RMP64

Summary

RMP64 (ribonuclease MRP subunit p64, HGNC:24496) is a protein-coding gene on chromosome 3q13.2, encoding Ribonuclease MRP subunit P64 (Q6NW34). Specific component of the MRP ribonucleoprotein endoribonuclease, Rnase/Mrp complex, a ribonucleoprotein complex involved in pre-rRNA processing. It is a common-essential gene (DepMap: required in 98.3% of cancer cell lines).

Predicted to be involved in negative regulation of neuron differentiation and positive regulation of Notch signaling pathway. Predicted to be located in nucleolus. Predicted to be active in nucleus. Implicated in anauxetic dysplasia 3.

Source: NCBI Gene 25871 — RefSeq curated summary.

At a glance

• Gene–disease (curated): anauxetic dysplasia 3 (Strong, GenCC) — +1 more curated relationship
• Clinical variants (ClinVar): 34 total — 1 pathogenic
• Phenotypes (HPO): 36
• Cancer dependency (DepMap): dependent in 98.3% of screened cell lines (common-essential)
• MANE Select transcript: NM_015412

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24496
Approved symbol	RMP64
Name	ribonuclease MRP subunit p64
Location	3q13.2
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434F2021, NET17
Ensembl gene	ENSG00000163608
Ensembl biotype	protein_coding
OMIM	617089
Entrez	25871

Gene structure

Transcript identifiers

Ensembl transcripts: 30 — 14 nonsense_mediated_decay, 9 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined

ENST00000314400, ENST00000383675, ENST00000460410, ENST00000461381, ENST00000462295, ENST00000464816, ENST00000469169, ENST00000469809, ENST00000470663, ENST00000472166, ENST00000472637, ENST00000472705, ENST00000472762, ENST00000473284, ENST00000474311, ENST00000482229, ENST00000486271, ENST00000489848, ENST00000491121, ENST00000494164, ENST00000494575, ENST00000494891, ENST00000496206, ENST00000496340, ENST00000884628, ENST00000928021, ENST00000928022, ENST00000928023, ENST00000928024, ENST00000949568

RefSeq mRNA: 7 — MANE Select: NM_015412 NM_001319109, NM_001319110, NM_001319111, NM_001319112, NM_001319114, NM_001319115, NM_015412

CCDS: CCDS33824, CCDS82820

Canonical transcript exons

ENST00000314400 — 9 exons

Exon	Start	End
ENSE00001076503	113002444	113006004
ENSE00003515771	113013953	113014032
ENSE00003552467	113010643	113010704
ENSE00003559526	113011045	113011406
ENSE00003608708	113012734	113012811
ENSE00003622709	113013272	113013403
ENSE00003636459	113017448	113017602
ENSE00003646667	113019542	113019671
ENSE00003666128	113008171	113008430

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 98.44.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 29.5876 / max 165.9154, expressed in 1817 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
43826	26.2136	1815
43827	1.0266	789
43829	0.9139	608
43828	0.7185	440
43825	0.6111	330
43824	0.1039	35

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.44	gold quality
endothelial cell	CL:0000115	98.12	gold quality
parietal pleura	UBERON:0002400	96.16	gold quality
oviduct epithelium	UBERON:0004804	96.10	gold quality
tibialis anterior	UBERON:0001385	95.89	gold quality
visceral pleura	UBERON:0002401	95.50	gold quality
oocyte	CL:0000023	95.39	gold quality
germinal epithelium of ovary	UBERON:0001304	95.32	gold quality
epithelial cell of pancreas	CL:0000083	95.10	gold quality
epithelium of nasopharynx	UBERON:0001951	94.76	gold quality
nasopharynx	UBERON:0001728	94.74	gold quality
deltoid	UBERON:0001476	94.58	gold quality
calcaneal tendon	UBERON:0003701	94.53	gold quality
tibia	UBERON:0000979	94.38	gold quality
cartilage tissue	UBERON:0002418	94.21	gold quality
ileal mucosa	UBERON:0000331	94.09	gold quality
pancreatic ductal cell	CL:0002079	94.00	gold quality
Brodmann (1909) area 23	UBERON:0013554	93.34	gold quality
lymph node	UBERON:0000029	93.18	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	93.06	gold quality
palpebral conjunctiva	UBERON:0001812	93.04	gold quality
corpus epididymis	UBERON:0004359	92.93	gold quality
vermiform appendix	UBERON:0001154	92.82	gold quality
cardiac muscle of right atrium	UBERON:0003379	92.81	gold quality
tendon	UBERON:0000043	92.77	gold quality
body of pancreas	UBERON:0001150	92.66	gold quality
gall bladder	UBERON:0002110	92.61	gold quality
middle temporal gyrus	UBERON:0002771	92.54	gold quality
cauda epididymis	UBERON:0004360	92.54	gold quality
metanephros	UBERON:0000081	92.49	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

