TMEM247

Summary

TMEM247 (transmembrane protein 247, HGNC:42967) is a protein-coding gene on chromosome 2p21, encoding Transmembrane protein 247 (A6NEH6).

Predicted to be located in membrane. Predicted to be active in endoplasmic reticulum.

Source: NCBI Gene 388946 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_001424184

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:42967
Approved symbol	TMEM247
Name	transmembrane protein 247
Location	2p21
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000284701
Ensembl biotype	protein_coding
Entrez	388946

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000434431

RefSeq mRNA: 1 — MANE Select: NM_001424184 NM_001424184

CCDS: CCDS56117

Canonical transcript exons

ENST00000434431 — 3 exons

Exon	Start	End
ENSE00001382764	46480405	46480764
ENSE00001696881	46479565	46479702
ENSE00001774845	46484244	46484425

Expression profiles

Bgee: expression breadth broad, 16 present calls, max score 90.56.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right testis	UBERON:0004534	90.56	gold quality
left testis	UBERON:0004533	90.52	gold quality
testis	UBERON:0000473	89.79	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.93	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	78.75	gold quality
placenta	UBERON:0001987	65.04	gold quality
sural nerve	UBERON:0015488	44.91	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
right coronary artery	UBERON:0001625	31.39	silver quality
muscle tissue	UBERON:0002385	31.06	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
liver	UBERON:0002107	29.50	gold quality
urinary bladder	UBERON:0001255	29.35	gold quality
prefrontal cortex	UBERON:0000451	29.26	gold quality
tonsil	UBERON:0002372	28.75	gold quality
duodenum	UBERON:0002114	28.14	gold quality
monocyte	CL:0000576	27.88	gold quality
leukocyte	CL:0000738	27.86	gold quality
lymph node	UBERON:0000029	27.57	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
blood	UBERON:0000178	26.48	gold quality
muscle of leg	UBERON:0001383	26.48	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.82

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem247	ENSMUSG00000037689
rattus_norvegicus	Tmem247	ENSRNOG00000046926

Protein

Protein identifiers

Transmembrane protein 247 — A6NEH6 (reviewed: A6NEH6)

All UniProt accessions (1): A6NEH6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001411113* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029200	TMEM247	Family

Pfam: PF15444

UniProt features (7 total): transmembrane region 2, compositionally biased region 2, chain 1, region of interest 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A6NEH6-F1	67.50	0.21

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 10 (showing top): GSE13306_TREG_VS_TCONV_LAMINA_PROPRIA_DN, GSE14000_TRANSLATED_RNA_VS_MRNA_16H_LPS_DC_UP, GSE22045_TREG_VS_TCONV_UP, GSE29614_CTRL_VS_DAY7_TIV_FLU_VACCINE_PBMC_UP, GSE34205_RSV_VS_FLU_INF_INFANT_PBMC_UP, chr2p21, GSE3691_CONVENTIONAL_VS_PLASMACYTOID_DC_SPLEEN_DN, GSE24210_IL35_TREATED_VS_UNTREATED_TCONV_CD4_TCELL_DN, GSE24972_MARGINAL_ZONE_BCELL_VS_FOLLICULAR_BCELL_IRF8_KO_DN, GSE24972_MARGINAL_ZONE_BCELL_VS_FOLLICULAR_BCELL_UP

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

218 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM247	ATP6V1E2	Q96A05	724
TMEM247	CRIPT	Q9P021	690
TMEM247	RHOQ	P17081	560
TMEM247	PIGF	Q07326	560
TMEM247	PRR22	Q8IZ63	553
TMEM247	STPG4	Q8N801	541
TMEM247	ZNF583	Q96ND8	512
TMEM247	TRIM67	Q6ZTA4	507
TMEM247	WDR89	Q96FK6	478
TMEM247	UQCC6	Q69YU5	473
TMEM247	ANKH	Q9HCJ1	458
TMEM247	ACTRT2	Q8TDY3	452
TMEM247	CCDC81	Q6ZN84	445
TMEM247	ZFAND2A	Q8N6M9	425
TMEM247	DUS3L	Q96G46	419

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A2AFS9, A6H754, A6NC78, A6NEH6, A6NFA0, A6NMD2, A7E2F4, A8MVX0, B2RQL2, D2HQI1, D6RF30, H3BQL2, P0CJ92, P0DX53, P24001, Q14BK3, Q1RN00, Q2YDG1, Q32KP7, Q32LI3, Q3B8N5, Q3T020, Q3TCJ8, Q497K7, Q497N6, Q642A3, Q66HF0, Q68US1, Q6AXN6, Q6GVM5, Q6K1E7, Q6ZVD7, Q7L3B6, Q7L4S7, Q7Z572, Q80VY2, Q86WR6, Q8BII1, Q8BW86, Q8N6T0

