The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bi... See more...

Aliases for HSD17B4 Gene

Aliases for HSD17B4 Gene

  • Hydroxysteroid 17-Beta Dehydrogenase 4 2 3 5
  • 17-Beta-Hydroxysteroid Dehydrogenase 4 2 3 4
  • 3-Alpha,7-Alpha,12-Alpha-Trihydroxy-5-Beta-Cholest-24-Enoyl-CoA Hydratase 2 3
  • Short Chain Dehydrogenase/Reductase Family 8C Member 1 3 4
  • Peroxisomal Multifunctional Enzyme Type 2 3 4
  • 17beta-Estradiol Dehydrogenase Type IV 2 3
  • Peroxisomal Multifunctional Protein 2 2 3
  • D-Bifunctional Protein, Peroxisomal 2 3
  • D-3-Hydroxyacyl-CoA Dehydratase 2 3
  • Beta-Hydroxyacyl Dehydrogenase 2 3
  • Multifunctional Protein 2 3 4
  • Beta-Keto-Reductase 2 3
  • 17-Beta-HSD IV 2 3
  • 17-Beta-HSD 4 3 4
  • SDR8C1 3 4
  • MFE-2 3 4
  • MPF-2 3 4
  • DBP 3 4
  • Short Chain Dehydrogenase/Reductase Family 8C, Member 1 2
  • Epididymis Secretory Sperm Binding Protein 3
  • Hydroxysteroid (17-Beta) Dehydrogenase 4 2
  • Hydroxysteroid Dehydrogenase 4 3
  • D-Bifunctional Protein 4
  • EDH17B4 4
  • PRLTS1 3

External Ids for HSD17B4 Gene

Previous GeneCards Identifiers for HSD17B4 Gene

  • GC05P118490
  • GC05P119186
  • GC05P118819
  • GC05P118864
  • GC05P118816
  • GC05P113983
  • GC05P118789

Summaries for HSD17B4 Gene

Entrez Gene Summary for HSD17B4 Gene

  • The protein encoded by this gene is a bifunctional enzyme that is involved in the peroxisomal beta-oxidation pathway for fatty acids. It also acts as a catalyst for the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids. Defects in this gene that affect the peroxisomal fatty acid beta-oxidation activity are a cause of D-bifunctional protein deficiency (DBPD). An apparent pseudogene of this gene is present on chromosome 8. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

GeneCards Summary for HSD17B4 Gene

HSD17B4 (Hydroxysteroid 17-Beta Dehydrogenase 4) is a Protein Coding gene. Diseases associated with HSD17B4 include D-Bifunctional Protein Deficiency and Perrault Syndrome 1. Among its related pathways are Peroxisomal lipid metabolism and alpha-linolenic acid (ALA) metabolism. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and oxidoreductase activity. An important paralog of this gene is HSD17B1.

UniProtKB/Swiss-Prot Summary for HSD17B4 Gene

  • Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids.

Gene Wiki entry for HSD17B4 Gene

Additional gene information for HSD17B4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HSD17B4 Gene

Genomics for HSD17B4 Gene

GeneHancer (GH) Regulatory Elements for HSD17B4 Gene

Promoters and enhancers for HSD17B4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J119451 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 762.1 +0.6 558 2.4 ZBTB40 SIX5 ZBTB6 RBPJ SMARCE1 POLR2A NR2F1 NR2F6 CREB1 HCFC1 HSD17B4 piR-46847-207 ENSG00000213663 FAM170A DMXL1 RF01210-312
GH05J119417 Promoter/Enhancer 1.3 EPDnew ENCODE dbSUPER 771.5 -33.0 -32987 3.5 SMARCE1 MYC HLF MAX DACH1 MNT TEAD4 ZC3H8 GTF2F1 MLLT1 HSD17B4 FAM170A DTWD2 piR-32985-023 piR-57133-490
GH05J119476 Promoter 0.4 EPDnew 750.3 +24.1 24113 0.1 EZH2 HSALNG0044402 HSD17B4 piR-35674-423
GH05J119410 Promoter/Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 11.2 -40.6 -40612 2 SIN3A CTCF ZBTB6 POLR2A CC2D1A ETV6 RAD21 MAFK MLLT1 PRDM1 TNFAIP8 DTWD2 ENSG00000250678 RNU6-373P HSD17B4 FAM170A DMXL1 piR-32985-023 piR-57133-490
GH05J119413 Enhancer 0.8 ENCODE dbSUPER 21.2 -38.1 -38097 1.1 ZNF24 CC2D1A MLLT1 ZNF687 IKZF1 CREB1 TRIM22 IKZF2 ATF7 SOX6 HSD17B4 DTWD2 piR-32985-023 piR-57133-490
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HSD17B4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HSD17B4 gene promoter:
  • AP-2rep
  • ER-alpha
  • p53
  • Pax-2
  • Pax-2a
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT1
  • TGIF

