C19orf38

Summary

C19orf38 (chromosome 19 open reading frame 38, HGNC:34073) is a protein-coding gene on chromosome 19p13.2, encoding Protein HIDE1 (A8MVS5).

Predicted to be located in membrane.

Source: NCBI Gene 255809 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 2 total
• MANE Select transcript: NM_001136482

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:34073
Approved symbol	C19orf38
Name	chromosome 19 open reading frame 38
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	HIDE1
Ensembl gene	ENSG00000214212
Ensembl biotype	protein_coding
Entrez	255809

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron

ENST00000397820, ENST00000587494, ENST00000592854, ENST00000872348, ENST00000872349, ENST00000872350, ENST00000872351

RefSeq mRNA: 1 — MANE Select: NM_001136482 NM_001136482

CCDS: CCDS45970

Canonical transcript exons

ENST00000397820 — 7 exons

Exon	Start	End
ENSE00001530359	10869218	10869790
ENSE00001530369	10863170	10863207
ENSE00001530374	10859915	10859958
ENSE00002861188	10848415	10848539
ENSE00003470462	10856265	10856357
ENSE00003651080	10858316	10858343
ENSE00003679756	10850259	10850567

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 98.20.

FANTOM5 (CAGE): breadth broad, TPM avg 10.5461 / max 435.6493, expressed in 536 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
173859	9.6339	445
173860	0.6738	182
173858	0.2384	89

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
monocyte	CL:0000576	98.20	gold quality
leukocyte	CL:0000738	98.11	gold quality
granulocyte	CL:0000094	97.65	gold quality
blood	UBERON:0000178	97.05	gold quality
bone marrow	UBERON:0002371	93.41	gold quality
bone marrow cell	CL:0002092	91.48	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	85.53	gold quality
spleen	UBERON:0002106	85.04	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.28	gold quality
vermiform appendix	UBERON:0001154	80.92	gold quality
right testis	UBERON:0004534	78.83	gold quality
testis	UBERON:0000473	77.99	gold quality
left testis	UBERON:0004533	77.81	gold quality
right lung	UBERON:0002167	75.72	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	73.37	gold quality
lymph node	UBERON:0000029	72.94	gold quality
upper lobe of left lung	UBERON:0008952	72.86	gold quality
lung	UBERON:0002048	70.64	gold quality
placenta	UBERON:0001987	70.62	gold quality
gall bladder	UBERON:0002110	70.05	gold quality
gastrocnemius	UBERON:0001388	69.71	gold quality
muscle of leg	UBERON:0001383	69.09	gold quality
hindlimb stylopod muscle	UBERON:0004252	68.42	gold quality
substantia nigra	UBERON:0002038	68.31	gold quality
smooth muscle tissue	UBERON:0001135	66.63	gold quality
left uterine tube	UBERON:0001303	66.02	gold quality
fallopian tube	UBERON:0003889	65.87	gold quality
muscle tissue	UBERON:0002385	65.54	gold quality
omental fat pad	UBERON:0010414	65.46	gold quality
right lobe of liver	UBERON:0001114	65.34	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	24.75
E-ANND-3	yes	10.25
E-MTAB-9801	yes	6.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

13 targeting C19orf38, 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-6870-5P	99.99	68.55	2115
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-4251	99.40	69.19	3363
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-4324	99.04	70.14	1569
HSA-MIR-6780A-3P	98.42	67.49	1518
HSA-MIR-615-5P	98.10	63.76	591
HSA-MIR-637	97.91	64.05	1517
HSA-MIR-4732-3P	97.15	65.45	881
HSA-MIR-4288	97.11	67.23	1636

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	AB124611	ENSMUSG00000057191
rattus_norvegicus	C8h19orf38	ENSRNOG00000033256

Protein

Protein identifiers

Protein HIDE1 — A8MVS5 (reviewed: A8MVS5)

All UniProt accessions (1): A8MVS5

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Membrane.

RefSeq proteins (1): NP_001129954* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013783	Ig-like_fold	Homologous_superfamily
IPR036179	Ig-like_dom_sf	Homologous_superfamily
IPR040438	HIDE1	Family
IPR041066	C19orf38_Ig	Domain

Pfam: PF17737

UniProt features (9 total): topological domain 2, glycosylation site 2, signal peptide 1, chain 1, transmembrane region 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A8MVS5-F1	73.98	0.40

Functional residue map

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

Glycosylation sites (2): 48, 97

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 127 (showing top): IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, chr19p13, CHEN_METABOLIC_SYNDROM_NETWORK, GSE13522_CTRL_VS_T_CRUZI_Y_STRAIN_INF_SKIN_IFNAR_KO_UP, ARID5B_TARGET_GENES, ATF6_TARGET_GENES, BARX1_TARGET_GENES, DACH1_TARGET_GENES, DIDO1_TARGET_GENES, E2F5_TARGET_GENES, FOXD2_TARGET_GENES, HES4_TARGET_GENES, HHEX_TARGET_GENES, IRF5_TARGET_GENES, KLF7_TARGET_GENES

GO Biological Process (0):

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

56 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C19orf38	GIMAP1	Q8WWP7	380
C19orf38	ARHGEF26	Q96DR7	323
C19orf38	VAMP5	O95183	320
C19orf38	KANK2	Q63ZY3	317
C19orf38	DOCK6	Q96HP0	311
C19orf38	AMPD2	Q01433	300
C19orf38	GGT5	P36269	272
C19orf38	GNAI2	P04899	249
C19orf38	TRIB1	Q96RU8	243
C19orf38	SEMA3F	Q13275	210
C19orf38	SH2B3	Q9UQQ2	193
C19orf38	COL4A2	P08572	177
C19orf38	KCNN3	Q9UGI6	176
C19orf38	VASP	P50552	167
C19orf38	COL4A1	P02462	154

IntAct

12 interactions, top by confidence:

A	B	Type	Score
HIDE1	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.560
HIDE1	GSDME	psi-mi:“MI:0914”(association)	0.530
CFTR	HIDE1	psi-mi:“MI:0915”(physical association)	0.370
HIDE1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
ALKBH7	HIDE1	psi-mi:“MI:0914”(association)	0.350
DNAJC5	HIDE1	psi-mi:“MI:0914”(association)	0.350
PLAAT1	HIDE1	psi-mi:“MI:0914”(association)	0.350
TTPAL	HIDE1	psi-mi:“MI:0914”(association)	0.350
LCN2	HIDE1	psi-mi:“MI:0914”(association)	0.350
HIDE1	KRTAP1-1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (83): C19orf38 (Two-hybrid), TNPO2 (Affinity Capture-MS), PDS5A (Affinity Capture-MS), GPRC5B (Affinity Capture-MS), RRP1 (Affinity Capture-MS), DYNC2H1 (Affinity Capture-MS), NF1 (Affinity Capture-MS), LTN1 (Affinity Capture-MS), C19orf38 (Affinity Capture-MS), TNPO3 (Affinity Capture-MS), DFNA5 (Affinity Capture-MS), C19orf38 (Affinity Capture-MS), NCAPG2 (Affinity Capture-MS), HEATR3 (Affinity Capture-MS), RABGAP1L (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GW64, A0A5F4BST2, A0PJX4, A8MVS5, A8MWV9, B0FP48, E5RIL1, E9PGG2, O14836, O60320, O95998, P09564, Q01113, Q01114, Q13477, Q2KI80, Q2T9R2, Q3TS39, Q3UPR0, Q3URD2, Q4V9L6, Q5FVJ4, Q5M869, Q6A044, Q6UWJ8, Q75VT8, Q864V4, Q8BRJ3, Q8BX43, Q8C503, Q8IVY1, Q8K5A9, Q8N112, Q8NC24, Q8NDY8, Q8QZT4, Q8R138, Q969Z4, Q9BUF7, Q9CQM1

Diamond homologs: A8MVS5, Q75VT8

SIGNOR signaling

0 interactions.

