Aliases for SERHL2 Gene

Aliases for SERHL2 Gene

  • Serine Hydrolase Like 2 2 3 5
  • Serine Hydrolase-Like Protein 2 3 4
  • Testis Secretory Sperm-Binding Protein Li 216e 3
  • DJ222E13.1 3
  • EC 3.1.-.- 4
  • SERHL 4

External Ids for SERHL2 Gene

Previous GeneCards Identifiers for SERHL2 Gene

  • GC22P041275
  • GC22P042949
  • GC22P025910
  • GC22P042553

Summaries for SERHL2 Gene

GeneCards Summary for SERHL2 Gene

SERHL2 (Serine Hydrolase Like 2) is a Protein Coding gene. Diseases associated with SERHL2 include Morgagni Cataract and Hypotonia-Cystinuria Syndrome. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is ABHD6.

UniProtKB/Swiss-Prot Summary for SERHL2 Gene

  • Probable serine hydrolase. May be related to cell muscle hypertrophy.

Additional gene information for SERHL2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SERHL2 Gene

Genomics for SERHL2 Gene

GeneHancer (GH) Regulatory Elements for SERHL2 Gene

Promoters and enhancers for SERHL2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SERHL2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SERHL2

Top Transcription factor binding sites by QIAGEN in the SERHL2 gene promoter:
  • COMP1
  • En-1
  • FOXF2
  • MyoD
  • NF-kappaB
  • NF-kappaB1
  • POU3F2
  • PPAR-gamma1
  • PPAR-gamma2
  • RelA

Genomic Locations for SERHL2 Gene

Genomic Locations for SERHL2 Gene
chr22:42,518,735-42,574,382
(GRCh38/hg38)
Size:
55,648 bases
Orientation:
Plus strand
chr22:42,949,623-42,970,388
(GRCh37/hg19)
Size:
20,766 bases
Orientation:
Plus strand

Genomic View for SERHL2 Gene

Genes around SERHL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SERHL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SERHL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SERHL2 Gene

Proteins for SERHL2 Gene

  • Protein details for SERHL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4I8-SEHL2_HUMAN
    Recommended name:
    Serine hydrolase-like protein 2
    Protein Accession:
    Q9H4I8
    Secondary Accessions:
    • B1AHE9
    • B1AHF0
    • Q0VDJ1
    • Q5H973
    • Q9BR29
    • Q9BR30
    • Q9Y3I9

    Protein attributes for SERHL2 Gene

    Size:
    314 amino acids
    Molecular mass:
    35369 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • This gene may have been partially duplicated (see SERHL).

    Alternative splice isoforms for SERHL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SERHL2 Gene

Post-translational modifications for SERHL2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SERHL2 Gene

Domains & Families for SERHL2 Gene

Gene Families for SERHL2 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SERHL2 Gene

Blocks:
  • Alpha/beta hydrolase fold
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SERHL2 Gene

GenScript: Design optimal peptide antigens:
  • Serine hydrolase-like 2 (B1AHE8_HUMAN)
  • cDNA FLJ60497, highly similar to Serine hydrolase-like protein (EC 3.1.-.-) (B4DGG4_HUMAN)
  • Serine hydrolase-like 2 (Q0VDJ0_HUMAN)
  • Serine hydrolase-like protein 2 (SEHL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H4I8

UniProtKB/Swiss-Prot:

SEHL2_HUMAN :
  • Belongs to the AB hydrolase superfamily.
Family:
  • Belongs to the AB hydrolase superfamily.
genes like me logo Genes that share domains with SERHL2: view

Function for SERHL2 Gene

Molecular function for SERHL2 Gene

UniProtKB/Swiss-Prot Function:
Probable serine hydrolase. May be related to cell muscle hypertrophy.

Enzyme Numbers (IUBMB) for SERHL2 Gene

Phenotypes From GWAS Catalog for SERHL2 Gene

Gene Ontology (GO) - Molecular Function for SERHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with SERHL2: view
genes like me logo Genes that share phenotypes with SERHL2: view

Animal Model Products

CRISPR Products

miRNA for SERHL2 Gene

miRTarBase miRNAs that target SERHL2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SERHL2 Gene

Localization for SERHL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SERHL2 Gene

Cytoplasm, perinuclear region. Peroxisome. Note=Concentrated in perinuclear vesicles. May be located in peroxisomes. {ECO:0000250}.

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 SERHL2 gene
Compartment Confidence
peroxisome 4
nucleus 3
endoplasmic reticulum 1
cytosol 1
extracellular 0

Gene Ontology (GO) - Cellular Components for SERHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005777 peroxisome IEA --
GO:0031410 cytoplasmic vesicle IEA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with SERHL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for SERHL2 Gene

Pathways & Interactions for SERHL2 Gene

PathCards logo

SuperPathways for SERHL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SERHL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with SERHL2: view

No data available for Pathways by source and SIGNOR curated interactions for SERHL2 Gene

Drugs & Compounds for SERHL2 Gene

No Compound Related Data Available

Transcripts for SERHL2 Gene

mRNA/cDNA for SERHL2 Gene

2 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SERHL2 Gene

No ASD Table

Relevant External Links for SERHL2 Gene

GeneLoc Exon Structure for
SERHL2

Expression for SERHL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SERHL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SERHL2 Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SERHL2 Gene



Protein tissue co-expression partners for SERHL2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SERHL2

SOURCE GeneReport for Unigene cluster for SERHL2 Gene:

Hs.728878

Evidence on tissue expression from TISSUES for SERHL2 Gene

  • Kidney(4.2)
genes like me logo Genes that share expression patterns with SERHL2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for SERHL2 Gene

Orthologs for SERHL2 Gene

This gene was present in the common ancestor of animals.

