1. Gene
  2. ADAM22 - ADAM metallopeptidase domain 22 Gene

ADAM22 - ADAM metallopeptidase domain 22 Gene

Homo sapiens

Also known as MDC2; DEE61; EIEE61; ADAM 22

Gene ID: 53616 | Gene type: protein coding

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

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)

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  • 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