TMEM185B

Summary

TMEM185B (transmembrane protein 185B, HGNC:18896) is a protein-coding gene on chromosome 2q14.2, encoding Transmembrane protein 185B (Q9H7F4).

Predicted to be located in membrane.

Source: NCBI Gene 79134 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 51 total
• MANE Select transcript: NM_024121

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18896
Approved symbol	TMEM185B
Name	transmembrane protein 185B
Location	2q14.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20979
Ensembl gene	ENSG00000226479
Ensembl biotype	protein_coding
Entrez	79134

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000426077

RefSeq mRNA: 1 — MANE Select: NM_024121 NM_024121

CCDS: CCDS58722

Canonical transcript exons

ENST00000426077 — 1 exons

Exon	Start	End
ENSE00001594122	120217479	120223400

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 85.34.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.0037 / max 113.6167, expressed in 1798 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
30429	18.3202	1798
30428	0.6835	443

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	85.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.42	gold quality
stromal cell of endometrium	CL:0002255	82.25	gold quality
decidua	UBERON:0002450	81.11	gold quality
apex of heart	UBERON:0002098	81.02	gold quality
granulocyte	CL:0000094	80.89	gold quality
left uterine tube	UBERON:0001303	80.69	gold quality
oocyte	CL:0000023	80.29	gold quality
islet of Langerhans	UBERON:0000006	80.19	gold quality
ventricular zone	UBERON:0003053	80.19	gold quality
heart left ventricle	UBERON:0002084	79.79	gold quality
cardiac ventricle	UBERON:0002082	79.55	gold quality
hindlimb stylopod muscle	UBERON:0004252	79.43	gold quality
lower esophagus	UBERON:0013473	79.13	gold quality
lower esophagus muscularis layer	UBERON:0035833	79.13	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	79.02	gold quality
cardiac atrium	UBERON:0002081	78.95	gold quality
right atrium auricular region	UBERON:0006631	78.88	gold quality
heart	UBERON:0000948	78.78	gold quality
muscle layer of sigmoid colon	UBERON:0035805	78.76	gold quality
omental fat pad	UBERON:0010414	78.72	gold quality
peritoneum	UBERON:0002358	78.69	gold quality
cardiac muscle of right atrium	UBERON:0003379	78.69	silver quality
left ventricle myocardium	UBERON:0006566	78.62	silver quality
esophagus	UBERON:0001043	78.59	gold quality
gastrocnemius	UBERON:0001388	78.57	gold quality
muscle of leg	UBERON:0001383	78.51	gold quality
esophagus mucosa	UBERON:0002469	78.36	gold quality
cartilage tissue	UBERON:0002418	78.35	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	78.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.40

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• The mouse ee3 is an orphan G-protein-coupled receptor with potential connections to erythropoietin and 5HT2a receptor signalling. ee3_2, a similar gene, is also described, along with human orthologs. (PMID:15525354)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tmem185b	ENSMUSG00000098923
rattus_norvegicus	Tmem185b	ENSRNOG00000067956
drosophila_melanogaster	CG14194	FBGN0030996
caenorhabditis_elegans		WBGENE00013789

Paralogs (2): TMEM60 (ENSG00000135211), TMEM185A (ENSG00000269556)

Protein

Protein identifiers

Transmembrane protein 185B — Q9H7F4 (reviewed: Q9H7F4)

Alternative names: Protein FAM11B

All UniProt accessions (1): Q9H7F4

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the TMEM185 family.

RefSeq proteins (1): NP_077026* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019396	TM_Fragile-X-F-assoc	Family

Pfam: PF10269

UniProt features (11 total): transmembrane region 7, sequence conflict 3, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H7F4-F1	78.98	0.52

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 66 (showing top): MODULE_205, chr2q14, BOYAULT_LIVER_CANCER_SUBCLASS_G3_UP, LU_EZH2_TARGETS_DN, FIGUEROA_AML_METHYLATION_CLUSTER_6_UP, PANGAS_TUMOR_SUPPRESSION_BY_SMAD1_AND_SMAD5_DN, DURAND_STROMA_NS_UP, GSE13547_WT_VS_ZFX_KO_BCELL_ANTI_IGM_STIM_12H_DN, H1_6_TARGET_GENES, KAT5_TARGET_GENES, ZNF350_TARGET_GENES, ZNF423_TARGET_GENES, ZNF507_TARGET_GENES, MIR6739_5P, MIR6733_5P

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

446 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM185B	DBNDD2	Q9BQY9	487
TMEM185B	EPB41L5	Q9HCM4	474
TMEM185B	FAM111B	Q6SJ93	447
TMEM185B	PTPN4	P29074	430
TMEM185B	PROSER1	Q86XN7	418
TMEM185B	ZNF534	Q76KX8	399
TMEM185B	C11orf71	Q6IPW1	379
TMEM185B	MS4A13	Q5J8X5	375
TMEM185B	NOL8	Q76FK4	375
TMEM185B	KIAA0825	Q8IV33	374
TMEM185B	TMEM203	Q969S6	360
TMEM185B	SIRAL1	Q9BPY3	360
TMEM185B	OR12D2	P58182	354
TMEM185B	MTNAP1	Q9BSJ5	353
TMEM185B	AMZ2	Q86W34	353

IntAct

5 interactions, top by confidence:

A	B	Type	Score
TMEM185A	TSPAN6	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
TMEM185A	AGA	psi-mi:“MI:0914”(association)	0.350

BioGRID (11): TMEM185B (Affinity Capture-MS), TMEM185B (Affinity Capture-MS), TMEM185B (Affinity Capture-MS), TMEM185B (Affinity Capture-MS), TMEM185B (Affinity Capture-MS), TMEM185A (Negative Genetic), TMEM185B (Positive Genetic), TMEM185B (Cross-Linking-MS (XL-MS)), TMEM185B (Proximity Label-MS), TMEM185B (Proximity Label-MS), TMEM185B (Proximity Label-MS)

ESM2 similar proteins: A2AF53, A4FV75, A4K2N5, A4K2W1, A5A6S6, A6QL84, A6ZIQ8, A9JRA0, B1AZA5, D3ZEH5, D3ZXD8, E1BD52, O60337, P58749, Q08DE2, Q108U3, Q2TBU2, Q3SYY9, Q3TMP8, Q4R5E3, Q58DA4, Q5BJW3, Q5JZQ8, Q5R8H8, Q5R9W1, Q5RBJ7, Q5RFE0, Q5ZII3, Q62302, Q6UWH6, Q6ZQ89, Q78S06, Q7SYC7, Q7ZUA6, Q86W33, Q8CIF6, Q8K0B2, Q8N2H4, Q8NBJ9, Q8NFB2

Diamond homologs: A2AF53, Q08DE2, Q5R8H8, Q7SYC7, Q8NFB2, Q8R3R5, Q9H7F4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	49
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

116 predictions. Top by Δscore:

