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ADAM22 ADAM metallopeptidase domain 22 [ Homo sapiens (human) ]

Gene ID: 53616, updated on 1-Jun-2020

Summary

Official Symbol
ADAM22provided by HGNC
Official Full Name
ADAM metallopeptidase domain 22provided by HGNC
Primary source
HGNC:HGNC:201
See related
Ensembl:ENSG00000008277 MIM:603709
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MDC2; EIEE61; ADAM 22
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]
Expression
Biased expression in brain (RPKM 9.0), adrenal (RPKM 2.5) and 10 other tissues See more
Orthologs

Genomic context

See ADAM22 in Genome Data Viewer
Location:
7q21.12
Exon count:
35
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (87934143..88202889)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (87563566..87832204)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene solute carrier family 25 member 40 Neighboring gene origin of replication in promoter of DBF4 Neighboring gene DBF4 zinc finger Neighboring gene uncharacterized LOC105375386 Neighboring gene SRI antisense RNA 1 Neighboring gene sorcin Neighboring gene STEAP4 metalloreductase

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Early infantile epileptic encephalopathy 61
MedGen: C4693688 OMIM: 617933 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of serious blistering skin rash caused by drugs.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC149832

Gene Ontology Provided by GOA

Function Evidence Code Pubs
integrin binding NAS
Non-traceable Author Statement
more info
PubMed 
metalloendopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
adult locomotory behavior IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IEA
Inferred from Electronic Annotation
more info
 
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
myelination in peripheral nervous system IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell adhesion NAS
Non-traceable Author Statement
more info
PubMed 
neurotransmitter receptor localization to postsynaptic specialization membrane IEA
Inferred from Electronic Annotation
more info
 
proteolysis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axon ISS
Inferred from Sequence or Structural Similarity
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of postsynaptic density membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
disintegrin and metalloproteinase domain-containing protein 22
Names
a disintegrin and metalloproteinase domain 22
metalloproteinase-disintegrin ADAM22-3
metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001324417.2NP_001311346.1  disintegrin and metalloproteinase domain-containing protein 22 isoform 6 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) encodes isoform 6. The encoded isoform (6) may undergo proteolytic processing.
    Source sequence(s)
    AC004992, AC005075, AC005164, DR000609, R41888
  2. NM_001324418.2NP_001311347.1  disintegrin and metalloproteinase domain-containing protein 22 isoform 7 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) encodes isoform 7. The encoded isoform (7) may undergo proteolytic processing.
    Source sequence(s)
    AC004992, AC005075, AC005164, DR000609, R41888
  3. NM_001324419.2NP_001311348.1  disintegrin and metalloproteinase domain-containing protein 22 isoform 8 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) encodes isoform 8. The encoded isoform (8) may undergo proteolytic processing.
    Source sequence(s)
    AC004992, AC005075, AC005164, DR000609, R41888
  4. NM_001324420.2NP_001311349.1  disintegrin and metalloproteinase domain-containing protein 22 isoform 9 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) encodes isoform 9. The encoded isoform (9) may undergo proteolytic processing.
    Source sequence(s)
    AC004992, AC005075, AC005164, DR000609, R41888
  5. NM_001324421.2NP_001311350.1  disintegrin and metalloproteinase domain-containing protein 22 isoform 10 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) encodes isoform 10. The encoded isoform (10) may undergo proteolytic processing.
    Source sequence(s)
    AC004992, AC005075, AC005164, DR000609, R41888
  6. NM_004194.4NP_004185.1  disintegrin and metalloproteinase domain-containing protein 22 isoform 4 precursor