78 targeting RMP64, 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-6867-5P	100.00	82.21	3464
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-494-3P	99.70	71.45	2795
HSA-MIR-379-3P	99.69	69.60	1524
HSA-MIR-411-3P	99.69	69.63	1524
HSA-MIR-4470	99.66	69.35	1767
HSA-MIR-3202	99.66	67.70	2737
HSA-MIR-561-3P	99.64	70.90	3647

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.3% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 1)

• Our report delineates the clinical and radiological characteristics of an emerging ribosomopathy caused by biallelic variants in NEPRO (PMID:31250547)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	nepro	ENSDARG00000043566
mus_musculus	Nepro	ENSMUSG00000036208
rattus_norvegicus	Nepro	ENSRNOG00000013721

Protein

Protein identifiers

Ribonuclease MRP subunit P64 — Q6NW34 (reviewed: Q6NW34)

Alternative names: Nucleolus and neural progenitor protein

All UniProt accessions (7): C9J9E3, E9PFF8, Q6NW34, F2Z3E4, F8WBQ8, F8WC60, F8WDL7

UniProt curated annotations — full annotation on UniProt →

Function. Specific component of the MRP ribonucleoprotein endoribonuclease, Rnase/Mrp complex, a ribonucleoprotein complex involved in pre-rRNA processing. May play a role in cortex development as part of the Notch signaling pathway. Downstream of Notch may repress the expression of proneural genes and inhibit neuronal differentiation thereby maintaining neural progenitors. May also play a role in preimplentation embryo development.

Subunit / interactions. Component of RNase MRP complex which consists of a catalytic RNA moiety and at least 12 protein subunits; POP1, POP4, POP5, POP7, RPP14, RPP25, POP4, RPP30, RPP38, RPP40, RMP24 and RMP64. Many of these protein subunits are shared with the RNase P complex; however, RMP24 and RMP64 are specific to the RNase MRP complex and are absent in the RNase P complex.

Subcellular location. Nucleus. Nucleolus.

Disease relevance. Anauxetic dysplasia 3 (ANXD3) [MIM:618853] An autosomal recessive skeletal dysplasia characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility and dislocations, short metacarpals, broad middle phalanges, and metaphyseal irregularities. Most patients also exhibit motor and cognitive delays. The disease may be caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the RMP64 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q6NW34-1	1	yes
Q6NW34-2	2

RefSeq proteins (7): NP_001306038, NP_001306039, NP_001306040, NP_001306041, NP_001306043, NP_001306044, NP_056227* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR027951	Nepro_N	Domain
IPR052835	Nepro	Family

Pfam: PF14780

UniProt features (16 total): sequence variant 7, sequence conflict 3, region of interest 2, splice variant 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
9UH7	ELECTRON MICROSCOPY	2.84
9UH9	ELECTRON MICROSCOPY	3.47
9UHA	ELECTRON MICROSCOPY	3.93

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6NW34-F1	63.97	0.21

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): 265

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 207 (showing top): GOBP_NEGATIVE_REGULATION_OF_NEURON_DIFFERENTIATION, MODULE_255, GOBP_POSITIVE_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, MODULE_317, GOBP_NEUROGENESIS, GOBP_REGULATION_OF_NEURON_DIFFERENTIATION, GOBP_REGULATION_OF_NOTCH_SIGNALING_PATHWAY, SLEBOS_HEAD_AND_NECK_CANCER_WITH_HPV_UP, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, NOUZOVA_TRETINOIN_AND_H4_ACETYLATION, MODULE_69, GOCC_SNO_S_RNA_CONTAINING_RIBONUCLEOPROTEIN_COMPLEX, GOCC_NUCLEOLUS, GOCC_RIBONUCLEOPROTEIN_COMPLEX, HMGIY_Q6

GO Biological Process (3): RNA processing (GO:0006396), negative regulation of neuron differentiation (GO:0045665), positive regulation of Notch signaling pathway (GO:0045747)

GO Molecular Function (0):

GO Cellular Component (3): ribonuclease MRP complex (GO:0000172), nucleus (GO:0005634), nucleolus (GO:0005730)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
gene expression	1
RNA biosynthetic process	1
primary metabolic process	1
neuron differentiation	1
negative regulation of cell differentiation	1
regulation of neuron differentiation	1
Notch signaling pathway	1
regulation of Notch signaling pathway	1
positive regulation of signal transduction	1
sno(s)RNA-containing ribonucleoprotein complex	1
endoribonuclease complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

964 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RMP64	MAIP1	Q8WWC4	574
RMP64	GTPBP8	Q8N3Z3	573
RMP64	STOX2	Q9P2F5	521
RMP64	ARHGAP42	A6NI28	489
RMP64	PRSS56	P0CW18	489
RMP64	ASCL4	Q6XD76	478
RMP64	UVSSA	Q2YD98	460
RMP64	EIF2S2	P20042	436
RMP64	MEIOC	A2RUB1	425
RMP64	FBXO21	O94952	402
RMP64	AIRIM	Q9NX04	397
RMP64	WDR43	Q15061	391
RMP64	KATNIP	O60303	378
RMP64	FERRY3	Q9NQ89	369
RMP64	ATP6V1E2	Q96A05	368

IntAct

88 interactions, top by confidence:

A	B	Type	Score
RPP25	POP7	psi-mi:“MI:0914”(association)	0.810
SART3	PRPF4	psi-mi:“MI:0914”(association)	0.730
C18orf21	POP7	psi-mi:“MI:0914”(association)	0.640
NPM1	NVL	psi-mi:“MI:0914”(association)	0.610
MECP2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RPS3	ZNF316	psi-mi:“MI:0914”(association)	0.530
VSIG4	TCAF2	psi-mi:“MI:0914”(association)	0.530
ZNF512	ZNF724	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
RRP8	NVL	psi-mi:“MI:0914”(association)	0.530
RPL18A	RRP8	psi-mi:“MI:0914”(association)	0.530
POP7	RPP40	psi-mi:“MI:0914”(association)	0.530
RPP25L	RPP40	psi-mi:“MI:0914”(association)	0.530
C18orf21	RPP40	psi-mi:“MI:0914”(association)	0.530
RPP30	RPP38	psi-mi:“MI:0914”(association)	0.530
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
NPM1	WDR46	psi-mi:“MI:0914”(association)	0.480
NEPRO	MANF	psi-mi:“MI:0915”(physical association)	0.400
PB1	IPO5	psi-mi:“MI:0914”(association)	0.350
PB2	PIK3R2	psi-mi:“MI:0914”(association)	0.350
Mecom	ESYT2	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
G3BP2	FARS2	psi-mi:“MI:0914”(association)	0.350
NPM3	KPNA3	psi-mi:“MI:0914”(association)	0.350
CAPRIN1	EIF3CL	psi-mi:“MI:0914”(association)	0.350
HMGN5	SMCHD1	psi-mi:“MI:0914”(association)	0.350
NPM1	RPS3A	psi-mi:“MI:0914”(association)	0.350
NPM3	RPS3A	psi-mi:“MI:0914”(association)	0.350

BioGRID (146): C3orf17 (Affinity Capture-MS), C3orf17 (Affinity Capture-MS), C3orf17 (Affinity Capture-MS), C3orf17 (Affinity Capture-MS), C3orf17 (Affinity Capture-MS), C3orf17 (Affinity Capture-MS), C3orf17 (Affinity Capture-MS), C3orf17 (Affinity Capture-MS), C3orf17 (Affinity Capture-MS), POP1 (Affinity Capture-MS), UBE2O (Affinity Capture-MS), NPM1 (Affinity Capture-MS), RPP38 (Affinity Capture-MS), RPLP2 (Affinity Capture-MS), RPP25L (Affinity Capture-MS)

ESM2 similar proteins: A0A0M3U1B0, A0A1L8EYB2, A0JMF7, A2ALV5, A4D1B5, A9JRX0, B2GUZ2, D3IUT5, D3Z2X2, F1QB81, Q0VG85, Q13129, Q16533, Q1T764, Q2KHM9, Q3U1D0, Q567G6, Q5REF4, Q5T4T6, Q63517, Q66H02, Q6A000, Q6DRL4, Q6NW34, Q7L2Z9, Q7Z2Z1, Q7Z4H7, Q80VP2, Q86WZ0, Q8BMG1, Q8BQ33, Q8C263, Q8CCC3, Q8CDN1, Q8IX21, Q8K0S9, Q8ND61, Q8NG48, Q8R2U2, Q8VC34

