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SMYD4 SET and MYND domain containing 4 [ Homo sapiens (human) ]

Gene ID: 114826, updated on 29-Oct-2022

Summary

Official Symbol
SMYD4provided by HGNC
Official Full Name
SET and MYND domain containing 4provided by HGNC
Primary source
HGNC:HGNC:21067
See related
Ensembl:ENSG00000186532 MIM:619134; AllianceGenome:HGNC:21067
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
ZMYND21
Summary
Predicted to enable metal ion binding activity and methyltransferase activity. Involved in heart development. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary (RPKM 3.5), fat (RPKM 3.2) and 25 other tissues See more
Orthologs
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Genomic context

See SMYD4 in Genome Data Viewer
Location:
17p13.3
Exon count:
13
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (1779485..1829902, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (1668185..1718627, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1682779..1733196, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene serpin family F member 2 Neighboring gene serpin family F member 1 Neighboring gene Sharpr-MPRA regulatory region 4981 Neighboring gene replication protein A1 Neighboring gene succinate dehydrogenase complex subunit C pseudogene Neighboring gene reticulon 4 receptor like 1 Neighboring gene uncharacterized LOC105371486 Neighboring gene uncharacterized LOC105371485

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

Description
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1936

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables histone deacetylase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables methyltransferase activity IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in methylation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
SET and MYND domain-containing protein 4
NP_443160.2
XP_011521934.1
XP_011521935.1
XP_024306328.1
XP_047291246.1
XP_047291247.1

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_052928.3NP_443160.2  SET and MYND domain-containing protein 4

    See identical proteins and their annotated locations for NP_443160.2

    Status: VALIDATED

    Source sequence(s)
    AC130689, AK095369, AL137345, AV700545, BC035077, BM676597, CN352185, CR987176, DB219337
    Consensus CDS
    CCDS11013.1
    UniProtKB/Swiss-Prot
    Q8IYR2, Q96PV2
    Related
    ENSP00000304360.7, ENST00000305513.12
    Conserved Domains (5) summary
    sd00006
    Location:6896
    TPR; TPR repeat [structural motif]
    pfam00856
    Location:528574
    SET; SET domain
    pfam01753
    Location:296335
    zf-MYND; MYND finger
    pfam13424
    Location:660726
    TPR_12; Tetratricopeptide repeat
    cl26005
    Location:72237
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    1779485..1829902 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450560.2XP_024306328.1  SET and MYND domain-containing protein 4 isoform X1

    UniProtKB/Swiss-Prot
    Q96PV2
    Conserved Domains (5) summary
    sd00006
    Location:6896
    TPR; TPR repeat [structural motif]
    pfam00856
    Location:528574
    SET; SET domain
    pfam01753
    Location:296335
    zf-MYND; MYND finger
    pfam13424
    Location:660726
    TPR_12; Tetratricopeptide repeat
    cl26005
    Location:72237
    PLN03088; SGT1, suppressor of G2 allele of SKP1; Provisional
  2. XM_047435291.1XP_047291247.1  SET and MYND domain-containing protein 4 isoform X5

  3. XM_047435290.1XP_047291246.1  SET and MYND domain-containing protein 4 isoform X2

  4. XM_011523633.3XP_011521935.1  SET and MYND domain-containing protein 4 isoform X3

    Conserved Domains (4) summary
    sd00006
    Location:6896
    TPR; TPR repeat [structural motif]
    pfam00856
    Location:528574
    SET; SET domain
    pfam01753
    Location:296335
    zf-MYND; MYND finger
    pfam13414
    Location:68132
    TPR_11; TPR repeat
  5. XM_011523632.3XP_011521934.1  SET and MYND domain-containing protein 4 isoform X4

    Conserved Domains (4) summary
    sd00006
    Location:6896
    TPR; TPR repeat [structural motif]
    pfam00856
    Location:528574
    SET; SET domain
    pfam01753
    Location:296335
    zf-MYND; MYND finger
    pfam13414
    Location:68132
    TPR_11; TPR repeat

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    1668185..1718627 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)