Orthologs for SERHL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC746330 30
  • 96 (n)
SERHL2 31
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SERHL2 31 30
  • 79.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SERHL2 31 30
  • 78.62 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Serhl 17 31 30
  • 77.18 (n)
rat
(Rattus norvegicus)
Mammalia Serhl2 30
  • 76.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SERHL2 31
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 55 (a)
OneToMany
-- 31
  • 45 (a)
OneToMany
chicken
(Gallus gallus)
Aves SERHL2 31 30
  • 59.84 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SERHL2 31
  • 44 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia serhl2 30
  • 52.82 (n)
zebrafish
(Danio rerio)
Actinopterygii serhl 31 30
  • 51.17 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta kraken 31 30
  • 47.87 (n)
OneToMany
CG15820 31
  • 31 (a)
OneToMany
CG7632 31
  • 28 (a)
OneToMany
CG5704 31
  • 25 (a)
OneToMany
CG15879 31
  • 25 (a)
OneToMany
CG11309 31
  • 23 (a)
OneToMany
CG5707 31
  • 20 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010246 30
  • 43.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 33 (a)
OneToMany
CSA.838 31
  • 27 (a)
OneToMany
Species where no ortholog for SERHL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • 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)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SERHL2 Gene

ENSEMBL:
Gene Tree for SERHL2 (if available)
TreeFam:
Gene Tree for SERHL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SERHL2: view image

Paralogs for SERHL2 Gene

Paralogs for SERHL2 Gene

(2) SIMAP similar genes for SERHL2 Gene using alignment to 6 proteins:

  • SEHL2_HUMAN
  • A6ND93_HUMAN
  • B4DGG4_HUMAN
  • E9PMQ2_HUMAN
  • F2Z3M3_HUMAN
  • Q0VDJ0_HUMAN

Pseudogenes.org Pseudogenes for SERHL2 Gene

genes like me logo Genes that share paralogs with SERHL2: view

Variants for SERHL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SERHL2 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs137055 - p.Cys306Arg
rs3213549 - p.Glu3Lys
rs926333 - p.Ser46Asn

Additional dbSNP identifiers (rs#s) for SERHL2 Gene

Structural Variations from Database of Genomic Variants (DGV) for SERHL2 Gene

Variant ID Type Subtype PubMed ID
dgv101e203 CNV gain+loss 21179565
dgv103e180 CNV gain 20482838
dgv1321e212 CNV gain 25503493
dgv1322e212 CNV gain 25503493
dgv1323e212 CNV loss 25503493
dgv173n111 CNV duplication 26073780
dgv175n111 CNV duplication 26073780
dgv4577n100 CNV gain 25217958
dgv4578n100 CNV gain 25217958
dgv4579n100 CNV gain+loss 25217958
dgv4583n100 CNV gain+loss 25217958
dgv4584n100 CNV gain 25217958
dgv4585n100 CNV gain 25217958
dgv734e201 CNV deletion 23290073
dgv773n67 CNV gain 20364138
dgv8117n54 CNV gain 21841781
dgv8118n54 CNV loss 21841781
dgv8119n54 CNV gain 21841781
dgv843e214 CNV gain 21293372
esv2658455 CNV deletion 23128226
esv2659886 CNV deletion 23128226
esv2758839 CNV gain+loss 17122850
esv28197 CNV gain 19812545
esv2967124 CNV duplication 24192839
esv32632 CNV gain 17666407
esv3568419 CNV loss 25503493
esv3568421 CNV loss 25503493
esv3568423 CNV loss 25503493
esv3575487 CNV gain 25503493
esv3575492 CNV gain 25503493
esv3647834 CNV loss 21293372
esv3647835 CNV loss 21293372
nsv1057729 CNV loss 25217958
nsv1062078 CNV loss 25217958
nsv1160775 CNV deletion 26073780
nsv1160776 CNV duplication 26073780
nsv428391 CNV gain 18775914
nsv436074 CNV insertion 17901297
nsv511642 CNV loss 21212237
nsv589078 CNV gain 21841781
nsv589083 CNV loss 21841781
nsv829246 CNV loss 20364138
nsv9912 CNV gain+loss 18304495

Variation tolerance for SERHL2 Gene

Residual Variation Intolerance Score: 85.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.32; 62.99% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SERHL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SERHL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SERHL2 Gene

Disorders for SERHL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SERHL2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
morgagni cataract
  • hypermature cataract
hypotonia-cystinuria syndrome
  • cystinuria with mitochondrial disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for SERHL2

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 SERHL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SERHL2 Gene

Publications for SERHL2 Gene

  1. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  3. Reevaluating human gene annotation: a second-generation analysis of chromosome 22. (PMID: 12529303) Collins JE … Dunham I (Genome research 2003) 3 4 54
  4. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I … O'Brien KP (Nature 1999) 3 4 54
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54

Products for SERHL2 Gene

Sources for SERHL2 Gene