ANKRD2 - ankyrin repeat domain 2 Gene

Also Known as ARPP

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 26287

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

Ank_2: Ankyrin repeats (3 copies) (154 - 244)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (248 - 309)

  • 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)

ANKRD2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ANKRD2 Q9GZV1 MAPK6 Homo sapiens Q16659 32296183
Intra
ANKRD2 Q9GZV1 MAPK6 Homo sapiens Q16659 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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