Genomic Locations for HSD17B4 Gene

Genomic Locations for HSD17B4 Gene
chr5:119,452,443-119,637,199
(GRCh38/hg38)
Size:
184,757 bases
Orientation:
Plus strand
chr5:118,788,138-118,972,894
(GRCh37/hg19)
Size:
184,757 bases
Orientation:
Plus strand

Genomic View for HSD17B4 Gene

Genes around HSD17B4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HSD17B4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HSD17B4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HSD17B4 Gene

Proteins for HSD17B4 Gene

  • Protein details for HSD17B4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P51659-DHB4_HUMAN
    Recommended name:
    Peroxisomal multifunctional enzyme type 2
    Protein Accession:
    P51659
    Secondary Accessions:
    • B4DNV1
    • B4DVS5
    • E9PB82
    • F5HE57

    Protein attributes for HSD17B4 Gene

    Size:
    736 amino acids
    Molecular mass:
    79686 Da
    Quaternary structure:
    • Homodimer.
    Miscellaneous:
    • The protein is found both as a full-length peptide and in a cleaved version.

    Three dimensional structures from OCA and Proteopedia for HSD17B4 Gene

    Alternative splice isoforms for HSD17B4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HSD17B4 Gene

Post-translational modifications for HSD17B4 Gene

  • Ubiquitination at Lys565
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for HSD17B4 Gene

Domains & Families for HSD17B4 Gene

Gene Families for HSD17B4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for HSD17B4 Gene

GenScript: Design optimal peptide antigens:
  • Multifunctional protein 2 (DHB4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P51659

UniProtKB/Swiss-Prot:

DHB4_HUMAN :
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
Family:
  • Belongs to the short-chain dehydrogenases/reductases (SDR) family.
genes like me logo Genes that share domains with HSD17B4: view

Function for HSD17B4 Gene

Molecular function for HSD17B4 Gene

UniProtKB/Swiss-Prot Function:
Bifunctional enzyme acting on the peroxisomal beta-oxidation pathway for fatty acids. Catalyzes the formation of 3-ketoacyl-CoA intermediates from both straight-chain and 2-methyl-branched-chain fatty acids.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a (3R)-hydroxyacyl-CoA + NAD(+) = a 3-oxoacyl-CoA + H(+) + NADH; Xref=Rhea:RHEA:32711, ChEBI:CHEBI:15378, ChEBI:CHEBI:57319, ChEBI:CHEBI:57540, ChEBI:CHEBI:57945, ChEBI:CHEBI:90726; EC=1.1.1.n12; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(24R,25R)-3alpha,7alpha,12alpha,24-tetrahydroxy-5beta-cholestan-26-oyl-CoA = (24E)-3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-en-26-oyl-CoA + H2O; Xref=Rhea:RHEA:18933, ChEBI:CHEBI:15377, ChEBI:CHEBI:59807, ChEBI:CHEBI:59879; EC=4.2.1.107; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a (3R)-hydroxyacyl-CoA = a (2E)-enoyl-CoA + H2O; Xref=Rhea:RHEA:26526, ChEBI:CHEBI:15377, ChEBI:CHEBI:57319, ChEBI:CHEBI:58856; EC=4.2.1.119; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=10 uM for D-3-hydroxy-octanoyl-CoA {ECO:0000269 PubMed:9089413}; KM=13 uM for NAD {ECO:0000269 PubMed:9089413}; KM=2.7 uM for 3-ketooctanoyl-CoA {ECO:0000269 PubMed:9089413}; KM=5.4 uM for NADH {ECO:0000269 PubMed:9089413}; Vmax=8.8 umol/min/mg enzyme {ECO:0000269 PubMed:9089413};
GENATLAS Biochemistry:
17 beta-hydroxysteroid dehydrogenase type 4,widely expressed,mainly in liver,heart,testis,prostate,multifunctional enzyme localized in the peroxisome,involved in steroid inactivation,stimulated by progesterone,also displaying an intrinsic fatty acid CoA hydratase and sterol transfer activities,playing an essential role in the formation of active intracellular sex steroids

