Aliases for SH2D4A Gene

Aliases for SH2D4A Gene

  • SH2 Domain Containing 4A 2 3 5
  • Protein Phosphatase 1 Regulatory Subunit 38 3 4
  • SH2 Domain-Containing Protein 4A 3 4
  • Protein SH(2)A 3 4
  • PPP1R38 3 4
  • SH2A 3 4
  • Protein Phosphatase 1, Regulatory Subunit 38 2

External Ids for SH2D4A Gene

Previous GeneCards Identifiers for SH2D4A Gene

  • GC08P019182
  • GC08P019215
  • GC08P017711

Summaries for SH2D4A Gene

GeneCards Summary for SH2D4A Gene

SH2D4A (SH2 Domain Containing 4A) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include phosphatase binding. An important paralog of this gene is SH2D4B.

UniProtKB/Swiss-Prot Summary for SH2D4A Gene

  • Inhibits estrogen-induced cell proliferation by competing with PLCG for binding to ESR1, blocking the effect of estrogen on PLCG and repressing estrogen-induced proliferation. May play a role in T-cell development and function.

Gene Wiki entry for SH2D4A Gene

Additional gene information for SH2D4A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SH2D4A Gene

Genomics for SH2D4A Gene

GeneHancer (GH) Regulatory Elements for SH2D4A Gene

Promoters and enhancers for SH2D4A 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
GH08J019311 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 759.6 +0.9 919 4.9 CTCF RBPJ POLR2A USF2 CREB1 MNT RERE ELF3 ZNF473 SP1 SH2D4A CSGALNACT1 piR-55053 RF00017-6865
GH08J019290 Enhancer 0.9 Ensembl ENCODE 25.5 -22.0 -22005 2.5 SIN3A ZNF217 MNT ZBTB33 SP1 MAFK CEBPG CREB1 POLR2A BRCA1 SH2D4A INTS10 LOC105379306 ENSG00000279919 RF00017-6865
GH08J019385 Enhancer 0.9 Ensembl ENCODE 19.8 +75.5 75458 11.8 SP1 SP7 FOSL2 IKZF1 ZIC2 PKNOX1 RXRA IKZF2 ZEB2 FOXA2 SH2D4A CSGALNACT1 INTS10 RF00017-6865 ENSG00000279858 LOC102724881
GH08J019266 Enhancer 1 ENCODE CraniofacialAtlas 17.9 -45.8 -45810 1.3 CTCF MIXL1 RAD21 ELF3 MAFK SP7 ZSCAN21 KAT8 RXRA REST SH2D4A PSD3 CSGALNACT1 ENSG00000253557 ENSG00000279919 LOC105379300 RF00017-6865
GH08J019262 Enhancer 0.8 FANTOM5 Ensembl ENCODE 17.5 -50.9 -50877 0.7 MAFK FOXA2 FOS ZNF623 FOSL2 JUND SH2D4A ENSG00000253335 ENSG00000253557 ENSG00000279919 LOC105379300 RF00017-6865
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SH2D4A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SH2D4A gene promoter:
  • FOXC1
  • FOXD1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-1
  • HNF-1
  • HNF-1A
  • p53
  • Sox9
  • SRY

Genomic Locations for SH2D4A Gene

Genomic Locations for SH2D4A Gene
chr8:19,313,443-19,396,218
(GRCh38/hg38)
Size:
82,776 bases
Orientation:
Plus strand
chr8:19,171,081-19,253,729
(GRCh37/hg19)
Size:
82,649 bases
Orientation:
Plus strand

Genomic View for SH2D4A Gene

Genes around SH2D4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SH2D4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SH2D4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SH2D4A Gene

Proteins for SH2D4A Gene

  • Protein details for SH2D4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H788-SH24A_HUMAN
    Recommended name:
    SH2 domain-containing protein 4A
    Protein Accession:
    Q9H788
    Secondary Accessions:
    • B4DDR1
    • Q5XKC1
    • Q6NXE9
    • Q86YM2
    • Q96C88
    • Q9H7F7

    Protein attributes for SH2D4A Gene

    Size:
    454 amino acids
    Molecular mass:
    52727 Da
    Quaternary structure:
    • Interacts with ESR1.
    SequenceCaution:
    • Sequence=AAH67117.1; Type=Frameshift; Positions=392; Evidence={ECO:0000305}; Sequence=AAO41715.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAO41715.1; Type=Erroneous termination; Positions=455; Note=Translated as stop.; Evidence={ECO:0000305}; Sequence=BAB14935.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for SH2D4A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SH2D4A Gene

Post-translational modifications for SH2D4A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SH2D4A Gene

No data available for DME Specific Peptides for SH2D4A Gene

Domains & Families for SH2D4A Gene

Gene Families for SH2D4A Gene

Protein Domains for SH2D4A Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SH2D4A Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56399, highly similar to SH2 domain-containing protein 4A (B4DDR1_HUMAN)
  • Protein SH(2)A (SH24A_HUMAN)
genes like me logo Genes that share domains with SH2D4A: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SH2D4A Gene

Function for SH2D4A Gene

Molecular function for SH2D4A Gene

UniProtKB/Swiss-Prot Function:
Inhibits estrogen-induced cell proliferation by competing with PLCG for binding to ESR1, blocking the effect of estrogen on PLCG and repressing estrogen-induced proliferation. May play a role in T-cell development and function.

