Aliases for PIH1D2 Gene
External Ids for PIH1D2 Gene
- HGNC: 25210
- Entrez Gene: 120379
- Ensembl: ENSG00000150773
- UniProtKB: Q8WWB5
Previous GeneCards Identifiers for PIH1D2 Gene
- GC11M111444
- GC11M111935
- GC11M107858
Summaries for PIH1D2 Gene
GeneCards Summary for PIH1D2 Gene
PIH1D2 (PIH1 Domain Containing 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include Ral GTPase binding.
Additional gene information for PIH1D2 Gene
- Monarch Initiative
- Search for PIH1D2 at DataMed
- Search for PIH1D2 at HumanCyc
No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIH1D2 Gene
Genomics for PIH1D2 Gene
GeneHancer (GH) Regulatory Elements for PIH1D2 Gene
Promoters and enhancers for PIH1D2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PIH1D2 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PIH1D2 gene promoter:
Regulatory Element Products
Genomic Locations for PIH1D2 Gene
Genomic Locations for PIH1D2 Gene
- chr11:112,052,409-112,074,274
- (GRCh38/hg38)
- Size:
- 21,866 bases
- Orientation:
- Minus strand
- chr11:111,934,734-111,944,998
- (GRCh37/hg19)
Genomic View for PIH1D2 Gene
Genes around PIH1D2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q23.1 by Ensembl
- 11q23.1 by Entrez Gene
- 11q23.1 by HGNC
PIH1D2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PIH1D2 Gene
Proteins for PIH1D2 Gene
-
Protein details for PIH1D2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8WWB5-PIHD2_HUMAN
- Recommended name:
- PIH1 domain-containing protein 2
- Protein Accession:
- Q8WWB5
- B4DU48
- E9PD82
Protein attributes for PIH1D2 Gene
- Size:
- 315 amino acids
- Molecular mass:
- 35957 Da
- Quaternary structure:
- No Data Available
Protein Expression for PIH1D2 Gene
Post-translational modifications for PIH1D2 Gene
No Post-translational modifications
Other Protein References for PIH1D2 Gene
Antibody Products
- Novus Biologicals Antibodies for PIH1D2
- Invitrogen Antibodies for PIH1D2
- Search GeneTex for Antibodies for PIH1D2
Protein Products
-
OriGene Purified Proteins for PIH1D2
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- Search GeneTex for Proteins for PIH1D2
Assay Products
No data available for DME Specific Peptides for PIH1D2 Gene
Domains & Families for PIH1D2 Gene
Gene Families for PIH1D2 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
Protein Domains for PIH1D2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PIH1D2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q8WWB5- Family:
-
- Belongs to the PIH1 family.
Function for PIH1D2 Gene
Phenotypes From GWAS Catalog for PIH1D2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0017160 | Ral GTPase binding | IPI | 24056301 |
Phenotypes for PIH1D2 Gene
- GenomeRNAi human phenotypes for PIH1D2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for PIH1D2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PIH1D2 gene
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CRISPR Products
-
OriGene CRISPR knockouts for PIH1D2
- genomics-online: gRNA clones - Search results for 91 available PIH1D2 gene related products
- Overview of 91 available PIH1D2 gene related products
- Applied Biological Materials CRISPR for PIH1D2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIH1D2
- GenScript: Design CRISPR guide RNA sequences for PIH1D2
miRNA Products
- Search ViGene Biosciences for PIH1D2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PIH1D2
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- genomics-online: shRNA clones - Search results for 91 available PIH1D2 gene related products
- Overview of 91 available PIH1D2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PIH1D2 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PIH1D2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PIH1D2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for PIH1D2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PIH1D2
-
ViGene Biosciences adenoviral particle packaged cDNA for PIH1D2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for PIH1D2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for PIH1D2 gene
No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PIH1D2 Gene
Localization for PIH1D2 Gene
| Compartment | Confidence |
|---|---|
| nucleus | 3 |
| cytosol | 3 |
| plasma membrane | 2 |
- Cytosol (1)
- Nucleoplasm (1)
No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for PIH1D2 Gene
Pathways & Interactions for PIH1D2 Gene
No Data Available
Interacting Proteins for PIH1D2 Gene
Selected Interacting proteins:
ENSP00000280350
Q8WWB5-PIHD2_HUMAN
for PIH1D2 Gene via
STRING
IID
UniProtKB
No data available for Pathways by source and SIGNOR curated interactions for PIH1D2 Gene
Transcripts for PIH1D2 Gene
mRNA/cDNA for PIH1D2 Gene
- (8) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (45) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PIH1D2 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PIH1D2
- genomics-online: gRNA clones - Search results for 91 available PIH1D2 gene related products
- Overview of 91 available PIH1D2 gene related products
- Applied Biological Materials CRISPR for PIH1D2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PIH1D2
- GenScript: Design CRISPR guide RNA sequences for PIH1D2
miRNA Products
- Search ViGene Biosciences for PIH1D2
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for PIH1D2
- Browse OriGene Inhibitory RNA Products For PIH1D2
- genomics-online: shRNA clones - Search results for 91 available PIH1D2 gene related products
- Overview of 91 available PIH1D2 gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for PIH1D2 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PIH1D2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PIH1D2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for PIH1D2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||||||||
| SP2: | - | ||||||||||||||||||
| SP3: | |||||||||||||||||||
| SP4: | - |
Expression for PIH1D2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
mRNA differential expression in normal tissues according to GTEx for PIH1D2 Gene
This gene is overexpressed in Testis (x18.6).
