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ANKLE2 - ankyrin repeat and LEM domain containing 2 Gene

Also Known as Lem4; LEMD7; MCPH16; KIAA0692

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23141

About ANKLE2

Cytogenetic location: 12q24.33 Genomic coordinates (GRCh38): 12:132,725,503-132,761,832 (from NCBI)

This gene has 12 transcripts (splice variants), 222 orthologues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 31.1), lymph node (RPKM 13.1) and 25 other tissues.

Summary

This gene encodes a member of the LEM family of inner nuclear membrane proteins. The encoded protein functions as a mitotic regulator through postmitotic formation of the nuclear envelope. Mutations in this gene cause morphology defects in the nuclear envelope and BAF hyperphosphorylation. [provided by RefSeq, Mar 2014]

ANKLE2 Products (1)

mRNA	Protein	Name
NM_015114.3	NP_055929.1	ankyrin repeat and LEM domain-containing protein 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22770216	GOA
enables protein phosphatase 2A binding	IDA IDA: Inferred from direct assay	22770216	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in central nervous system development	IDA IDA: Inferred from direct assay	25259927	GOA
involved in mitotic nuclear membrane reassembly	IMP IMP: Inferred from mutant phenotype	22770216	GOA
involved in negative regulation of apoptotic process	IDA IDA: Inferred from direct assay	25259927	GOA
involved in negative regulation of phosphorylation	IDA IDA: Inferred from direct assay	22770216	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	22770216	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

ANKLE2 Protein Structure

LEM

Ank_3

0
200
400
600
800
938 a.a.

Protein Preferred Names	Protein Names
ankyrin repeat and LEM domain-containing protein 2	LEM domain containing 7

ANKLE2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	ANKLE2	Q86XL3	vrk-1	Caenorhabditis elegans	Q19848	Pull Down	22770216

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Microcephaly 16, Primary, Autosomal Recessive	MCPH16 Primary Autosomal Recessive Microcephaly 16
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Leukoencephalopathy With Vanishing White Matter	Cree Leukoencephalopathy Vanishing White Matter Disease Ovarioleukodystrophy Vanishing White Matter Leukodystrophy Childhood Ataxia With Central Nervous System Hypomyelinization Cach Cach Syndrome Myelinosis Centralis Diffusa VWM Cle Childhood Ataxia With Central Nervous System Hypomyelination Childhood Ataxia With Diffuse Central Nervous System Hypomyelination Cach/Vwm Cach/Vwm Syndrome Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter Cree Leukoencehalopathy Late Infantile Cach Syndrome Juvenile Or Adult Cach Syndrome Congenital Or Early Infantile Cach Syndrome Leukodystrophy With Vanishing White Matter
Hypotonia
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Microcephaly 10, Primary, Autosomal Recessive	MCPH10 Microcephalic Primordial Dwarfism Due To Znf335 Deficiency Primary Autosomal Recessive Microcephaly 10 Microcephalic Primordial Dwarfism, Walsh Type Microcephaly, Type 10, Primary, Autosomal Recessive
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities	Microcephaly 15, Primary, Autosomal Recessive NEDMISBA Mcph15 Primary Autosomal Recessive Microcephaly 15 Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Abnormalities
Microcephaly 19, Primary, Autosomal Recessive	MCPH19 Primary Autosomal Recessive Microcephaly 19 Microcephaly, Type 19, Primary, Autosomal Recessive
Microcephaly 13, Primary, Autosomal Recessive	MCPH13 Primary Autosomal Recessive Microcephaly 13 Microcephaly, Type 13, Primary, Autosomal Recessive
Microcephaly 18, Primary, Autosomal Dominant	MCPH18 Primary Autosomal Dominant Microcephaly 18
Microcephaly 11, Primary, Autosomal Recessive	MCPH11 Primary Autosomal Recessive Microcephaly 11 Microcephaly, Type 11, Primary, Autosomal Recessive
Microcephaly 17, Primary, Autosomal Recessive	MCPH17 Primary Autosomal Recessive Microcephaly 17
Microcephaly 14, Primary, Autosomal Recessive	MCPH14 Primary Autosomal Recessive Microcephaly 14 Microcephaly, Type 14, Primary, Autosomal Recessive
Chromosome 16p11.2 Duplication Syndrome	Proximal 16p11.2 Microduplication Syndrome Proximal Dup(16)(P11.2) Proximal Trisomy 16p11.2 Autism, Susceptibility To, 14b Autism 14b
Microcephaly 5, Primary, Autosomal Recessive	MCPH5 Primary Autosomal Recessive Microcephaly 5 Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern Microcephaly, Primary Autosomal Recessive, 5
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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-RS00710	ANKLE2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ANKLE2	VGNC	VGNC:108287
Mus musculus	ANKLE2	MGD	MGI:1261856
Canis familiaris	ANKLE2	VGNC	VGNC:37876
Rattus norvegicus	ANKLE2	RGD	RGD:1310191
Bos taurus	ANKLE2	VGNC	VGNC:25904
Felis catus	ANKLE2	VGNC	VGNC:59792
Others	ANKLE2	NCBI