FAM131B

Summary

FAM131B (family with sequence similarity 131 member B, HGNC:22202) is a protein-coding gene on chromosome 7q34, encoding Protein FAM131B (Q86XD5).

Located in cytosol and nucleoplasm.

Source: NCBI Gene 9715 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 65 total — 1 pathogenic
• MANE Select transcript: NM_001031690

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22202
Approved symbol	FAM131B
Name	family with sequence similarity 131 member B
Location	7q34
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0773
Ensembl gene	ENSG00000159784
Ensembl biotype	protein_coding
OMIM	619282
Entrez	9715

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 6 protein_coding, 3 nonsense_mediated_decay, 1 retained_intron

ENST00000409222, ENST00000409346, ENST00000409408, ENST00000409578, ENST00000410085, ENST00000443739, ENST00000519161, ENST00000519279, ENST00000521347, ENST00000938963

RefSeq mRNA: 9 — MANE Select: NM_001031690 NM_001031690, NM_001278297, NM_001371248, NM_001371249, NM_001371250, NM_001371251, NM_001371252, NM_001371253, NM_014690

CCDS: CCDS47734, CCDS5882, CCDS94222

Canonical transcript exons

ENST00000443739 — 7 exons

Exon	Start	End
ENSE00001589782	143353400	143357022
ENSE00002224150	143362576	143362713
ENSE00002431275	143359732	143359767
ENSE00003488519	143357280	143357423
ENSE00003562008	143358827	143359024
ENSE00003614488	143359326	143359419
ENSE00003676497	143360040	143360149

Expression profiles

Bgee: expression breadth ubiquitous, 193 present calls, max score 97.19.

FANTOM5 (CAGE): breadth broad, TPM avg 3.5374 / max 217.0966, expressed in 419 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
86659	2.9723	400
86656	0.3717	150
86657	0.0963	52
86660	0.0634	38
86658	0.0337	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	97.19	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.97	gold quality
cerebellar hemisphere	UBERON:0002245	95.95	gold quality
cerebellar cortex	UBERON:0002129	95.91	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	94.95	gold quality
prefrontal cortex	UBERON:0000451	94.89	gold quality
cerebellum	UBERON:0002037	94.84	gold quality
right frontal lobe	UBERON:0002810	94.24	gold quality
ganglionic eminence	UBERON:0004023	93.84	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.66	gold quality
primary visual cortex	UBERON:0002436	93.45	gold quality
frontal cortex	UBERON:0001870	92.88	gold quality
spinal cord	UBERON:0002240	92.87	gold quality
endothelial cell	CL:0000115	92.59	gold quality
neocortex	UBERON:0001950	92.45	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.17	gold quality
cerebral cortex	UBERON:0000956	91.23	gold quality
medial globus pallidus	UBERON:0002477	91.20	gold quality
middle temporal gyrus	UBERON:0002771	91.19	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.13	gold quality
superior frontal gyrus	UBERON:0002661	90.89	gold quality
Brodmann (1909) area 46	UBERON:0006483	90.75	gold quality
postcentral gyrus	UBERON:0002581	90.60	gold quality
cingulate cortex	UBERON:0003027	90.55	gold quality
anterior cingulate cortex	UBERON:0009835	90.41	gold quality
occipital lobe	UBERON:0002021	90.38	gold quality
orbitofrontal cortex	UBERON:0004167	90.12	gold quality
ventricular zone	UBERON:0003053	89.97	gold quality
telencephalon	UBERON:0001893	89.93	gold quality
parietal lobe	UBERON:0001872	89.22	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.10

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

196 targeting FAM131B, 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-6873-3P	100.00	71.42	2626
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4768-5P	100.00	69.49	2861
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4531	99.99	69.70	3181

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	fam131bb	ENSDARG00000070575
danio_rerio	fam131ba	ENSDARG00000070952
mus_musculus	Fam131b	ENSMUSG00000029861
rattus_norvegicus	Fam131b	ENSRNOG00000017149

Paralogs (2): FAM131A (ENSG00000175182), FAM131C (ENSG00000185519)

Protein

Protein identifiers

Protein FAM131B — Q86XD5 (reviewed: Q86XD5)

All UniProt accessions (4): Q86XD5, E5RI17, E5RJ60, H0Y3V6

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the FAM131 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q86XD5-1	1	yes
Q86XD5-2	2
Q86XD5-3	3

