Aliases for HHIPL2 Gene

Aliases for HHIPL2 Gene

  • HHIP Like 2 2 3 5
  • HHIP-Like Protein 2 3 4
  • KIAA1822L 3 4
  • Hedgehog Interacting Protein-Like 2 3
  • KIAA1822-Like 2
  • HHIP-Like 2 2
  • FLJ13840 2
  • HHIPL2 5
  • HHIP3 4

External Ids for HHIPL2 Gene

Previous HGNC Symbols for HHIPL2 Gene

  • KIAA1822L

Previous GeneCards Identifiers for HHIPL2 Gene

  • GC01M220763
  • GC01M222695
  • GC01M193369
  • GC01M222522
  • GC01M222794

Summaries for HHIPL2 Gene

GeneCards Summary for HHIPL2 Gene

HHIPL2 (HHIP Like 2) is a Protein Coding gene. Diseases associated with HHIPL2 include Breast Apocrine Carcinoma and Mowat-Wilson Syndrome. Gene Ontology (GO) annotations related to this gene include quinone binding and oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor. An important paralog of this gene is HHIPL1.

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HHIPL2 Gene

Genomics for HHIPL2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HHIPL2 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
GH01J222546 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 267.1 +1.0 978 2.1 FEZF1 CEBPA ZIC2 CEBPB FOXA2 MAX EP300 TBP PRDM6 MAFK HHIPL2 TAF1A lnc-TAF1A-2 TAF1A-AS1 DUSP10
GH01J222548 Enhancer 0.6 ENCODE 250.7 -0.4 -372 0.6 ZIC2 CEBPG ATF4 ZNF148 ZNF398 KLF1 NFIL3 HLF ATF3 EGR2 HHIPL2 TAF1A HSALNG0010846 TAF1A-AS1
GH01J222520 Enhancer 0.9 Ensembl ENCODE 34.6 +26.1 26105 2.4 CEBPA CEBPB REST FOXA2 RXRA ZBTB33 JUND CBX1 HMG20A HNF4A HHIPL2 ENSG00000267305 lnc-HHIPL2-4 lnc-TAF1A-3 TAF1A-AS1 DUSP10
GH01J222710 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 -164.4 -164397 4.6 TBP SP1 ZBTB10 FEZF1 SIX5 NR2C1 MNT IKZF1 SMAD5 ETS1 BROX AIDA lnc-FAM177B-3 CICP13 TAF1A ENSG00000272750 MIA3 HHIPL2 CAPN2 DISP1
GH01J223166 Enhancer 0.7 Ensembl 30.2 -618.6 -618597 1 ZNF623 ZNF433 ZBTB1 REST ZNF664 ZNF19 ZNF140 ZC3H11A ZNF785 ZBTB8A CICP5 CICP13 TAF1A HHIPL2 ENSG00000272750 SEPTIN7P13 ENSG00000236846 TLR5 GTF2IP20 CAPN2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HHIPL2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HHIPL2

Top Transcription factor binding sites by QIAGEN in the HHIPL2 gene promoter:
  • HNF-1
  • HNF-1A
  • HSF1 (long)
  • HSF1short
  • MyoD
  • NF-kappaB
  • NF-kappaB1
  • PPAR-alpha
  • Zic1

Genomic Locations for HHIPL2 Gene

Latest Assembly
chr1:222,501,521-222,548,104
(GRCh38/hg38)
Size:
46,584 bases
Orientation:
Minus strand

Previous Assembly
chr1:222,695,606-222,721,446
(GRCh37/hg19 by Entrez Gene)
Size:
25,841 bases
Orientation:
Minus strand

chr1:222,695,602-222,721,445
(GRCh37/hg19 by Ensembl)
Size:
25,844 bases
Orientation:
Minus strand

Genomic View for HHIPL2 Gene

Genes around HHIPL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HHIPL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HHIPL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HHIPL2 Gene

Proteins for HHIPL2 Gene

  • Protein details for HHIPL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UWX4-HIPL2_HUMAN
    Recommended name:
    HHIP-like protein 2
    Protein Accession:
    Q6UWX4
    Secondary Accessions:
    • Q6GU65
    • Q96BT4
    • Q96BU5
    • Q9H8A0

    Protein attributes for HHIPL2 Gene

    Size:
    724 amino acids
    Molecular mass:
    80779 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH15201.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=AAH15201.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305}; Sequence=AAH15201.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=AAH16552.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB14717.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for HHIPL2 Gene

Post-translational modifications for HHIPL2 Gene

  • Glycosylation at Asn480
  • Modification sites at PhosphoSitePlus

Other Protein References for HHIPL2 Gene

No data available for DME Specific Peptides for HHIPL2 Gene

Domains & Families for HHIPL2 Gene

Gene Families for HHIPL2 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for HHIPL2 Gene

GenScript: Design optimal peptide antigens:
  • HHIP-like protein 2 (HIPL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6UWX4

UniProtKB/Swiss-Prot:

HIPL2_HUMAN :
  • Belongs to the HHIP family.
Family:
  • Belongs to the HHIP family.
genes like me logo Genes that share domains with HHIPL2: view

Function for HHIPL2 Gene

Phenotypes From GWAS Catalog for HHIPL2 Gene

Gene Ontology (GO) - Molecular Function for HHIPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with HHIPL2: view
genes like me logo Genes that share phenotypes with HHIPL2: view

Animal Models for research

  • Taconic Biosciences Mouse Models for HHIPL2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HHIPL2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HHIPL2 Gene

Localization for HHIPL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HHIPL2 Gene

Secreted.

