FAM236C

Summary

FAM236C (family with sequence similarity 236 member C, HGNC:52641) is a protein-coding gene on chromosome Xq13.1, encoding Protein FAM236C (P0DP71).

At a glance

• MANE Select transcript: NM_001351111

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:52641
Approved symbol	FAM236C
Name	family with sequence similarity 236 member C
Location	Xq13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000283594
Ensembl biotype	protein_coding
Entrez	109729126

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000636267, ENST00000636532

RefSeq mRNA: 2 — MANE Select: NM_001351111 NM_001351111, NM_001351112

CCDS: CCDS87763, CCDS87764

Canonical transcript exons

ENST00000636267 — 3 exons

Exon	Start	End
ENSE00003797728	72912920	72913095
ENSE00003798871	72913251	72913401
ENSE00003799980	72912615	72912750

Expression profiles

Bgee: expression breadth broad, 17 present calls, max score 93.01.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	93.01	silver quality
right testis	UBERON:0004534	57.83	gold quality
testis	UBERON:0000473	57.27	gold quality
left testis	UBERON:0004533	57.03	gold quality
right hemisphere of cerebellum	UBERON:0014890	38.90	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
cerebellar cortex	UBERON:0002129	37.13	gold quality
cerebellum	UBERON:0002037	37.07	gold quality
cerebellar hemisphere	UBERON:0002245	36.94	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	34.96	gold quality
muscle tissue	UBERON:0002385	32.22	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.64	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality
lymph node	UBERON:0000029	27.57	gold quality
tonsil	UBERON:0002372	27.05	gold quality
islet of Langerhans	UBERON:0000006	26.55	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
placenta	UBERON:0001987	25.81	gold quality
urinary bladder	UBERON:0001255	25.72	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.66

Regulation

Is transcription factor: no

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
mus_musculus	Fam236e	ENSMUSG00000079476
mus_musculus	Fam236f	ENSMUSG00000079479
rattus_norvegicus		ENSRNOG00000064026
rattus_norvegicus		ENSRNOG00000065493
rattus_norvegicus	Fam236d	ENSRNOG00000069062

Paralogs (3): FAM236D (ENSG00000225396), FAM236B (ENSG00000268994), FAM236A (ENSG00000275520)

Protein

Protein identifiers

Protein FAM236C — P0DP71 (reviewed: P0DP71)

All UniProt accessions (2): P0DP71, A0A1B0GUG4

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM236 family.

RefSeq proteins (2): NP_001338040, NP_001338041 (=MANE)

Domains & families (InterPro)

UniProt features (2 total): chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0DP71-F1	64.42	0.02

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 1 (showing top): chrXq13

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (0):

Protein interactions and networks

STRING

0 interactions, top by confidence (×1000):

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0A1B0GTK4, A0A1B0GTK5, A0JNL8, A2RUT3, A4D250, B2KGE5, F1MQW7, F2Z3F1, F5HHT4, O93195, O95411, P04610, P05905, P0C733, P0C7M3, P0DP71, P16722, P17758, P47939, P47940, P57738, Q0VD86, Q1HVB5, Q1RN00, Q1X6Y7, Q1X6Z1, Q1X6Z2, Q3ZN08, Q5PR19, Q5PXH1, Q5TC04, Q5TEZ4, Q64902, Q66669, Q66HF0, Q67863, Q6DGF6, Q6UYE1, Q7L4S7, Q8AZJ3

Diamond homologs: A0A1B0GTK5, A0A1B0GUQ0, A0A1B0GV22, P0DP71

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

504 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:72912730:T:C	F6L	0.911
X:72912732:C:A	F6L	0.911
X:72912732:C:G	F6L	0.911
X:72912721:T:C	F3L	0.888
X:72912723:C:A	F3L	0.888
X:72912723:C:G	F3L	0.888
X:72913091:T:C	F70L	0.864
X:72913093:C:A	F70L	0.864
X:72913093:C:G	F70L	0.864
X:72913058:T:C	F59L	0.735
X:72913060:C:A	F59L	0.735
X:72913060:C:G	F59L	0.735
X:72912719:T:C	I2T	0.715
X:72913079:T:C	F66L	0.710
X:72913081:C:A	F66L	0.710
X:72913081:C:G	F66L	0.710
X:72913048:G:C	W55C	0.700
X:72913048:G:T	W55C	0.700
X:72913087:G:C	K68N	0.695
X:72913087:G:T	K68N	0.695
X:72913059:T:C	F59S	0.693
X:72913063:G:C	Q60H	0.692
X:72913063:G:T	Q60H	0.692
X:72913051:G:C	R56S	0.663
X:72913051:G:T	R56S	0.663
X:72912722:T:C	F3S	0.661
X:72913092:T:C	F70S	0.660
X:72912719:T:G	I2S	0.652
X:72912722:T:G	F3C	0.624
X:72912728:C:A	P5H	0.599

dbSNP variants (sampled 300 via entrez): RS1157240317 (X:72913149 C>A), RS1157499180 (X:72911704 A>G), RS1158903817 (X:72913764 G>A), RS1159056466 (X:72912666 C>T), RS1160856682 (X:72911711 G>A,C), RS1161708156 (X:72913272 A>C), RS1162415278 (X:72912824 T>G), RS1164277806 (X:72911255 C>T), RS1165887285 (X:72911907 C>A,G,T), RS1165909953 (X:72911331 T>G), RS1166359719 (X:72913367 C>T), RS1167415524 (X:72913506 T>G), RS1168521893 (X:72912913 T>C), RS1170673300 (X:72912005 C>T), RS1171941219 (X:72913002 G>C)

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)

Clinical trials (associated diseases)

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