TMEM217B

Summary

TMEM217B (transmembrane protein 217B, HGNC:55922) is a protein-coding gene on chromosome 6p21.2, encoding Transmembrane protein 217B (A0A494BZU4).

Predicted to be located in membrane.

Source: NCBI Gene 121725057 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001395378

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:55922
Approved symbol	TMEM217B
Name	transmembrane protein 217B
Location	6p21.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000286105
Ensembl biotype	protein_coding
Entrez	121725057

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000478262, ENST00000497775, ENST00000650812

RefSeq mRNA: 3 — MANE Select: NM_001395378 NM_001395377, NM_001395378, NM_001395938

CCDS: CCDS93907

Canonical transcript exons

ENST00000497775 — 2 exons

Exon	Start	End
ENSE00003848323	37212181	37212996
ENSE00003978287	37257568	37258144

Expression profiles

Bgee: expression breadth ubiquitous, 101 present calls, max score 80.34.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.34	gold quality
left testis	UBERON:0004533	75.08	gold quality
right testis	UBERON:0004534	74.88	gold quality
testis	UBERON:0000473	74.20	gold quality
lower esophagus mucosa	UBERON:0035834	62.84	gold quality
stromal cell of endometrium	CL:0002255	62.68	gold quality
esophagus mucosa	UBERON:0002469	50.09	gold quality
right adrenal gland cortex	UBERON:0035827	49.68	gold quality
right adrenal gland	UBERON:0001233	49.63	gold quality
minor salivary gland	UBERON:0001830	49.50	gold quality
saliva-secreting gland	UBERON:0001044	48.70	gold quality
islet of Langerhans	UBERON:0000006	47.41	gold quality
bone marrow	UBERON:0002371	46.24	gold quality
mucosa of transverse colon	UBERON:0004991	45.16	gold quality
putamen	UBERON:0001874	43.22	gold quality
nucleus accumbens	UBERON:0001882	41.93	gold quality
right lobe of liver	UBERON:0001114	41.37	gold quality
left adrenal gland cortex	UBERON:0035825	41.14	gold quality
caudate nucleus	UBERON:0001873	41.07	gold quality
bone marrow cell	CL:0002092	40.88	gold quality
placenta	UBERON:0001987	40.77	gold quality
esophagus	UBERON:0001043	40.75	gold quality
granulocyte	CL:0000094	40.74	gold quality
upper lobe of left lung	UBERON:0008952	40.65	gold quality
ascending aorta	UBERON:0001496	39.45	gold quality
omental fat pad	UBERON:0010414	39.30	gold quality
liver	UBERON:0002107	39.27	gold quality
thoracic aorta	UBERON:0001515	39.25	gold quality
gall bladder	UBERON:0002110	39.16	gold quality
right coronary artery	UBERON:0001625	39.08	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6142	no	15.99
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem217b	ENSMUSG00000091614
rattus_norvegicus	Tmem217b	ENSRNOG00000065684

Paralogs (1): TMEM217 (ENSG00000172738)

Protein

Protein identifiers

Transmembrane protein 217B — A0A494BZU4 (reviewed: A0A494BZU4)

All UniProt accessions (1): A0A494BZU4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Miscellaneous. Found in the 3’UTR of TMEM217/ AC Q8N7C4. Cotranscriptional with TMEM217 and seems to be only ever transcribed from the same promoter region.

RefSeq proteins (3): NP_001382306, NP_001382307, NP_001382867 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027862	DUF4534	Family

Pfam: PF15049

UniProt features (9 total): topological domain 4, transmembrane region 3, signal peptide 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A494BZU4-F1	76.53	0.02

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chr6p21

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	1

Protein interactions and networks

STRING

272 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM217B	C1QTNF2	Q9BXJ5	505
TMEM217B	C2orf66	Q6UXQ4	480
TMEM217B	ARSG	Q96EG1	409
TMEM217B	LPXN	O60711	403
TMEM217B	CCDC190	Q86UF4	392
TMEM217B	CERCAM	Q5T4B2	387
TMEM217B	ZFP14	Q9HCL3	386
TMEM217B	CCDC86	Q9H6F5	383
TMEM217B	MRPL14	Q6P1L8	383
TMEM217B	SPATA17	Q96L03	382
TMEM217B	TMEM35A	Q53FP2	380
TMEM217B	RNF150	Q9ULK6	374
TMEM217B	ZNF600	Q6ZNG1	369
TMEM217B	CCNJL	Q8IV13	363
TMEM217B	RTL3	Q8N8U3	360