This gene is overexpressed in Testis (67.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PIH1D2 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PIH1D2 Gene:
PIH1D2SOURCE GeneReport for Unigene cluster for PIH1D2 Gene:
Hs.420662Primer Products
-
OriGene qPCR primer pairs for PIH1D2
-
OriGene qPCR primer pairs and template standards for PIH1D2
No data available for mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIH1D2 Gene
Orthologs for PIH1D2 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PIH1D2 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | PIH1D2 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | PIH1D2 33 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pih1d2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Pih1d2 33 16 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PIH1D2 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PIH1D2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PIH1D2 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PIH1D2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC101734438 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pih1d2 33 34 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToOne |
- Species where no ortholog for PIH1D2 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)
- worm (Caenorhabditis elegans)
Paralogs for PIH1D2 Gene
No data available for Paralogs for PIH1D2 Gene
Variants for PIH1D2 Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs116895022 | uncertain-significance, Pyruvate dehydrogenase complex deficiency | 112,063,455(-) | A/G | genic_downstream_transcript_variant, intron_variant | |
| rs119103240 | pathogenic, Pyruvate dehydrogenase E2 deficiency | 112,061,088(-) | C/A | genic_downstream_transcript_variant, intron_variant | |
| rs139429714 | uncertain-significance, Pyruvate dehydrogenase complex deficiency | 112,063,157(-) | C/A | genic_downstream_transcript_variant, intron_variant | |
| rs144371275 | uncertain-significance, Pyruvate dehydrogenase complex deficiency | 112,063,910(-) | T/C | downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant | |
| rs184244244 | uncertain-significance, Pyruvate dehydrogenase complex deficiency | 112,064,130(-) | G/A | 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2745077 | CNV | deletion | 23290073 |
Residual Variation Intolerance Score:
54.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.15;
61.56% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PIH1D2 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PIH1D2
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIH1D2 Gene
Disorders for PIH1D2 Gene
Additional Disease Information for PIH1D2
No disorders were found for PIH1D2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PIH1D2 Gene
Publications for PIH1D2 Gene
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
- Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism. (PMID: 24722188) Corominas R … Iakoucheva LM (Nature communications 2014) 3 58
- A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
- The deubiquitylase USP33 discriminates between RALB functions in autophagy and innate immune response. (PMID: 24056301) Simicek M … Sablina AA (Nature cell biology 2013) 3 58
- Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H … Vidal M (Nature methods 2011) 3 58
Products for PIH1D2 Gene
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- Invitrogen Antibodies for PIH1D2
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- VectorBuilder custom plasmid, inducible vectors for PIH1D2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PIH1D2
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for available PIH1D2 related products ranked by validation data
- antibodies-online: Search results for available PIH1D2 related products ranked by validation data
- antibodies-online: Search results for available PIH1D2 related products ranked by validation data
- Search GeneTex for Antibodies for PIH1D2
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- ViGene Biosciences adenoviral particle packaged cDNA for PIH1D2 gene
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- genomics-online: cdna clones - Search results for 91 available PIH1D2 gene related products
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- Overview of 91 available PIH1D2 gene related products
- genomics-online: shRNA clones - Search results for 91 available PIH1D2 gene related products
- Overview of 91 available PIH1D2 gene related products
Sources for PIH1D2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew