SAMD9L - sterile alpha motif domain containing 9 like Gene

Homo sapiens

Also known as UEF1; ATXPC; DRIF2; SCA49; C7orf6; M7MLS1

Gene ID: 219285 | Gene type: protein coding

About SAMD9L

Cytogenetic location: 7q21.2 Genomic coordinates (GRCh38): 7:93,130,056-93,148,385 (from NCBI)

This gene has 9 transcripts (splice variants), 256 orthologues, 1 paralogue and is associated with 6 phenotypes. Broad expression in spleen (RPKM 19.4), appendix (RPKM 14.5) and 23 other tissues.

Summary

This gene encodes a cytoplasmic protein that acts as a tumor suppressor but also plays a key role in cell proliferation and the innate immune response to viral Infection. The encoded protein contains an N-terminal sterile alpha motif domain. Naturally occurring mutations in this gene are associated with myeloid disorders such as juvenile myelomonocytic leukemia, acute myeloid leukemia, and myelodysplastic syndrome. Naturally occurring mutations are also associated with hepatitis-B related hepatocellular carcinoma, normophosphatemic familial tumoral calcinosis, and ataxia-pancytopenia syndrome. [provided by RefSeq, Apr 2017]

SAMD9L Products(9)

mRNA	Protein	Name
NM_001303496.3	NP_001290425.1	sterile alpha motif domain-containing protein 9-like
NM_001303497.3	NP_001290426.1	sterile alpha motif domain-containing protein 9-like
NM_001303498.3	NP_001290427.1	sterile alpha motif domain-containing protein 9-like
NM_001303500.3	NP_001290429.1	sterile alpha motif domain-containing protein 9-like
NM_001350082.2	NP_001337011.1	sterile alpha motif domain-containing protein 9-like
NM_001350083.2	NP_001337012.1	sterile alpha motif domain-containing protein 9-like
NM_001350084.2	NP_001337013.1	sterile alpha motif domain-containing protein 9-like
NM_001350085.2	NP_001337014.1	sterile alpha motif domain-containing protein 9-like
NM_152703.5	NP_689916.2	sterile alpha motif domain-containing protein 9-like

Protein Preferred Names

Protein Names

sterile alpha motif domain-containing protein 9-like

SAM domain-containing protein 9-like

Related Diseases

Diseases

Alias

Ataxia-Pancytopenia Syndrome

Myelocerebellar Disorder

ATXPC

Monosomy 7 Myelodysplasia And Leukemia Syndrome 1

Chromosome 7q Deletion	M7MLS1
Mlsm7	Monosomy 7 Of Bone Marrow
7q Deletion	7q Monosomy
Deletion 7q	Monosomy 7q
Partial Monosomy 7q	Familial Mosaic Monosomy 7 Syndrome
Monosomy Of Bone Marrow

Spinocerebellar Ataxia 49

SCA49

Samd9l-Associated Autoinflammatory Syndrome

Samd9l-Saad

Pancytopenia

Myelodysplastic Syndrome

Myelodysplastic Syndromes	Myelodysplasia
MDS	Myelodysplastic Syndrome Included
Myelodysplastic Syndrome, Susceptibility To, Included	Myelodysplastic Syndrome, Somatic
Myelodysplastic Syndrome, Susceptibility To

Tumoral Calcinosis, Normophosphatemic, Familial

Normophosphatemic Familial Tumoral Calcinosis	NFTC
Tumoral Calcinosis, Familial, Normophosphatemic	Calcinosis, Tumoral, With Normophosphatemia
Familial Normophosphatemic Tumoral Calcinosis	Tumoral Calcinosis With Normophosphatemia

Calcinosis

Pathologic Calcification

Pathologically Calcified Structure

Immunodeficiency 21

Monocytopenia And Mycobacterial Infection Syndrome	Monomac
Gata2 Deficiency	Monocytopenia With Susceptibility To Infections
Dcml	IMD21
Dendritic Cell, Monocyte, B Lymphocyte, And Natural Killer Lymphocyte Deficiency	Monocytopenia With Susceptibility To Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia
Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral, And Fungal Infections	Combined Immunodeficiency With Susceptibility To Mycobacterial, Viral And Fungal Infections
Dendritic Cell, Monocyte, B And Nk Lymphoid Deficiency	Monocyte-B-Natural Killer-Dendritic Cell Deficiency Syndrome
Monocytopenia With Mycobacterial, Fungal, And Papillomavirus Infections And Myelodysplasia	Combined Immunodeficiency With Mycobacterial, Viral, And Fungal Infections
Monocyte - B - Natural Killer - Dendritic Cell Deficiency	Combined Immunodeficiency With Susceptibility To Mycobacterial Viral And Fungal Infections
Dendritic Cell Monocyte Lymphocyte B And Natural Killer Lymphocyte Deficiency	Monocytopenia With Susceptibility To Mycobacterial Fungal And Papillomavirus Infections And Myelodysplasia

Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic	JMML
Leukemia, Juvenile Myelomonocytic, Somatic	Juvenile Chronic Myelomonocytic Leukemia
Juvenile Chronic Myelogenous Leukemia	Leukemia, Myelomonocytic, Juvenile
Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Ecthyma

Leukemia, Acute Myeloid

Acute Myeloid Leukemia	Leukemia, Acute Myelogenous
Acute Myelogenous Leukemia	AML
Leukemia, Acute Myeloid, Susceptibility To	Acute Myeloblastic Leukemia
Leukemia, Acute Myeloid, Reduced Survival In, Somatic	Acute Myeloid Leukaemia
Leukemia, Myelocytic, Acute	Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
Secondary Aml	Acute Myelocytic Leukemia
Acute Myeloid Leukemia, Somatic	Leukemia, Acute Myeloid, Somatic
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic	Acute Myeloblastic Leukaemia
Acute Myelogenous Leukaemia	Aml - Acute Myeloid Leukemia
Acute Myeloid Leukemia With Cebpa Somatic Mutations	Aml With Cebpa Somatic Mutations
Inherited Acute Myeloid Leukemia	Familial Aml
Inherited Aml	Pure Familial Aml
Pure Familial Acute Myeloid Leukemia	Secondary Acute Myeloid Leukemia
Therapy-Related Aml And Myelodysplastic Syndrome	Acute Myeloid Leukemia, Secondary
Acute Non-Lymphoblastic Leukemia	Acute Non-Lymphocytic Leukemia
Acute Biphenotypic Leukemia	Acute Undifferentiated Leukemia
Acute Myeloblastic Leukaemia With Multilineage Dysplasia	Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Shwachman-Diamond Syndrome 1

Shwachman-Diamond Syndrome	Shwachman Syndrome
Shwachman-Bodian-Diamond Syndrome	Sds
Pancreatic Insufficiency And Bone Marrow Dysfunction	Shwachman-Bodian Syndrome
SDS1	Lipomatosis Of Pancreas, Congenital
Congenital Lipomatosis Of Pancreas	Shwachman-Diamond Type Metaphyseal Dysplasia
Metaphyseal Chondrodysplasia, Shwachman Type	Shwachman-Diamond-Oski Syndrome

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Severe Congenital Neutropenia

Congenital Neutropenia	Neutropenia, Severe Congenital
Congenital Agranulocytosis	Infantile Genetic Agranulocytosis
Kostmann Disease	Kostmann'S Agranulocytosis
Kostmann'S Syndrome	Severe Infantile Genetic Neutropenia

Dyskeratosis Congenita

Dyskeratosis Congenita Autosomal Dominant	Dc
Dkc	Zinsser-Engman-Cole Syndrome
Dyskeratosis Congenita, Autosomal Dominant	Autosomal Dominant Dyskeratosis Congenita
Dkca	Dyskeratosis Congenita Scoggins Type
Zinsser-Cole-Engman Syndrome	X-Linked Dyskeratosis Congenita
Hoyeraal-Hreidarsson Syndrome

Diamond-Blackfan Anemia

Congenital Pure Red Cell Aplasia	Aase Syndrome
Erythrogenesis Imperfecta	Anemia, Diamond-Blackfan
Congenital Hypoplastic Anemia	Aase-Smith Ii Syndrome
Bds	Blackfan-Diamond Anemia
Congenital Prca	Congenital Hypoplastic Anemia, Blackfan-Diamond Type
Dba	Blackfan - Diamond Syndrome
Chronic Constitutional Pure Red Cell Anaemia	Anemia Diamond Blackfan Type
Anemia Congenital Erythroid Hypoplastic	Aregenerative Anemia Chronic Congenital
Blackfan Diamond Syndrome	Red Cell Aplasia, Pure Hereditary
Aase-Smith Syndrome Ii	Bda
Blackfan Diamond Anemia	Blackfan-Diamond Disease
Blackfan-Diamond Syndrome	Chronic Congenital Agenerative Anemia
Congenital Erythroid Hypoplastic Anemia	Congenital Hypoplastic Anemia Of Blackfan And Diamond
Congenital Pure Red Cell Anemia	Hypoplastic Congenital Anemia
Inherited Erythroblastopenia	Pure Hereditary Red Cell Aplasia
Anemia, Hypoplastic, Congenital	Anemia Hypoplastic Congenital
Fanconi Anemia	Constitutional Aplastic Anemia
Diamond-Blackfan Anemia 1	Aase Smith Syndrome 2
Congenital Red Cell Aplasia	Red Cell Aplasia Of Infants
Pure Red Cell Aplasia Of Infants	Congenital Red Cell Aplastic Anaemia
Congenital Pure Red Cell Anaemia	Congenital Erythroid Hypoplasia
Pearson Marrow-Pancreas Syndrome

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12432	SAMD9L Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SAMD9L	MGD	MGI:1343184
Felis catus	SAMD9L	VGNC	VGNC:80711
Macaca mulatta	SAMD9L	VGNC	VGNC:77010
Rattus norvegicus	SAMD9L	RGD	RGD:1562531
Canis familiaris	SAMD9L	VGNC	VGNC:54356

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