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KIR2DS2 killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2 [ Homo sapiens (human) ]

Gene ID: 100132285, updated on 2-Nov-2024

Summary

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Official Symbol
KIR2DS2provided by HGNC
Official Full Name
killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 2provided by HGNC
Primary source
HGNC:HGNC:6334
See related
MIM:604953; AllianceGenome:HGNC:6334
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
NKAT5; cl-49; CD158J; CD158b; NKAT-5; 183ActI; KIR2DL1; KIR-2DS2
Summary
Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]
Annotation information
Annotation category: only annotated on alternate loci and patches unit in reference assembly
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Genomic context

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See KIR2DS2 in Genome Data Viewer
Location:
19q13.4
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_35) NT_113949.2 (122955..137288, complement)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_10) NT_187636.1 (194387..208721, complement)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_12) NT_187638.1 (102583..116917, complement)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_14) NT_187640.1 (149814..164148, complement)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_16) NT_187642.1 (101103..115438, complement)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_18) NT_187644.1 (130021..144356, complement)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_20) NT_187668.1 (150766..165100, complement)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_22) NT_187670.1 (130109..144444, complement)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_27) NT_187675.1 (37026..51360)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_29) NT_187677.1 (29469..43805)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_33) NT_187686.1 (161263..175597, complement)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (ALT_REF_LOCI_8) NW_003571061.2 (464529..478864)
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 (PATCHES) NW_016107312.1 (124734..139068, complement)

NT_187636.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

NT_187638.1Genomic Context describing neighboring genes Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

NT_187640.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

NT_187642.1Genomic Context describing neighboring genes Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

NT_187644.1Genomic Context describing neighboring genes Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

NT_187668.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

NT_187670.1Genomic Context describing neighboring genes Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:55246834-55248033 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

NT_187675.1Genomic Context describing neighboring genes Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 3

NT_187677.1Genomic Context describing neighboring genes Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1

NT_187686.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 5 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 5B Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

NT_113949.2Genomic Context describing neighboring genes Neighboring gene putative killer cell immunoglobulin-like receptor like protein KIR3DP1 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2

NW_003571061.2Genomic Context describing neighboring genes Neighboring gene leukocyte immunoglobulin-like receptor pseudogene 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3 Neighboring gene killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2 Neighboring gene killer cell immunoglobulin like receptor, three Ig domains pseudogene 1

NW_016107312.1Genomic Context describing neighboring genes Neighboring gene killer cell immunoglobulin-like receptor 2DS5 Neighboring gene killer cell immunoglobulin-like receptor 2DL5A Neighboring gene killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Large spectrum of HLA-C recognition by killer Ig-like receptor (KIR)2DL2 and KIR2DL3 and restricted C1 SPECIFICITY of KIR2DS2: dominant impact of KIR2DL2/KIR2DS2 on KIR2D NK cell repertoire formation. David G, et al. J Immunol, 2013 Nov 1. PMID 24078689
  2. KIR and HLA interactions are associated with control of primary CMV infection in solid organ transplant recipients. van Duin D, et al. Am J Transplant, 2014 Jan. PMID 24369024
  3. Humans differ from other hominids in lacking an activating NK cell receptor that recognizes the C1 epitope of MHC class I. Moesta AK, et al. J Immunol, 2010 Oct 1. PMID 20802150, Free PMC Article
  4. Combination of human leukocyte antigen and killer cell immunoglobulin-like receptor genetic background influences the onset age of hepatocellular carcinoma in male patients with hepatitis B virus infection. Pan N, et al. Clin Dev Immunol, 2013. PMID 24312130, Free PMC Article
  5. NK cells with KIR2DS2 immunogenotype have a functional activation advantage to efficiently kill glioblastoma and prolong animal survival. Gras Navarro A, et al. J Immunol, 2014 Dec 15. PMID 25381437, Free PMC Article

