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

Homo sapiens

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

Gene ID: 3809 | Gene type: protein coding

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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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

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

Bioactive Molecules (1)

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

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