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Aliases for HHLA2 Gene

Aliases for HHLA2 Gene

  • HERV-H LTR-Associating 2 2 3 5
  • Human Endogenous Retrovirus-H Long Terminal Repeat-Associating Protein 2 3 4
  • HERV-H LTR-Associating Protein 2 3
  • B7-H5 3
  • B7-H7 3
  • B7H7 3
  • B7y 3

External Ids for HHLA2 Gene

Previous GeneCards Identifiers for HHLA2 Gene

  • GC03P104824
  • GC03U900035
  • GC03P109351
  • GC03P109342
  • GC03P109498
  • GC03P108015
  • GC03P105394

Summaries for HHLA2 Gene

Entrez Gene Summary for HHLA2 Gene

  • This gene encodes a protein ligand found on the surface of monocytes. The encoded protein is thought to regulate cell-mediated immunity by binding to a receptor on T lymphocytes and inhibiting the proliferation of these cells. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

GeneCards Summary for HHLA2 Gene

HHLA2 (HERV-H LTR-Associating 2) is a Protein Coding gene. Among its related pathways are T Cell Co-Signaling Pathway: Ligand-Receptor Interactions. An important paralog of this gene is VTCN1.

UniProtKB/Swiss-Prot for HHLA2 Gene

  • Through interaction with TMIGD2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade.

Additional gene information for HHLA2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HHLA2 Gene

Genomics for HHLA2 Gene

Regulatory Elements for HHLA2 Gene

Enhancers for HHLA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H108219 1.8 FANTOM5 Ensembl ENCODE dbSUPER 12.7 -74.3 -74265 5 HDGF PKNOX1 ATF1 ZNF133 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 HHLA2 IFT57 CD47 GC03M108125
GH03H107985 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.7 -306.4 -306440 9 PKNOX1 NFIB BMI1 NFXL1 BATF ZBTB40 RAD21 RFX5 HSF1 FOS HHLA2 LINC00636 CD47 ENSG00000279277
GH03H108052 0.9 ENCODE dbSUPER 10.4 -243.1 -243076 1 SMARCE1 HDGF PKNOX1 NFIB SIN3A MNT DPF2 ZNF217 MTA3 CTBP1 HHLA2 ENSG00000279277 GC03M108067
GH03H108406 0.9 ENCODE 9.7 +110.3 110294 0 PKNOX1 FOXA2 ARNT ARID4B FEZF1 RAD21 YY1 ZSCAN5C ZNF143 RUNX3 MYH15 HHLA2 GC03M108377 GC03M108465
GH03H108158 0.5 FANTOM5 10.2 -138.0 -138028 0 MAFK IFT57 HHLA2 MYH15 CD47 GC03M108125
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HHLA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for HHLA2 Gene

Chromosome:
3
Start:
108,296,485 bp from pter
End:
108,388,971 bp from pter
Size:
92,487 bases
Orientation:
Plus strand

Genomic View for HHLA2 Gene

Genes around HHLA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HHLA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HHLA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HHLA2 Gene

Proteins for HHLA2 Gene

  • Protein details for HHLA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UM44-HHLA2_HUMAN
    Recommended name:
    HERV-H LTR-associating protein 2
    Protein Accession:
    Q9UM44
    Secondary Accessions:
    • B4DKN2
    • D3DN60
    • Q9NWQ6

    Protein attributes for HHLA2 Gene

    Size:
    414 amino acids
    Molecular mass:
    46850 Da
    Quaternary structure:
    • Interacts with TMIGD2.
    SequenceCaution:
    • Sequence=BAA91323.1; Type=Erroneous termination; Positions=221; Note=Translated as Trp.; Evidence={ECO:0000305};

    Alternative splice isoforms for HHLA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HHLA2 Gene

Post-translational modifications for HHLA2 Gene

  • Glycosylation at posLast=9090, posLast=103103, and isoforms=2318

No data available for DME Specific Peptides for HHLA2 Gene

Domains & Families for HHLA2 Gene

Gene Families for HHLA2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for HHLA2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HHLA2: view

No data available for UniProtKB/Swiss-Prot for HHLA2 Gene

Function for HHLA2 Gene

Molecular function for HHLA2 Gene

UniProtKB/Swiss-Prot Function:
Through interaction with TMIGD2, costimulates T-cells in the context of TCR-mediated activation. Enhances T-cell proliferation and cytokine production via an AKT-dependent signaling cascade.
UniProtKB/Swiss-Prot Induction:
Up-regulated in antigen-presenting cells in response to inflammation. Induced in dendritic cells in response to IFNG, poly(I:C) or heat-killed Listeria monocytogenes (at protein level).

Gene Ontology (GO) - Molecular Function for HHLA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 23784006
genes like me logo Genes that share ontologies with HHLA2: view
genes like me logo Genes that share phenotypes with HHLA2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HHLA2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for HHLA2 Gene

Localization for HHLA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HHLA2 Gene

Membrane; Single-pass type I membrane protein.

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 HHLA2 gene
Compartment Confidence
plasma membrane 3
extracellular 3
peroxisome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for HHLA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with HHLA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for HHLA2 Gene

Pathways & Interactions for HHLA2 Gene

genes like me logo Genes that share pathways with HHLA2: view

Pathways by source for HHLA2 Gene

1 R&D Systems pathway for HHLA2 Gene

Interacting Proteins for HHLA2 Gene

Gene Ontology (GO) - Biological Process for HHLA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001819 positive regulation of cytokine production IDA 23784006
GO:0031295 T cell costimulation IDA 23784006
GO:0042104 positive regulation of activated T cell proliferation IDA 23784006
genes like me logo Genes that share ontologies with HHLA2: view

No data available for SIGNOR curated interactions for HHLA2 Gene

Drugs & Compounds for HHLA2 Gene

No Compound Related Data Available

Transcripts for HHLA2 Gene

Unigene Clusters for HHLA2 Gene

HERV-H LTR-associating 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HHLA2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for HHLA2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12
SP1:
SP2: -
SP3: - -
SP4: -
SP5:

Relevant External Links for HHLA2 Gene

GeneLoc Exon Structure for
HHLA2
ECgene alternative splicing isoforms for
HHLA2

Expression for HHLA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HHLA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for HHLA2 Gene

This gene is overexpressed in Colon - Transverse (x30.6) and Small Intestine - Terminal Ileum (x13.8).

Protein differential expression in normal tissues from HIPED for HHLA2 Gene

This gene is overexpressed in Rectum (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HHLA2 Gene



Protein tissue co-expression partners for HHLA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HHLA2 Gene:

HHLA2

SOURCE GeneReport for Unigene cluster for HHLA2 Gene:

Hs.252351

mRNA Expression by UniProt/SwissProt for HHLA2 Gene:

Q9UM44-HHLA2_HUMAN
Tissue specificity: Expressed at high levels in colon, kidney, testis, lung and pancreas, and at lower levels in small intestine, liver and skeletal muscle. In immune cells, highly expressed in B-cells, dendritic cells and macrophages. Not detected in T-cells.

Evidence on tissue expression from TISSUES for HHLA2 Gene

  • Intestine(4.2)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with HHLA2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for HHLA2 Gene

Orthologs for HHLA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HHLA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HHLA2 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HHLA2 34
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HHLA2 34
  • 35 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HHLA2 34
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves HHLA2 34
  • 37 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hhla2 33
  • 47.45 (n)
zebrafish
(Danio rerio)
Actinopterygii HHLA2 (3 of 4) 34
  • 19 (a)
OneToMany
HHLA2 (1 of 4) 34
  • 18 (a)
OneToMany
HHLA2 (2 of 4) 34
  • 17 (a)
OneToMany
HHLA2 (4 of 4) 34
  • 17 (a)
OneToMany
Species where no ortholog for HHLA2 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)
  • dog (Canis familiaris)
  • 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 HHLA2 Gene

ENSEMBL:
Gene Tree for HHLA2 (if available)
TreeFam:
Gene Tree for HHLA2 (if available)

Paralogs for HHLA2 Gene

Paralogs for HHLA2 Gene

(1) SIMAP similar genes for HHLA2 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with HHLA2: view

Variants for HHLA2 Gene

Sequence variations from dbSNP and Humsavar for HHLA2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000020648 -- 108,307,755(+) CTAAA(C/T)TACAG intron-variant
rs1000086970 -- 108,346,005(+) TGAAT(C/T)TGTGG intron-variant
rs1000109916 -- 108,377,105(+) TTATA(A/G)TGGTC intron-variant, utr-variant-3-prime
rs1000134351 -- 108,298,952(+) CTTCT(C/T)CATGG intron-variant
rs1000193117 -- 108,360,216(+) AACAC(A/G)TTTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HHLA2 Gene

Variant ID Type Subtype PubMed ID
esv3309192 CNV mobile element insertion 20981092
esv3328600 CNV duplication 20981092
esv3427359 CNV insertion 20981092
nsv1002984 CNV loss 25217958
nsv1011158 CNV gain 25217958
nsv526190 CNV gain 19592680
nsv829656 CNV loss 17160897
nsv829657 CNV gain 17160897
nsv967048 CNV duplication 23825009

Variation tolerance for HHLA2 Gene

Residual Variation Intolerance Score: 92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.31; 70.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HHLA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HHLA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HHLA2 Gene

Disorders for HHLA2 Gene

Relevant External Links for HHLA2

Genetic Association Database (GAD)
HHLA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HHLA2

No disorders were found for HHLA2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HHLA2 Gene

Publications for HHLA2 Gene

  1. Endogenous retroviruses provide the primary polyadenylation signal for two new human genes (HHLA2 and HHLA3). (PMID: 10444326) Mager DL … Freeman JD (Genomics 1999) 2 3 4 22 60
  2. B7-H5 costimulates human T cells via CD28H. (PMID: 23784006) Zhu Y … Chen L (Nature communications 2013) 2 3 4 60
  3. Evolution of the B7 family: co-evolution of B7H6 and NKp30, identification of a new B7 family member, B7H7, and of B7's historical relationship with the MHC. (PMID: 22488247) Flajnik MF … Ohta Y (Immunogenetics 2012) 2 3 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. 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 60

Products for HHLA2 Gene

Sources for HHLA2 Gene

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