See all (163) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Evaluation of the genetic diversity of KIR genes in patients with endometrial cancer.
    Title: Evaluation of the genetic diversity of KIR genes in patients with endometrial cancer.
  2. KIR2DS2 Expression Identifies NK Cells With Enhanced Anticancer Activity.
    Title: KIR2DS2 Expression Identifies NK Cells With Enhanced Anticancer Activity.
  3. Killer Cell Immunoglobulin-Like Receptor Haplotype B Modulates Susceptibility to EBV-Associated Classic Hodgkin Lymphoma.
    Title: Killer Cell Immunoglobulin-Like Receptor Haplotype B Modulates Susceptibility to EBV-Associated Classic Hodgkin Lymphoma.
  4. Clinical and histopathological changes in different KIR gene profiles in chronic HCV Romanian patients.
    Title: Clinical and histopathological changes in different KIR gene profiles in chronic HCV Romanian patients.
  5. The combination KIR2DS2/KIR2DL2/C1 correlated with severe Alzheimer's Disease status and an increased susceptibility to HHV-6A infection.
    Title: KIR2DS2/KIR2DL2/HLA-C1 Haplotype Is Associated with Alzheimer's Disease: Implication for the Role of Herpesvirus Infections.
  6. matching of KIR2DL1, 2DS1, and 2DS2 in donors with their HLA-C ligands in recipients is associated with increased GvHD, and holds potential for selection of HSCT donors.
    Title: Prognostic role of KIR genes and HLA-C after hematopoietic stem cell transplantation in a patient cohort with acute myeloid leukemia from a consanguineous community.
  7. The multivariate analysis revealed that the lack of KIR2DS2 (p = 0.035), the presence of KIR2DL3 (p = 0.075), and the presence of KIR2DL2HLA-C1 (p = 0.044) were risk factors for posttransplant cytomegalovirus infection.
    Title: Killer Immunoglobulin-Like Receptor 2DS2 (KIR2DS2), KIR2DL2-HLA-C1, and KIR2DL3 as Genetic Markers for Stratifying the Risk of Cytomegalovirus Infection in Kidney Transplant Recipients.
  8. Genotypes missing these two inhibitory KIR-HLA combinations in addition to missing activating KIRs 2DS2 and 2DS3 were more common in Vogt-Koyanagi-Harada disease (OR = 1.90, P = 0.002).
    Title: KIR and HLA Genotypes Implicated in Reduced Killer Lymphocytes Immunity Are Associated with Vogt-Koyanagi-Harada Disease.
  9. KIR2DS2/HLA-C1 may correlate with Hashimoto thyroiditis in a Chinese population.
    Title: KILLER CELL IMMUNOGLOBULIN-LIKE RECEPTOR GENES AND THEIR HLA-C LIGANDS IN HASHIMOTO THYROIDITIS IN A CHINESE POPULATION.
  10. Loss of KIR2DS2 gene is associated with breast cancer.
    Title: Association of the genetic diversity of killer cell immunoglobulin-like receptor genes and HLA-C ligand in Saudi women with breast cancer.
Submit: New GeneRIF Correction See all GeneRIFs (62)

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Clone Names

  • MGC120018, MGC120020, MGC149477, MGC149478, 1060P11.9.2

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables transmembrane signaling receptor activity NAS
Non-traceable Author Statement
more info
 PubMed 
Process Evidence Code Pubs
involved_in immune response NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in immune response-regulating signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in stimulatory killer cell immunoglobulin-like receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
killer cell immunoglobulin-like receptor 2DS2
Names
CD158 antigen-like family member J
KIR2DS2 Killer-cell Immunoglobulin-like Receptor
MHC class I NK cell receptor
NK receptor 183 ActI
killer cell immunoglobulin-like receptor KIR2DS2
killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
killer-cell Ig-like receptor
killer-cell immunoglobulin-like receptor two domains short tail 2 protein
natural killer associated transcript 5
natural killer cell inhibitory receptor
p58 killer cell inhibitory receptor KIR-K7a
p58 natural killer cell receptor clone CL-49

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_005994.1 

    Range
    14509..28820
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001291695.1 → NP_001278624.1  killer cell immunoglobulin-like receptor 2DS2 isoform b precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in its 3' terminal exon, and it thus differs in the 3' coding region, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is longer than isoform a.
    Source sequence(s)
    BC108917, FR750994, L41347
    UniProtKB/TrEMBL
    A0A1W2PSB7, Q32MZ1
    Conserved Domains (2) summary
    cd05711
    Location:28 → 122
    Ig_FcalphaRI; Immunoglobulin (IG)-like domain of of FcalphaRI
    cl11960
    Location:128 → 216
    Ig; Immunoglobulin domain