Diamond homologs: Q567G6, Q6NW34, Q8R2U2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
NEPRO	“form complex”	“Ribonuclease MRP complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 109 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
tRNA processing	6	31.5×	5e-07
rRNA processing in the nucleus and cytosol	12	28.4×	1e-12
rRNA processing	12	25.8×	2e-12
tRNA processing in the nucleus	8	23.2×	1e-07
Major pathway of rRNA processing in the nucleolus and cytosol	21	19.1×	2e-19
Peptide chain elongation	9	16.8×	1e-07
Viral mRNA Translation	9	16.8×	1e-07
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	9	16.6×	1e-07

GO biological processes:

GO term	Partners	Fold	FDR
ribosomal large subunit biogenesis	5	23.3×	3e-04
rRNA processing	15	22.4×	5e-14
cytoplasmic translation	11	21.4×	7e-10
ribosomal small subunit biogenesis	6	14.4×	4e-04
translation	9	9.7×	5e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	8
Likely benign	4
Benign	6

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
869497	NM_015412.4(RMP64):c.435G>C (p.Leu145Phe)	Pathogenic

SpliceAI

1638 predictions. Top by Δscore:

Variant	Effect	Δscore
3:113008437:C:CT	acceptor_gain	1.0000
3:113013947:A:AC	donor_gain	1.0000
3:113013948:C:CC	donor_gain	1.0000
3:113013948:CTTA:C	donor_gain	1.0000
3:113013951:A:AC	donor_gain	1.0000
3:113013952:C:CC	donor_gain	1.0000
3:113014029:CAAC:C	acceptor_gain	1.0000
3:113014031:ACC:A	acceptor_loss	1.0000
3:113014032:CCT:C	acceptor_loss	1.0000
3:113014033:C:CC	acceptor_gain	1.0000
3:113014034:T:A	acceptor_loss	1.0000
3:113019538:TCACC:T	donor_loss	1.0000
3:113019539:CAC:C	donor_loss	1.0000
3:113019540:A:AC	donor_gain	1.0000
3:113019540:A:T	donor_loss	1.0000
3:113019541:C:CA	donor_loss	1.0000
3:113019541:C:CC	donor_gain	1.0000
3:113008166:CCTA:C	donor_loss	0.9900
3:113008168:TA:T	donor_loss	0.9900
3:113008169:A:AC	donor_gain	0.9900
3:113008169:A:AT	donor_loss	0.9900
3:113008170:C:CC	donor_gain	0.9900
3:113008438:G:C	acceptor_gain	0.9900
3:113008706:CTAAG:C	donor_gain	0.9900
3:113008714:T:A	donor_gain	0.9900
3:113010702:CTT:C	acceptor_gain	0.9900
3:113010713:G:C	acceptor_gain	0.9900
3:113010713:G:GC	acceptor_gain	0.9900
3:113011040:ATTAC:A	donor_loss	0.9900
3:113011041:TTA:T	donor_loss	0.9900

AlphaMissense

3749 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:113012742:G:C	S181R	0.993
3:113012742:G:T	S181R	0.993
3:113012744:T:G	S181R	0.993
3:113012778:G:C	F169L	0.992
3:113012778:G:T	F169L	0.992
3:113012780:A:G	F169L	0.992
3:113008206:G:C	S400R	0.984
3:113008206:G:T	S400R	0.984
3:113008208:T:G	S400R	0.984
3:113012766:G:C	N173K	0.984
3:113012766:G:T	N173K	0.984
3:113019614:A:G	W12R	0.983
3:113019614:A:T	W12R	0.983
3:113013274:A:C	F157L	0.978
3:113013274:A:T	F157L	0.978
3:113013276:A:G	F157L	0.978
3:113008297:A:G	L370P	0.977
3:113011271:A:C	F229L	0.977
3:113011271:A:T	F229L	0.977
3:113011273:A:G	F229L	0.977
3:113014013:C:G	R94P	0.973
3:113012739:C:A	R182S	0.968
3:113012739:C:G	R182S	0.968
3:113012740:C:G	R182T	0.967
3:113008201:C:G	R402P	0.966
3:113012740:C:A	R182M	0.966
3:113013286:G:C	C153W	0.966
3:113013324:C:G	G141R	0.966
3:113013324:C:T	G141R	0.966
3:113014014:G:T	R94S	0.965

