ANKRD2 - ankyrin repeat domain 2 Gene

Homo sapiens

Also known as ARPP

Gene ID: 26287 | Gene type: protein coding

About ANKRD2

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:97,572,441-97,583,884 (from NCBI)

This gene has 4 transcripts (splice variants), 173 orthologues and 1 paralogue. Biased expression in heart (RPKM 16.8), kidney (RPKM 3.2) and 1 other tissue.

Summary

This gene encodes a protein that belongs to the muscle ankyrin repeat protein (MARP) family. A similar gene in rodents is a component of a muscle stress response pathway and plays a role in the stretch-response associated with slow muscle function. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

ANKRD2 Products(5)

mRNA	Protein	Name
NM_001129981.3	NP_001123453.1	ankyrin repeat domain-containing protein 2 isoform b
NM_001291218.2	NP_001278147.1	ankyrin repeat domain-containing protein 2 isoform c
NM_001291219.3	NP_001278148.2	ankyrin repeat domain-containing protein 2 isoform f
NM_001346793.2	NP_001333722.1	ankyrin repeat domain-containing protein 2 isoform e
NM_020349.4	NP_065082.2	ankyrin repeat domain-containing protein 2 isoform a

ANKRD2 Protein Structure

Ank_2

0
100
200
300
360 a.a.

Protein Preferred Names

Protein Names

ankyrin repeat domain-containing protein 2

ankyrin repeat domain 2 (stretch responsive muscle)

Related Diseases

Diseases

Alias

Neuronopathy, Distal Hereditary Motor, Type Viii

Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	HMN8
Dhmn8	Neuropathy, Distal Hereditary Motor, Type Viii
Distal Hereditary Motor Neuronopathy Type 8	Autosomal Dominant Benign Distal Spinal Muscular Atrophy
Congenital Benign Spinal Muscular Atrophy With Contractures	Congenital Nonprogressive Spinal Muscular Atrophy
Spinal Muscular Atrophy, Distal, Congenital Nonprogressive	Spinal Muscular Atrophy, Congenital Benign, With Contractures
Distal Hereditary Motor Neuropathy Type Viii	Neuronopathy, Distal Hereditary Motor, 8
Distal Spinal Muscular Atrophy, Congenital Non-Progressive	Spinal Muscular Atrophy Congenital Benign With Contractures

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

Lgmd2g	Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency
Muscular Dystrophy, Limb-Girdle, Type 2g

Tibial Muscular Dystrophy

Tmd	Udd Myopathy
Distal Titinopathy	Finnish Tibial Muscular Dystrophy
Tardive Tibial Muscular Dystrophy	Udd Type Distal Myopathy
Udd Distal Myopathy	Udd-Markesbery Muscular Dystrophy
Distal Myopathy, Udd Type	Distal Myopathies
Tibial Muscular Dystrophy, Tardive

Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant

EDMD2	Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Emd2	Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
Scapuloilioperoneal Atrophy With Cardiopathy	Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
Hauptmann-Thannhauser Muscular Dystrophy	Cardiomyopathy, Dilated, With Quadriceps Myopathy
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2	Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly	Lgmd1b, Formerly
Muscular Dystrophy, Proximal, Type 1b, Formerly	Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Lgmd1b	Limb-Girdle Muscular Dystrophy 1b
Muscular Dystrophy, Proximal, Type 1b	Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant

Myopathy, Myofibrillar, 4

Myofibrillar Myopathy 4	MFM4
Zaspopathy	Myopathy, Myofibrillar, Zasp-Related

Acute Basophilic Leukemia

Myopathy, Spheroid Body

Spheroid Body Myopathy	Autosomal Dominant Spheroid Body Myopathy
SBM

Urofacial Syndrome 1

Urofacial Syndrome	Ochoa Syndrome
Hydronephrosis With Peculiar Facial Expression	Ufs
Inverted Smile And Occult Neuropathic Bladder	Partial Facial Palsy With Urinary Abnormalities
UFS1	Urofacial Ochoa'S Syndrome
Urofacial Syndrome Type 1	Facial Palsy, Partial, With Urinary Abnormalities
Hydronephrosis-Inverted Smile	Inverted Smile-Neurogenic Bladder
Hydronephrosis-Inverted Smile Syndrome	Inverted Smile-Neurogenic Bladder Syndrome
Partial Facial Palsy Partial With Urinary Abnormalities	Urologic Diseases

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

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-RS00717	ANKRD2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ANKRD2	VGNC	VGNC:69815
Rattus norvegicus	ANKRD2	RGD	RGD:1305104
Bos taurus	ANKRD2	VGNC	VGNC:25915
Mus musculus	ANKRD2	MGD	MGI:1861447
Felis catus	ANKRD2	VGNC	VGNC:97351
Canis familiaris	ANKRD2	VGNC	VGNC:37889

Name
Email *

	Sorry, but the email address you supplied was invalid.