Phenotypes From GWAS Catalog for SH2D4A Gene

Gene Ontology (GO) - Molecular Function for SH2D4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0019902 phosphatase binding IDA,IBA 19389623
genes like me logo Genes that share ontologies with SH2D4A: view
genes like me logo Genes that share phenotypes with SH2D4A: view

Animal Models for SH2D4A Gene

MGI Knock Outs for SH2D4A:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH2D4A

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for SH2D4A Gene

Localization for SH2D4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for SH2D4A Gene

Cytoplasm. Note=Located at podocyte foot processes. {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 SH2D4A gene
Compartment Confidence
cytosol 5
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SH2D4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SH2D4A: view

Pathways & Interactions for SH2D4A Gene

PathCards logo

SuperPathways for SH2D4A Gene

No Data Available

Gene Ontology (GO) - Biological Process for SH2D4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010923 negative regulation of phosphatase activity IDA,IBA 19389623
genes like me logo Genes that share ontologies with SH2D4A: view

No data available for Pathways by source and SIGNOR curated interactions for SH2D4A Gene

Drugs & Compounds for SH2D4A Gene

No Compound Related Data Available

Transcripts for SH2D4A Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SH2D4A

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SH2D4A Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b
SP1: - - -
SP2: - -
SP3: -
SP4:
SP5:

Relevant External Links for SH2D4A Gene

GeneLoc Exon Structure for
SH2D4A
ECgene alternative splicing isoforms for
SH2D4A

Expression for SH2D4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SH2D4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SH2D4A Gene

This gene is overexpressed in Esophagus - Mucosa (x4.0).

Protein differential expression in normal tissues from HIPED for SH2D4A Gene

This gene is overexpressed in Adrenal (15.6), Pancreas (10.2), Plasma (7.7), and Islet of Langerhans (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SH2D4A Gene



NURSA nuclear receptor signaling pathways regulating expression of SH2D4A Gene:

SH2D4A

SOURCE GeneReport for Unigene cluster for SH2D4A Gene:

Hs.303208

mRNA Expression by UniProt/SwissProt for SH2D4A Gene:

Q9H788-SH24A_HUMAN
Tissue specificity: Ubiquitously expressed. Aberrantly expressed in some cancers.

Evidence on tissue expression from TISSUES for SH2D4A Gene

  • Liver(4.3)
genes like me logo Genes that share expression patterns with SH2D4A: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SH2D4A Gene

Orthologs for SH2D4A Gene

This gene was present in the common ancestor of animals.

Orthologs for SH2D4A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SH2D4A 33 32
  • 98.46 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SH2D4A 33 32
  • 85.21 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sh2d4a 32
  • 80.25 (n)
mouse
(Mus musculus)
Mammalia Sh2d4a 17 33 32
  • 79.33 (n)
cow
(Bos Taurus)
Mammalia SH2D4A 33 32
  • 78 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SH2D4A 33
  • 70 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SH2D4A 33
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SH2D4A 33 32
  • 64.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SH2D4A 33
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sh2d4a 32
  • 57.88 (n)
zebrafish
(Danio rerio)
Actinopterygii sh2d4a 33 32
  • 58.02 (n)
OneToOne
zgc56186 32
worm
(Caenorhabditis elegans)
Secernentea F13B12.6 33 32
  • 48.66 (n)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 23 (a)
OneToMany
Species where no ortholog for SH2D4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)

Evolution for SH2D4A Gene

ENSEMBL:
Gene Tree for SH2D4A (if available)
TreeFam:
Gene Tree for SH2D4A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SH2D4A: view image

Paralogs for SH2D4A Gene

Paralogs for SH2D4A Gene

(1) SIMAP similar genes for SH2D4A Gene using alignment to 2 proteins:

  • SH24A_HUMAN
  • H0YAT1_HUMAN

Pseudogenes.org Pseudogenes for SH2D4A Gene

genes like me logo Genes that share paralogs with SH2D4A: view

Variants for SH2D4A Gene

Sequence variations from dbSNP and Humsavar for SH2D4A Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000023311 -- 19,358,028(+) C/T intron_variant
rs1000066635 -- 19,325,164(+) C/G/T intron_variant
rs1000102284 -- 19,372,113(+) T/A intron_variant
rs1000116563 -- 19,336,522(+) G/T intron_variant
rs1000119106 -- 19,381,433(+) G/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for SH2D4A Gene

Variant ID Type Subtype PubMed ID
esv1003522 CNV deletion 20482838
esv1412941 CNV deletion 17803354
esv34007 CNV loss 18971310
esv3616532 CNV gain 21293372
esv3891369 CNV gain 25118596
nsv1016482 CNV gain 25217958
nsv398156 CNV deletion 16902084
nsv522185 CNV gain 19592680
nsv522774 CNV loss 19592680
nsv523271 CNV loss 19592680
nsv528004 CNV loss 19592680
nsv6103 CNV insertion 18451855
nsv610751 CNV loss 21841781
nsv951109 CNV duplication 24416366

Variation tolerance for SH2D4A Gene

Residual Variation Intolerance Score: 23.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.17; 92.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SH2D4A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SH2D4A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SH2D4A Gene

Disorders for SH2D4A Gene

Additional Disease Information for SH2D4A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for SH2D4A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SH2D4A Gene

Publications for SH2D4A Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  2. SH2D4A regulates cell proliferation via the ERalpha/PLC-gamma/PKC pathway. (PMID: 19712589) Li T … Zhao Y (BMB reports 2009) 3 4 56
  3. Genetic analysis of SH2D4A, a novel adapter protein related to T cell-specific adapter and adapter protein in lymphocytes of unknown function, reveals a redundant function in T cells. (PMID: 18641339) Lapinski PE … King PD (Journal of immunology (Baltimore, Md. : 1950) 2008) 3 4 56
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 56
  5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PMID: 16964243) Beausoleil SA … Gygi SP (Nature biotechnology 2006) 3 4 56

Products for SH2D4A Gene

Sources for SH2D4A Gene