TMA7B

Summary

TMA7B (translation machinery associated 7 homolog B, HGNC:53893) is a protein-coding gene on chromosome 22q13.1, encoding Translation machinery-associated protein 7B (A0A024R1R8).

At a glance

• MANE Select transcript: NM_001396013

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53893
Approved symbol	TMA7B
Name	translation machinery associated 7 homolog B
Location	22q13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000225528
Ensembl biotype	protein_coding
Entrez	112268293

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000424496

RefSeq mRNA: 1 — MANE Select: NM_001396013 NM_001396013

CCDS: CCDS93168

Canonical transcript exons

ENST00000424496 — 2 exons

Exon	Start	End
ENSE00001646481	39960397	39960919
ENSE00001703815	39963920	39964905

Expression profiles

Bgee: expression breadth broad, 55 present calls, max score 84.90.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	84.90	gold quality
leukocyte	CL:0000738	84.19	gold quality
granulocyte	CL:0000094	74.04	gold quality
blood	UBERON:0000178	73.08	gold quality
bone marrow	UBERON:0002371	61.75	gold quality
bone marrow cell	CL:0002092	60.92	silver quality
right lung	UBERON:0002167	60.54	gold quality
lymph node	UBERON:0000029	59.80	gold quality
spleen	UBERON:0002106	55.80	gold quality
colonic epithelium	UBERON:0000397	53.99	gold quality
upper lobe of left lung	UBERON:0008952	52.52	gold quality
lung	UBERON:0002048	50.24	gold quality
tonsil	UBERON:0002372	49.97	gold quality
liver	UBERON:0002107	45.58	silver quality
vermiform appendix	UBERON:0001154	45.26	gold quality
smooth muscle tissue	UBERON:0001135	45.18	gold quality
ventricular zone	UBERON:0003053	44.35	silver quality
muscle tissue	UBERON:0002385	43.60	silver quality
right lobe of liver	UBERON:0001114	43.41	silver quality
sural nerve	UBERON:0015488	43.26	gold quality
skeletal muscle tissue	UBERON:0001134	41.88	gold quality
ganglionic eminence	UBERON:0004023	41.14	silver quality
gall bladder	UBERON:0002110	40.75	gold quality
lower esophagus mucosa	UBERON:0035834	40.27	silver quality
small intestine Peyer’s patch	UBERON:0003454	40.18	gold quality
small intestine	UBERON:0002108	40.11	gold quality
stromal cell of endometrium	CL:0002255	39.60	gold quality
prostate gland	UBERON:0002367	39.50	silver quality
urinary bladder	UBERON:0001255	39.20	gold quality
omental fat pad	UBERON:0010414	38.67	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.65
E-MTAB-7381	no	48.10

Regulation

Is transcription factor: no

Cross-species orthologs

0 orthologs

Paralogs (1): TMA7 (ENSG00000232112)

Protein

Protein identifiers

Translation machinery-associated protein 7B — A0A024R1R8 (reviewed: A0A024R1R8)

All UniProt accessions (1): A0A024R1R8

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the TMA7 family.

RefSeq proteins (1): NP_001382942* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR015157	TMA7	Family

Pfam: PF09072

UniProt features (3 total): chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A024R1R8-F1	73.94	0.23

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 7 (showing top): chr22q13, ZNF184_TARGET_GENES, ZNF589_TARGET_GENES, DESCARTES_FETAL_LUNG_MEGAKARYOCYTES, MEF2C_TARGET_GENES, ZNF584_TARGET_GENES, GENES_CORRELATED_WITH_BRAF_DELETION

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

78 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TMA7B	EIF6	P56537	154
TMA7B	PDCD5	O14737	115
TMA7B	RPL29	P47914	100
TMA7B	SNRPF	P62306	91
TMA7B	RPL39	P02404	91
TMA7B	RPL39L	Q96EH5	91
TMA7B	PFDN4	Q9NQP4	78
TMA7B	RPL38	P23411	51
TMA7B	RBX1	P62877	0
TMA7B	SF3B6	Q9Y3B4	0
TMA7B	ATP5F1E	P56381	0
TMA7B	NEDD8	Q15843	0
TMA7B	LSM7	Q9UK45	0
TMA7B	IER3IP1	Q9Y5U9	0
TMA7B	SUB1	P53999	0
TMA7B	NDUFS6	O75380	0
TMA7B	LSM6	P62312	0
TMA7B	TAF10	Q12962	0
TMA7B	SNRPD1	P13641	0
TMA7B	POLR1D	P0DPB6	0
TMA7B	POLR2L	P52436	0
TMA7B	NOP10	Q9NPE3	0

IntAct

0 interactions, top by confidence:

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.

Disease & clinical

Clinical variants and AI predictions

ClinVar

0 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

95 predictions. Top by Δscore:

Variant	Effect	Δscore
22:39964514:T:TA	donor_gain	0.9600
22:39964341:AGTGG:A	acceptor_gain	0.9500
22:39964340:CAGTG:C	acceptor_gain	0.9200
22:39964342:G:T	acceptor_gain	0.9000
22:39964515:C:CA	donor_gain	0.8700
22:39964501:C:CG	donor_gain	0.7800
22:39964499:TGCTA:T	donor_gain	0.7200
22:39964266:T:TA	acceptor_gain	0.7100
22:39964237:AG:A	acceptor_gain	0.7000
22:39964344:G:T	acceptor_gain	0.7000
22:39964338:TCCAG:T	acceptor_gain	0.6900
22:39964498:GTGC:G	donor_gain	0.6900
22:39964339:CCAG:C	acceptor_gain	0.6800
22:39964513:G:GT	donor_gain	0.6700
22:39964543:G:GA	donor_gain	0.6600
22:39964337:G:T	acceptor_gain	0.6300
22:39964500:G:A	donor_gain	0.6300
22:39964542:TGG:T	donor_gain	0.6300
22:39960597:T:G	acceptor_gain	0.5400
22:39964338:T:TT	acceptor_gain	0.5400
22:39964291:TGAG:T	acceptor_gain	0.5300
22:39960822:A:T	donor_gain	0.5200
22:39960597:T:TA	acceptor_gain	0.5000
22:39963383:AAAGG:A	donor_gain	0.5000
22:39964262:GCCCT:G	acceptor_gain	0.5000
22:39964336:C:CT	acceptor_gain	0.5000
22:39964516:G:GG	donor_gain	0.4900
22:39964521:G:T	donor_gain	0.4900
22:39963663:A:G	donor_gain	0.4800
22:39964502:T:G	donor_gain	0.4800

AlphaMissense

419 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:39964459:T:C	F29L	0.604
22:39964461:C:A	F29L	0.604
22:39964461:C:G	F29L	0.604
22:39964551:G:C	K59N	0.565
22:39964551:G:T	K59N	0.565

dbSNP variants (sampled 300 via entrez): RS1000411707 (22:39962084 A>G), RS1000865339 (22:39960303 G>A,C), RS1001016094 (22:39959674 C>G), RS1001066817 (22:39959410 T>C), RS1001135835 (22:39960002 C>G,T), RS1001264087 (22:39965089 A>G), RS1001364267 (22:39964780 T>C), RS1002420738 (22:39959180 A>G), RS1003261547 (22:39962393 C>G), RS1003422910 (22:39961710 A>G), RS1003473964 (22:39961414 T>C), RS1005024937 (22:39961861 G>A), RS1005155916 (22:39963771 A>G), RS1005688034 (22:39964304 G>A,T), RS1005974326 (22:39963304 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)

Clinical trials (associated diseases)

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