AK2 - adenylate kinase 2 Gene

Also Known as ADK2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 204

About AK2

Cytogenetic location: 1p35.1 Genomic coordinates (GRCh38): 1:33,007,940-33,036,883 (from NCBI)

This gene has 24 transcripts (splice variants), 241 orthologues, 9 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 27.8), small intestine (RPKM 20.9) and 25 other tissues.

Summary

Adenylate kinases are involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. Three isozymes of adenylate kinase, namely 1, 2, and 3, have been identified in vertebrates; this gene encodes isozyme 2. Expression of these isozymes is tissue-specific and developmentally regulated. Isozyme 2 is localized in the mitochondrial intermembrane space and may play a role in Apoptosis. Mutations in this gene are the cause of reticular dysgenesis. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 1 and 2.[provided by RefSeq, Nov 2010]

AK2 Products (8)

mRNA	Protein	Name
NM_001199199.3	NP_001186128.1	adenylate kinase 2, mitochondrial isoform c
NM_001319139.3	NP_001306068.1	adenylate kinase 2, mitochondrial isoform d
NM_001319140.2	NP_001306069.1	adenylate kinase 2, mitochondrial isoform e
NM_001319141.3	NP_001306070.1	adenylate kinase 2, mitochondrial isoform f
NM_001319142.3	NP_001306071.1	adenylate kinase 2, mitochondrial isoform g
NM_001319143.2	NP_001306072.1	adenylate kinase 2, mitochondrial isoform h
NM_001625.4	NP_001616.1	adenylate kinase 2, mitochondrial isoform a
NM_013411.5	NP_037543.1	adenylate kinase 2, mitochondrial isoform b

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables adenylate kinase activity	EXP EXP: Inferred from Experiment	6182143	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	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

AK2 Protein Structure

ADK

ADK_lid

0
100
200
239 a.a.

Protein Preferred Names	Protein Names
adenylate kinase 2, mitochondrial	ATP-AMP transphosphorylase 2

AK2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	AK2	P54819	TGFBR2	Homo sapiens	P37173	Y2H Pooling	32814053
Intra	AK2	P54819	TGFBR2	Homo sapiens	P37173	Validated Y2H	32814053
Intra	AK2	P54819	TGFBR2	Homo sapiens	P37173	Y2H Array	32814053
Intra	AK2	P54819	VIM	Homo sapiens	P08670	Validated Y2H	32814053
Intra	AK2	P54819	VIM	Homo sapiens	P08670	Y2H Array	32814053
Intra	AK2	P54819	VIM	Homo sapiens	P08670	Y2H Pooling	32814053
Intra	AK2	P54819	PRKACA	Homo sapiens	P17612	Y2H Pooling	32814053
Intra	AK2	P54819	PRKACA	Homo sapiens	P17612	Validated Y2H	32814053
Intra	AK2	P54819	PRKACA	Homo sapiens	P17612	Y2H Array	32814053
Intra	AK2	P54819	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Pooling	32814053
Intra	AK2	P54819	PMP22	Homo sapiens	A0A6Q8PF08	Validated Y2H	32814053
Intra	AK2	P54819	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Array	32814053
Intra	AK2	P54819	PECAM1	Homo sapiens	P16284	Y2H Pooling	32814053
Intra	AK2	P54819	PECAM1	Homo sapiens	P16284	Validated Y2H	32814053
Intra	AK2	P54819	PECAM1	Homo sapiens	P16284	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