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A494BZU4, A0A7H0DND7, A0JNG0, A2T345, A4IIV4, C4QM85, E7F594, G5EDX4, O02051, O45306, P0DP42, P0DST5, P0DST6, P21061, P24763, P34362, P34363, P53053, Q09282, Q0II41, Q10907, Q11071, Q11085, Q13571, Q20249, Q297K8, Q2KHT4, Q2KJA5, Q32KQ5, Q5DC12, Q5GH77, Q5PQM0, Q5RD28, Q5REZ0, Q5TAH2, Q61168, Q6AXT9, Q6GV27, Q6GV28, Q7K1V5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	0
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

608 predictions. Top by Δscore:

Variant	Effect	Δscore
6:37257947:G:GT	donor_gain	1.0000
6:37257971:G:T	donor_gain	1.0000
6:37257971:GAGGT:G	donor_loss	1.0000
6:37257972:AGG:A	donor_loss	1.0000
6:37257973:GGTG:G	donor_loss	1.0000
6:37257974:G:C	donor_loss	1.0000
6:37257975:T:G	donor_loss	1.0000
6:37212993:CCTC:C	acceptor_gain	0.9900
6:37212994:CTC:C	acceptor_gain	0.9900
6:37212994:CTCC:C	acceptor_gain	0.9900
6:37212995:TCCT:T	acceptor_gain	0.9900
6:37212995:TCCTG:T	acceptor_loss	0.9900
6:37212997:CTGCA:C	acceptor_loss	0.9900
6:37212998:T:A	acceptor_loss	0.9900
6:37218875:TGC:T	donor_gain	0.9900
6:37257969:GGGAG:G	donor_gain	0.9900
6:37257970:GGAGG:G	donor_gain	0.9900
6:37257971:G:GT	donor_gain	0.9900
6:37257984:G:GT	donor_gain	0.9900
6:37212995:TC:T	acceptor_gain	0.9800
6:37212996:CC:C	acceptor_gain	0.9800
6:37212997:C:CC	acceptor_gain	0.9800
6:37257958:C:G	donor_gain	0.9800
6:37257970:GGAG:G	donor_gain	0.9800
6:37257971:GAG:G	donor_gain	0.9800
6:37212920:T:TC	acceptor_gain	0.9700
6:37218874:TTG:T	donor_gain	0.9700
6:37257974:G:GG	donor_gain	0.9700
6:37212992:ACCTC:A	acceptor_gain	0.9600
6:37212993:CCTCC:C	acceptor_gain	0.9600

AlphaMissense

1141 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:37212696:A:G	W92R	0.927
6:37212696:A:T	W92R	0.927
6:37212756:A:G	C72R	0.785
6:37212625:G:C	F115L	0.768
6:37212625:G:T	F115L	0.768
6:37212627:A:G	F115L	0.768
6:37212717:C:G	G85R	0.759
6:37212717:C:T	G85R	0.759
6:37212931:G:C	F13L	0.759
6:37212931:G:T	F13L	0.759
6:37212933:A:G	F13L	0.759
6:37212856:G:C	F38L	0.735
6:37212856:G:T	F38L	0.735
6:37212858:A:G	F38L	0.735
6:37212680:T:A	E97V	0.731
6:37212907:G:C	F21L	0.728
6:37212907:G:T	F21L	0.728
6:37212909:A:G	F21L	0.728
6:37212759:C:G	G71R	0.727
6:37212939:C:G	G11R	0.725
6:37212564:A:G	C136R	0.721
6:37212938:C:T	G11D	0.717
6:37212694:C:A	W92C	0.683
6:37212694:C:G	W92C	0.683
6:37212741:A:G	C77R	0.678
6:37212540:C:G	A144P	0.654
6:37212560:A:C	L137R	0.650
6:37212739:A:C	C77W	0.650
6:37212553:G:C	F139L	0.636
6:37212553:G:T	F139L	0.636

dbSNP variants (sampled 300 via entrez): RS1000051521 (6:37222714 A>G), RS1000157819 (6:37212767 A>G), RS1000224420 (6:37244932 C>G), RS1000246978 (6:37251021 C>T), RS1000281311 (6:37229552 C>G,T), RS1000298086 (6:37250656 A>G), RS1000312602 (6:37236305 C>T), RS1000324014 (6:37236004 T>C), RS1000410070 (6:37238121 T>C), RS1000491053 (6:37212571 G>A), RS1000517058 (6:37241929 G>A), RS1000564959 (6:37246333 CAT>C), RS1000588771 (6:37243774 G>A), RS1000595801 (6:37253363 T>C), RS1000644040 (6:37234930 A>G)

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

1 total (human), top 1 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
2,6-dichloro-(1,4)benzoquinone	increases expression	1

Clinical trials (associated diseases)

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