SLC71A2

Summary

SLC71A2 (solute carrier family 71 member 2, HGNC:23376) is a protein-coding gene on chromosome 9q22.32, encoding Solute carrier family 71 member 2 (Q5SR56). Probable membrane-bound transporter.

Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in membrane.

Source: NCBI Gene 84641 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 24 total
• MANE Select transcript: NM_032558

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23376
Approved symbol	SLC71A2
Name	solute carrier family 71 member 2
Location	9q22.32
Locus type	gene with protein product
Status	Approved
Aliases	FLJ14753
Ensembl gene	ENSG00000148110
Ensembl biotype	protein_coding
OMIM	620348
Entrez	84641

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 14 protein_coding, 1 retained_intron

ENST00000375344, ENST00000673506, ENST00000885150, ENST00000885151, ENST00000885152, ENST00000885153, ENST00000885154, ENST00000885155, ENST00000885156, ENST00000885157, ENST00000885158, ENST00000934655, ENST00000934656, ENST00000934657, ENST00000960207

RefSeq mRNA: 1 — MANE Select: NM_032558 NM_032558

CCDS: CCDS6710

Canonical transcript exons

ENST00000375344 — 12 exons

Exon	Start	End
ENSE00000983145	94446823	94446936
ENSE00000983147	94453958	94454070
ENSE00001405625	94440985	94441099
ENSE00001466765	94444964	94445182
ENSE00001703347	94415158	94415253
ENSE00001759465	94456240	94456337
ENSE00001776723	94429189	94429251
ENSE00001793304	94438401	94438528
ENSE00001947305	94459161	94461042
ENSE00002704858	94374569	94374927
ENSE00003622559	94458322	94458464
ENSE00003718447	94451456	94451527

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 98.40.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.1346 / max 371.8702, expressed in 1823 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
97456	20.0866	1819
97455	7.2584	1776
97454	0.7896	542

Top tissues by expression

256 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	98.40	gold quality
upper arm skin	UBERON:0004263	97.23	gold quality
gingival epithelium	UBERON:0001949	96.96	gold quality
esophagus squamous epithelium	UBERON:0006920	96.59	gold quality
secondary oocyte	CL:0000655	96.20	gold quality
gingiva	UBERON:0001828	96.16	gold quality
ileal mucosa	UBERON:0000331	95.99	gold quality
epithelial cell of pancreas	CL:0000083	95.70	gold quality
palpebral conjunctiva	UBERON:0001812	95.25	gold quality
lower esophagus mucosa	UBERON:0035834	95.20	gold quality
monocyte	CL:0000576	94.91	gold quality
leukocyte	CL:0000738	94.72	gold quality
epithelium of nasopharynx	UBERON:0001951	93.74	gold quality
tibia	UBERON:0000979	93.52	gold quality
esophagus mucosa	UBERON:0002469	93.52	gold quality
upper leg skin	UBERON:0004262	93.46	gold quality
oocyte	CL:0000023	93.22	gold quality
oral cavity	UBERON:0000167	93.16	gold quality
germinal epithelium of ovary	UBERON:0001304	92.92	gold quality
fallopian tube	UBERON:0003889	92.88	gold quality
endometrium	UBERON:0001295	92.77	gold quality
skin of abdomen	UBERON:0001416	92.52	gold quality
skin of hip	UBERON:0001554	92.44	gold quality
trabecular bone tissue	UBERON:0002483	92.42	gold quality
zone of skin	UBERON:0000014	92.35	gold quality
bronchial epithelial cell	CL:0002328	92.28	gold quality
right lung	UBERON:0002167	92.21	gold quality
skin of leg	UBERON:0001511	92.20	gold quality
nasal cavity mucosa	UBERON:0001826	92.04	gold quality
vagina	UBERON:0000996	92.03	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.96

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

124 targeting SLC71A2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-485-3P	99.98	70.68	1585
HSA-MIR-539-3P	99.98	70.74	1616
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-548AJ-3P	99.96	73.38	5345

Literature-anchored findings (GeneRIF, showing 1)