  2. NM_001291696.1 → NP_001278625.1  killer cell immunoglobulin-like receptor 2DS2 isoform c precursor

    See identical proteins and their annotated locations for NP_001278625.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (c, also known as nkat5-delta-Ig1) that is shorter than isoform a.
    Source sequence(s)
    FR750994, L41347, L76668
    UniProtKB/TrEMBL
    A0A1W2PNX5, Q14950
    Conserved Domains (1) summary
    cl11960
    Location:28 → 116
    Ig; Immunoglobulin domain

  3. NM_001291700.1 → NP_001278629.1  killer cell immunoglobulin-like receptor 2DS2 isoform d precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons that encompass parts of the 5' and central coding regions, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AF074087, FR750994, L41347
    UniProtKB/TrEMBL
    O75579

  4. NM_001291701.1 → NP_001278630.1  killer cell immunoglobulin-like receptor 2DS2 isoform e precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1, resulting in an isoform (e) that is shorter than isoform a.
    Source sequence(s)
    AJ002104, FR750994, L41347
    UniProtKB/TrEMBL
    A0A0G2JPR7, O43755
    Conserved Domains (2) summary
    cd05711
    Location:28 → 122
    Ig2_LILR_KIR_like; Second immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors, natural and similar domains
    cl11960
    Location:128 → 216
    Ig; Immunoglobulin domain

  5. NM_012312.5 → NP_036444.1  killer cell immunoglobulin-like receptor 2DS2 isoform a precursor

    See identical proteins and their annotated locations for NP_036444.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes isoform a.
    Source sequence(s)
    CU467816
    UniProtKB/Swiss-Prot
    P43631, Q14955, Q6H2G9
    UniProtKB/TrEMBL
    A0A109R3B6, A0A2R4FYK5, A0A7D5BR21, D0UWM7, K7R1S5
    Conserved Domains (3) summary
    cd00096
    Location:129 → 133
    Ig; Ig strand A [structural motif]
    cd05711
    Location:28 → 122
    IgC2_D2_LILR_KIR_like; Second immunoglobulin (Ig)-like domain found in Leukocyte Ig-like receptors, Natural killer inhibitory receptors (KIRs) and similar domains; member of Immunoglobulin Constant-2 set of IgSF domains
    cl11960
    Location:128 → 216
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_016107312.1 Reference GRCh38.p14 PATCHES

    Range
    124734..139068 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_8

Genomic

  1. NW_003571061.2 Reference GRCh38.p14 ALT_REF_LOCI_8

    Range
    464529..478864
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333511.1 → XP_054189486.1  killer cell immunoglobulin-like receptor 2DS2 isoform X2

Reference GRCh38.p14 ALT_REF_LOCI_10

Genomic

  1. NT_187636.1 Reference GRCh38.p14 ALT_REF_LOCI_10

    Range
    194387..208721 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_12

Genomic

  1. NT_187638.1 Reference GRCh38.p14 ALT_REF_LOCI_12

    Range
    102583..116917 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_14

Genomic

  1. NT_187640.1 Reference GRCh38.p14 ALT_REF_LOCI_14

    Range
    149814..164148 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_16

Genomic

  1. NT_187642.1 Reference GRCh38.p14 ALT_REF_LOCI_16

    Range
    101103..115438 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_18

Genomic

  1. NT_187644.1 Reference GRCh38.p14 ALT_REF_LOCI_18

    Range
    130021..144356 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_20

Genomic

  1. NT_187668.1 Reference GRCh38.p14 ALT_REF_LOCI_20

    Range
    150766..165100 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_22

Genomic

  1. NT_187670.1 Reference GRCh38.p14 ALT_REF_LOCI_22

    Range
    130109..144444 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_27

Genomic

  1. NT_187675.1 Reference GRCh38.p14 ALT_REF_LOCI_27

    Range
    37026..51360
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_29

Genomic

  1. NT_187677.1 Reference GRCh38.p14 ALT_REF_LOCI_29

    Range
    29469..43805
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054333483.1 → XP_054189458.1  killer cell immunoglobulin-like receptor 2DS2 isoform X3

Reference GRCh38.p14 ALT_REF_LOCI_33

Genomic

  1. NT_187686.1 Reference GRCh38.p14 ALT_REF_LOCI_33

    Range
    161263..175597 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_35

Genomic

  1. NT_113949.2 Reference GRCh38.p14 ALT_REF_LOCI_35

    Range
    122955..137288 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P43631.2 GenPept UniProtKB/Swiss-Prot:P43631

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