1 specific protein phosphatase
HECT domain containing E3 ubiquitin protein ligase 4
HECT domain-containing protein 4
HECT-type E3 ubiquitin transferase HECTD4
probable E3 ubiquitin-protein ligase C12orf51
transmembrane protein C12orf51
NP_001103132.4
NP_001375232.1

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001109662.4 → NP_001103132.4  probable E3 ubiquitin-protein ligase HECTD4 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC004031, AC004086, AC004217, AC073575
    UniProtKB/TrEMBL
    J3KPF0
    Related
    ENSP00000449784.2, ENST00000550722.5

  2. NM_001388303.1 → NP_001375232.1  probable E3 ubiquitin-protein ligase HECTD4 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC004031, AC004086, AC004217, AC073575
    Consensus CDS
    CCDS91751.1
    UniProtKB/TrEMBL
    A0A804HJX8, J3KPF0
    Related
    ENSP00000507687.1, ENST00000682272.1
    Conserved Domains (2) summary
    cd00078
    Location:4019 → 4413
    HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
    cd13735
    Location:2399 → 2554
    SPRY_HECT_like; SPRY domain in HECT E3

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_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    112160195..112382431 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    112137101..112359329 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_173813.2: Suppressed sequence

    Description
    NM_173813.2: This RefSeq was suppressed because it appears to represent a partial coding sequence compared to the mouse predicted model XM_990451.2.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y4D8.5 GenPept UniProtKB/Swiss-Prot:Q9Y4D8

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools