TMEM184A

Summary

TMEM184A (transmembrane protein 184A, HGNC:28797) is a protein-coding gene on chromosome 7p22.3, encoding Transmembrane protein 184A (Q6ZMB5). Acts as a heparin receptor in vascular cells.

Predicted to enable heparin binding activity and transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to act upstream of or within germ-line sex determination; regulation of protein localization; and regulation of secretion. Predicted to be located in cytoplasmic vesicle; perinuclear region of cytoplasm; and plasma membrane. Predicted to be active in early endosome membrane.

Source: NCBI Gene 202915 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 85 total
• MANE Select transcript: NM_001097620

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28797
Approved symbol	TMEM184A
Name	transmembrane protein 184A
Location	7p22.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC9712, SDMG1, SLC51C1
Ensembl gene	ENSG00000164855
Ensembl biotype	protein_coding
Entrez	202915

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 15 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000297477, ENST00000319010, ENST00000319018, ENST00000414730, ENST00000421923, ENST00000421996, ENST00000431208, ENST00000441933, ENST00000449955, ENST00000468535, ENST00000474813, ENST00000910336, ENST00000910337, ENST00000910339, ENST00000910340, ENST00000910342, ENST00000910344, ENST00000910345, ENST00000943039, ENST00000943040, ENST00000943041

RefSeq mRNA: 1 — MANE Select: NM_001097620 NM_001097620

CCDS: CCDS43537

Canonical transcript exons

ENST00000297477 — 9 exons

Exon	Start	End
ENSE00001239641	1542235	1547181
ENSE00001650723	1555266	1555484
ENSE00001767769	1556114	1556205
ENSE00003509873	1548519	1548688
ENSE00003521784	1550817	1550982
ENSE00003536087	1547742	1547939
ENSE00003637065	1549854	1549945
ENSE00003669381	1550123	1550198
ENSE00003787862	1550305	1550395

Expression profiles

Bgee: expression breadth ubiquitous, 230 present calls, max score 98.47.

FANTOM5 (CAGE): breadth broad, TPM avg 3.1632 / max 90.4549, expressed in 434 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
82430	0.8285	244
82429	0.5000	218
82433	0.4801	157
82431	0.4257	198
82427	0.3633	182
82428	0.3431	188
82426	0.1990	104
82432	0.0236	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	98.47	gold quality
esophagus mucosa	UBERON:0002469	96.45	gold quality
right uterine tube	UBERON:0001302	94.37	gold quality
buccal mucosa cell	CL:0002336	93.20	silver quality
vena cava	UBERON:0004087	92.76	gold quality
skin of abdomen	UBERON:0001416	92.44	gold quality
skin of leg	UBERON:0001511	91.85	gold quality
tendon of biceps brachii	UBERON:0008188	91.33	silver quality
mucosa of transverse colon	UBERON:0004991	90.96	gold quality
parotid gland	UBERON:0001831	90.62	gold quality
right lobe of liver	UBERON:0001114	90.48	gold quality
body of pancreas	UBERON:0001150	90.14	gold quality
pharyngeal mucosa	UBERON:0000355	89.76	gold quality
zone of skin	UBERON:0000014	89.51	gold quality
body of tongue	UBERON:0011876	88.05	gold quality
nasal cavity epithelium	UBERON:0005384	87.85	gold quality
cerebellar vermis	UBERON:0004720	87.81	silver quality
duodenum	UBERON:0002114	87.32	gold quality
saliva-secreting gland	UBERON:0001044	87.12	gold quality
minor salivary gland	UBERON:0001830	86.48	gold quality
mouth mucosa	UBERON:0003729	86.18	gold quality
esophagus squamous epithelium	UBERON:0006920	85.98	gold quality
vagina	UBERON:0000996	85.94	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	85.86	gold quality
trachea	UBERON:0003126	85.84	gold quality
lateral nuclear group of thalamus	UBERON:0002736	85.81	silver quality
tongue	UBERON:0001723	85.17	gold quality
substantia nigra pars compacta	UBERON:0001965	85.03	gold quality
lateral globus pallidus	UBERON:0002476	84.89	gold quality
nipple	UBERON:0002030	84.71	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	6.03

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 1)

• TMEM184A functions as a heparin receptor and mediates anti-inflammatory responses of endothelial cells involving decreased JNK and p38 activity. (PMID:26769965)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmem184a	ENSDARG00000104538
mus_musculus	Tmem184a	ENSMUSG00000036687
rattus_norvegicus	Tmem184a	ENSRNOG00000001275
caenorhabditis_elegans		WBGENE00009574

Paralogs (3): SLC51A (ENSG00000163959), TMEM184C (ENSG00000164168), TMEM184B (ENSG00000198792)

Protein

Protein identifiers

Transmembrane protein 184A — Q6ZMB5 (reviewed: Q6ZMB5)

All UniProt accessions (7): B7WNT3, C9J4I0, C9JDD9, C9JKG9, Q6ZMB5, F8W8F1, F8WEG1

UniProt curated annotations — full annotation on UniProt →

Function. Acts as a heparin receptor in vascular cells. May be involved in vesicle transport in exocrine cells and Sertoli cells.

Subcellular location. Cell membrane. Cytoplasm. Perinuclear region. Cytoplasmic vesicle membrane. Early endosome membrane. Endosome. Cytoplasmic vesicle. Secretory vesicle membrane.

Tissue specificity. Expressed in vascular cells (at protein level).

Similarity. Belongs to the TMEM184 family.

RefSeq proteins (1): NP_001091089* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR005178	Ostalpha/TMEM184C	Family

Pfam: PF03619

UniProt features (12 total): transmembrane region 7, sequence variant 2, chain 1, sequence conflict 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZMB5-F1	73.24	0.24

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 86 (showing top): RNGTGGGC_UNKNOWN, GOCC_SECRETORY_GRANULE, GCANCTGNY_MYOD_Q6, CAGCTG_AP4_Q5, chr7p22, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOMF_GLYCOSAMINOGLYCAN_BINDING, RYTTCCTG_ETS2_B, GOMF_HEPARIN_BINDING, NIKOLSKY_BREAST_CANCER_7P22_AMPLICON, GOBP_TRANSMEMBRANE_TRANSPORT, GOCC_SECRETORY_VESICLE, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, GOCC_EARLY_ENDOSOME_MEMBRANE, GOCC_SECRETORY_GRANULE_MEMBRANE

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

GO Molecular Function (2): heparin binding (GO:0008201), transmembrane transporter activity (GO:0022857)

GO Cellular Component (10): endosome (GO:0005768), plasma membrane (GO:0005886), transport vesicle membrane (GO:0030658), cytoplasmic vesicle membrane (GO:0030659), secretory granule membrane (GO:0030667), early endosome membrane (GO:0031901), perinuclear region of cytoplasm (GO:0048471), cytoplasm (GO:0005737), membrane (GO:0016020), cytoplasmic vesicle (GO:0031410)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasmic vesicle	2
cytoplasmic vesicle membrane	2
bounding membrane of organelle	2
cytoplasm	2
transport	1
cellular process	1
glycosaminoglycan binding	1
sulfur compound binding	1
transporter activity	1
transmembrane transport	1
endomembrane system	1
membrane	1
cell periphery	1
transport vesicle	1
vesicle membrane	1
secretory granule	1
early endosome	1
endosome membrane	1
intracellular anatomical structure	1
intracellular vesicle	1

Protein interactions and networks

STRING

540 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMEM184A	KCTD14	Q9BQ13	607
TMEM184A	TMEM190	Q8WZ59	509
TMEM184A	DNAI3	Q8IWG1	502
TMEM184A	TINAGL1	Q9GZM7	467
TMEM184A	OR56A3	Q8NH54	445
TMEM184A	ERICH4	A6NGS2	443
TMEM184A	TMEM128	Q5BJH2	419
TMEM184A	TMEM214	Q6NUQ4	414
TMEM184A	LRRCC1	Q9C099	404
TMEM184A	TRPV4	Q9HBA0	377
TMEM184A	AMBN	Q9NP70	362
TMEM184A	INSL3	P51460	352
TMEM184A	TMEM245	Q9H330	352
TMEM184A	PARM1	Q6UWI2	346
TMEM184A	GSTO2	Q9H4Y5	342

IntAct

7 interactions, top by confidence:

A	B	Type	Score
TMEM184A	SLC33A1	psi-mi:“MI:0914”(association)	0.530
TMEM184A	AHNAK	psi-mi:“MI:0915”(physical association)	0.400
TMEM184A	RCHY1	psi-mi:“MI:0915”(physical association)	0.370
TMEM184A	NRDC	psi-mi:“MI:0914”(association)	0.350

BioGRID (118): TMEM184A (Affinity Capture-RNA), ALDH4A1 (Affinity Capture-MS), PDP2 (Affinity Capture-MS), HIBCH (Affinity Capture-MS), GTF2F2 (Affinity Capture-MS), ME2 (Affinity Capture-MS), YARS2 (Affinity Capture-MS), IBA57 (Affinity Capture-MS), KCTD15 (Affinity Capture-MS), RBM38 (Affinity Capture-MS), ASS1 (Affinity Capture-MS), RRM1 (Affinity Capture-MS), ISCU (Affinity Capture-MS), BAIAP2L1 (Affinity Capture-MS), NRD1 (Affinity Capture-MS)

ESM2 similar proteins: A2VDL9, A9UY97, F4JY11, G4YM00, G4Z2L3, O17204, O42579, P15920, P16393, P20715, P30628, P36142, P54960, P70549, P93766, Q09906, Q18071, Q1RMW2, Q29BL9, Q2U0S9, Q3UF25, Q3UFJ6, Q4QQS1, Q54PI4, Q54WM0, Q5BPZ5, Q5FWM8, Q5RBL0, Q5XIT3, Q5Z413, Q61086, Q651J5, Q657S5, Q6P6G5, Q6VVA6, Q6ZMB5, Q7TSW6, Q86TL2, Q8BG09, Q8MRQ4