Phenotypes From GWAS Catalog for HSD17B4 Gene

Gene Ontology (GO) - Molecular Function for HSD17B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003857 3-hydroxyacyl-CoA dehydrogenase activity IDA 9089413
GO:0016491 oxidoreductase activity IEA --
GO:0016508 long-chain-enoyl-CoA hydratase activity IDA 9089413
GO:0016829 lyase activity IEA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with HSD17B4: view
genes like me logo Genes that share phenotypes with HSD17B4: view

Human Phenotype Ontology for HSD17B4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HSD17B4 Gene

MGI Knock Outs for HSD17B4:

Animal Model Products

CRISPR Products

miRNA for HSD17B4 Gene

miRTarBase miRNAs that target HSD17B4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HSD17B4 Gene

Localization for HSD17B4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HSD17B4 Gene

Peroxisome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HSD17B4 gene
Compartment Confidence
peroxisome 5
cytosol 4
mitochondrion 1
nucleus 1
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HSD17B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome NAS,IDA 7487879
GO:0005778 peroxisomal membrane HDA 21525035
GO:0005782 peroxisomal matrix TAS --
GO:0005829 cytosol TAS --
GO:0016020 membrane HDA 16210410
genes like me logo Genes that share ontologies with HSD17B4: view

Pathways & Interactions for HSD17B4 Gene

genes like me logo Genes that share pathways with HSD17B4: view

UniProtKB/Swiss-Prot P51659-DHB4_HUMAN

  • Pathway: Lipid metabolism; fatty acid beta-oxidation.

Interacting Proteins for HSD17B4 Gene

Gene Ontology (GO) - Biological Process for HSD17B4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000038 very long-chain fatty acid metabolic process IEA --
GO:0001649 osteoblast differentiation HDA 16210410
GO:0006625 protein targeting to peroxisome TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
genes like me logo Genes that share ontologies with HSD17B4: view

No data available for SIGNOR curated interactions for HSD17B4 Gene

Drugs & Compounds for HSD17B4 Gene

(10) Drugs for HSD17B4 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
Water Approved Pharma 0
3r-Hydroxydecanoyl-Coa Experimental Pharma Target 0
Acetoacetyl-CoA Experimental Pharma 0
NAD Experimental Pharma Full agonist, Agonist, Activator 0

(28) Additional Compounds for HSD17B4 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(S)-3-Hydroxydodecanoyl-CoA
  • (S)-3-Hydroxydodecanoyl-coenzyme A
  • (S)-3-Hydroxylauroyl-CoA
  • (S)-3-Hydroxylauroyl-coenzyme A
72059-49-5
(S)-3-Hydroxyhexadecanoyl-CoA
  • (S)-3-Hydroxyhexadecanoyl-coenzyme A
  • (S)-3-Hydroxypalmitoyl-coenzyme A
  • b-Hydroxypalmitoyl-CoA
  • b-Hydroxypalmitoyl-coenzyme A
  • beta-Hydroxypalmitoyl-CoA
35106-50-4
(S)-3-Hydroxytetradecanoyl-CoA
  • (S)-3-Hydroxytetradecanoyl-coa.
  • (S)-3-Hydroxytetradecanoyl-coenzyme A.
(S)-Hydroxydecanoyl-CoA
  • (S)-3-Hydroxydecanoyl-CoA
  • (S)-3-Hydroxydecanoyl-coenzyme A
  • 3-Hydroxydecanoyl-CoA
  • 3-Hydroxydecanoyl-coenzyme A
  • 3S-Hydroxy-decanoyl-CoA
6245-70-1
(S)-Hydroxyhexanoyl-CoA
  • (S)-3-Hydroxycaproyl-CoA
  • (S)-3-Hydroxycaproyl-coenzyme A
  • (S)-Hydroxyhexanoyl-CoA
  • 3-Hydroxyhexanoyl-coenzyme A
79171-47-4
genes like me logo Genes that share compounds with HSD17B4: view

