HHLA2 Gene
protein-coding GIFtS: 44
GCID: GC03P108015
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HERV-H LTR-associating 2
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Aliases for HHLA2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| HERV-H LTR-Associating 21 2 | | B7H71 2 | | Human Endogenous Retrovirus-H Long Terminal Repeat-Associating Protein 22 3 | | HERV-H LTR-Associating Protein 22 |
Export aliases for HHLA2 gene to outside databasesPrevious GC identifers: GC03P104824 GC03U900035 GC03P109351 GC03P109342 GC03P109498 GC03P105394 |
Summaries for HHLA2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| -- |
Genomic Views for HHLA2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the HHLA2 gene promoter: HFH-3 RFX1 HNF-3beta NF-AT FOXI1 NF-AT4 NF-AT2 NF-AT3 IRF-7A NF-AT1 Other transcription factors
Search SABiosciences Chromatin IP Primers for HHLA2
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HHLA2 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q13.13 Ensembl cytogenetic band: 3q13.13 HGNC cytogenetic band: 3q13.13HHLA2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P108015: view genomic region
(about GC identifiers)
Start:
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108,015,376 bp from pter |
End:
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108,097,132 bp from pter |
Size:
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81,757 bases |
Orientation:
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plus strand |
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Proteins for HHLA2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: HHLA2_HUMAN, Q9UM44 (See
protein sequence)Recommended Name: HERV-H LTR-associating protein 2 precursor Size: 414 amino acids; 46850 Da
Subcellular location: Membrane; Single-pass type I membrane protein (By similarity)
Sequence caution: Sequence=BAA91323.1; Type=Erroneous termination; Positions=221; Note=Translated as Trp;
Secondary accessions: D3DN60 Q9NWQ6Explore the universe of human proteins at neXtProt for HHLA2: NX_Q9UM44
HHLA2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_009003.1 ENSEMBL proteins: ENSP00000420622 ENSP00000419940 ENSP00000418284 ENSP00000418345 ENSP00000418174 ENSP00000419911 ENSP00000350402 ENSP00000419207 ENSP00000417856 ENSP00000418797 Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005575 | cellular_component |
ND | -- | | GO:0016021 | integral to membrane |
IEA | -- |
HHLA2 for ontologies About GeneDecksing
HHLA2 Antibody Products: Assay Products for HHLA2: |
Protein
Domains / Families for HHLA2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
HHLA2 for domains About GeneDecksing
5 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9UM44ProtoNet protein and cluster: Q9UM44 1 Blocks protein family: IPB013106 Immunoglobulin V-set
UniProtKB/Swiss-Prot: HHLA2_HUMAN, Q9UM44Similarity: Contains 1 Ig-like C1-type (immunoglobulin-like) domainSimilarity: Contains 2 Ig-like V-type (immunoglobulin-like) domains |
Function for HHLA2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HHLA2 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HHLA2 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HHLA2 (NM_007072) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HHLA2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HHLA2  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHLA2 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- |
HHLA2 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for HHLA2:
|
Pathways & Interactions for HHLA2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HHLA2
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- |
HHLA2 for ontologies About GeneDecksing
|
Drugs & Compounds for HHLA2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for HHLA2 Search CenterWatch for drugs/clinical trials and news about HHLA2 
|
Transcripts for HHLA2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for HHLA2 gene: NM_007072.2 Unigene Cluster for HHLA2: HERV-H LTR-associating 2 Hs.252351 [show with all ESTs]Unigene Representative Sequence: NM_00707210 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000467282 ENST00000463019 ENST00000491820 ENST00000467562 ENST00000482430 ENST00000462629 ENST00000357759(uc003dwz.3) ENST00000467761(uc011bhl.2 uc010hpu.3 uc003dwy.4) ENST00000489514 ENST00000482099
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HHLA2 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HHLA2 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: HHLA2 (NM_007072) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for HHLA2 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HHLA2  |