dbSNP variants (sampled 300 via entrez): RS1000021673 (3:113019013 A>G), RS1000043513 (3:113013333 T>C,G), RS1000153167 (3:113006325 C>G,T), RS1000233842 (3:113013023 T>C), RS1000274593 (3:113006656 T>C), RS1000536792 (3:113018356 G>A), RS1001427419 (3:113012485 C>G), RS1001558013 (3:113004862 T>C), RS1001926601 (3:113003505 T>G), RS1001951941 (3:113016224 A>G), RS1002229496 (3:113011193 T>C,G), RS1002266562 (3:113010024 T>C), RS1002356962 (3:113003776 A>T), RS1002396007 (3:113017758 T>C), RS1002607344 (3:113021063 A>T)

Disease associations

OMIM: gene MIM:617089 | disease phenotypes: MIM:618853

GenCC curated gene-disease

Disease	Classification	Inheritance
anauxetic dysplasia 3	Strong	Autosomal recessive
anauxetic dysplasia	Supportive	Autosomal recessive

Mondo (3): microcephaly (MONDO:0001149), anauxetic dysplasia 3 (MONDO:0030019), anauxetic dysplasia (MONDO:0011773)

Orphanet (0):

HPO phenotypes

36 total (30 of 36 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000260	Wide anterior fontanel
HP:0000278	Retrognathia
HP:0000677	Oligodontia
HP:0000767	Pectus excavatum
HP:0000774	Narrow chest
HP:0000926	Platyspondyly
HP:0000973	Cutis laxa
HP:0001156	Brachydactyly
HP:0001263	Global developmental delay
HP:0001270	Motor delay
HP:0001290	Generalized hypotonia
HP:0001357	Plagiocephaly
HP:0001382	Joint hypermobility
HP:0001792	Small nail
HP:0002020	Gastroesophageal reflux
HP:0002176	Spinal cord compression
HP:0002205	Recurrent respiratory infections
HP:0002209	Sparse scalp hair
HP:0002857	Genu valgum
HP:0002980	Femoral bowing
HP:0003021	Metaphyseal cupping
HP:0003177	Squared iliac bones
HP:0003423	Thoracolumbar kyphoscoliosis
HP:0003510	Severe short stature
HP:0004060	Trident hand
HP:0004568	Beaking of vertebral bodies
HP:0005280	Depressed nasal bridge
HP:0005819	Short middle phalanx of finger
HP:0009844	Broad middle phalanx of finger

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
C538256	Anauxetic dysplasia (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects expression, affects cotreatment	5
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
dicrotophos	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
trichostatin A	decreases expression	1
butyraldehyde	decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
K 7174	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
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases phosphorylation	1
Doxorubicin	decreases expression	1
Lead	affects splicing	1
Methotrexate	increases expression	1
Ozone	affects cotreatment, increases expression, increases abundance	1
Plant Extracts	increases expression, affects cotreatment	1
Ribonucleotides	affects binding	1
Cyclosporine	increases expression	1
Volatile Organic Compounds	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05518188	PHASE1/PHASE2	RECRUITING	Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
NCT00001639	Not specified	COMPLETED	Evaluation of Patients With Unresolved Chromosome Abnormalities
NCT01151462	Not specified	WITHDRAWN	Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes.
NCT01565005	Not specified	COMPLETED	Microcephaly Genetic Deficiency in Neural Progenitors
NCT02510170	Not specified	COMPLETED	Fetal and Maternal Head Circumference During Pregnancy in Israeli Population
NCT02741882	Not specified	COMPLETED	Zika and Microcephaly: Case-control Study
NCT02943304	Not specified	COMPLETED	Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero
NCT03255369	Not specified	UNKNOWN	Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF)
NCT03325946	Not specified	RECRUITING	The FBRI VTC Neuromotor Research Clinic
NCT03330600	Not specified	COMPLETED	Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome
NCT03548779	Not specified	COMPLETED	North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
NCT03651687	Not specified	COMPLETED	Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM)
NCT03922594	Not specified	TERMINATED	Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia
NCT04816175	Not specified	COMPLETED	Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay
NCT05322980	Not specified	COMPLETED	Summary of Infants Weighing 500 Grams or Less
NCT06019182	Not specified	RECRUITING	MEHMO Natural History and Biomarkers
NCT06566066	Not specified	RECRUITING	Register for Patients With Thyroid Hormone Resistance.