Variant	Effect	Δscore
2:120222602:C:CT	acceptor_gain	0.6900
2:120222903:G:T	acceptor_gain	0.6900
2:120222596:C:CT	acceptor_gain	0.6700
2:120222604:C:CT	acceptor_gain	0.6500
2:120222605:G:T	acceptor_gain	0.6400
2:120222902:C:CT	acceptor_gain	0.6100
2:120222684:TCGA:T	donor_gain	0.5800
2:120222835:A:C	acceptor_gain	0.5300
2:120222596:C:T	acceptor_gain	0.5200
2:120222425:C:CT	acceptor_gain	0.5100
2:120222384:C:CT	acceptor_gain	0.4700
2:120222684:T:TA	donor_gain	0.4700
2:120222598:C:CT	acceptor_gain	0.4400
2:120222611:C:CT	acceptor_gain	0.4400
2:120222834:CA:C	acceptor_gain	0.4400
2:120222938:A:AC	donor_gain	0.4400
2:120222939:C:CC	donor_gain	0.4400
2:120222561:GACCT:G	acceptor_loss	0.4300
2:120222562:ACCTA:A	acceptor_loss	0.4300
2:120222563:CCTA:C	acceptor_loss	0.4300
2:120222564:C:A	acceptor_loss	0.4300
2:120222565:T:A	acceptor_loss	0.4300
2:120222574:G:T	acceptor_loss	0.4100
2:120222582:C:T	acceptor_gain	0.4000
2:120222613:C:CT	acceptor_gain	0.4000
2:120222939:CTGGG:C	donor_gain	0.3900
2:120222586:C:CT	acceptor_gain	0.3800
2:120222559:GCGAC:G	acceptor_gain	0.3700
2:120222560:CGACC:C	acceptor_gain	0.3700
2:120222568:CG:C	acceptor_gain	0.3700

AlphaMissense

2274 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:120222451:A:G	W176R	0.996
2:120222451:A:T	W176R	0.996
2:120222095:G:C	N294K	0.995
2:120222095:G:T	N294K	0.995
2:120222430:A:G	C183R	0.995
2:120222456:G:C	P174R	0.995
2:120222585:A:T	V131D	0.995
2:120222624:G:C	P118R	0.995
2:120222166:A:G	W271R	0.994
2:120222166:A:T	W271R	0.994
2:120222456:G:T	P174H	0.994
2:120222530:G:C	N149K	0.994
2:120222530:G:T	N149K	0.994
2:120222583:A:G	W132R	0.994
2:120222583:A:T	W132R	0.994
2:120222159:C:T	G273D	0.993
2:120222309:G:C	P223R	0.993
2:120222580:C:G	G133R	0.993
2:120222581:C:A	W132C	0.993
2:120222581:C:G	W132C	0.993
2:120222591:G:T	A129D	0.993
2:120222589:A:G	C130R	0.992
2:120222099:C:T	G293E	0.991
2:120222231:G:C	P249R	0.991
2:120222481:A:G	W166R	0.991
2:120222481:A:T	W166R	0.991
2:120222507:G:T	A157D	0.991
2:120222541:A:G	C146R	0.991
2:120222549:T:A	E143V	0.991
2:120222624:G:T	P118H	0.991

dbSNP variants (sampled 300 via entrez): RS1000077232 (2:120217557 A>G,T), RS1000362276 (2:120222706 G>A), RS1000921415 (2:120220969 A>C), RS1001340313 (2:120223436 T>C), RS1001871285 (2:120218970 A>G), RS1001924449 (2:120220058 A>G), RS1002020767 (2:120220385 T>G), RS1002592192 (2:120224532 C>T), RS1002831290 (2:120218775 A>G), RS1003272403 (2:120225012 C>A), RS1003324699 (2:120225268 G>A), RS1003435116 (2:120219725 A>C), RS1003508784 (2:120221293 A>G), RS1003773162 (2:120219234 G>C), RS1004946780 (2:120218826 T>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

31 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	increases expression	3
Valproic Acid	affects expression, decreases expression, increases methylation	3
Ethyl Methanesulfonate	decreases expression, increases expression	2
Methyl Methanesulfonate	decreases expression, increases expression	2
Nickel	increases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cyclosporine	increases expression	2
GSK-J4	decreases expression	1
trichostatin A	affects expression	1
cobaltous chloride	decreases expression	1
avobenzone	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Acetaminophen	increases expression	1
Adenine	decreases expression	1
Cisplatin	decreases expression	1
Colchicine	decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Etoposide	decreases expression	1
Hydrogen Peroxide	affects expression	1
Hydroxyurea	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Aflatoxin B1	affects expression	1

Clinical trials (associated diseases)

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