Diamond homologs: A6NEH6, Q2YDG1, Q497K7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	35
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

312 predictions. Top by Δscore:

Variant	Effect	Δscore
2:46479684:G:T	donor_gain	0.9900
2:46480760:GCCTG:G	donor_gain	0.9900
2:46480762:CTGGT:C	donor_loss	0.9900
2:46480763:TGGT:T	donor_loss	0.9900
2:46480765:G:GC	donor_loss	0.9900
2:46480778:A:T	donor_gain	0.9900
2:46482574:A:T	donor_gain	0.9900
2:46484242:A:AC	acceptor_loss	0.9900
2:46484242:A:AG	acceptor_gain	0.9900
2:46484243:G:GT	acceptor_gain	0.9900
2:46484243:GT:G	acceptor_gain	0.9900
2:46479684:G:GT	donor_gain	0.9800
2:46480399:C:G	acceptor_gain	0.9800
2:46480767:GGGT:G	donor_loss	0.9800
2:46480768:GGTGA:G	donor_loss	0.9800
2:46480777:G:GT	donor_gain	0.9800
2:46484238:CCACA:C	acceptor_gain	0.9800
2:46484239:CACAG:C	acceptor_gain	0.9800
2:46484240:ACAGT:A	acceptor_gain	0.9800
2:46484241:C:G	acceptor_gain	0.9800
2:46484241:CAGT:C	acceptor_gain	0.9800
2:46484243:GTT:G	acceptor_gain	0.9800
2:46484243:GTTTT:G	acceptor_gain	0.9800
2:46480401:CCAGG:C	acceptor_gain	0.9700
2:46480685:T:TA	donor_gain	0.9700
2:46480686:G:GA	donor_gain	0.9700
2:46480765:G:GG	donor_gain	0.9700
2:46484240:A:AG	acceptor_gain	0.9700
2:46484242:AG:A	acceptor_gain	0.9700
2:46484243:G:T	acceptor_gain	0.9700

AlphaMissense

1437 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:46480624:T:C	F113L	0.966
2:46480626:C:A	F113L	0.966
2:46480626:C:G	F113L	0.966
2:46480631:T:C	L115P	0.964
2:46480640:T:C	L118P	0.962
2:46484304:T:C	C180R	0.953
2:46484339:G:C	K191N	0.949
2:46484339:G:T	K191N	0.949
2:46484379:T:C	C205R	0.941
2:46480616:G:C	R110P	0.935
2:46484376:T:C	F204L	0.932
2:46484378:C:A	F204L	0.932
2:46484378:C:G	F204L	0.932
2:46484307:T:C	F181L	0.931
2:46484309:C:A	F181L	0.931
2:46484309:C:G	F181L	0.931
2:46480637:G:C	R117P	0.921
2:46484286:T:C	F174L	0.911
2:46484288:T:A	F174L	0.911
2:46484288:T:G	F174L	0.911
2:46484319:C:G	H185D	0.911
2:46484411:A:C	K215N	0.909
2:46484411:A:T	K215N	0.909
2:46484352:T:C	F196L	0.903
2:46484354:T:A	F196L	0.903
2:46484354:T:G	F196L	0.903
2:46480649:T:C	L121P	0.901
2:46480620:G:A	M111I	0.900
2:46480620:G:C	M111I	0.900
2:46480620:G:T	M111I	0.900

dbSNP variants (sampled 300 via entrez): RS1000983770 (2:46480460 C>A,G,T), RS1001106785 (2:46477609 C>T), RS1001514404 (2:46484488 A>C,T), RS1002127666 (2:46484248 C>G,T), RS1002459724 (2:46479973 T>A), RS1002792352 (2:46482044 A>G,T), RS1003028470 (2:46483134 T>C), RS1003333527 (2:46478955 A>C), RS1003854732 (2:46481064 G>C), RS1004857136 (2:46482313 T>C), RS1005020063 (2:46478871 C>A), RS1005395748 (2:46478616 GGT>G), RS1005408905 (2:46477959 T>C), RS1005476765 (2:46480961 G>A), RS1005528831 (2:46480349 G>C)

Disease associations

OMIM: gene `` | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
2-palmitoylglycerol	increases expression	1
Valproic Acid	increases methylation	1
Permethrin	decreases expression	1

Clinical trials (associated diseases)

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