MMS22L - MMS22 like, DNA repair protein Gene

Also Known as C6orf167; dJ39B17.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 253714

About MMS22L

Cytogenetic location: 6q16.1 Genomic coordinates (GRCh38): 6:97,142,161-97,284,035 (from NCBI)

This gene has 13 transcripts (splice variants) and 189 orthologues. Broad expression in testis (RPKM 2.1), bone marrow (RPKM 1.2) and 24 other tissues.

Summary

The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]

MMS22L Products (3)

mRNA	Protein	Name
NM_001350599.2	NP_001337528.1	protein MMS22-like isoform a
NM_001350600.2	NP_001337529.1	protein MMS22-like isoform b
NM_198468.4	NP_940870.2	protein MMS22-like isoform a

MMS22L Protein Structure

MMS22L_N

MMS22L_C

0
200
400
600
800
1000
1243 a.a.

Protein Preferred Names	Protein Names
protein MMS22-like

MMS22L Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MMS22L	Q6ZRQ5	TONSL	Homo sapiens	Q96HA7	TAP	21113133

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Macular Degeneration, Age-Related, 14	Age Related Macular Degeneration 14 ARMD14 Macular Degeneration, Age-Related, 14, Reduced Risk Of Macular Degeneration, Age-Related, Type 14
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Sponastrime Dysplasia Spondylar And Nasal Alterations With Striated Metaphyses SEMDSP Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation Spondylar And Nasal Alterations-Striated Metaphyses Syndrome Spondyloepimetaphyseal Dysplasia Sponastrime Type Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation Dysplasia, Spondyloepimetaphyseal, Sponastrime Type
Deafness, Autosomal Dominant 66	DFNA66 Autosomal Dominant Nonsyndromic Deafness 66 Autosomal Dominant Deafness 66 Deafness, Autosomal Dominant, 66
Mirror Movements 1	Congenital Mirror Movement Disorder Bimanual Synergia Congenital Mirror Movements Familial Congenital Controlateral Synkinesia Familial Congenital Mirror Movements Hereditary Congenital Controlateral Synkinesia Hereditary Congenital Mirror Movements Isolated Congenital Controlateral Synkinesia Isolated Congenital Mirror Movements Mirror Movements MRMV1 Mirror Movements 1 And/Or Agenesis Of The Corpus Callosum Mirror Movements, Congenital Bimanual Synkinesis Cmm Mirror Movements, Type 1

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08563	MMS22L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MMS22L	VGNC	VGNC:99425
Rattus norvegicus	MMS22L	RGD	RGD:1304693
Felis catus	MMS22L	VGNC	VGNC:102463
Canis familiaris	MMS22L	VGNC	VGNC:43294
Bos taurus	MMS22L	VGNC	VGNC:31535
Mus musculus	MMS22L	MGD	MGI:2684980
Others	MMS22L	NCBI