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

ADAM22 - ADAM metallopeptidase domain 22 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：ADAM 金属肽酶结构域 22

种属: Homo sapiens

同用名: MDC2; DEE61; EIEE61; ADAM 22

基因 ID: 53616 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 ADAM (一种去整合素和金属蛋白酶结构域) 家族的成员。该家族的成员是膜锚定蛋白，在结构上与蛇毒解离蛋白相关，并且涉及涉及细胞-细胞和细胞-基质相互作用的各种生物过程，包括受精、肌肉发育和神经发生。与 ADAM 蛋白家族的其他成员不同，该基因编码的蛋白缺乏金属蛋白酶活性，因为它没有锌结合基序。该基因在大脑中高度表达，可能作为大脑中的整合素配体发挥作用。在小鼠中，它已被证明对于周围神经系统中正确的髓鞘形成至关重要。可变剪接导致多种转录本变体。[RefSeq 提供，2010 年 12 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
12589811 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in plasma membrane IDA
IDA: 通过直接分析推断
27066583 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ADAM22 蛋白结构

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.
蛋白主名 其他名称

disintegrin and metalloproteinase domain-containing protein 22

a disintegrin and metalloproteinase domain 22

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00278 ADAM22 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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