CDRT15L2

Summary

CDRT15L2 (CMT1A duplicated region transcript 15 like 2, HGNC:34075) is a protein-coding gene on chromosome 17p11.2, encoding CMT1A duplicated region transcript 15 protein-like protein (A8MXV6).

Predicted to be located in membrane.

Source: NCBI Gene 256223 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 60 total
• MANE Select transcript: NM_001190790

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34075
Approved symbol	CDRT15L2
Name	CMT1A duplicated region transcript 15 like 2
Location	17p11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000214819
Ensembl biotype	protein_coding
Entrez	256223

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000399044, ENST00000661883

RefSeq mRNA: 1 — MANE Select: NM_001190790 NM_001190790

CCDS: CCDS54096

Canonical transcript exons

ENST00000399044 — 2 exons

Exon	Start	End
ENSE00000946219	20579724	20580008
ENSE00000946220	20580149	20580911

Expression profiles

Bgee: expression breadth broad, 42 present calls, max score 86.04.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	86.04	silver quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.74	silver quality
left testis	UBERON:0004533	81.83	gold quality
right testis	UBERON:0004534	81.57	gold quality
testis	UBERON:0000473	78.59	gold quality
cardiac muscle of right atrium	UBERON:0003379	73.33	gold quality
left ventricle myocardium	UBERON:0006566	73.29	gold quality
myocardium	UBERON:0002349	73.08	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	66.41	gold quality
upper arm skin	UBERON:0004263	64.57	gold quality
kidney epithelium	UBERON:0004819	63.70	gold quality
endothelial cell	CL:0000115	63.00	gold quality
epithelial cell of pancreas	CL:0000083	62.32	gold quality
vena cava	UBERON:0004087	60.75	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	59.16	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	58.57	gold quality
quadriceps femoris	UBERON:0001377	58.05	gold quality
vastus lateralis	UBERON:0001379	57.07	gold quality
cerebellar vermis	UBERON:0004720	56.59	gold quality
deltoid	UBERON:0001476	56.49	gold quality
middle temporal gyrus	UBERON:0002771	56.19	gold quality
biceps brachii	UBERON:0001507	56.17	gold quality
pancreatic ductal cell	CL:0002079	55.84	silver quality
heart right ventricle	UBERON:0002080	55.73	gold quality
trabecular bone tissue	UBERON:0002483	55.17	gold quality
Ammon’s horn	UBERON:0001954	54.86	gold quality
ileal mucosa	UBERON:0000331	54.59	silver quality
nasal cavity epithelium	UBERON:0005384	54.47	gold quality
pons	UBERON:0000988	54.41	gold quality
esophagus squamous epithelium	UBERON:0006920	54.06	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.82

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

8 targeting CDRT15L2, 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-6876-3P	98.97	65.69	765
HSA-MIR-626	98.89	66.21	762
HSA-MIR-4436B-3P	98.25	65.26	1494
HSA-MIR-6735-5P	98.24	65.36	1488
HSA-MIR-7843-5P	98.12	65.26	1421
HSA-MIR-4632-5P	97.82	65.38	1470
HSA-MIR-6879-5P	97.77	65.52	1521
HSA-MIR-3622B-5P	94.62	64.58	835

Cross-species orthologs

0 orthologs

Paralogs (1): CDRT15 (ENSG00000223510)

Protein

Protein identifiers

CMT1A duplicated region transcript 15 protein-like protein — A8MXV6 (reviewed: A8MXV6)

All UniProt accessions (2): A0A590UJC2, A8MXV6

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001177719* (*=MANE)

Domains & families (InterPro)

UniProt features (6 total): region of interest 2, compositionally biased region 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MXV6-F1	54.59	0.07

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 2 (showing top): GSE18791_CTRL_VS_NEWCASTLE_VIRUS_DC_2H_DN, chr17p11

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

124 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CDRT15L2	TBC1D28	Q2M2D7	621
CDRT15L2	SLC35G6	P0C7Q6	604
CDRT15L2	SLC35G3	Q8N808	603
CDRT15L2	CCDC144A	A2RUR9	599
CDRT15L2	SPDYE4	A6NLX3	591
CDRT15L2	OR3A2	P47893	590
CDRT15L2	CHCT1	Q86WR6	583
CDRT15L2	TBC1D26	Q86UD7	582
CDRT15L2	TBC1D3G	Q6DHY5	580
CDRT15L2	LRRC3C	A6NJW4	572
CDRT15L2	TMEM95	Q3KNT9	571
CDRT15L2	FBXW10B	O95170	571
CDRT15L2	A0A087WT91	A0A087WT91	570
CDRT15L2	TBC1D3B	A6NDS4	570
CDRT15L2	MFSD6L	Q8IWD5	542

IntAct

3 interactions, top by confidence:

A	B	Type	Score
CDRT15	CDRT15L2	psi-mi:“MI:0914”(association)	0.530

BioGRID (3): CDRT15L2 (Affinity Capture-MS), CDRT15L2 (Affinity Capture-MS), CDRT15L2 (Affinity Capture-MS)

