AK2 - adenylate kinase 2 Gene

Homo sapiens

Also known as ADK2

Gene ID: 204 | Gene type: protein coding

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

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-161512	hAChE/hBACE-1-IN-4	Inhibitor	/	Unkown
HY-RS00506	AK2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04243	EIF2AK2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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