Transcripts for HSD17B4 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for HSD17B4 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c ^
SP1: - - - - -
SP2: - - - - - - -
SP3: - -
SP4:
SP5: - -
SP6: -
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b ^ 28a · 28b
SP1: - - - -
SP2:
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for HSD17B4 Gene

GeneLoc Exon Structure for
HSD17B4
ECgene alternative splicing isoforms for
HSD17B4

Expression for HSD17B4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HSD17B4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HSD17B4 Gene

This gene is overexpressed in Liver (x4.0).

Protein differential expression in normal tissues from HIPED for HSD17B4 Gene

This gene is overexpressed in Liver (12.2), Fetal Liver (7.3), and Adrenal (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HSD17B4 Gene



Protein tissue co-expression partners for HSD17B4 Gene

NURSA nuclear receptor signaling pathways regulating expression of HSD17B4 Gene:

HSD17B4

SOURCE GeneReport for Unigene cluster for HSD17B4 Gene:

Hs.406861

mRNA Expression by UniProt/SwissProt for HSD17B4 Gene:

P51659-DHB4_HUMAN
Tissue specificity: Present in many tissues with highest concentrations in liver, heart, prostate and testis.

Evidence on tissue expression from TISSUES for HSD17B4 Gene

  • Nervous system(5)
  • Liver(4.7)
  • Lung(4.4)
  • Spleen(4.4)
  • Kidney(2.9)
  • Intestine(2.6)
  • Skin(2.3)
  • Thyroid gland(2.1)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HSD17B4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
Pelvis:
  • ovary
  • pelvis
  • penis
  • placenta
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with HSD17B4: view

Orthologs for HSD17B4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HSD17B4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HSD17B4 33 32
  • 99.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia HSD17B4 33 32
  • 88.72 (n)
OneToOne
cow
(Bos Taurus)
Mammalia HSD17B4 33 32
  • 88.22 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hsd17b4 32
  • 85.17 (n)
mouse
(Mus musculus)
Mammalia Hsd17b4 17 33 32
  • 84.76 (n)
oppossum
(Monodelphis domestica)
Mammalia HSD17B4 33
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HSD17B4 33
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves HSD17B4 33 32
  • 72.81 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HSD17B4 33
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hsd17b4 32
  • 70.72 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.25981 32
zebrafish
(Danio rerio)
Actinopterygii hsd17b4 33 32
  • 64.32 (n)
OneToMany
zgc55545 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10838 32
fruit fly
(Drosophila melanogaster)
Insecta Mfe2 33 32
  • 54.22 (n)
OneToMany
CG3415 34
  • 51 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008667 32
  • 53.66 (n)
worm
(Caenorhabditis elegans)
Secernentea dhs-28 32
  • 55.05 (n)
E04F6.3 34
  • 52 (a)
maoc-1 33
  • 45 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13817g 32
  • 51.13 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGL060W 32
  • 51.07 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FOX2 33 32
  • 49.91 (n)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ECH2 32
  • 49.09 (n)
rice
(Oryza sativa)
Liliopsida Os09g0544900 32
  • 49.08 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08828 32
  • 52.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 49 (a)
OneToMany
Species where no ortholog for HSD17B4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HSD17B4 Gene

