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HHLA2 HERV-H LTR-associating 2 [ Homo sapiens (human) ]

Gene ID: 11148, updated on 1-Jun-2020

Summary

Official Symbol
HHLA2provided by HGNC
Official Full Name
HERV-H LTR-associating 2provided by HGNC
Primary source
HGNC:HGNC:4905
See related
Ensembl:ENSG00000114455 MIM:604371
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
B7y; B7H7; B7-H5; B7-H7
Summary
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]
Expression
Biased expression in small intestine (RPKM 36.3), colon (RPKM 25.6) and 4 other tissues See more
Orthologs

Genomic context

See HHLA2 in Genome Data Viewer
Location:
3q13.13
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (108296490..108378285)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (108015353..108097132)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1215 Neighboring gene intraflagellar transport 57 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 17 Neighboring gene myosin heavy chain 15 Neighboring gene ribosomal protein L13 pseudogene 8 Neighboring gene cellular inhibitor of PP2A

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
signaling receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
T cell costimulation IDA
Inferred from Direct Assay
more info
PubMed 
T cell receptor signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of activated T cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cytokine production IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cytokine production IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
external side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
HERV-H LTR-associating protein 2
Names
human endogenous retrovirus-H long terminal repeat-associating protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001282556.1NP_001269485.1  HERV-H LTR-associating protein 2 isoform a precursor

    See identical proteins and their annotated locations for NP_001269485.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the use of an alternate promoter and differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein (isoform a).
    Source sequence(s)
    AC078855, AC135308, AK000692, BM980981, BP293912
    Consensus CDS
    CCDS46883.1
    UniProtKB/Swiss-Prot
    Q9UM44
    Related
    ENSP00000419207.1, ENST00000467761.5
    Conserved Domains (2) summary
    pfam07686
    Location:231330
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:47125
    Ig; Immunoglobulin domain
  2. NM_001282557.1NP_001269486.1  HERV-H LTR-associating protein 2 isoform a precursor

    See identical proteins and their annotated locations for NP_001269486.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the use of an alternate promoter and differs in the 5' UTR, compared to variant 1. Variants 1, 2 and 3 encode the same protein (isoform a).
    Source sequence(s)
    AC135308, AF126162, BM980981
    Consensus CDS
    CCDS46883.1
    UniProtKB/Swiss-Prot
    Q9UM44
    Related
    ENSP00000417856.2, ENST00000489514.6
    Conserved Domains (2) summary
    pfam07686
    Location:231330
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:47125
    Ig; Immunoglobulin domain
  3. NM_001282558.1NP_001269487.1  HERV-H LTR-associating protein 2 isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the use of an alternate promoter, differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The encoded protein (isoform b) is shorter than isoform a.
    Source sequence(s)
    AC078855, AC135308, AK315109, BC035971, BM980981, BP293912
    Consensus CDS
    CCDS74975.1
    UniProtKB/Swiss-Prot
    Q9UM44
    UniProtKB/TrEMBL
    C9J7D0
    Related
    ENSP00000418284.1, ENST00000491820.5
    Conserved Domains (4) summary
    cd00098
    Location:140225
    IgC; Immunoglobulin Constant domain
    smart00410
    Location:237334
    IG_like; Immunoglobulin like
    pfam07686
    Location:231330
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:61122
    Ig; Immunoglobulin domain
  4. NM_001282559.1NP_001269488.1  HERV-H LTR-associating protein 2 isoform c

    See identical proteins and their annotated locations for NP_001269488.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) represents the use of an alternate promoter, and has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at an alternate start codon, compared to variant 1. The encoded protein (isoform c) has a distinct N-terminus and is shorter than isoform a.
    Source sequence(s)
    AC078855, AC135308, AK296644, BC035971, BM980981, BP293912
    Consensus CDS
    CCDS63713.1
    UniProtKB/Swiss-Prot
    Q9UM44
    Related
    ENSP00000418345.1, ENST00000467562.5
    Conserved Domains (3) summary
    cd00098
    Location:76161
    IgC; Immunoglobulin Constant domain
    smart00410
    Location:173270
    IG_like; Immunoglobulin like
    pfam07686
    Location:167266
    V-set; Immunoglobulin V-set domain
  5. NM_001370244.1NP_001357173.1  HERV-H LTR-associating protein 2 isoform a precursor

    Status: REVIEWED

    Source sequence(s)
    AC078855, AC135308
    Conserved Domains (2) summary
    pfam07686
    Location:231330
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:47125
    Ig; Immunoglobulin domain
  6. NM_007072.3NP_009003.1  HERV-H LTR-associating protein 2 isoform a precursor

    See identical proteins and their annotated locations for NP_009003.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1, 2 and 3 encode the same protein.
    Source sequence(s)
    AC078855, AC135308, BC035971, BM980981
    Consensus CDS
    CCDS46883.1
    UniProtKB/Swiss-Prot
    Q9UM44
    Related
    ENSP00000350402.5, ENST00000357759.9
    Conserved Domains (2) summary
    pfam07686
    Location:231330
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:47125
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    108296490..108378285
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512363.2XP_011510665.1  HERV-H LTR-associating protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011510665.1

    Conserved Domains (2) summary
    pfam07686
    Location:231330
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:47125
    Ig; Immunoglobulin domain
  2. XM_005247080.3XP_005247137.1  HERV-H LTR-associating protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005247137.1

    UniProtKB/Swiss-Prot
    Q9UM44
    Related
    ENSP00000482187.1, ENST00000619531.4
    Conserved Domains (2) summary
    pfam07686
    Location:231330
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:47125
    Ig; Immunoglobulin domain
  3. XM_011512362.2XP_011510664.1  HERV-H LTR-associating protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011510664.1

    Conserved Domains (2) summary
    pfam07686
    Location:231330
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:47125
    Ig; Immunoglobulin domain
  4. XM_011512367.3XP_011510669.1  HERV-H LTR-associating protein 2 isoform X3

    Conserved Domains (4) summary
    cd00098
    Location:140225
    IgC; Immunoglobulin Constant domain
    smart00410
    Location:237334
    IG_like; Immunoglobulin like
    pfam07686
    Location:231330
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:61122
    Ig; Immunoglobulin domain
  5. XM_011512364.2XP_011510666.1  HERV-H LTR-associating protein 2 isoform X1

    See identical proteins and their annotated locations for XP_011510666.1

    Conserved Domains (2) summary
    pfam07686
    Location:231330
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:47125
    Ig; Immunoglobulin domain
  6. XM_024453326.1XP_024309094.1  HERV-H LTR-associating protein 2 isoform X1

    Conserved Domains (2) summary
    pfam07686
    Location:231330
    V-set; Immunoglobulin V-set domain
    cl11960
    Location:47125
    Ig; Immunoglobulin domain
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