C17orf113

Summary

C17orf113 (chromosome 17 open reading frame 113, HGNC:53437) is a protein-coding gene on chromosome 17q21.2, encoding Uncharacterized protein C17orf113 (A0A1B0GUU1).

At a glance

• MANE Select transcript: NM_001358661

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:53437
Approved symbol	C17orf113
Name	chromosome 17 open reading frame 113
Location	17q21.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000267221
Ensembl biotype	protein_coding
Entrez	110806298

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000587304, ENST00000858984

RefSeq mRNA: 1 — MANE Select: NM_001358661 NM_001358661

CCDS: CCDS86598

Canonical transcript exons

ENST00000587304 — 3 exons

Exon	Start	End
ENSE00002740429	42042834	42043563
ENSE00002796523	42038232	42041189
ENSE00003794915	42050557	42050601

Expression profiles

Bgee: expression breadth ubiquitous, 158 present calls, max score 83.21.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8760 / max 13.7506, expressed in 491 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
166085	0.8760	491

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
kidney epithelium	UBERON:0004819	83.21	gold quality
oviduct epithelium	UBERON:0004804	79.52	gold quality
left ventricle myocardium	UBERON:0006566	77.80	gold quality
cardiac muscle of right atrium	UBERON:0003379	77.22	gold quality
buccal mucosa cell	CL:0002336	77.15	silver quality
nasal cavity epithelium	UBERON:0005384	76.22	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	73.46	silver quality
myocardium	UBERON:0002349	72.68	gold quality
epithelial cell of pancreas	CL:0000083	72.53	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	71.91	gold quality
upper arm skin	UBERON:0004263	71.54	gold quality
biceps brachii	UBERON:0001507	69.28	gold quality
quadriceps femoris	UBERON:0001377	69.15	gold quality
vastus lateralis	UBERON:0001379	68.44	gold quality
ventricular zone	UBERON:0003053	68.43	gold quality
right hemisphere of cerebellum	UBERON:0014890	68.35	gold quality
cerebellar cortex	UBERON:0002129	67.83	gold quality
cerebellar hemisphere	UBERON:0002245	67.80	gold quality
right uterine tube	UBERON:0001302	67.74	gold quality
body of pancreas	UBERON:0001150	67.60	gold quality
apex of heart	UBERON:0002098	67.47	gold quality
pancreatic ductal cell	CL:0002079	67.41	silver quality
cerebellum	UBERON:0002037	67.15	gold quality
cerebellar vermis	UBERON:0004720	67.00	gold quality
ganglionic eminence	UBERON:0004023	66.21	gold quality
fallopian tube	UBERON:0003889	66.19	gold quality
muscle tissue	UBERON:0002385	65.82	gold quality
hindlimb stylopod muscle	UBERON:0004252	65.79	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	65.59	gold quality
skeletal muscle tissue	UBERON:0001134	65.51	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.19

Regulation

Is transcription factor: no

Cross-species orthologs

1 orthologs

Organism	Symbol	Gene ID
danio_rerio	zbtb8b	ENSDARG00000035889

Paralogs (5): ZBTB8A (ENSG00000160062), ZBTB10 (ENSG00000205189), ZBTB9 (ENSG00000213588), ZBTB22 (ENSG00000236104), ZBTB8B (ENSG00000273274)

Protein

Protein identifiers

Uncharacterized protein C17orf113 — A0A1B0GUU1 (reviewed: A0A1B0GUU1)

All UniProt accessions (1): A0A1B0GUU1

RefSeq proteins (1): NP_001345590* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR057456	Znf_C17orf113	Domain

Pfam: PF25431

UniProt features (1 total): chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A0A1B0GUU1-F1	82.18	0.48

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 2 (showing top): PTPRA_TARGET_GENES, chr17q21

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

102 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
C17orf113	ANLN	Q9NQW6	166
C17orf113	ZC3H12A	Q5D1E8	166
C17orf113	KCNS3	Q9BQ31	166
C17orf113	PDAP1	Q13442	163
C17orf113	DSTN	P18282	163
C17orf113	TIMM17A	Q99595	163
C17orf113	LYPD6B	Q8NI32	158
C17orf113	SPON1	Q9HCB6	155
C17orf113	C1QBP	Q07021	146
C17orf113	GTF2H4	Q92759	141
C17orf113	INO80B	Q9C086	138
C17orf113	NSD1	Q96L73	135
C17orf113	MRPL33	O75394	129
C17orf113	UBE2S	Q16763	124
C17orf113	Q32Q12	Q32Q12	122

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A061IR73, A0A1B0GUU1, A6H687, A8MYJ7, B1WC39, D3ZVB0, E1BD59, G3MY25, G3MZC5, O75064, P07199, P27790, P29597, P48988, P52333, P52824, Q08DF2, Q0VCE3, Q13608, Q1JPD6, Q2VPB7, Q3TAP4, Q3U1Y4, Q3ZBE0, Q499M4, Q53EQ6, Q5JZY3, Q62137, Q63272, Q6B0B8, Q6DI92, Q6ZPS2, Q6ZS72, Q7TM95, Q80VI1, Q86UT6, Q8BYG9, Q8N9M5, Q8R5G7, Q8TE96

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

0 predictions. Top by Δscore:

AlphaMissense

4285 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:42043296:C:A	W27C	1.000
17:42043296:C:G	W27C	1.000
17:42043140:G:C	H79Q	0.999
17:42043140:G:T	H79Q	0.999
17:42043142:G:C	H79D	0.999
17:42043142:G:T	H79N	0.999
17:42043164:G:C	F71L	0.999
17:42043164:G:T	F71L	0.999
17:42043165:A:G	F71S	0.999
17:42043166:A:G	F71L	0.999
17:42043167:G:C	N70K	0.999
17:42043167:G:T	N70K	0.999
17:42043177:C:T	G67D	0.999
17:42043185:G:C	F64L	0.999
17:42043185:G:T	F64L	0.999
17:42043187:A:G	F64L	0.999
17:42043245:G:C	F44L	0.999
17:42043245:G:T	F44L	0.999
17:42043247:A:G	F44L	0.999
17:42043249:A:G	M43T	0.999
17:42043278:C:A	W33C	0.999
17:42043278:C:G	W33C	0.999
17:42043280:A:G	W33R	0.999
17:42043280:A:T	W33R	0.999
17:42043284:A:C	F31L	0.999
17:42043284:A:T	F31L	0.999
17:42043286:A:G	F31L	0.999
17:42043297:C:G	W27S	0.999
17:42043298:A:G	W27R	0.999
17:42043298:A:T	W27R	0.999

dbSNP variants (sampled 300 via entrez): RS1000074571 (17:42039517 G>A,C), RS1000420097 (17:42046801 C>G), RS1000479070 (17:42052520 T>A), RS1002424013 (17:42040818 C>T), RS1002675027 (17:42037876 G>A), RS1003428814 (17:42042348 C>T), RS1003502576 (17:42043920 G>A), RS1003607376 (17:42049320 A>G), RS1003774169 (17:42049929 T>C), RS1004103224 (17:42049804 C>T), RS1004401780 (17:42042266 A>C), RS1005737300 (17:42038857 G>A), RS1005788902 (17:42039076 C>A,T), RS1006341036 (17:42043775 C>G,T), RS1006452131 (17:42051990 C>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

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression	1
Niclosamide	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Okadaic Acid	decreases expression	1

Clinical trials (associated diseases)

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