ESM2 similar proteins: A0A0U1RRK4, A0A1B0GVZ6, A0A1W2PPE3, A0A1W2PR82, A0A2R8Y2Y2, A0A2Z4LIS9, A0A494C0N9, A0A494C0Y3, A5A752, A5PKC7, A6NDZ8, A6NE82, A6NEL2, A6NJ08, A6NJI1, A6QP24, A6QPM6, A8MTW9, A8MXV6, A8MYA2, B1ARW8, O35182, O43541, O75474, O75638, O89113, O94850, P0C7X2, P24097, P50617, P70339, Q02080, Q2KID8, Q2KIS6, Q3UN58, Q5JPB2, Q63003, Q6NZ36, Q6UYE1, Q6ZSJ8

Diamond homologs: A8MXV6, Q96T59, P0DPF6, Q8IZJ4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	56
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

122 predictions. Top by Δscore:

Variant	Effect	Δscore
17:20579796:G:GT	donor_gain	0.9900
17:20580006:ATGGT:A	donor_loss	0.9900
17:20580007:TGG:T	donor_loss	0.9900
17:20580008:GGTGA:G	donor_loss	0.9900
17:20580009:GTG:G	donor_loss	0.9900
17:20580010:T:G	donor_loss	0.9900
17:20580147:A:AG	acceptor_gain	0.9900
17:20580147:A:G	acceptor_loss	0.9900
17:20580148:G:GC	acceptor_gain	0.9900
17:20580148:GCTC:G	acceptor_gain	0.9900
17:20579972:G:GT	donor_gain	0.9800
17:20580148:GCT:G	acceptor_gain	0.9800
17:20580148:GCTCC:G	acceptor_gain	0.9800
17:20580028:G:GT	donor_gain	0.9700
17:20580148:GC:G	acceptor_gain	0.9700
17:20580009:G:GG	donor_gain	0.9500
17:20579864:G:GG	donor_gain	0.9400
17:20580145:TCAG:T	acceptor_gain	0.9400
17:20580146:CAGCT:C	acceptor_gain	0.9400
17:20579993:G:GT	donor_gain	0.9300
17:20580011:G:GT	donor_gain	0.9200
17:20580144:TTCAG:T	acceptor_gain	0.9200
17:20580147:A:C	acceptor_gain	0.9100
17:20580148:G:T	acceptor_gain	0.8900
17:20579997:C:T	donor_gain	0.8800
17:20580011:G:GG	donor_loss	0.8600
17:20579795:GGGA:G	donor_gain	0.8500
17:20579869:A:T	donor_gain	0.8200
17:20580015:T:TA	donor_gain	0.8200
17:20580016:G:GA	donor_gain	0.8200

AlphaMissense

1785 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:20579747:T:C	F2L	0.937
17:20579749:C:A	F2L	0.937
17:20579749:C:G	F2L	0.937
17:20579783:T:C	F14L	0.932
17:20579785:C:A	F14L	0.932
17:20579785:C:G	F14L	0.932
17:20579810:T:C	F23L	0.911
17:20579812:C:A	F23L	0.911
17:20579812:C:G	F23L	0.911
17:20580694:T:C	F271L	0.910
17:20580696:T:A	F271L	0.910
17:20580696:T:G	F271L	0.910
17:20579759:T:C	F6L	0.853
17:20579761:C:A	F6L	0.853
17:20579761:C:G	F6L	0.853
17:20580499:T:C	F206L	0.845
17:20580501:C:A	F206L	0.845
17:20580501:C:G	F206L	0.845
17:20579861:T:C	F40L	0.843
17:20579863:T:A	F40L	0.843
17:20579863:T:G	F40L	0.843
17:20579835:T:C	I31T	0.807
17:20580556:G:A	G225R	0.789
17:20580556:G:C	G225R	0.789
17:20579748:T:G	F2C	0.775
17:20580681:G:C	W266C	0.751
17:20580681:G:T	W266C	0.751
17:20579748:T:C	F2S	0.737
17:20580594:A:C	K237N	0.722
17:20580594:A:T	K237N	0.722

dbSNP variants (sampled 300 via entrez): RS1000880775 (17:20579452 T>A), RS1000973427 (17:20579214 G>A), RS1001793683 (17:20578013 C>T), RS1002396590 (17:20579981 C>T), RS1003343407 (17:20581288 C>G), RS1003803596 (17:20580944 G>A,C), RS1004687434 (17:20578943 C>A), RS1005687292 (17:20580369 G>A,C,T), RS1005780498 (17:20580164 C>G), RS1007339568 (17:20580434 A>G), RS1009680745 (17:20579917 C>T), RS1009732542 (17:20579617 G>A), RS1010734407 (17:20580613 G>A,T), RS1012147891 (17:20581330 G>A,T), RS1012200318 (17:20581006 C>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

1 associations (top):

Study	Trait	p-value
GCST002929_8	Chromium levels	4.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

3 total (human), top 3 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
clothianidin	increases expression	1
p-Chloromercuribenzoic Acid	increases expression	1
Particulate Matter	increases expression	1

Clinical trials (associated diseases)

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