TMA7

Summary

TMA7 (translation machinery associated 7 homolog, HGNC:26932) is a protein-coding gene on chromosome 3p21.31, encoding Translation machinery-associated protein 7 (Q9Y2S6).

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_015933

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26932
Approved symbol	TMA7
Name	translation machinery associated 7 homolog
Location	3p21.31
Locus type	gene with protein product
Status	Approved
Aliases	HSPC016
Ensembl gene	ENSG00000232112
Ensembl biotype	protein_coding
OMIM	615808
Entrez	51372

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 9 protein_coding, 2 retained_intron

ENST00000438607, ENST00000477624, ENST00000479126, ENST00000853534, ENST00000927147, ENST00000927148, ENST00000927149, ENST00000927150, ENST00000927151, ENST00000927152, ENST00000927153

RefSeq mRNA: 2 — MANE Select: NM_015933 NM_001329417, NM_015933

CCDS: CCDS46823

Canonical transcript exons

ENST00000438607 — 4 exons

Exon	Start	End
ENSE00001758427	48440403	48440458
ENSE00001813838	48443848	48444208
ENSE00003485384	48440257	48440312
ENSE00003580153	48440541	48440628

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 62.9193 / max 403.4021, expressed in 1826 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
36574	60.2632	1826
36575	2.6561	1238

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	99.44	gold quality
nucleus accumbens	UBERON:0001882	99.43	gold quality
hypothalamus	UBERON:0001898	99.43	gold quality
adenohypophysis	UBERON:0002196	99.43	gold quality
pituitary gland	UBERON:0000007	99.42	gold quality
putamen	UBERON:0001874	99.42	gold quality
amygdala	UBERON:0001876	99.42	gold quality
caudate nucleus	UBERON:0001873	99.40	gold quality
substantia nigra	UBERON:0002038	99.38	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	99.38	gold quality
temporal lobe	UBERON:0001871	99.37	gold quality
monocyte	CL:0000576	99.36	gold quality
leukocyte	CL:0000738	99.36	gold quality
Ammon’s horn	UBERON:0001954	99.36	gold quality
right testis	UBERON:0004534	99.34	gold quality
left testis	UBERON:0004533	99.32	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	99.32	gold quality
primary visual cortex	UBERON:0002436	99.30	gold quality
Brodmann (1909) area 9	UBERON:0013540	99.29	gold quality
right frontal lobe	UBERON:0002810	99.28	gold quality
brain	UBERON:0000955	99.27	gold quality
cerebral cortex	UBERON:0000956	99.26	gold quality
anterior cingulate cortex	UBERON:0009835	99.25	gold quality
frontal cortex	UBERON:0001870	99.22	gold quality
mucosa of transverse colon	UBERON:0004991	99.22	gold quality
prefrontal cortex	UBERON:0000451	99.21	gold quality
left lobe of thyroid gland	UBERON:0001120	99.17	gold quality
left ovary	UBERON:0002119	99.17	gold quality
cerebellar cortex	UBERON:0002129	99.16	gold quality
cerebellar hemisphere	UBERON:0002245	99.16	gold quality

Single-cell (SCXA)

Detected in 15 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-ENAD-17	yes	562.31
E-CURD-122	yes	42.70
E-CURD-88	yes	38.71
E-MTAB-8410	yes	25.26
E-MTAB-7316	yes	22.81
E-MTAB-10042	yes	15.49
E-GEOD-135922	yes	13.29
E-MTAB-10596	no	1934.66
E-CURD-89	no	1168.53
E-CURD-85	no	1096.74
E-MTAB-7303	no	784.29
E-MTAB-7008	no	699.52
E-HCAD-4	no	106.74
E-HCAD-1	no	38.57
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting TMA7, 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-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-561-3P	99.64	70.90	3647
HSA-MIR-6715B-5P	99.64	69.63	1420
HSA-MIR-7150	99.62	66.80	1322
HSA-MIR-4269	99.55	69.89	1373
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-5683	99.36	68.59	2083
HSA-MIR-3606-5P	99.31	69.67	1168
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-4279	99.19	66.70	2437
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-4252	98.45	66.37	987
HSA-MIR-1245B-3P	98.01	68.91	1387
HSA-MIR-4303	98.01	68.13	2304
HSA-MIR-4736	97.96	65.89	1287

Literature-anchored findings (GeneRIF, showing 3)

• Expression of gene HSPCO16 resulted in the apoptosis of these cells, which suggested that the apoptosis of dermal papilla cells might be associated with the expression of gene HSPC016 in vitro. (PMID:15740594)
• HSPC016 was was differentially expressed in dermal papilla cells with aggregative behavior. (PMID:16096800)
• Dermal papillae cells (DPC) lose aggregate behavior and grow much slower after HSPC016 gene inhibition. Recombinant HSPC016 protein promoted the proliferation of high-passage DPC and induced aggregative behaviour. (PMID:22571579)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Tma7	ENSMUSG00000091537
rattus_norvegicus	Tma7	ENSRNOG00000047225

Paralogs (1): TMA7B (ENSG00000225528)

Protein

Protein identifiers

Translation machinery-associated protein 7 — Q9Y2S6 (reviewed: Q9Y2S6)

Alternative names: Coiled-coil domain-containing protein 72

All UniProt accessions (1): Q9Y2S6

UniProt curated annotations — full annotation on UniProt →

Tissue specificity. Expressed in dermal papilla cells with aggregative behavior.

Similarity. Belongs to the TMA7 family.

RefSeq proteins (2): NP_001316346, NP_057017* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR015157	TMA7	Family

Pfam: PF09072

UniProt features (5 total): chain 1, region of interest 1, coiled-coil region 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2S6-F1	71.53	0.09

Functional residue map

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

Post-translational modifications (1): 61

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 117 (showing top): STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, TIEN_INTESTINE_PROBIOTICS_24HR_UP, RYTTCCTG_ETS2_B, MODULE_48, MODULE_95, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_UP, YOSHIMURA_MAPK8_TARGETS_UP, NFY_Q6_01, PECE_MAMMARY_STEM_CELL_UP, MODULE_163, chr3p21, CEBPZ_TARGET_GENES, FEV_TARGET_GENES, HHEX_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

1061 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMA7	GNL2	Q13823	421
TMA7	ZNF226	Q9NYT6	418
TMA7	CCDC7	Q96M83	402
TMA7	CCDC51	Q96ER9	398
TMA7	CYB5D2	Q8WUJ1	386
TMA7	KRTAP11-1	Q8IUC1	348
TMA7	KRTAP3-1	Q9BYR8	327
TMA7	SPCS2	Q15005	310
TMA7	SNRPF	P62306	292
TMA7	NUDC	Q9Y266	285
TMA7	PALM2AKAP2	Q9Y2D5	273
TMA7	FGFR1OP2	Q9NVK5	272
TMA7	RAB2B	Q8WUD1	271
TMA7	GMFG	O60234	269
TMA7	PALD1	Q9ULE6	247
TMA7	MAN1A2	O60476	247

IntAct

23 interactions, top by confidence:

A	B	Type	Score
APOOL	MTX2	psi-mi:“MI:0914”(association)	0.530
P/V	HSPA4L	psi-mi:“MI:0914”(association)	0.530
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
TMA7	SMYD3	psi-mi:“MI:0915”(physical association)	0.400
TMA7	H2BC21	psi-mi:“MI:0915”(physical association)	0.400
TMA7	H2BC15	psi-mi:“MI:0915”(physical association)	0.400
TMA7	H2BC14	psi-mi:“MI:0915”(physical association)	0.400
TMA7	HNRNPA1L2	psi-mi:“MI:0915”(physical association)	0.400
ERBB2	TMA7	psi-mi:“MI:0915”(physical association)	0.370
ERBB3	TMA7	psi-mi:“MI:0915”(physical association)	0.370
ERBB4	TMA7	psi-mi:“MI:0915”(physical association)	0.370
MAPT	C11orf98	psi-mi:“MI:0914”(association)	0.350
MAPT	POTEF	psi-mi:“MI:0914”(association)	0.350
APP	ESYT2	psi-mi:“MI:0914”(association)	0.350
APOOL	ALDH1L1	psi-mi:“MI:0914”(association)	0.350
FYN	MRPS12	psi-mi:“MI:0914”(association)	0.350
TAGLN	LOC392647	psi-mi:“MI:0914”(association)	0.350
PAK4	MCM5	psi-mi:“MI:0914”(association)	0.350
MAPT	SHTN1	psi-mi:“MI:0914”(association)	0.350
	EBAG9	psi-mi:“MI:0914”(association)	0.350