    See identical proteins and their annotated locations for NP_004185.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), also known as beta, uses an alternate splice site in the 3' coding region and lacks two downstream exons, compared to variant 1. The resulting protein (isoform 4) has a shorter and distinct C-terminus, compared to isoform 1. The encoded isoform (4) may undergo proteolytic processing.
    Source sequence(s)
    AB009671, DR000609
    Consensus CDS
    CCDS43610.1
    UniProtKB/Swiss-Prot
    Q9P0K1
    Related
    ENSP00000381260.4, ENST00000398201.8
    Conserved Domains (5) summary
    smart00608
    Location:530671
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:239436
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:453527
    Disintegrin; Disintegrin
    pfam01421
    Location:239438
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:75187
    Pep_M12B_propep; Reprolysin family propeptide
  7. NM_016351.6NP_057435.2  disintegrin and metalloproteinase domain-containing protein 22 isoform 3 precursor

    See identical proteins and their annotated locations for NP_057435.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), also known as alpha, lacks an in-frame exon compared to variant 1. The encoded isoform (3) is shorter than isoform 1. The encoded isoform (3) may undergo proteolytic processing.
    Source sequence(s)
    AC005075, AC005164, AK291010, DR000609, R41888
    Consensus CDS
    CCDS43609.1
    UniProtKB/TrEMBL
    Q08AL8
    Related
    ENSP00000381262.4, ENST00000398204.8
    Conserved Domains (5) summary
    smart00608
    Location:530671
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:239436
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:453527
    Disintegrin; Disintegrin
    pfam01421
    Location:239438
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:75187
    Pep_M12B_propep; Reprolysin family propeptide
  8. NM_021721.4NP_068367.1  disintegrin and metalloproteinase domain-containing protein 22 isoform 5 precursor

    See identical proteins and their annotated locations for NP_068367.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 3' coding region and lacks one coding and two non-coding exons, compared to variant 1. The resulting protein (isoform 5) has a shorter and distinct C-terminus, compared to isoform 1. The encoded isoform (5) may undergo proteolytic processing.
    Source sequence(s)
    AB009671, AF155381, DR000609
    UniProtKB/Swiss-Prot
    Q9P0K1
    Conserved Domains (5) summary
    smart00608
    Location:530671
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:239436
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:453527
    Disintegrin; Disintegrin
    pfam01421
    Location:239438
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:75187
    Pep_M12B_propep; Reprolysin family propeptide
  9. NM_021722.6NP_068368.2  disintegrin and metalloproteinase domain-containing protein 22 isoform 2 precursor

    See identical proteins and their annotated locations for NP_068368.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2), also known as delta, has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1. The encoded isoform (2) may undergo proteolytic processing.
    Source sequence(s)
    AC005075, AF155381, DR000609, R41888
    Consensus CDS
    CCDS43608.1
    UniProtKB/Swiss-Prot
    Q9P0K1
    Related
    ENSP00000381267.3, ENST00000398209.7
    Conserved Domains (5) summary
    smart00608
    Location:530671
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:239436
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:453527
    Disintegrin; Disintegrin
    pfam01421
    Location:239438
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:75187
    Pep_M12B_propep; Reprolysin family propeptide
  10. NM_021723.5NP_068369.1  disintegrin and metalloproteinase domain-containing protein 22 isoform 1 preproprotein

    See identical proteins and their annotated locations for NP_068369.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1), also known as epsilon, encodes isoform 1, which is proteolytically processed to generate the mature protein.
    Source sequence(s)
    AC005075, AF155382, DR000609, R41888
    Consensus CDS
    CCDS47637.1
    UniProtKB/Swiss-Prot
    Q9P0K1
    Related
    ENSP00000265727.7, ENST00000265727.11
    Conserved Domains (5) summary
    smart00608
    Location:530671
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:239436
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:453527
    Disintegrin; Disintegrin
    pfam01421
    Location:239438
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:75187
    Pep_M12B_propep; Reprolysin family propeptide

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    87934143..88202889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011516319.3XP_011514621.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X3

    Conserved Domains (5) summary
    smart00608
    Location:529670
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:238435
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:452526
    Disintegrin; Disintegrin
    pfam01421
    Location:238437
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:74186
    Pep_M12B_propep; Reprolysin family propeptide
  2. XM_017012331.2XP_016867820.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X12