Diamond homologs: A2VDL9, Q09906, Q17QL9, Q1RMW2, Q28CV2, Q3TPR7, Q3UFJ6, Q4QQS1, Q54PI4, Q54WM0, Q5BPZ5, Q5RET6, Q5ZMP3, Q6GQE1, Q6ZMB5, Q75JN3, Q810F5, Q8BG09, Q9NVA4, Q9Y519, F4JTN2, Q94CA0, P36142

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	6
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

1975 predictions. Top by Δscore:

Variant	Effect	Δscore
7:1547002:T:TA	donor_gain	1.0000
7:1548687:CA:C	acceptor_gain	1.0000
7:1548689:C:CC	acceptor_gain	1.0000
7:1549852:A:AC	donor_gain	1.0000
7:1549853:C:CC	donor_gain	1.0000
7:1550118:CTCA:C	donor_loss	1.0000
7:1550121:A:C	donor_loss	1.0000
7:1550122:CCT:C	donor_loss	1.0000
7:1550303:A:AC	donor_gain	1.0000
7:1550304:C:CC	donor_gain	1.0000
7:1550392:AAGG:A	acceptor_gain	1.0000
7:1550393:AGG:A	acceptor_gain	1.0000
7:1550394:GG:G	acceptor_gain	1.0000
7:1550396:C:CC	acceptor_gain	1.0000
7:1550812:CCCA:C	donor_loss	1.0000
7:1550813:CCAC:C	donor_loss	1.0000
7:1550814:CA:C	donor_loss	1.0000
7:1550815:ACC:A	donor_loss	1.0000
7:1550978:TAGAT:T	acceptor_gain	1.0000
7:1555260:GCTTA:G	donor_loss	1.0000
7:1555261:CTTAC:C	donor_loss	1.0000
7:1555262:TTAC:T	donor_loss	1.0000
7:1555263:TAC:T	donor_loss	1.0000
7:1555264:A:C	donor_loss	1.0000
7:1555265:C:A	donor_loss	1.0000
7:1546959:T:TA	donor_gain	0.9900
7:1547182:C:CC	acceptor_gain	0.9900
7:1547736:GTGTA:G	donor_loss	0.9900
7:1547737:TGTA:T	donor_loss	0.9900
7:1547739:TA:T	donor_loss	0.9900

AlphaMissense

2680 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:1548637:G:C	S232R	0.997
7:1548637:G:T	S232R	0.997
7:1548639:T:G	S232R	0.997
7:1550126:C:A	K183N	0.996
7:1550126:C:G	K183N	0.996
7:1549931:G:C	F189L	0.995
7:1549931:G:T	F189L	0.995
7:1549933:A:G	F189L	0.995
7:1549938:A:G	L187P	0.995
7:1550376:G:C	F135L	0.995
7:1550376:G:T	F135L	0.995
7:1550378:A:G	F135L	0.995
7:1547096:G:C	N366K	0.994
7:1547096:G:T	N366K	0.994
7:1547107:C:G	A363P	0.994
7:1550368:A:G	L138P	0.994
7:1550379:G:C	S134R	0.994
7:1550379:G:T	S134R	0.994
7:1550381:T:G	S134R	0.994
7:1550941:T:A	Q87H	0.993
7:1550941:T:G	Q87H	0.993
7:1547782:G:C	F324L	0.992
7:1547782:G:T	F324L	0.992
7:1547784:A:G	F324L	0.992
7:1547824:G:C	C310W	0.992
7:1549919:C:A	K193N	0.992
7:1549919:C:G	K193N	0.992
7:1549945:C:G	A185P	0.992
7:1548547:T:A	K262N	0.991
7:1548547:T:G	K262N	0.991

dbSNP variants (sampled 300 via entrez): RS1000028094 (7:1552429 C>A,T), RS1000036040 (7:1544148 C>T), RS1000162679 (7:1555513 G>A,C), RS1000278337 (7:1555673 C>T), RS1000364926 (7:1547295 G>A,C), RS1000837108 (7:1548231 C>A,G,T), RS1000995920 (7:1544642 C>G,T), RS1001044505 (7:1555625 G>A), RS1001069436 (7:1551699 G>A), RS1001433605 (7:1551458 A>G), RS1001474082 (7:1554519 A>G), RS1001540697 (7:1551901 C>T), RS1001582978 (7:1547567 C>T), RS1001968638 (7:1551702 C>T), RS1002071299 (7:1555875 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

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

Chemical	Actions (top 5)	PubMed papers
Cisplatin	affects cotreatment, decreases expression	2
Cadmium Chloride	decreases expression, increases expression	2
FR900359	decreases phosphorylation	1
bisphenol A	decreases methylation	1
ethyl-p-hydroxybenzoate	increases expression	1
sodium arsenite	decreases expression	1
perfluoro-n-nonanoic acid	increases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Estradiol	affects cotreatment, decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	increases methylation	1

Clinical trials (associated diseases)

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