2. Gene
  3. ANKLE2 - ankyrin repeat and LEM domain containing 2 Gene

ANKLE2 - ankyrin repeat and LEM domain containing 2 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as Lem4; LEMD7; MCPH16; KIAA0692

Gene ID: 23141 | Gene type: protein coding

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

ANKLE2 Protein Structure

LEM

LEM: LEM domain (79 - 106)

Ank_3

Ank_3: Ankyrin repeat (413 - 436)

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  • 938 a.a.
Protein Preferred Names Protein Names

ankyrin repeat and LEM domain-containing protein 2

LEM domain containing 7

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS00710 ANKLE2 Human Pre-designed siRNA Set A / 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