  3. XM_017012338.2XP_016867827.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X20

  4. XM_017012341.2XP_016867830.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X23

  5. XM_017012330.2XP_016867819.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X10

  6. XM_017012329.2XP_016867818.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X9

  7. XM_017012334.2XP_016867823.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X16

  8. XM_017012335.2XP_016867824.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X17

  9. XM_017012339.2XP_016867828.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X21

  10. XM_017012337.2XP_016867826.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X19

  11. XM_011516318.2XP_011514620.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X2

    Conserved Domains (5) summary
    smart00608
    Location:530671
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:239436
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:453527
    Disintegrin; Disintegrin
    pfam01421
    Location:239438
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:75187
    Pep_M12B_propep; Reprolysin family propeptide
  12. XM_011516322.2XP_011514624.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X7

    Conserved Domains (5) summary
    smart00608
    Location:530671
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:239436
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:453527
    Disintegrin; Disintegrin
    pfam01421
    Location:239438
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:75187
    Pep_M12B_propep; Reprolysin family propeptide
  13. XM_017012332.2XP_016867821.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X13

  14. XM_017012333.2XP_016867822.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X15

  15. XM_011516323.2XP_011514625.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X11

    Conserved Domains (5) summary
    smart00608
    Location:530671
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:239436
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:453527
    Disintegrin; Disintegrin
    pfam01421
    Location:239438
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:75187
    Pep_M12B_propep; Reprolysin family propeptide
  16. XM_017012336.2XP_016867825.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X18

  17. XM_006716028.4XP_006716091.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X1

    Conserved Domains (5) summary
    smart00608
    Location:582723
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:291488
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:505579
    Disintegrin; Disintegrin
    pfam01421
    Location:291490
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:127239
    Pep_M12B_propep; Reprolysin family propeptide
  18. XM_011516320.3XP_011514622.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X4

    Conserved Domains (5) summary
    smart00608
    Location:582723
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:291488
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:505579
    Disintegrin; Disintegrin
    pfam01421
    Location:291490
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:127239
    Pep_M12B_propep; Reprolysin family propeptide
  19. XM_011516321.3XP_011514623.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X5

    Conserved Domains (5) summary
    smart00608
    Location:582723
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:291488
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:505579
    Disintegrin; Disintegrin
    pfam01421
    Location:291490
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:127239
    Pep_M12B_propep; Reprolysin family propeptide
  20. XM_005250445.4XP_005250502.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X8

    Conserved Domains (5) summary
    smart00608
    Location:582723
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:291488
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:505579
    Disintegrin; Disintegrin
    pfam01421
    Location:291490
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:127239
    Pep_M12B_propep; Reprolysin family propeptide
  21. XM_006716029.4XP_006716092.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X6

    Conserved Domains (5) summary
    smart00608
    Location:582723
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:291488
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:505579
    Disintegrin; Disintegrin
    pfam01421
    Location:291490
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:127239
    Pep_M12B_propep; Reprolysin family propeptide
  22. XM_011516324.2XP_011514626.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X14

    Conserved Domains (5) summary
    smart00608
    Location:456597
    ACR; ADAM Cysteine-Rich Domain
    cd04269
    Location:165362
    ZnMc_adamalysin_II_like; Zinc-dependent metalloprotease; adamalysin_II_like subfamily. Adamalysin II is a snake venom zinc endopeptidase. This subfamily contains other snake venom metalloproteinases, as well as membrane-anchored metalloproteases belonging to the ADAM family. ...
    pfam00200
    Location:379453
    Disintegrin; Disintegrin
    pfam01421
    Location:165364
    Reprolysin; Reprolysin (M12B) family zinc metalloprotease
    pfam01562
    Location:8113
    Pep_M12B_propep; Reprolysin family propeptide
  23. XM_017012340.2XP_016867829.1  disintegrin and metalloproteinase domain-containing protein 22 isoform X22

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