BioGRID (59): NFATC2IP (Co-fractionation), TMA7 (Two-hybrid), TMA7 (Affinity Capture-MS), TMA7 (Affinity Capture-RNA), TMA7 (Proximity Label-MS), TMA7 (Affinity Capture-MS), TMA7 (Protein-RNA), TMA7 (Affinity Capture-MS), TMA7 (Affinity Capture-MS), TMA7 (Two-hybrid), TMA7 (Two-hybrid), TMA7 (Two-hybrid), TMA7 (Proximity Label-MS), TMA7 (Proximity Label-MS), TMA7 (Proximity Label-MS)

ESM2 similar proteins: A0A024R1R8, A1A4Q4, A1CMP1, A2R091, A3N0X3, A5DF06, A6R5Z3, A6S6B0, A6ZWL1, A7F9B8, B0BPQ7, B3GXV7, H3BMG3, O31573, P25886, P47915, Q02642, Q05AK9, Q05AX4, Q06DK3, Q0ULD0, Q13442, Q1DI23, Q1HRV4, Q20588, Q28GR1, Q32KU9, Q32LJ0, Q3E764, Q3UHX2, Q4KLG3, Q4P9Y9, Q4SUE2, Q55F75, Q5ASI4, Q5RCI9, Q60QR6, Q62785, Q66654, Q6C2F3

Diamond homologs: A0A024R1R8, A1A4Q4, Q05AK9, Q06DK3, Q1HRV4, Q20588, Q28GR1, Q3E764, Q4SUE2, Q60QR6, Q7PNC0, Q8K003, Q9XZS3, Q9Y2S6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 28 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Amyloid fiber formation	5	24.5×	1e-04
Estrogen-dependent gene expression	6	21.6×	5e-05

GO biological processes:

GO term	Partners	Fold	FDR
nucleosome assembly	5	28.1×	3e-04

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	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

274 predictions. Top by Δscore:

Variant	Effect	Δscore
3:48440310:AAGGT:A	donor_loss	1.0000
3:48440311:AGGT:A	donor_loss	1.0000
3:48440312:GGTA:G	donor_loss	1.0000
3:48440313:G:GG	donor_gain	1.0000
3:48440313:GTAA:G	donor_loss	1.0000
3:48440314:T:G	donor_loss	1.0000
3:48440455:CGAGG:C	donor_loss	1.0000
3:48440456:GAGGT:G	donor_loss	1.0000
3:48440457:AGG:A	donor_loss	1.0000
3:48440459:GTG:G	donor_loss	1.0000
3:48440460:T:G	donor_loss	1.0000
3:48440535:CCCCA:C	acceptor_loss	1.0000
3:48440536:CCCAG:C	acceptor_loss	1.0000
3:48440538:CAGGA:C	acceptor_loss	1.0000
3:48440539:A:AG	acceptor_gain	1.0000
3:48440540:G:GG	acceptor_gain	1.0000
3:48440540:G:T	acceptor_loss	1.0000
3:48440540:GGAA:G	acceptor_gain	1.0000
3:48443846:A:AG	acceptor_gain	1.0000
3:48443847:G:GG	acceptor_gain	1.0000
3:48440309:GAAG:G	donor_gain	0.9900
3:48440311:AG:A	donor_gain	0.9900
3:48440312:GG:G	donor_gain	0.9900
3:48440397:CCACA:C	acceptor_loss	0.9900
3:48440398:CACAG:C	acceptor_loss	0.9900
3:48440399:ACAG:A	acceptor_loss	0.9900
3:48440400:CA:C	acceptor_loss	0.9900
3:48440401:A:AC	acceptor_loss	0.9900
3:48440402:G:GT	acceptor_loss	0.9900
3:48440456:GAG:G	donor_gain	0.9900

AlphaMissense

418 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:48440596:T:C	L43P	0.995
3:48440620:G:A	G51E	0.995
3:48440425:A:C	K13N	0.994
3:48440425:A:T	K13N	0.994
3:48443864:G:C	K59N	0.994
3:48443864:G:T	K59N	0.994
3:48440423:A:G	K13E	0.992
3:48440608:C:A	A47D	0.991
3:48443860:T:C	I58T	0.990
3:48440566:A:C	Q33P	0.989
3:48440587:T:C	L40P	0.989
3:48440619:G:T	G51W	0.989
3:48443857:G:A	G57E	0.989
3:48443862:A:G	K59E	0.987
3:48443867:A:C	K60N	0.987
3:48443867:A:T	K60N	0.987
3:48440312:G:C	G6R	0.986
3:48440619:G:A	G51R	0.986
3:48440619:G:C	G51R	0.986
3:48443865:A:G	K60E	0.986
3:48440424:A:T	K13I	0.985
3:48440434:G:C	K16N	0.985
3:48440434:G:T	K16N	0.985
3:48440405:G:C	G7R	0.984
3:48440410:G:C	K8N	0.983
3:48440410:G:T	K8N	0.983
3:48443856:G:A	G57R	0.982
3:48443856:G:C	G57R	0.982
3:48443860:T:A	I58N	0.982
3:48440414:A:G	K10E	0.981

dbSNP variants (sampled 300 via entrez): RS1000260863 (3:48441221 T>C), RS1000335407 (3:48441432 C>T), RS1000591725 (3:48442585 G>A,T), RS1000666637 (3:48442715 G>C), RS1001453941 (3:48438988 C>T), RS1001941670 (3:48443348 G>C), RS1002334913 (3:48443957 C>G,T), RS1002381045 (3:48442991 G>C,T), RS1002822262 (3:48440054 G>A), RS1002898463 (3:48438696 G>A), RS1003227292 (3:48441101 C>T), RS1003306412 (3:48440223 C>T), RS1003358798 (3:48441938 A>G), RS1004180141 (3:48444439 A>T), RS1004296182 (3:48444200 T>C)

Disease associations

OMIM: gene MIM:615808 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST004131_23	Inflammatory bowel disease	1.000000e-33
GCST004132_17	Crohn’s disease	3.000000e-23
GCST004133_11	Ulcerative colitis	8.000000e-20
GCST006943_32	Feeling miserable	2.000000e-08
GCST010698_80	Subcortical volume (min-P)	3.000000e-24
GCST010699_110	Brain morphology (min-P)	4.000000e-08
GCST010701_52	Cortical surface area (MOSTest)	1.000000e-16
GCST010702_36	Subcortical volume (MOSTest)	1.000000e-10
GCST010703_262	Brain morphology (MOSTest)	2.000000e-13

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0009598	feeling miserable measurement
EFO:0004346	neuroimaging measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases abundance, increases expression	4
bisphenol A	affects expression, decreases expression	3
triphenyl phosphate	affects expression	1
tetrahydropalmatine	decreases expression	1
arsenite	affects binding, increases reaction	1
perfluorooctanoic acid	decreases expression	1
bleomycetin	decreases expression	1
potassium chromate(VI)	decreases expression	1
nickel sulfate	decreases expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	decreases expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
LDN 193189	affects cotreatment, decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Doxorubicin	affects expression	1
Hydralazine	affects cotreatment, increases expression	1
Ivermectin	decreases expression	1
Ribonucleotides	affects binding	1
Selenium	decreases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Valproic Acid	affects cotreatment, increases expression	1
Asbestos, Crocidolite	increases expression	1
Sodium Selenite	increases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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