Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64116
Gene name	Solute carrier family 39 member 8
Gene symbol	SLC39A8
Synonyms (NCBI Gene)	BIGM103CDG2NLZT-Hs6PP3105ZIP8
Chromosome	4
Chromosome location	4q24
Summary	This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs373562040	C>A,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs778210210	C>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, 5 prime UTR variant, missense variant
rs779241085	C>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs864309659	A>T	Uncertain-significance, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs864309660	C>G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1057521727	G>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained

Show/Hide all (79)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024337	hsa-miR-215-5p	Microarray	19074876
MIRT026917	hsa-miR-192-5p	Microarray	19074876
MIRT043292	hsa-miR-331-3p	CLASH	23622248
MIRT038538	hsa-miR-30c-1-3p	CLASH	23622248
MIRT052741	hsa-miR-1260b	CLASH	23622248
MIRT054483	hsa-miR-488-3p	Luciferase reporter assayImmunoblottingqRT-PCR	23688035
MIRT1363693	hsa-miR-1299	CLIP-seq
MIRT1363694	hsa-miR-1305	CLIP-seq
MIRT1363695	hsa-miR-139-5p	CLIP-seq
MIRT1363696	hsa-miR-378	CLIP-seq
MIRT1363697	hsa-miR-378b	CLIP-seq
MIRT1363698	hsa-miR-378c	CLIP-seq
MIRT1363699	hsa-miR-378d	CLIP-seq
MIRT1363700	hsa-miR-378e	CLIP-seq
MIRT1363701	hsa-miR-378f	CLIP-seq
MIRT1363702	hsa-miR-378h	CLIP-seq
MIRT1363703	hsa-miR-378i	CLIP-seq
MIRT1363704	hsa-miR-422a	CLIP-seq
MIRT1363705	hsa-miR-4535	CLIP-seq
MIRT1363706	hsa-miR-4638-3p	CLIP-seq
MIRT1363707	hsa-miR-4761-5p	CLIP-seq
MIRT1363708	hsa-miR-4782-5p	CLIP-seq
MIRT1363709	hsa-miR-488	CLIP-seq
MIRT1363710	hsa-miR-492	CLIP-seq
MIRT1363711	hsa-miR-498	CLIP-seq
MIRT1363712	hsa-miR-516b	CLIP-seq
MIRT1363713	hsa-miR-582-5p	CLIP-seq
MIRT1363714	hsa-miR-640	CLIP-seq
MIRT1363715	hsa-miR-1276	CLIP-seq
MIRT1363716	hsa-miR-1976	CLIP-seq
MIRT1363717	hsa-miR-299-3p	CLIP-seq
MIRT1363718	hsa-miR-370	CLIP-seq
MIRT1363719	hsa-miR-4274	CLIP-seq
MIRT1363720	hsa-miR-4519	CLIP-seq
MIRT1363721	hsa-miR-4648	CLIP-seq
MIRT1363722	hsa-miR-4654	CLIP-seq
MIRT1363723	hsa-miR-4661-5p	CLIP-seq
MIRT1363724	hsa-miR-4769-5p	CLIP-seq
MIRT1363725	hsa-miR-1200	CLIP-seq
MIRT1363726	hsa-miR-3117-5p	CLIP-seq
MIRT1363727	hsa-miR-380	CLIP-seq
MIRT1363728	hsa-miR-4289	CLIP-seq
MIRT1363729	hsa-miR-4324	CLIP-seq
MIRT1363730	hsa-miR-4330	CLIP-seq
MIRT1363731	hsa-miR-4494	CLIP-seq
MIRT1363732	hsa-miR-4499	CLIP-seq
MIRT1363733	hsa-miR-4513	CLIP-seq
MIRT1363734	hsa-miR-4645-5p	CLIP-seq
MIRT1363735	hsa-miR-4673	CLIP-seq
MIRT1363736	hsa-miR-499a-5p	CLIP-seq
MIRT1363737	hsa-miR-544b	CLIP-seq
MIRT2107869	hsa-miR-127-5p	CLIP-seq
MIRT2107870	hsa-miR-3065-5p	CLIP-seq
MIRT1363726	hsa-miR-3117-5p	CLIP-seq
MIRT2107871	hsa-miR-570	CLIP-seq
MIRT2331683	hsa-miR-3120-3p	CLIP-seq
MIRT2331684	hsa-miR-3171	CLIP-seq
MIRT1363719	hsa-miR-4274	CLIP-seq
MIRT2394784	hsa-miR-3591-3p	CLIP-seq
MIRT2394785	hsa-miR-4477a	CLIP-seq
MIRT2107869	hsa-miR-127-5p	CLIP-seq
MIRT2107870	hsa-miR-3065-5p	CLIP-seq
MIRT1363726	hsa-miR-3117-5p	CLIP-seq
MIRT2107871	hsa-miR-570	CLIP-seq
MIRT1363713	hsa-miR-582-5p	CLIP-seq
MIRT2691211	hsa-miR-1294	CLIP-seq
MIRT2691212	hsa-miR-3184	CLIP-seq
MIRT2691213	hsa-miR-342-5p	CLIP-seq
MIRT2691214	hsa-miR-423-5p	CLIP-seq
MIRT2691215	hsa-miR-4316	CLIP-seq
MIRT2691216	hsa-miR-452	CLIP-seq
MIRT2691217	hsa-miR-4664-5p	CLIP-seq
MIRT2691218	hsa-miR-4676-3p	CLIP-seq
MIRT2691219	hsa-miR-4694-5p	CLIP-seq
MIRT2691220	hsa-miR-4727-5p	CLIP-seq
MIRT2691221	hsa-miR-4769-3p	CLIP-seq
MIRT2691222	hsa-miR-4803	CLIP-seq
MIRT2691223	hsa-miR-634	CLIP-seq
MIRT2691224	hsa-miR-758	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
SP1	Activation	18556457

