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Aliases for HHLA2 Gene

Aliases for HHLA2 Gene

  • HERV-H LTR-Associating 2 2 3
  • Human Endogenous Retrovirus-H Long Terminal Repeat-Associating Protein 2 3 4
  • HERV-H LTR-Associating Protein 2 3
  • B7H7 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. 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.

No data available for 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

Genomic Location for HHLA2 Gene

Start:
108,296,490 bp from pter
End:
108,378,285 bp from pter
Size:
81,796 bases
Orientation:
Plus strand

Genomic View for HHLA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for HHLA2 Gene at MOPED

Post-translational modifications for HHLA2 Gene

  • Glycosylation at Asn90, Asn103, and Asn318

No data available for DME Specific Peptides for HHLA2 Gene

Domains for HHLA2 Gene

Gene Families for HHLA2 Gene

HGNC:
  • C1SET :Immunoglobulin superfamily / C1-set domain containing
  • VSET :Immunoglobulin superfamily / V-set domain containing

Protein Domains for HHLA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9UM44

UniProtKB/Swiss-Prot:

HHLA2_HUMAN :
  • Q9UM44
Domain:
  • Contains 1 Ig-like C1-type (immunoglobulin-like) domain.
  • Contains 2 Ig-like V-type (immunoglobulin-like) domains.
genes like me logo Genes that share domains with HHLA2: view

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

Phenotypes for HHLA2 Gene

GenomeRNAi human phenotypes for HHLA2:
genes like me logo Genes that share phenotypes with HHLA2: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for HHLA2 Gene COMPARTMENTS Subcellular localization image for HHLA2 gene
Compartment Confidence
extracellular 3
plasma membrane 3
cytosol 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for HHLA2 Gene

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

Pathways for HHLA2 Gene

SuperPathways for HHLA2 Gene

No Data Available

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 Pathways by source for HHLA2 Gene

Transcripts for HHLA2 Gene

Unigene Clusters for HHLA2 Gene

HERV-H LTR-associating 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HHLA2

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

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 for HHLA2 Gene

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

This gene is overexpressed in Colon - Transverse (30.6) and Small Intestine - Terminal Ileum (13.8).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for HHLA2 Gene

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.
genes like me logo Genes that share expressions with HHLA2: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 36
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia HHLA2 36
  • 64 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia HHLA2 36
  • 35 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HHLA2 36
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves HHLA2 36
  • 37 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia hhla2 35
  • 47.45 (n)
  • 36.3 (a)
zebrafish
(Danio rerio)
Actinopterygii HHLA2 (1 of 4) 36
  • 18 (a)
OneToMany
HHLA2 (2 of 4) 36
  • 17 (a)
OneToMany
HHLA2 (3 of 4) 36
  • 19 (a)
OneToMany
HHLA2 (4 of 4) 36
  • 17 (a)
OneToMany
Species with no ortholog for HHLA2:
  • 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

Selected 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 MAF
rs752179 -- 108,305,223(+) TTTAT(A/T)TGGGA intron-variant
rs768342 -- 108,296,400(-) CAGAT(A/C)TGAAA upstream-variant-2KB
rs936260 -- 108,345,137(-) ATCCT(C/G)CTTCT intron-variant
rs936261 -- 108,345,011(-) TTGAA(C/T)AGGAA intron-variant
rs936262 -- 108,344,756(-) AACAC(A/G)GCAGA intron-variant

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

Variant ID Type Subtype PubMed ID
nsv829656 CNV Loss 17160897
nsv829657 CNV Gain 17160897
esv273465 CNV Insertion 20981092
nsv526190 CNV Gain 19592680

Relevant External Links for HHLA2 Gene

HapMap Linkage Disequilibrium report
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
genes like me logo Genes that share disorders with HHLA2: view

No data available for UniProtKB/Swiss-Prot 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 D.L. … Freeman J.D. (Genomics 1999) 2 3 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. B7-H5 costimulates human T cells via CD28H. (PMID: 23784006) Zhu Y. … Chen L. (Nat Commun 2013) 3 4
  5. The DNA sequence, annotation and analysis of human chromosome 3. (PMID: 16641997) Muzny D.M. … Gibbs R.A. (Nature 2006) 4

Products for HHLA2 Gene

Sources for HHLA2 Gene

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