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	1
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1521 predictions. Top by Δscore:

Variant	Effect	Δscore
19:10850564:CCAGG:C	donor_loss	1.0000
19:10850565:CAGG:C	donor_loss	1.0000
19:10850566:AGGTA:A	donor_loss	1.0000
19:10850568:GTAAG:G	donor_loss	1.0000
19:10850569:T:A	donor_loss	1.0000
19:10856251:T:TA	acceptor_gain	1.0000
19:10856263:A:AG	acceptor_gain	1.0000
19:10856264:G:GA	acceptor_gain	1.0000
19:10863205:GCG:G	donor_gain	1.0000
19:10863208:G:GG	donor_gain	1.0000
19:10869206:A:AG	acceptor_gain	1.0000
19:10869206:ACAT:A	acceptor_gain	1.0000
19:10869206:ACATG:A	acceptor_gain	1.0000
19:10869208:A:AG	acceptor_gain	1.0000
19:10869208:AT:A	acceptor_gain	1.0000
19:10869208:ATG:A	acceptor_gain	1.0000
19:10869209:T:G	acceptor_gain	1.0000
19:10869209:T:TA	acceptor_gain	1.0000
19:10869210:G:A	acceptor_gain	1.0000
19:10836771:G:GG	donor_gain	0.9900
19:10848430:T:TA	acceptor_gain	0.9900
19:10848536:GCTG:G	donor_gain	0.9900
19:10850254:TGCA:T	acceptor_loss	0.9900
19:10850255:GCA:G	acceptor_loss	0.9900
19:10850256:CAGGC:C	acceptor_loss	0.9900
19:10850257:A:AG	acceptor_gain	0.9900
19:10850257:A:G	acceptor_loss	0.9900
19:10850258:G:GG	acceptor_gain	0.9900
19:10856264:GT:G	acceptor_gain	0.9900
19:10858314:A:AG	acceptor_gain	0.9900

AlphaMissense

1487 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:10850372:T:C	F49L	0.996
19:10850374:C:A	F49L	0.996
19:10850374:C:G	F49L	0.996
19:10850442:T:C	F72S	0.995
19:10850373:T:C	F49S	0.994
19:10850339:T:A	C38S	0.993
19:10850340:G:C	C38S	0.993
19:10850441:T:C	F72L	0.993
19:10850443:T:A	F72L	0.993
19:10850443:T:G	F72L	0.993
19:10850489:T:A	C88S	0.993
19:10850490:G:C	C88S	0.993
19:10850373:T:G	F49C	0.992
19:10850442:T:G	F72C	0.992
19:10850339:T:C	C38R	0.991
19:10850340:G:A	C38Y	0.991
19:10850341:C:G	C38W	0.989
19:10850334:T:A	I36N	0.987
19:10856294:A:C	S124R	0.987
19:10856296:C:A	S124R	0.987
19:10856296:C:G	S124R	0.987
19:10850540:A:C	S105R	0.986
19:10850542:C:A	S105R	0.986
19:10850542:C:G	S105R	0.986
19:10869341:T:C	F223L	0.986
19:10869343:C:A	F223L	0.986
19:10869343:C:G	F223L	0.986
19:10850379:T:A	L51Q	0.985
19:10850489:T:C	C88R	0.984
19:10850490:G:A	C88Y	0.984

dbSNP variants (sampled 300 via entrez): RS1000004983 (19:10841966 A>G), RS1000066619 (19:10843273 T>C), RS1000223483 (19:10838873 C>G), RS1000271041 (19:10853048 A>C), RS1000446867 (19:10846181 CAAA>C,CAA,CAAAA), RS1000460221 (19:10858934 ATGT>A), RS1000480887 (19:10845151 C>A,T), RS1000486946 (19:10851652 G>A,T), RS1000665260 (19:10843838 G>A), RS1000747461 (19:10851307 C>A), RS1000754726 (19:10851830 C>T), RS1000760892 (19:10857509 G>T), RS1000793611 (19:10857777 A>T), RS1000834999 (19:10856755 C>T), RS1000946819 (19:10864164 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)

CTD chemical–gene interactions

14 total (human), top 14 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, affects methylation	2
Cisplatin	affects cotreatment, decreases expression, increases expression	2
aristolochic acid I	increases expression	1
aminomethylphosphonic acid (AMPA)	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Testosterone	increases expression	1
Tretinoin	increases expression	1
2,4-Dichlorophenoxyacetic Acid	increases expression	1
Asbestos, Serpentine	decreases expression	1
Particulate Matter	increases abundance, increases expression	1

Clinical trials (associated diseases)

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