AK2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82946	AK2 Antibody (YA2691)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse, Rat
HY-P82946A	AK2 Antibody (YA2691)(PBS only)	WB, IHC-F, IHC-P, ICC/IF, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Reticular Dysgenesis	Severe Combined Immunodeficiency With Leukopenia De Vaal Disease Congenital Aleukia Aleukocytosis Hematopoietic Hypoplasia, Generalized Reticular Dysgenesia Devaal Disease Rd Ak2 Deficiency Congenital Aleukocytosis Generalized Hematopoietic Hypoplasia Scid With Leukopenia RDYS
Severe Combined Immunodeficiency	Scid Severe Combined Immunodeficiency Disease Combined T And B Cell Inborn Immunodeficiency Immunodeficiency, Severe Combined Scid - [Severe Combined Immunodeficiencies]
Combined Immunodeficiency	Combined T Cell And B Cell Immunodeficiency Congenital Combined Immunodeficiency Syndrome With Combined Immunodeficiency Combined T And B Cell Immunodeficiency Combined Immunity Deficiency Combined Immunodeficiency Syndrome Combined T-Cell And B-Cell Immunodeficiency Lymphopenic Agammaglobulinaemia
Coronin-1a Deficiency
Immunodeficiency 11b With Atopic Dermatitis	IMD11B Atopic Dermatitis, Elevated Ige, And Eosinophilia Immunodeficiency 11b
Omenn Syndrome	Histiocytic Medullary Reticulosis Severe Combined Immunodeficiency With Hypereosinophilia Combined Immunodeficiency With Hypereosinophilia Reticuloendotheliosis, Familial, With Eosinophilia Reticuloendotheliosis Familial With Eosinophilia Familial Reticuloendotheliosis Omenn'S Syndrome OS Malignant Histiocytosis
Adenosine Deaminase Deficiency	Ada Deficiency Ada-Scid Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency Adenosine Deaminase Deficient Severe Combined Immunodeficiency Scid Due To Ada Deficiency Severe Combined Immunodeficiency Due To Ada Deficiency Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency Ada Scid Due To Adenosine Deaminase Deficiency
Purine Nucleoside Phosphorylase Deficiency	Purine-Nucleoside Phosphorylase Deficiency Pnp Deficiency Nucleoside Phosphorylase Deficiency Immunodeficiency Due To Purine Nucleoside Phosphorylase Deficiency Deficiency Of Inosine Phosphorylase Pnpase Deficiency PNPD
Bare Lymphocyte Syndrome, Type Ii	Mhc Class Ii Deficiency Bare Lymphocyte Syndrome Major Histocompatibility Complex Class Ii Deficiency Bare Lymphocyte Syndrome 2 Bare Lymphocyte Syndrome Type 2 Severe Combined Immunodeficiency, Hla Class Ii-Negative Bare Lymphocyte Syndrome, Type Ii, Complementation Group C Bare Lymphocyte Syndrome, Type Ii, Complementation Group D Bare Lymphocyte Syndrome Type Ii Scid, Hla Class Ii-Negative Bare Lymphocyte Syndrome, Type Ii, Complementation Group A Bare Lymphocyte Syndrome, Type Ii, Complementation Group B Scid Due To Absent Class Ii Hla Antigens Hla Class 1 Deficiency Scid, Hla Class 2-Negative Bls Type Ii Bare Lymphocyte Syndrome Type 2, Complementation Group A Bare Lymphocyte Syndrome Type 2, Complementation Group E Severe Combined Immunodeficiency Bls, Type Ii Bls Bare Lymphocyte Syndrome, Type Ii, Complementation Group E Blsii Bls Type 1 Bls 2 Scid Due To Absence Of Class Ii Hla Antigens Severe Combined Immunodeficiency Due To Absent Class Ii Human Leukocyte Antigens Immunodeficiency By Defective Expression Of Mhc Class Ii BLS2 Bare Lymphocyte Syndrome Type Ii Complementation Group A Bare Lymphocyte Syndrome Type Ii Complementation Group B Bare Lymphocyte Syndrome Type Ii Complementation Group C Bare Lymphocyte Syndrome Type Ii Complementation Group D Bare Lymphocyte Syndrome Type Ii Complementation Group E Bls Ii Hereditary Mhc Class Ii Deficiency Hla Class Ii Deficient Combined Immunodeficiency Mhc-Ii Deficiency Scid Hla Class Ii-Negative Severe Combined Immunodeficiency Hla Class Ii-Negative Bl-2 Immunodeficiency By Defective Expression Of Hla Class 2 Hla Class 2-Negative Severe Combined Immunodeficiency
Purine-Pyrimidine Metabolic Disorder	Inborn Errors Of Purine-Pyrimidine Metabolism Disorder Of Purine Or Pyrimidine Metabolism
Severe Congenital Neutropenia	Congenital Neutropenia Neutropenia, Severe Congenital Congenital Agranulocytosis Infantile Genetic Agranulocytosis Kostmann Disease Kostmann'S Agranulocytosis Kostmann'S Syndrome Severe Infantile Genetic Neutropenia

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 (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-133870	Itaconate-alkyne		98.01%	Unkown
HY-118674	AK-2-38	Antagonist	/	Unkown
HY-161512	hAChE/hBACE-1-IN-4	Inhibitor	/	Unkown
HY-174999	JAK3-IN-18	Inhibitor	/	Unkown
HY-178936	JAK2-IN-15	Inhibitor	/	Unkown
HY-RS00506	AK2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04243	EIF2AK2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-174720	Human EIF2AK2 mRNA		/	Unkown
HY-RS18207	Eif2ak2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18730	Ak2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24684	Eif2ak2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25217	Ak2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	AK2	VGNC	VGNC:37746
Mus musculus	AK2	MGD	MGI:87978
Bos taurus	AK2	VGNC	VGNC:25771
Felis catus	AK2	VGNC	VGNC:59706
Macaca mulatta	AK2	VGNC	VGNC:69761
Rattus norvegicus	AK2	RGD	RGD:2077
Others	AK2	NCBI