Show/Hide all (70)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005385	Function	Zinc ion transmembrane transporter activity	IBA
GO:0005385	Function	Zinc ion transmembrane transporter activity	TAS
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	18390834, 19401385
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	18390834
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IMP	29337306
GO:0006487	Process	Protein N-linked glycosylation	IEA
GO:0006487	Process	Protein N-linked glycosylation	ISS
GO:0006525	Process	Arginine metabolic process	IEA
GO:0006525	Process	Arginine metabolic process	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006824	Process	Cobalt ion transport	IEA
GO:0006824	Process	Cobalt ion transport	ISS
GO:0006829	Process	Zinc ion transport	IEA
GO:0006829	Process	Zinc ion transport	IMP	12504855
GO:0006882	Process	Intracellular zinc ion homeostasis	IDA	19401385
GO:0006882	Process	Intracellular zinc ion homeostasis	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015694	Process	Mercury ion transport	IEA
GO:0015701	Process	Bicarbonate transport	IEA
GO:0015701	Process	Bicarbonate transport	ISS
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	31699897
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IDA	31699897
GO:0016324	Component	Apical plasma membrane	IEA
GO:0030001	Process	Metal ion transport	IEA
GO:0030003	Process	Intracellular monoatomic cation homeostasis	IBA
GO:0030026	Process	Intracellular manganese ion homeostasis	IEA
GO:0030026	Process	Intracellular manganese ion homeostasis	ISS
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030198	Process	Extracellular matrix organization	IMP	29337306
GO:0031090	Component	Organelle membrane	IDA	12504855
GO:0042391	Process	Regulation of membrane potential	IMP	18390834
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IMP	23403290
GO:0046873	Function	Metal ion transmembrane transporter activity	IEA
GO:0050728	Process	Negative regulation of inflammatory response	IMP	23403290
GO:0055085	Process	Transmembrane transport	IEA
GO:0061757	Process	Leukocyte adhesion to arterial endothelial cell	IEA
GO:0061757	Process	Leukocyte adhesion to arterial endothelial cell	ISS
GO:0070574	Process	Cadmium ion transmembrane transport	IDA	27466201
GO:0070574	Process	Cadmium ion transmembrane transport	IEA
GO:0070574	Process	Cadmium ion transmembrane transport	IEA
GO:0071421	Process	Manganese ion transmembrane transport	IEA
GO:0071421	Process	Manganese ion transmembrane transport	IMP	28481222, 29453449, 31699897
GO:0071577	Process	Zinc ion transmembrane transport	IDA	19401385
GO:0071577	Process	Zinc ion transmembrane transport	IEA
GO:0071577	Process	Zinc ion transmembrane transport	IMP	18390834
GO:0071577	Process	Zinc ion transmembrane transport	TAS
GO:0071578	Process	Zinc ion import across plasma membrane	IBA
GO:0071578	Process	Zinc ion import across plasma membrane	IEA
GO:0071578	Process	Zinc ion import across plasma membrane	IMP	23403290, 29337306
GO:0097080	Process	Plasma membrane selenite transport	IDA	27166256
GO:0097080	Process	Plasma membrane selenite transport	IEA
GO:0098711	Process	Iron ion import across plasma membrane	IDA	22898811
GO:0098711	Process	Iron ion import across plasma membrane	IEA
GO:0098849	Process	Cellular detoxification of cadmium ion	IMP	27466201
GO:0140410	Function	Monoatomic cation:bicarbonate symporter activity	IBA
GO:0140410	Function	Monoatomic cation:bicarbonate symporter activity	IDA	22898811, 27166256, 27466201, 28481222, 29453449, 31699897
GO:0140410	Function	Monoatomic cation:bicarbonate symporter activity	IEA
GO:0140412	Function	Zinc:bicarbonate symporter activity	IEA
GO:1990079	Process	Cartilage homeostasis	IEA
GO:1990079	Process	Cartilage homeostasis	ISS
GO:1990540	Process	Mitochondrial manganese ion transmembrane transport	IMP	29453449