Additional cDNA sequence: AF126162.1 AK000692.1 AK027132.1 AK296644.1 AK315109.1 BC035971.1 6 DOTS entries: DT.91791338 DT.91728725 DT.120841668 DT.100749399 DT.100749400 DT.100749398 24/29 AceView cDNA sequences (see all 29): BX483882 AA135407 AF126162 AA917390 BM983361 BM823273 AK000692 AK027132 BG426959 BM980981 BG431193 BQ083573 AA554037 BX483821 BC035971 AI261331 BM769580 BM980757 NM_007072 BM970569 BM969731 AI343844 BG283385 BP383085 GeneLoc Exon Structure
5 Alternative Splicing Database (ASD) splice patterns (SP) for HHLA2 About this scheme
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12 | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP3: | |   | |   | |   | - |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP4: | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP5: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   |
ECgene alternative splicing isoforms for HHLA2
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Expression for HHLA2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| HHLA2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: ACCTGCATCC
About this image See HHLA2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for HHLA2
SOURCE GeneReport for Unigene cluster: Hs.252351 UniProtKB/Swiss-Prot: HHLA2_HUMAN, Q9UM44Tissue specificity: Expressed in colon, small intestine, lung and kidney SABiosciences Custom PCR Arrays for HHLA2
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HHLA2 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat HHLA2 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HHLA2 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HHLA2 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHLA2 |
Orthologs for HHLA2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of chordates.
Orthologs for HHLA2 gene from 2/5 species (see all 5) About this table
ENSEMBL Gene Tree for HHLA2 (if available) TreeFam Gene Tree for HHLA2 (if available)  |
Paralogs for HHLA2 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for HHLA2 gene
- BTN3A22 BTN2A12 BTNL82 ERMAP2 BTN3A32 BTN2A22 CD2762 BTNL102
- MOG2 BTNL22 BTN3A12 VTCN12 BTN1A12 BTNL92 BTNL32
1 SIMAP similar gene for HHLA2 using alignment to 8 protein entries: HHLA2_HUMAN (see all proteins):CD276
HHLA2 for paralogs About GeneDecksing
|
Genomic Variants for HHLA2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 3 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for HHLA2 (108015376 - 108097132 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV) variations for HHLA2: --  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HHLA2 |
|
Disorders
/ Diseases for HHLA2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
HHLA2 for disorders About MalaCards
HHLA2 for disorders About GeneDecksing
OMIM gene information: 604371
OMIM disorders: --
Export disorders for HHLA2 gene to outside databases
|
Publications for HHLA2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for HHLA2 gene integrated from 9 sources: (articles sorted by number of sources associating them with HHLA2) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Endogenous retroviruses provide the primary polyadenylation signal for two new human genes (HHLA2 and HHLA3). (PubMed id 10444326)1, 2, 3, 9 Mager D.L.... Freeman J.D. (1999)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Evolution of the B7 family: co-evolution of B7H6 and N Kp30, identification of a new B7 family member, B7H7, and of B7's historical rel ationship with the MHC. (PubMed id 22488247)1 Flajnik M.F....Ohta Y. (2012)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
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External Searches for HHLA2 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
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Genome Databases showing HHLA2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing HHLA2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing HHLA2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for HHLA2 | Pharmacogenomics, SNPs, Pathways |
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| | |
About This Section
| Patent Information for HHLA2 gene: Search GeneIP for patents involving HHLA2
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for HHLA2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
|
 | |
 | |
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variant library, vector shuttling | | OriGene Custom Antibody Services for HHLA2 | | OriGene Custom Protein Services for HHLA2 | | OriGene Custom Immunoassay Development | | |
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| | | Search Tocris compounds for HHLA2 |
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 | | HHLA2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HHLA2 |
|  |  |  | | | ThermoFisher Antibodies for HHLA2 |
| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HHLA2 |
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