ADAM22 - ADAM metallopeptidase domain 22 Gene

Also Known as MDC2; DEE61; EIEE61; ADAM 22

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 53616

About ADAM22

Cytogenetic location: 7q21.12 Genomic coordinates (GRCh38): 7:87,934,251-88,202,889 (from NCBI)

This gene has 14 transcripts (splice variants), 209 orthologues, 20 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 9.0), adrenal (RPKM 2.5) and 10 other tissues.

Summary

This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. Unlike Other members of the ADAM protein family, the protein encoded by this gene lacks metalloprotease activity since it has no zinc-binding motif. This gene is highly expressed in the brain and may function as an Integrin ligand in the brain. In mice, it has been shown to be essential for correct myelination in the peripheral nervous system. Alternative splicing results in several transcript variants.[provided by RefSeq, Dec 2010]

ADAM22 Products (18)

mRNA Protein Name
NM_001324417.2 NP_001311346.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 6 precursor
NM_001324418.2 NP_001311347.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 7 precursor
NM_001324419.2 NP_001311348.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 8 precursor
NM_001324420.2 NP_001311349.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 9 precursor
NM_001324421.2 NP_001311350.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 10 precursor
NM_001391975.1 NP_001378904.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 11 precursor
NM_001391976.1 NP_001378905.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 12 precursor
NM_001391977.1 NP_001378906.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 13 precursor
NM_001391978.1 NP_001378907.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 14 precursor
NM_001391979.1 NP_001378908.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 15 precursor
NM_001391980.1 NP_001378909.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 16 precursor
NM_001391981.1 NP_001378910.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 17 precursor
NM_001391982.1 NP_001378911.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 18 precursor
NM_004194.5 NP_004185.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 4 precursor
NM_016351.6 NP_057435.2 disintegrin and metalloproteinase domain-containing protein 22 isoform 3 precursor
NM_021721.5 NP_068367.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 5 precursor
NM_021722.6 NP_068368.2 disintegrin and metalloproteinase domain-containing protein 22 isoform 2 precursor
NM_021723.5 NP_068369.1 disintegrin and metalloproteinase domain-containing protein 22 isoform 1 preproprotein
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
12589811 GOA
Cellular Component GO Annotation Evidence References Source
located in plasma membrane IDA
IDA: Inferred from direct assay
27066583 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

ADAM22 Protein Structure

Pep_M12B_propep

Pep_M12B_propep: Reprolysin family propeptide (77 - 188)

Reprolysin

Reprolysin: Reprolysin (M12B) family zinc metalloprotease (239 - 438)

Disintegrin

Disintegrin: Disintegrin (453 - 528)

ADAM_CR

ADAM_CR: ADAM cysteine-rich (531 - 650)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 906 a.a.
Protein Preferred Names Protein Names

disintegrin and metalloproteinase domain-containing protein 22

  • a disintegrin and metalloproteinase domain 22

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 61
  • DEE61

  • Epileptic Encephalopathy, Early Infantile, 61

  • Eiee61

  • Developmental And Epileptic Encephalopathy, 61

  • Early Infantile Epileptic Encephalopathy 61

  • Encephalopathy, Epileptic, Early Infantile, Type 61

Limbic Encephalitis
Epilepsy, Familial Temporal Lobe, 1
  • ETL1

  • Adpeaf

  • Adlte

  • Epilepsy, Partial, With Auditory Features

  • Autosomal Dominant Partial Epilepsy With Auditory Features

  • Epilepsy, Lateral Temporal Lobe, Autosomal Dominant

  • Familial Temporal Lobe Epilepsy 1

  • Partial Epilepsy With Auditory Features

  • Autosomal Dominant Lateral Temporal Lobe Epilepsy

  • Lateral Temporal Lobe Epilepsy Autosomal Dominant

  • Epilepsy, Temporal Lobe, Familial, Type 1

Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction
  • Left Ventricular Noncompaction 3

  • Dilated Cardiomyopathy 1c

  • CMD1C

  • Cardiomyopathy, Hypertrophic, 24

  • Dilated Cardiomyopathy With Left Ventricular Noncompaction

  • Cardiomyopathy, Dilated, 1c, With Or Without Lvnc

  • Cmdc1

  • Dilated Cardiomyopathy 1c With Or Without Left Ventricular Noncompaction

  • Cardiomyopathy, Dilated 1c, With Or Without Left Ventricular Non-Compaction

  • Cardiomyopathy Dilated With Left Ventricular Noncompaction

  • Cardiomyopathy, Familial Hypertrophic 24

  • CMH24

  • Left Ventricular Non-Compaction 3

  • LVNC3

  • Cardiomyopathy, Dilated 1c

  • Familial Hypertrophic Cardiomyopathy 24

  • Cardiomyopathy, Dilated, 1c

Developmental And Epileptic Encephalopathy
  • Encephalopathy, Developmental And Epileptic

Amnestic Disorder
  • Amnesia

  • Amnestic Syndrome

  • Korsakoff'S Psychosis Or Syndrome

  • Amnesic Syndrome

  • Amnestic Disorder In Conditions Classified Elsewhere

  • Korsakoff Psychosis Or Syndrome, Nonalcoholic

  • Nonalcoholic Organic Amnesic Syndrome

  • Organic Amnesic Syndrome

Hyperekplexia
  • Hereditary Hyperekplexia

  • Kok Disease

  • Congenital Stiff Man Syndrome

  • Familial Startle Disease

  • Sthe

  • Stiff-Baby Syndrome

  • Hereditary Hyperexplexia

  • Startle Disease

  • Exaggerated Startle Reaction

  • Hyperexplexia Hereditary

  • Startle Disease, Familial

  • Startle Reaction, Exaggerated

  • Stiff-Man Syndrome, Congenital

  • Stiff-Person Syndrome, Congenital

  • Congenital Stiff-Man Syndrome

  • Congenital Stiff-Person Syndrome

  • Familial Hyperekplexia

  • Startle Syndrome

  • Stiff Baby Syndrome

  • Hyperekplexia, Hereditary

  • Stiff-Person Syndrome

Early Infantile Epileptic Encephalopathy
  • Early Infantile Epileptic Encephalopathy With Burst-Suppression

  • Early Infantile Epileptic Encephalopathy With Suppression Bursts

  • Eiee

  • Early Infantile Epileptic Encephalopathy With Suppression-Bursts

  • Ohtahara Syndrome

  • Encephalopathy, Epileptic, Early Infantile

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
Rattus norvegicus ADAM22 RGD RGD:1585016
Canis familiaris ADAM22 VGNC VGNC:37580
Felis catus ADAM22 VGNC VGNC:59580
Bos taurus ADAM22 VGNC VGNC:54401
Mus musculus ADAM22 MGD MGI:1340046
Macaca mulatta ADAM22 VGNC VGNC:69483
Others ADAM22 NCBI