MIM	HGNC	e!Ensembl
608732	20862	ENSG00000138821

Q9C0K1

Protein name

Metal cation symporter ZIP8 (BCG-induced integral membrane protein in monocyte clone 103 protein) (LIV-1 subfamily of ZIP zinc transporter 6) (LZT-Hs6) (Solute carrier family 39 member 8) (Zrt- and Irt-like protein 8) (ZIP-8)

Protein function

Electroneutral divalent metal cation:bicarbonate symporter of the plasma membrane mediating the cellular uptake of zinc and manganese, two divalent metal cations important for development, tissue homeostasis and immunity (PubMed:12504855, PubMed

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02535	Zip	126 → 451	ZIP Zinc transporter	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed (PubMed:12504855, PubMed:22898811, PubMed:28056086, PubMed:31699897). Expressed in thymus, placenta, lung, liver, pancreas, salivary gland and, to a lower extent, in spleen, testis, ovary, small intestine, colon,

Sequence

MAPGRAVAGLLLLAAAGLGGVAEGPGLAFSEDVLSVFGANLSLSAAQLQHLLEQMGAASR
VGVPEPGQLHFNQCLTAEEIFSLHGFSNATQITSSKFSVICPAVLQQLNFHPCEDRPKHK
TRPSHSEVWGYGFLSVTIINLASLLGLILTPLIKKSYFPKILTFFVGLAIGTLFSNAIFQ
LIPEAFGFDPKVDSYVEKAVAVFGGFYLLFFFERMLKMLLKTYGQNGHTHFGNDNFGPQE
KTHQPKALPAINGVTCYANPAVTEANGHIHFDNVSVVSLQDGKKEPSSCTCLKGPKLSEI
GTIAWMITLCDALHNFIDGLAIGASCTLSLLQGLSTSIAILCEEFPHELGDFVILLNAGM
STRQALLFNFLSACSCYVGLAFGILVGNNFAPNIIFALAGGMFLYISLADMFPEMNDMLR
EKVTGRKTDFTFFMIQNAGMLTGFTAILLITLYAGEIELE

Sequence length

460

Interactions

View interactions

	KEGG		Reactome
	Ferroptosis Alzheimer disease Parkinson disease		Zinc influx into cells by the SLC39 gene family

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
SLC39A8-CDG	Likely pathogenic; Pathogenic	rs1732173818, rs1734625225, rs2149060093, rs142863074, rs778210210, rs864309659, rs1444255127	RCV001332454 RCV001332455 RCV001580614 RCV002246724 RCV000203234 RCV000203240 RCV001089507

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs864309660	-
Cholangiocarcinoma	Benign	rs17032290	RCV005922049
Clear cell carcinoma of kidney	Benign	rs71813938	RCV005870923
Familial cancer of breast	Benign	rs71813938	RCV005870922
Gastric cancer	Benign	rs71813938	RCV005870924
Inflammatory bowel disease 1	Benign	rs13107325	RCV003227984
Melanoma	Uncertain significance	rs1422831231	RCV005928460
Ovarian serous cystadenocarcinoma	Benign	rs17032290	RCV005922048
See cases	Uncertain significance	rs1370428884	RCV002252404
SLC39A8-related disorder	Conflicting classifications of pathogenicity; Likely benign; Uncertain significance; Benign	rs376910589, rs71813938, rs190904608, rs375280715, rs146759817, rs1870953, rs147912552, rs138260455	RCV003946356 RCV003902229 RCV003957150 RCV003946781 RCV004730954 RCV003920789 RCV003912963 RCV003942832

Show/Hide Text Mining Associations (56)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Allergic Fungal Sinusitis	Associate	32746765
Breast Neoplasms	Associate	32744318
Carcinoma Hepatocellular	Associate	32247823, 32393195
Cardiomyopathy Dilated	Associate	28296976
Cardiovascular Diseases	Associate	21525204
Cerebellar Diseases	Associate	26637978, 34246313
Cerebrovascular Disorders	Associate	30696806
Cognitive Dysfunction	Associate	26637979
Congenital disorder of glycosylation type II	Associate	26637979, 29453449
Congenital Disorder Of Glycosylation Type In	Associate	34246313
Congenital Disorders of Glycosylation	Associate	26637979, 32852845, 34246313
Crohn Disease	Associate	27492617, 30703110
Delirium	Associate	30696806
Dementia	Associate	30696806
Dental Plaque	Associate	23372645
Developmental Disabilities	Associate	34246313
Drug Related Side Effects and Adverse Reactions	Associate	22345571, 32915786
Dyskinesia Drug Induced	Associate	34246313
Dystonia	Associate	29382362
Glioma	Associate	23595627
Hearing Loss	Associate	26637979
Hypertension	Associate	26006263
Idiopathic Pulmonary Fibrosis	Associate	40022042
Immunoglobulin G4 Related Disease	Associate	33832415
Immunologic Deficiency Syndromes	Associate	26637979, 28749473
Inflammation	Stimulate	22345571, 33832415
Inflammation	Associate	33658057, 34198528
Inflammatory Bowel Diseases	Associate	30703110
Intracranial Hemorrhages	Associate	30696806
Leigh Disease	Associate	29453449, 32852845, 34246313
Lupus Erythematosus Systemic	Associate	29070082
Malaria Cerebral	Associate	33942992
Manganese Poisoning	Associate	28749473, 29453449
Metabolic Syndrome	Associate	32247823
Mitochondrial Diseases	Associate	29453449
Neoplasms	Associate	39596116, 40565055
Neoplasms Adipose Tissue	Associate	32247823
Nervous System Diseases	Associate	34246313
Neuroblastoma	Associate	32915786
Neurologic Manifestations	Associate	34246313
Obesity	Associate	26006263, 27492617, 32788640, 34872017
Osteoarthritis	Associate	33658057
Overweight	Associate	27492617
Parkinson Disease	Associate	27182965
Postural Orthostatic Tachycardia Syndrome	Associate	34246313
Psychomotor Disorders	Associate	26637979
Renal Insufficiency Chronic	Associate	29921869
Schizophrenia	Associate	26006263, 27182965, 27492617, 30696806
Seborrhea Like Dermatitis with Psoriasiform Elements	Associate	26637979
Seizures	Associate	26637979
Sepsis	Stimulate	21525204
Sjogren's Syndrome	Associate	29070082
Skull Neoplasms	Associate	26637979
Spasms Infantile	Associate	26637979
Wasting Syndrome	Associate	26637978
Zinc Deficiency Neonatal due to Low Breast Milk Zinc	Associate	26637978

SLC39A8 (solute carrier family 39 member 8)