TLCD5

Summary

TLCD5 (TLC domain containing 5, HGNC:28280) is a protein-coding gene on chromosome 11q23.3, encoding TLC domain-containing protein 5 (Q6ZRR5).

Predicted to be located in membrane.

Source: NCBI Gene 219902 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 37 total
• MANE Select transcript: NM_001198671

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28280
Approved symbol	TLCD5
Name	TLC domain containing 5
Location	11q23.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC17839
Ensembl gene	ENSG00000181264
Ensembl biotype	protein_coding
Entrez	219902

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 11 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000314475, ENST00000375095, ENST00000524680, ENST00000529187, ENST00000531346, ENST00000851639, ENST00000851640, ENST00000851641, ENST00000940096, ENST00000944038, ENST00000944039, ENST00000944040, ENST00000944041

RefSeq mRNA: 7 — MANE Select: NM_001198671 NM_001198670, NM_001198671, NM_001198672, NM_001198673, NM_001198674, NM_001198675, NM_174926

CCDS: CCDS55792, CCDS55793, CCDS8432

Canonical transcript exons

ENST00000375095 — 3 exons

Exon	Start	End
ENSE00001676008	120327441	120327640
ENSE00001804913	120325299	120325368
ENSE00003525892	120329977	120333686

Expression profiles

Bgee: expression breadth ubiquitous, 214 present calls, max score 90.78.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.4357 / max 54.2742, expressed in 1547 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
117151	10.4357	1547

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	90.78	gold quality
adrenal tissue	UBERON:0018303	87.91	gold quality
medial globus pallidus	UBERON:0002477	86.77	gold quality
buccal mucosa cell	CL:0002336	85.94	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	85.80	gold quality
spinal cord	UBERON:0002240	85.48	gold quality
globus pallidus	UBERON:0001875	85.47	gold quality
left adrenal gland cortex	UBERON:0035825	85.41	gold quality
left adrenal gland	UBERON:0001234	85.30	gold quality
right adrenal gland	UBERON:0001233	85.24	gold quality
right adrenal gland cortex	UBERON:0035827	85.17	gold quality
adrenal cortex	UBERON:0001235	84.71	gold quality
inferior vagus X ganglion	UBERON:0005363	84.59	gold quality
putamen	UBERON:0001874	84.51	gold quality
right atrium auricular region	UBERON:0006631	84.45	gold quality
cardiac atrium	UBERON:0002081	84.29	gold quality
adrenal gland	UBERON:0002369	84.27	gold quality
cortical plate	UBERON:0005343	84.20	gold quality
substantia nigra	UBERON:0002038	83.98	gold quality
cardiac muscle of right atrium	UBERON:0003379	83.77	silver quality
caudate nucleus	UBERON:0001873	83.75	gold quality
amygdala	UBERON:0001876	83.50	gold quality
midbrain	UBERON:0001891	83.27	gold quality
left ventricle myocardium	UBERON:0006566	83.22	silver quality
nucleus accumbens	UBERON:0001882	83.14	gold quality
ventricular zone	UBERON:0003053	82.87	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.82	gold quality
corpus callosum	UBERON:0002336	82.73	gold quality
embryo	UBERON:0000922	82.67	gold quality
ganglionic eminence	UBERON:0004023	82.67	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.08

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

103 targeting TLCD5, 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-3163	100.00	77.23	8605
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-19A-3P	99.98	75.33	2762
HSA-MIR-19B-3P	99.98	75.44	2754
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-1229-3P	99.97	66.49	906
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-3682-5P	99.93	67.97	1163
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-3681-3P	99.88	70.46	2254
HSA-MIR-12119	99.87	68.35	1653
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-4779	99.86	66.50	1583

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	tlcd5a	ENSDARG00000024920
danio_rerio	tlcd5b	ENSDARG00000035163
mus_musculus	Tlcd5	ENSMUSG00000048503
rattus_norvegicus	Tlcd5	ENSRNOG00000021793

Protein

Protein identifiers

TLC domain-containing protein 5 — Q6ZRR5 (reviewed: Q6ZRR5)