• We identified interaction between CRC risk and alcohol consumption and variants in the 9q22.32/HIATL1 region. Compared to non-/occasional drinking light to moderate alcohol consumption was associated with a lower risk of colorectal cancer among individuals with rs9409565 CT genotype and TT genotypes (PMID:27723779)

Cross-species orthologs

18 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000010023
danio_rerio	mfsd14bb	ENSDARG00000030129
mus_musculus	Mfsd14b	ENSMUSG00000038212
rattus_norvegicus	Mfsd14b	ENSRNOG00000018227
drosophila_melanogaster	CG11537	FBGN0035400
drosophila_melanogaster	CG18281	FBGN0037003
drosophila_melanogaster	CG17637	FBGN0037004
drosophila_melanogaster	CG5078	FBGN0037005
caenorhabditis_elegans		WBGENE00010182
caenorhabditis_elegans		WBGENE00010282
caenorhabditis_elegans		WBGENE00012222
caenorhabditis_elegans		WBGENE00016093
caenorhabditis_elegans		WBGENE00016094
caenorhabditis_elegans		WBGENE00016095
caenorhabditis_elegans		WBGENE00017861
caenorhabditis_elegans		WBGENE00020798
caenorhabditis_elegans		WBGENE00021814
caenorhabditis_elegans		WBGENE00021870

Paralogs (6): MFSD10 (ENSG00000109736), MFSD1 (ENSG00000118855), MFSD9 (ENSG00000135953), MFSD14A (ENSG00000156875), MFSD8 (ENSG00000164073), MFSD5 (ENSG00000182544)

Protein

Protein identifiers

Solute carrier family 71 member 2 — Q5SR56 (reviewed: Q5SR56)

Alternative names: Hippocampus abundant transcript-like protein 1, Major facilitator superfamily domain-containing 14B

All UniProt accessions (1): Q5SR56

UniProt curated annotations — full annotation on UniProt →

Function. Probable membrane-bound transporter. May play a role in neuronal nutrient sensing and energy homeostasis.

Subcellular location. Endoplasmic reticulum membrane.

Similarity. Belongs to the SLC71A transporter family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q5SR56-1	1	yes
Q5SR56-2	2

RefSeq proteins (1): NP_115947* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001958	Tet-R_TetA/multi-R_MdtG-like	Family
IPR005829	Sugar_transporter_CS	Conserved_site
IPR011701	MFS	Family
IPR020846	MFS_dom	Domain
IPR036259	MFS_trans_sf	Homologous_superfamily

Pfam: PF07690

UniProt features (35 total): topological domain 13, transmembrane region 12, splice variant 3, region of interest 2, chain 1, compositionally biased region 1, glycosylation site 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5SR56-F1	77.00	0.52

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Glycosylation sites (1): 463

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 130 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, GSE45365_NK_CELL_VS_BCELL_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, IVANOVA_HEMATOPOIESIS_MATURE_CELL, ACATATC_MIR190, DOUGLAS_BMI1_TARGETS_DN, chr9q22, FOXJ2_02, GATA4_Q3, ACEVEDO_LIVER_CANCER_UP, TGCCTTA_MIR124A, MILI_PSEUDOPODIA_CHEMOTAXIS_DN, GOBP_TRANSMEMBRANE_TRANSPORT, SENESE_HDAC3_TARGETS_DN, MORI_MATURE_B_LYMPHOCYTE_UP

GO Biological Process (1): transmembrane transport (GO:0055085)

GO Molecular Function (2): transmembrane transporter activity (GO:0022857), protein binding (GO:0005515)

GO Cellular Component (2): endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	1
cellular process	1
transporter activity	1
transmembrane transport	1
binding	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

496 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC71A2	SLC61A1	Q6N075	575
SLC71A2	MFSD6	Q6ZSS7	516
SLC71A2	MFSD6L	Q8IWD5	482
SLC71A2	SLC33A2	Q96ES6	480
SLC71A2	MFSD12	Q6NUT3	478
SLC71A2	MFSD11	O43934	474
SLC71A2	LRRC71	Q8N4P6	463
SLC71A2	SLC37A3	Q8NCC5	458
SLC71A2	SLC68A1	Q14CX5	445
SLC71A2	TATDN3	Q17R31	418
SLC71A2	SPNS3	Q6ZMD2	413
SLC71A2	UNC93A	Q86WB7	406
SLC71A2	SLC67A2	Q8NBP5	387
SLC71A2	SVOPL	Q8N434	380
SLC71A2	MFSD1	Q9H3U5	373

IntAct

229 interactions, top by confidence:

A	B	Type	Score
LPCAT2	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
BNIP3	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
LEPROTL1	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
PEX16	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
GRM2	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
ERG28	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
TMEM19	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
MS4A1	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
CCL4L1	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
TUSC5	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
MFSD14B	TPRG1	psi-mi:“MI:0915”(physical association)	0.560
MFSD14B	FUNDC2	psi-mi:“MI:0915”(physical association)	0.560
MFSD14B	YIPF2	psi-mi:“MI:0915”(physical association)	0.560
MFSD14B	USE1	psi-mi:“MI:0915”(physical association)	0.560
COMT	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
ADIPOQ	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
PPGB	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
TSNARE1	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
MFSD14B	CSGALNACT2	psi-mi:“MI:0915”(physical association)	0.560
GOSR2	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560
MFSD14B	TIMMDC1	psi-mi:“MI:0915”(physical association)	0.560
MFSD14B	SLC39A9	psi-mi:“MI:0915”(physical association)	0.560
CLDN4	MFSD14B	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (105): HIATL1 (Affinity Capture-RNA), HIATL1 (Affinity Capture-RNA), HIATL1 (Two-hybrid), HIATL1 (Two-hybrid), HIATL1 (Two-hybrid), HIATL1 (Two-hybrid), HIATL1 (Two-hybrid), HIATL1 (Two-hybrid), HIATL1 (Two-hybrid), HIATL1 (Two-hybrid), HIATL1 (Two-hybrid), HIATL1 (Two-hybrid), HIATL1 (Two-hybrid), HIATL1 (Two-hybrid), HIATL1 (Two-hybrid)

ESM2 similar proteins: A1Z7R6, A2AWR3, A4IF94, A4IHK6, A5D7V7, B2RXV4, B2RYH9, O75387, P34711, P42557, P58355, P70187, Q09428, Q0P5V9, Q0VCM6, Q4LE88, Q5BK75, Q5BKX6, Q5F4B8, Q5RBM3, Q5RF58, Q5SR56, Q7Z3Q1, Q866G7, Q8BIV7, Q8BSM7, Q8C0T7, Q8CA03, Q8CGA3, Q8CIA9, Q8HYW2, Q8K0H7, Q8K4S3, Q8N370, Q8NBP5, Q8R3L5, Q96MC6, Q99624, Q99N02, Q9BY10

Diamond homologs: A4IF94, B2RYH9, P70187, Q0P5M9, Q5SR56, Q5VZR4, Q8CIA9, Q96MC6, K5B8L6, M2YI75, P02980, Q14728, Q8TFD3, Q9D2V8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

24 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	2
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2763 predictions. Top by Δscore:

Variant	Effect	Δscore
9:94395632:G:GT	donor_gain	1.0000
9:94415153:TTTA:T	acceptor_loss	1.0000
9:94415156:A:AG	acceptor_gain	1.0000
9:94415157:G:GT	acceptor_gain	1.0000
9:94415157:GC:G	acceptor_gain	1.0000
9:94415157:GCT:G	acceptor_gain	1.0000
9:94415157:GCTA:G	acceptor_gain	1.0000
9:94415157:GCTAC:G	acceptor_gain	1.0000
9:94415249:TGACT:T	donor_gain	1.0000
9:94415250:GACT:G	donor_gain	1.0000
9:94415250:GACTG:G	donor_gain	1.0000
9:94415251:ACT:A	donor_gain	1.0000
9:94415252:CT:C	donor_gain	1.0000
9:94415253:TG:T	donor_loss	1.0000
9:94415254:G:GA	donor_loss	1.0000
9:94415254:G:GG	donor_gain	1.0000
9:94415255:TA:T	donor_loss	1.0000
9:94415256:AA:A	donor_loss	1.0000
9:94429248:AAAG:A	donor_loss	1.0000
9:94429252:G:A	donor_loss	1.0000
9:94429253:T:G	donor_loss	1.0000
9:94438395:CTCCA:C	acceptor_loss	1.0000
9:94438396:TCCA:T	acceptor_loss	1.0000
9:94438397:CCA:C	acceptor_loss	1.0000
9:94438398:CA:C	acceptor_loss	1.0000
9:94438399:A:AG	acceptor_gain	1.0000
9:94438399:AG:A	acceptor_gain	1.0000
9:94438399:AGGGC:A	acceptor_loss	1.0000
9:94438400:G:A	acceptor_loss	1.0000
9:94438400:G:GG	acceptor_gain	1.0000

AlphaMissense

3289 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:94438459:G:T	R109M	1.000
9:94429243:G:C	G87R	0.999
9:94438435:G:A	G101D	0.999
9:94438444:C:T	S104F	0.999
9:94438459:G:C	R109T	0.999
9:94438460:G:C	R109S	0.999
9:94438460:G:T	R109S	0.999
9:94441055:G:C	A156P	0.999
9:94444971:C:A	A173D	0.999
9:94444985:A:C	S178R	0.999
9:94444987:T:A	S178R	0.999
9:94444987:T:G	S178R	0.999
9:94444997:A:C	S182R	0.999
9:94444999:C:A	S182R	0.999
9:94444999:C:G	S182R	0.999
9:94415215:T:C	F56L	0.998
9:94415217:C:A	F56L	0.998
9:94415217:C:G	F56L	0.998
9:94415227:G:C	G60R	0.998
9:94415231:T:C	L61P	0.998
9:94438401:G:C	G90R	0.998
9:94438434:G:C	G101R	0.998
9:94438443:T:C	S104P	0.998
9:94438444:C:A	S104Y	0.998
9:94438471:T:C	L113P	0.998
9:94441047:C:A	A153D	0.998
9:94441058:G:C	D157H	0.998
9:94441059:A:T	D157V	0.998
9:94444970:G:C	A173P	0.998
9:94444976:T:C	F175L	0.998

dbSNP variants (sampled 300 via entrez): RS1000013177 (9:94402222 C>G), RS1000049978 (9:94459854 C>A), RS1000080909 (9:94408586 G>C), RS1000102293 (9:94449002 A>C), RS1000119178 (9:94377149 T>C), RS1000134533 (9:94408291 G>A), RS1000142906 (9:94460277 G>A,C), RS1000160715 (9:94454727 ATGAC>A), RS1000184461 (9:94457280 T>C), RS1000236029 (9:94374341 A>T), RS1000266628 (9:94454493 G>A), RS1000267274 (9:94374225 C>T), RS1000293220 (9:94420194 C>A), RS1000334636 (9:94460426 A>AATC), RS1000386229 (9:94419932 T>A)

Disease associations

OMIM: gene MIM:620348 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST003873_1	Colorectal cancer (alcohol consumption interaction)	2.000000e-08
GCST003873_2	Colorectal cancer (alcohol consumption interaction)	1.000000e-07

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	decreases expression, increases abundance, affects methylation	2
Valproic Acid	increases expression	2
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression, increases abundance	1
beryllium sulfate	decreases expression	1
manganese chloride	increases abundance, increases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Air Pollutants, Occupational	decreases expression	1
Diuron	decreases expression	1
Manganese	increases abundance, increases expression	1
Nickel	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Tretinoin	increases expression	1
Vitamin E	decreases expression	1
Okadaic Acid	increases expression	1
Lactic Acid	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_D4GH	HCT116-MFSD14B-KO-c2	Cancer cell line	Male
CVCL_D4GI	HCT116-MFSD14B-KO-c3	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.