ENSEMBL:
Gene Tree for HSD17B4 (if available)
TreeFam:
Gene Tree for HSD17B4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HSD17B4: view image

Paralogs for HSD17B4 Gene

(4) SIMAP similar genes for HSD17B4 Gene using alignment to 6 proteins:

  • DHB4_HUMAN
  • E7EPL9_HUMAN
  • E7ER27_HUMAN
  • E7ET17_HUMAN
  • E7EWE5_HUMAN
  • G5E9S2_HUMAN

Pseudogenes.org Pseudogenes for HSD17B4 Gene

genes like me logo Genes that share paralogs with HSD17B4: view

Variants for HSD17B4 Gene

Sequence variations from dbSNP and Humsavar for HSD17B4 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1057516269 likely-pathogenic, Bifunctional peroxisomal enzyme deficiency 119,496,546(+) C/G coding_sequence_variant, stop_gained
rs1057516273 likely-pathogenic, Bifunctional peroxisomal enzyme deficiency 119,514,979(+) A/C splice_acceptor_variant
rs1057516310 likely-pathogenic, Bifunctional peroxisomal enzyme deficiency 119,479,003(+) CAGACAG/CAG coding_sequence_variant, frameshift
rs1057516312 likely-pathogenic, Bifunctional peroxisomal enzyme deficiency 119,531,316(+) AAA/AA coding_sequence_variant, frameshift
rs1057516672 likely-pathogenic, Bifunctional peroxisomal enzyme deficiency, not provided 119,475,720(+) AA/AAA 5_prime_UTR_variant, coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for HSD17B4 Gene

Variant ID Type Subtype PubMed ID
esv2486573 CNV deletion 19546169
nsv4974 CNV deletion 18451855
nsv964931 CNV duplication 23825009

Variation tolerance for HSD17B4 Gene

Residual Variation Intolerance Score: 41.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 23.00; 99.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HSD17B4 Gene

Human Gene Mutation Database (HGMD)
HSD17B4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HSD17B4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HSD17B4 Gene

Disorders for HSD17B4 Gene

MalaCards: The human disease database

(12) MalaCards diseases for HSD17B4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
d-bifunctional protein deficiency
  • 17-beta-hydroxysteroid dehydrogenase iv deficiency
perrault syndrome 1
  • prlts1
perrault syndrome
  • gonadal dysgenesis, xx type
rhizomelic chondrodysplasia punctata, type 1
  • rcdp1
peroxisomal disease
  • peroxisomal disorder
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DHB4_HUMAN
  • D-bifunctional protein deficiency (DBPD) [MIM:261515]: Disorder of peroxisomal fatty acid beta-oxidation. {ECO:0000269 PubMed:10400999, ECO:0000269 PubMed:10671535, ECO:0000269 PubMed:11743515, ECO:0000269 PubMed:9482850}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Perrault syndrome 1 (PRLTS1) [MIM:233400]: A sex-influenced disorder characterized by sensorineural deafness in both males and females and ovarian dysgenesis in females. Some patients also have neurologic manifestations, including mild mental retardation and cerebellar and peripheral nervous system involvement. {ECO:0000269 PubMed:20673864}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HSD17B4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HSD17B4: view

No data available for Genatlas for HSD17B4 Gene

Publications for HSD17B4 Gene

  1. Crystal structure of 2-enoyl-CoA hydratase 2 from human peroxisomal multifunctional enzyme type 2. (PMID: 15644212) Koski KM … Glumoff T (Journal of molecular biology 2005) 3 4 23 56
  2. Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. (PMID: 9482850) van Grunsven EG … Wanders RJ (Proceedings of the National Academy of Sciences of the United States of America 1998) 3 4 23 56
  3. Purification and properties of human D-3-hydroxyacyl-CoA dehydratase: medium-chain enoyl-CoA hydratase is D-3-hydroxyacyl-CoA dehydratase. (PMID: 8902629) Jiang LL … Hashimoto T (Journal of biochemistry 1996) 3 4 23 56
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 43 56
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 43 56

Products for HSD17B4 Gene

Sources for HSD17B4 Gene