Alternative names: Transmembrane protein 136

All UniProt accessions (1): Q6ZRR5

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

Similarity. Belongs to the TLCD5 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q6ZRR5-1	1	yes
Q6ZRR5-2	2
Q6ZRR5-3	3
Q6ZRR5-4	4

RefSeq proteins (7): NP_001185599, NP_001185600, NP_001185601, NP_001185602, NP_001185603, NP_001185604, NP_777586 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006634	TLC-dom	Domain
IPR042512	TLCD5	Family

UniProt features (12 total): transmembrane region 6, sequence conflict 2, splice variant 2, chain 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6ZRR5-F1	94.55	0.91

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 68 (showing top): TGACCTY_ERR1_Q2, PATIL_LIVER_CANCER, BRN2_01, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, RYTTCCTG_ETS2_B, AML1_01, CTAWWWATA_RSRFC4_Q2, TGACCTTG_SF1_Q6, BERTUCCI_INVASIVE_CARCINOMA_DUCTAL_VS_LOBULAR_UP, GEORGES_TARGETS_OF_MIR192_AND_MIR215, STAT5A_02, TCANNTGAY_SREBP1_01, TST1_01, MMEF2_Q6, LEE_BMP2_TARGETS_UP

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

318 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TLCD5	RBMS3	Q6XE24	676
TLCD5	AGPAT1	Q99943	587
TLCD5	POMP	Q9Y244	540
TLCD5	ARHGEF12	Q9NZN5	513
TLCD5	C5orf52	A6NGY3	507
TLCD5	OR11L1	Q8NGX0	505
TLCD5	SEMA6A	Q9H2E6	490
TLCD5	LOXL1	Q08397	489
TLCD5	CFAP97D1	B2RV13	475
TLCD5	TTLL10	Q6ZVT0	449
TLCD5	CACNA1A	P78510	446
TLCD5	SSH3	Q8TE77	424
TLCD5	TNIK	Q9UKE5	423
TLCD5	SORBS2	O94875	411
TLCD5	ZMIZ1	Q9ULJ6	395

IntAct

2 interactions, top by confidence:

A	B	Type	Score
TLCD5	TOM1L1	psi-mi:“MI:0914”(association)	0.350

BioGRID (21): TMEM136 (Synthetic Lethality), CANT1 (Affinity Capture-MS), RABGEF1 (Affinity Capture-MS), HERC1 (Affinity Capture-MS), GOPC (Affinity Capture-MS), SLC6A8 (Affinity Capture-MS), CXCR4 (Affinity Capture-MS), NDRG3 (Affinity Capture-MS), UBE3A (Affinity Capture-MS), ANKRD13D (Affinity Capture-MS), ATXN3 (Affinity Capture-MS), CYHR1 (Affinity Capture-MS), TMED8 (Affinity Capture-MS), RABAC1 (Affinity Capture-MS), TOM1L1 (Affinity Capture-MS)

ESM2 similar proteins: A2AKM2, A2AWR3, A8MR93, A8WGS4, D4A612, F1NZP5, G5EF48, O13752, O70536, P47153, Q0P5C7, Q0VD42, Q1A3B0, Q1LXV8, Q32NI8, Q3TYE7, Q4R516, Q500W7, Q57X51, Q5M8U1, Q5ND56, Q5RFL5, Q5U2T1, Q5XIY2, Q60457, Q6GLX2, Q6GNB5, Q6P4N1, Q6PGS5, Q6YWS8, Q6ZRR5, Q84QC0, Q8BHI7, Q8CGF5, Q8GYK7, Q8IU89, Q8K2C9, Q8N609, Q8QZR0, Q96CP7

Diamond homologs: Q0VD42, Q1LXV8, Q3TYE7, Q6ZRR5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	35
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

569 predictions. Top by Δscore:

Variant	Effect	Δscore
11:120330099:T:G	donor_gain	0.9900
11:120330099:T:TG	donor_gain	0.9900
11:120325366:CAG:C	donor_loss	0.9800
11:120325367:AG:A	donor_loss	0.9800
11:120325368:GGTA:G	donor_loss	0.9800
11:120325369:GTAAC:G	donor_loss	0.9800
11:120325370:T:A	donor_loss	0.9800
11:120325810:G:GT	donor_gain	0.9800
11:120326410:G:T	donor_gain	0.9800
11:120327638:CAG:C	donor_loss	0.9800
11:120327639:AGG:A	donor_loss	0.9800
11:120327640:GG:G	donor_loss	0.9800
11:120327641:G:GA	donor_loss	0.9800
11:120327642:T:A	donor_loss	0.9800
11:120330172:G:GT	donor_gain	0.9800
11:120327424:T:TA	acceptor_gain	0.9700
11:120325831:T:G	donor_gain	0.9600
11:120326410:G:GT	donor_gain	0.9600
11:120327418:T:A	acceptor_gain	0.9600
11:120326438:A:G	donor_gain	0.9400
11:120326464:GT:G	donor_gain	0.9400
11:120326465:TT:T	donor_gain	0.9400
11:120327313:GAAAA:G	donor_gain	0.9300
11:120327322:A:G	donor_gain	0.9300
11:120327439:A:AG	acceptor_gain	0.9300
11:120327440:G:GG	acceptor_gain	0.9300
11:120327638:CAGGT:C	donor_gain	0.9300
11:120327639:AGGTA:A	donor_gain	0.9300
11:120325811:G:T	donor_gain	0.9200
11:120327308:A:G	donor_gain	0.9200

AlphaMissense

1612 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:120330102:A:C	S109R	0.997
11:120330104:T:A	S109R	0.997
11:120330104:T:G	S109R	0.997
11:120330279:T:C	F168L	0.997
11:120330281:C:A	F168L	0.997
11:120330281:C:G	F168L	0.997
11:120330090:C:G	H105D	0.996
11:120330292:G:C	R172T	0.995
11:120330040:A:T	D88V	0.994
11:120330267:T:C	F164L	0.994
11:120330269:T:A	F164L	0.994
11:120330269:T:G	F164L	0.994
11:120330040:A:C	D88A	0.993
11:120330174:A:C	S133R	0.993
11:120330176:T:A	S133R	0.993
11:120330176:T:G	S133R	0.993
11:120330292:G:T	R172M	0.993
11:120330293:G:C	R172S	0.993
11:120330293:G:T	R172S	0.993
11:120330093:C:G	H106D	0.992
11:120330095:C:A	H106Q	0.992
11:120330095:C:G	H106Q	0.992
11:120330188:C:A	N137K	0.992
11:120330188:C:G	N137K	0.992
11:120330204:C:A	R143S	0.992
11:120330040:A:G	D88G	0.991
11:120330092:T:A	H105Q	0.991
11:120330092:T:G	H105Q	0.991
11:120330184:C:T	T136I	0.991
11:120327550:C:A	R37S	0.990

dbSNP variants (sampled 300 via entrez): RS1000265530 (11:120325318 C>A,T), RS1000670121 (11:120326095 A>G), RS1000866460 (11:120325759 C>A), RS1001335590 (11:120323437 C>T), RS1001532648 (11:120329724 A>C), RS1001640850 (11:120324355 T>C), RS1001830626 (11:120323704 C>A,T), RS1001881691 (11:120323983 C>G,T), RS1002056968 (11:120330032 C>A,G), RS1002339533 (11:120324911 A>G), RS1002541902 (11:120327219 A>C), RS1003232813 (11:120326979 A>G), RS1003333637 (11:120328447 T>G), RS1003822282 (11:120328499 G>A,C), RS1003866175 (11:120328833 A>T)

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

5 associations (top):

Study	Trait	p-value
GCST002767_3	Intraocular pressure	6.000000e-07
GCST010303_40	Nevus count or cutaneous melanoma	2.000000e-08
GCST010304_66	Cutaneous malignant melanoma	2.000000e-08
GCST010866_89	Coronary artery disease	3.000000e-08
GCST90011770_58	Glaucoma (primary open-angle)	1.000000e-24

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004695	intraocular pressure measurement
EFO:0004632	nevus count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	3
Nickel	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	decreases expression, increases methylation	2
trichostatin A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Temozolomide	increases expression	1
Decitabine	affects expression	1
Leflunomide	increases expression	1
Acetaminophen	increases expression	1
Air Pollutants	decreases expression	1
Arsenic	affects methylation	1
Cisplatin	affects expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Estradiol	decreases expression	1
Smoke	decreases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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