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 HHIPL2 gene
Compartment Confidence
extracellular 4
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Mitochondria (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HHIPL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with HHIPL2: view

Pathways & Interactions for HHIPL2 Gene

PathCards logo

SuperPathways for HHIPL2 Gene

No Data Available

Interacting Proteins for HHIPL2 Gene

Gene Ontology (GO) - Biological Process for HHIPL2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for HHIPL2 Gene

Drugs & Compounds for HHIPL2 Gene

No Compound Related Data Available

Transcripts for HHIPL2 Gene

mRNA/cDNA for HHIPL2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HHIPL2

Alternative Splicing Database (ASD) splice patterns (SP) for HHIPL2 Gene

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

Relevant External Links for HHIPL2 Gene

GeneLoc Exon Structure for
HHIPL2

Expression for HHIPL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HHIPL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for HHIPL2 Gene

This gene is overexpressed in Testis (x20.9) and Thyroid (x5.4).

Protein differential expression in normal tissues from HIPED for HHIPL2 Gene

This gene is overexpressed in Prostate (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HHIPL2 Gene



Protein tissue co-expression partners for HHIPL2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HHIPL2

SOURCE GeneReport for Unigene cluster for HHIPL2 Gene:

Hs.665660

Evidence on tissue expression from TISSUES for HHIPL2 Gene

  • Lung(4.4)
  • Muscle(4.2)
  • Thyroid gland(4.2)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with HHIPL2: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for HHIPL2 Gene

Orthologs for HHIPL2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for HHIPL2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HHIPL2 30 31
  • 99.26 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia HHIPL2 30 31
  • 86.29 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Hhipl2 30
  • 85.37 (n)
Dog
(Canis familiaris)
Mammalia HHIPL2 30 31
  • 84.98 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Hhipl2 30 17 31
  • 84.73 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 76 (a)
OneToMany
-- 31
  • 55 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia HHIPL2 31
  • 75 (a)
OneToOne
Chicken
(Gallus gallus)
Aves HHIPL2 30 31
  • 70.35 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia HHIPL2 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia hhipl2 30
  • 66.62 (n)
African clawed frog
(Xenopus laevis)
Amphibia tthu-A-prov 30
Zebrafish
(Danio rerio)
Actinopterygii LOC560376 30
  • 64.77 (n)
HHIPL2 31
  • 49 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G39970 30
  • 43.81 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
OneToMany
Species where no ortholog for HHIPL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 Vase (Ciona intestinalis)
  • 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)
  • Worm (Caenorhabditis elegans)

Evolution for HHIPL2 Gene

ENSEMBL:
Gene Tree for HHIPL2 (if available)
TreeFam:
Gene Tree for HHIPL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HHIPL2: view image

Paralogs for HHIPL2 Gene

Paralogs for HHIPL2 Gene

(2) SIMAP similar genes for HHIPL2 Gene using alignment to 1 proteins:

  • HIPL2_HUMAN
genes like me logo Genes that share paralogs with HHIPL2: view

Variants for HHIPL2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HHIPL2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs116359984 Benign: not provided 222,538,766(-) G/T
NM_024746.4(HHIPL2):c.1459C>A (p.Leu487Met)
MISSENSE
rs149523962 Benign: not provided 222,543,922(-) C/T
NM_024746.4(HHIPL2):c.589G>A (p.Val197Met)
MISSENSE
rs150982451 Benign: not provided 222,522,729(-) C/CA
NM_024746.4(HHIPL2):c.2046dup (p.Gly683fs)
FRAMESHIFT
rs183510189 Benign: not provided 222,547,820(-) G/A
NM_024746.4(HHIPL2):c.225C>T (p.Asp75=)
SYNONYMOUS
rs4846759 Benign: not provided 222,522,679(-) C/T
NM_024746.4(HHIPL2):c.2097G>A (p.Arg699=)
SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for HHIPL2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for HHIPL2 Gene

Variant ID Type Subtype PubMed ID
esv2762168 CNV loss 21179565
nsv1160091 CNV duplication 26073780

Variation tolerance for HHIPL2 Gene

Residual Variation Intolerance Score: 87.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.08; 80.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HHIPL2 Gene

Human Gene Mutation Database (HGMD)
HHIPL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HHIPL2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HHIPL2 Gene

Disorders for HHIPL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HHIPL2 Gene - From: COP

Disorder Aliases PubMed IDs
breast apocrine carcinoma
  • apocrine carcinoma of breast
mowat-wilson syndrome
  • mows
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for HHIPL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with HHIPL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HHIPL2 Gene

Publications for HHIPL2 Gene

  1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4
  2. 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 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. Widespread macromolecular interaction perturbations in human genetic disorders. (PMID: 25910212) Sahni N … Vidal M (Cell 2015) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3

Products for HHIPL2 Gene

Sources for HHIPL2 Gene