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KIR2DS4 - killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4 Gene

Also Known as KKA3; KIR1D; NKAT8; CD158I; KIR412; NKAT-8; KIR-2DS4

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3809

About KIR2DS4

Cytogenetic location: 19q13.42 Genomic coordinates (GRCh38): 19:54,832,707-54,848,575 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 55 orthologues and 25 paralogues. Low expression observed in reference dataset.

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. [provided by RefSeq, Jul 2008]

KIR2DS4 Products (3)

mRNA	Protein	Name
NM_001281971.2	NP_001268900.1	killer cell immunoglobulin-like receptor 2DS4 isoform 2 precursor
NM_001281972.2	NP_001268901.1	killer cell immunoglobulin-like receptor 2DS4 isoform 3 precursor
NM_012314.6	NP_036446.3	killer cell immunoglobulin-like receptor 2DS4 isoform 1 precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables MHC class Ib protein binding	IDA IDA: Inferred from direct assay	24018270	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19858347	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
killer cell immunoglobulin-like receptor 2DS4	CD158 antigen-like family member I

KIR2DS4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KIR2DS4	P43632	HLA-B	Homo sapiens	P01889	Affinity Chrom	19858347
Intra	KIR2DS4	P43632	HLA-C	Homo sapiens	P10321	Affinity Chrom	19858347
Intra	KIR2DS4	P43632	HLA-F	Homo sapiens	P30511	Pull Down	27649529
Intra	KIR2DS4	P43632	HLA-F	Homo sapiens	P30511	Pull Down	24018270
Intra	KIR2DS4	P43632	HLA-F	Homo sapiens	P30511	SPR	24018270

Cross: Cross-species interaction Intra: Intraspecies interaction

KIR2DS4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P89941	KIR2DS4 Antibody (YA9285)	WB, IP	human

Related Diseases

Diseases	Alias
Waardenburg'S Syndrome	Waardenburg Syndrome Van Der Hoeve Halbertsma Waardenburg Gualdi Syndrome Van Der Hoeve Halbertsona Waardenburg Syndrome Waardenburg Shah Syndrome Waardenburg, Types I And/Or Ii Mende Syndrome Waardenburgs Syndrome Waardenburg Syndrome, Type 4a
Craniofacial-Deafness-Hand Syndrome	CDHS Craniofacial Deafness Hand Syndrome Sommer-Young-Wee-Frye Syndrome Features Of Flat Facial Profile, Hypertelorism, Hypoplastic Nose With Slitlike Nares, And A Sensorineural Hearing Loss Craniofacial-Hearing Loss-Hand Syndrome
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Klippel-Feil Syndrome	Cervical Vertebral Fusion Congenital Dystrophia Brevicollis Cervical Fusion Syndrome Klippel-Feil Deformity Autosomal Dominant Klippel-Feil Syndrome Congenital Synostosis Of Cervical Vertebrae Klippel-Feil And Turner Syndrome Klippel-Feil Deformity, Deafness And Facial Asymmetry Klippel Feil Syndrome Cervical Vertebral Fusion Syndrome Dystrophia Brevicollis Congenita Fusion Of Cervical Vertebrae Kfs Klippel-Feil Sequence Vertebral Cervical Fusion Syndrome Klippel-Feil Syndrome, Autosomal Dominant Klippel-Feil Malformation Isolated Klippel-Feil Syndrome
Syphilis	Chancre Syphilitic Chancre
Embryonal Rhabdomyosarcoma	Rhabdomyosarcoma, Embryonal Rhabdomyosarcoma Embryonal Botryoid Rhabdomyosarcoma Erms Spindle Cell Rhabdomyosarcomas
Congenital Hypothyroidism	Cretinism Neonatal Hypothyroidism Ch Cht Congenital Myxedema Myxedema, Congenital Endemic Cretinism Congenital Iodine-Deficiency Syndrome Fetal Iodine Deficiency Syndrome Congenital Iodine-Deficiency Hypothyroidism Nos
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07307	KIR2DS4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown