SLC41A2 solute carrier family 41 member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: SLC41A2provided by HGNC
Official Full Name: solute carrier family 41 member 2provided by HGNC
Primary source: HGNC:HGNC:31045
See related: Ensembl:ENSG00000136052 MIM:610802; AllianceGenome:HGNC:31045
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SLC41A1-L1
Summary: Predicted to enable inorganic cation transmembrane transporter activity. Predicted to be involved in magnesium ion transmembrane transport. Predicted to act upstream of or within metal ion transport. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in liver (RPKM 11.3), duodenum (RPKM 5.8) and 20 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q23.3

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (104801801..104958746, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (104763412..104920359, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (105195579..105352524, complement)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-11905 (e-PCR)
- UniSTS:79991

D12S1826 (e-PCR)
- UniSTS:34177

SLC41A2_8112 (e-PCR)
- UniSTS:467900

G64583 (e-PCR)
- UniSTS:163818

D12S1844 (e-PCR)
- UniSTS:63993

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables magnesium ion transmembrane transporter activity	TAS Traceable Author Statement more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cobalt ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in iron ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in magnesium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in magnesium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in manganese ion transport	ISS Inferred from Sequence or Structural Similarity more info
involved_in nickel cation transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: solute carrier family 41 member 2

Names: SLC41A1-like 1; solute carrier family 41 (magnesium transporter), member 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001352169.2 → NP_001339098.1 solute carrier family 41 member 2 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (a).

Source sequence(s)

AC089985, AC090051

Consensus CDS

CCDS9100.2

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5

Conserved Domains (1) summary

pfam01769
Location:414 → 555

MgtE; Divalent cation transporter
NM_001352170.3 → NP_001339099.1 solute carrier family 41 member 2 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (a).

Source sequence(s)

AC089985, AC090051

Consensus CDS

CCDS9100.2

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5

Conserved Domains (1) summary

pfam01769
Location:414 → 555

MgtE; Divalent cation transporter
NM_001352171.3 → NP_001339100.1 solute carrier family 41 member 2 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (a).

Source sequence(s)

AC089985, AC090051

Consensus CDS

CCDS9100.2

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5

Related

ENSP00000258538.3, ENST00000258538.8

Conserved Domains (1) summary

pfam01769
Location:414 → 555

MgtE; Divalent cation transporter
NM_001352172.3 → NP_001339101.1 solute carrier family 41 member 2 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (a).

Source sequence(s)

AC089985, AC090051

Consensus CDS

CCDS9100.2

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5

Conserved Domains (1) summary

pfam01769
Location:414 → 555

MgtE; Divalent cation transporter
NM_001387125.1 → NP_001374054.1 solute carrier family 41 member 2 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (6) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (a).

Source sequence(s)

AC089985, AC090051

Consensus CDS

CCDS9100.2

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5

Conserved Domains (1) summary

pfam01769
Location:414 → 555

MgtE; Divalent cation transporter
NM_001387126.1 → NP_001374055.1 solute carrier family 41 member 2 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (a).

Source sequence(s)

AC089985, AC090051

Consensus CDS

CCDS9100.2

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5

Conserved Domains (1) summary

pfam01769
Location:414 → 555

MgtE; Divalent cation transporter
NM_001387127.1 → NP_001374056.1 solute carrier family 41 member 2 isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 1. Variants 1-8 all encode the same isoform (a).

Source sequence(s)

AC089985, AC090051

Consensus CDS

CCDS9100.2

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5

Conserved Domains (1) summary

pfam01769
Location:414 → 555

MgtE; Divalent cation transporter
NM_001387128.1 → NP_001374057.1 solute carrier family 41 member 2 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (9), as well as variants 10 and 11, encodes isoform b.

Source sequence(s)

AC089985, AC090051

Conserved Domains (1) summary

pfam01769
Location:200 → 332

MgtE; Divalent cation transporter
NM_001387129.1 → NP_001374058.1 solute carrier family 41 member 2 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (10), as well as variants 9 and 11, encodes isoform b.

Source sequence(s)

AC089985, AC090051

Conserved Domains (1) summary

pfam01769
Location:200 → 332

MgtE; Divalent cation transporter
NM_001387130.1 → NP_001374059.1 solute carrier family 41 member 2 isoform b

Status: VALIDATED

Description

Transcript Variant: This variant (11), as well as variants 9 and 10, encodes isoform b.

Source sequence(s)

AC089985, AC090051

Conserved Domains (1) summary

pfam01769
Location:200 → 332

MgtE; Divalent cation transporter
NM_001387131.1 → NP_001374060.1 solute carrier family 41 member 2 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (12), as well as variants 13 and 14, encodes isoform c.

Source sequence(s)

AC089985, AC090051

Conserved Domains (1) summary

pfam01769
Location:200 → 332

MgtE; Divalent cation transporter
NM_001387132.1 → NP_001374061.1 solute carrier family 41 member 2 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (13), as well as variants 12 and 14, encodes isoform c.

Source sequence(s)

AC089985, AC090051

Conserved Domains (1) summary

pfam01769
Location:200 → 332

MgtE; Divalent cation transporter
NM_001387133.1 → NP_001374062.1 solute carrier family 41 member 2 isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (14), as well as variants 12 and 13, encodes isoform c.

Source sequence(s)

AC089985, AC090051

Conserved Domains (1) summary

pfam01769
Location:200 → 332

MgtE; Divalent cation transporter
NM_032148.6 → NP_115524.3 solute carrier family 41 member 2 isoform a

See identical proteins and their annotated locations for NP_115524.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1-8 all encode the same isoform (a).

Source sequence(s)

AC089985, AC090051

Consensus CDS

CCDS9100.2

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5

Conserved Domains (1) summary

pfam01769
Location:414 → 555

MgtE; Divalent cation transporter

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000012.12 Reference GRCh38.p14 Primary Assembly

Range

104801801..104958746 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047429648.1 → XP_047285604.1 solute carrier family 41 member 2 isoform X1

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5
XM_017020013.2 → XP_016875502.1 solute carrier family 41 member 2 isoform X1

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5

Conserved Domains (1) summary

pfam01769
Location:414 → 555

MgtE; Divalent cation transporter
XM_005269179.2 → XP_005269236.1 solute carrier family 41 member 2 isoform X1

See identical proteins and their annotated locations for XP_005269236.1

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5

Conserved Domains (1) summary

pfam01769
Location:414 → 555

MgtE; Divalent cation transporter
XM_011538811.3 → XP_011537113.1 solute carrier family 41 member 2 isoform X1

See identical proteins and their annotated locations for XP_011537113.1

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5

Conserved Domains (1) summary

pfam01769
Location:414 → 555

MgtE; Divalent cation transporter
XM_017020016.3 → XP_016875505.1 solute carrier family 41 member 2 isoform X4
XM_011538813.3 → XP_011537115.1 solute carrier family 41 member 2 isoform X5

Conserved Domains (1) summary

pfam01769
Location:188 → 328

MgtE; Divalent cation transporter
XM_047429649.1 → XP_047285605.1 solute carrier family 41 member 2 isoform X2
XM_047429650.1 → XP_047285606.1 solute carrier family 41 member 2 isoform X3

Alternate T2T-CHM13v2.0

Genomic

NC_060936.1 Alternate T2T-CHM13v2.0

Range

104763412..104920359 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054373422.1 → XP_054229397.1 solute carrier family 41 member 2 isoform X1

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5
XM_054373423.1 → XP_054229398.1 solute carrier family 41 member 2 isoform X1

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5
XM_054373424.1 → XP_054229399.1 solute carrier family 41 member 2 isoform X1

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5
XM_054373425.1 → XP_054229400.1 solute carrier family 41 member 2 isoform X1

UniProtKB/Swiss-Prot

Q3KP68, Q96JW4, Q9H0E5
XM_054373428.1 → XP_054229403.1 solute carrier family 41 member 2 isoform X4
XM_054373430.1 → XP_054229405.1 solute carrier family 41 member 2 isoform X5
XM_054373429.1 → XP_054229404.1 solute carrier family 41 member 2 isoform X6
XM_054373426.1 → XP_054229401.1 solute carrier family 41 member 2 isoform X2
XM_054373427.1 → XP_054229402.1 solute carrier family 41 member 2 isoform X3