SLC29A3 - solute carrier family 29 member 3 Gene

Homo sapiens

Also known as ENT3; HJCD; PHID; HCLAP

Gene ID: 55315 | Gene type: protein coding

About SLC29A3

Cytogenetic location: 10q22.1 Genomic coordinates (GRCh38): 10:71,319,259-71,381,423 (from NCBI)

This gene has 14 transcripts (splice variants), 199 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in placenta (RPKM 7.5), urinary bladder (RPKM 5.5) and 25 other tissues.

Summary

This gene encodes a nucleoside transporter. The encoded protein plays a role in cellular uptake of nucleosides, nucleobases, and their related analogs. Mutations in this gene have been associated with H syndrome, which is characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism. A related disorder, PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus), has also been associated with mutations at this locus. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2010]

SLC29A3 Products(3)

mRNA	Protein	Name
NM_001174098.2	NP_001167569.1	equilibrative nucleoside transporter 3 isoform b
NM_001363518.2	NP_001350447.1	equilibrative nucleoside transporter 3 isoform c
NM_018344.6	NP_060814.4	equilibrative nucleoside transporter 3 isoform a

SLC29A3 Protein Structure

Nucleoside_tran

0
100
200
300
400
475 a.a.

Protein Preferred Names

Protein Names

equilibrative nucleoside transporter 3

solute carrier family 29 (equilibrative nucleoside transporter), member 3

Related Diseases

Diseases

Alias

Histiocytosis-Lymphadenopathy Plus Syndrome

H Syndrome	Histiocytosis With Joint Contractures And Sensorineural Deafness
Faisalabad Histiocytosis	Shml
Hjcd	Rosai-Dorfman Disease
Pigmented Hypertrichosis With Insulin-Dependent Diabetes Mellitus	Phid
Sinus Histiocytosis And Massive Lymphadenopathy	Familial Rosai-Dorfman Disease
Slc29a3 Spectrum Disorder	Sinus Histiocytosis With Massive Lymphadenopathy
Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures, And/Or Deafness	Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss
Rosai-Dorfman Disease, Familial	Cutaneous Hyperpigmentation With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss
Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures And/Or Deafness	Rdd
Rosaï-Dorfman Disease	Slc29a3 Disorder
Destombes-Rosai-Dorfman Disease	Rosai-Dorfman-Destombes Disease
HLAS	Cutaneous Hyperpigmentation With Hypertrichosis Hepatosplenomegaly Heart Anomalies And Hypogonadism With Or Without Hearing Loss
Histiocytosis And Lymphadenopathy With Or Without Cutaneous Cardiac And/Or Endocrine Features Joint Contractures And/Or Deafness	H Disease
Sinus Histiocytosis

Dysosteosclerosis

Asrar Facharzt Haque Syndrome

Histiocytosis

Chronic Histiocytosis X	Hand Schuller Christian Disease
Hand-Schüller-Christian Disease	Histiocytic Syndrome
Histiocytosis, Langerhans-Cell

Hypertrichosis

Polyclonal Hypergammaglobulinemia

Polyclonal Gammopathy

Diabetes Mellitus

Diabetes

Hypogonadism

Sensorineural Hearing Loss

Sensory Hearing Loss	Sensorineural Deafness
Sensorineural Hearing Loss Disorder	Hearing Loss, Sensorineural
Central Hearing Loss	High Frequency Deafness
High Frequency Hearing Loss	High-Frequency Hearing Loss
Perceptive Deafness	Perceptive Hearing Loss
Perceptive Hearing Loss Or Deafness	Hearing Loss Sensorineural
Deafness Sensorineural	Hearing Loss High-Frequency
Hearing Loss, Central	Hearing Loss, High-Frequency

Osteopetrosis

Marble Bone Disease	Albers-Schonberg Disease
Osteopetroses	Marble Bones
Osteopetrosis And Related Disorders	Congenital Osteopetrosis
Marble Bone	Albers-Schoenberg Disease
Albers-Schonberg Osteopetrosis	Osteosclerosis Fragilis
Ivory Bones

Rhinoscleroma

Hair Disease

Hair Diseases	Hair Anomaly
Hair Disorder	Hair Problems

Thiamine-Responsive Megaloblastic Anemia Syndrome

TRMA	Rogers Syndrome
Thiamine-Responsive Myelodysplasia	Thiamine-Responsive Anemia Syndrome
Thiamine Metabolism Dysfunction Syndrome 1	Thmd1
Megaloblastic Anemia, Thiamine-Responsive, With Diabetes Mellitus And Sensorineural Deafness	Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Deafness
Thiamine Responsive Megaloblastic Anemia Syndrome	Megaloblastic Anemia Thiamine-Responsive With Diabetes Mellitus And Sensorineural Deafness
Thiamine-Responsive Megaloblastic Anemia	Thiamine-Responsive Anaemia Syndrome
Thiamine-Responsive Megaloblastic Anaemia Syndrome	Thiamine-Responsive Megaloblastic Anaemia With Diabetes Mellitus And Sensorineural Deafness
Thiamine-Responsive Megaloblastic Anemia With Diabetes Mellitus And Sensorineural Hearing Loss

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-RS13155	SLC29A3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	SLC29A3	VGNC	VGNC:106931
Felis catus	SLC29A3	VGNC	VGNC:65297
Mus musculus	SLC29A3	MGD	MGI:1918529
Rattus norvegicus	SLC29A3	RGD	RGD:727811
Canis familiaris	SLC29A3	VGNC	VGNC:46335
Macaca mulatta	SLC29A3	VGNC	VGNC:77561

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