FAM236D

Summary

FAM236D (family with sequence similarity 236 member D, HGNC:52642) is a protein-coding gene on chromosome Xq13.1, encoding Protein FAM236D (A0A1B0GTK5).

At a glance

• MANE Select transcript: NM_001348203

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:52642
Approved symbol	FAM236D
Name	family with sequence similarity 236 member D
Location	Xq13.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000225396
Ensembl biotype	protein_coding
Entrez	105373251

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000419795, ENST00000458170

RefSeq mRNA: 2 — MANE Select: NM_001348203 NM_001348202, NM_001348203

CCDS: CCDS87761, CCDS87762

Canonical transcript exons

ENST00000419795 — 3 exons

Exon	Start	End
ENSE00001610066	72807425	72807575
ENSE00001627814	72808075	72808210
ENSE00001792174	72807730	72807905

Expression profiles

Bgee: expression breadth broad, 34 present calls, max score 93.64.

Top tissues by expression

105 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	93.64	silver quality
left testis	UBERON:0004533	72.11	gold quality
right testis	UBERON:0004534	71.81	gold quality
testis	UBERON:0000473	69.08	gold quality
cerebellar hemisphere	UBERON:0002245	44.94	gold quality
cerebellar cortex	UBERON:0002129	44.81	gold quality
cerebellum	UBERON:0002037	44.75	gold quality
right hemisphere of cerebellum	UBERON:0014890	39.67	gold quality
colonic epithelium	UBERON:0000397	37.20	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
right uterine tube	UBERON:0001302	34.68	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
tonsil	UBERON:0002372	31.33	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	30.42	gold quality
putamen	UBERON:0001874	29.92	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
prefrontal cortex	UBERON:0000451	29.73	gold quality
lymph node	UBERON:0000029	29.55	silver quality
nucleus accumbens	UBERON:0001882	29.33	silver quality
substantia nigra	UBERON:0002038	28.59	gold quality
brain	UBERON:0000955	28.52	gold quality
duodenum	UBERON:0002114	28.14	gold quality
liver	UBERON:0002107	28.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.16

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): FAM236B (ENSG00000268994), FAM236A (ENSG00000275520), FAM236C (ENSG00000283594)

Protein

Protein identifiers

Protein FAM236D — A0A1B0GTK5 (reviewed: A0A1B0GTK5)

All UniProt accessions (2): A0A1B0GTK5, A0A1B0GUG4

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM236 family.

RefSeq proteins (2): NP_001335131, NP_001335132* (*=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-A0A1B0GTK5-F1	64.17	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

4 predictions. Top by Δscore:

Variant	Effect	Δscore
X:72808192:TGCA:T	donor_gain	0.7400
X:72808193:GCAA:G	donor_gain	0.4700
X:72808080:C:A	donor_gain	0.2300
X:72807544:G:GA	donor_gain	0.2100

AlphaMissense

504 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS10556407 (X:72807289 CGAG>C), RS111547771 (X:72809082 A>G), RS113966986 (X:72809178 T>C), RS1158026000 (X:72808219 C>G), RS1159823028 (X:72807469 A>G,T), RS1161074505 (X:72809324 G>A), RS1164117202 (X:72807609 G>C), RS1164426198 (X:72806979 C>T), RS1168594947 (X:72807787 C>T), RS1170948448 (X:72807162 A>G), RS1174821981 (X:72807320 A>C), RS1175315947 (X:72807307 G>A), RS1176534283 (X:72807994 G>A), RS1177428431 (X:72808022 A>G), RS1179278620 (X:72807355 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)

Clinical trials (associated diseases)

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