RefSeq proteins (9): NP_001026860, NP_001265226, NP_001358177, NP_001358178, NP_001358179, NP_001358180, NP_001358181, NP_001358182, NP_055505 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026782	FAM131	Family

Pfam: PF15010

UniProt features (27 total): modified residue 10, sequence conflict 4, compositionally biased region 4, region of interest 3, splice variant 2, chain 1, sequence variant 1, initiator methionine 1, lipid moiety-binding region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86XD5-F1	55.50	0.07

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 (11): 117, 295, 297, 313, 316, 317, 318, 322, 2, 47, 114

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-6802952	Signaling by BRAF and RAF1 fusions

MSigDB gene sets: 136 (showing top): TGGTGCT_MIR29A_MIR29B_MIR29C, AGGAAGC_MIR5163P, GNF2_RTN1, SRF_Q5_01, AGTCTTA_MIR499, MODULE_379, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, HOOI_ST7_TARGETS_DN, ACTTTAT_MIR1425P, MODULE_242, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, NUYTTEN_EZH2_TARGETS_DN, MODULE_104, NUYTTEN_NIPP1_TARGETS_DN, MODULE_7

GO Biological Process (0):

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

GO Cellular Component (2): nucleoplasm (GO:0005654), cytosol (GO:0005829)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Oncogenic MAPK signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
binding	1
nuclear lumen	1
cytoplasm	1

Protein interactions and networks

STRING

1118 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FAM131B	KIAA1549	Q9HCM3	796
FAM131B	RNF130	Q86XS8	754
FAM131B	CLCN6	P51797	722
FAM131B	MKRN1	Q9UHC7	657
FAM131B	SRGAP3	O43295	646
FAM131B	SRGAP2	O75044	625
FAM131B	GNAI1	P04898	538
FAM131B	BRAF	P15056	480
FAM131B	ZMAT2	Q96NC0	457
FAM131B	QKI	Q96PU8	446
FAM131B	SLU7	O95391	432
FAM131B	GIT2	Q14161	421
FAM131B	MACF1	Q9UPN3	420
FAM131B	NF1	P21359	418
FAM131B	TMEM179	Q6ZVK1	396

IntAct

8 interactions, top by confidence:

A	B	Type	Score
FAM131B	AURKA	psi-mi:“MI:0914”(association)	0.530
TINF2	FAM131B	psi-mi:“MI:0915”(physical association)	0.510
ACD	FAM131B	psi-mi:“MI:0915”(physical association)	0.370
POT1	FAM131B	psi-mi:“MI:0915”(physical association)	0.370
ZNF785	CASK	psi-mi:“MI:0914”(association)	0.350
FAM131B	UQCRQ	psi-mi:“MI:0914”(association)	0.350
FAM131B	TINF2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (58): NCOA1 (Affinity Capture-MS), CBWD3 (Affinity Capture-MS), TOP2A (Affinity Capture-MS), GNPAT (Affinity Capture-MS), CDC6 (Affinity Capture-MS), UQCRH (Affinity Capture-MS), FAM208A (Affinity Capture-MS), FNTB (Affinity Capture-MS), AURKA (Affinity Capture-MS), UHRF1BP1 (Affinity Capture-MS), ARFGEF2 (Affinity Capture-MS), SLC25A16 (Affinity Capture-MS), MYO9B (Affinity Capture-MS), SLC25A15 (Affinity Capture-MS), NCAPH2 (Affinity Capture-MS)

ESM2 similar proteins: A0JNG6, A2AKB4, A7YWL5, B0BN13, O35181, O43734, O70142, O70240, O88286, O88566, P0DPB3, P0DPB4, P56975, P70298, P86174, P97303, Q00IB7, Q1LY51, Q2M3C6, Q2T9L4, Q3TY60, Q498S6, Q4V7B1, Q568Z1, Q5HZN9, Q5JTD0, Q5SYB0, Q5U5E5, Q5VT97, Q69ZB8, Q6PG95, Q6UXB0, Q6ZU67, Q76N89, Q80YE4, Q86XD5, Q8BWU3, Q8BZB3, Q8CD60, Q8N365

Diamond homologs: A0JNG6, Q3TY60, Q568Z1, Q6UXB0, Q86XD5, Q8BWU3, Q96AQ9

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	56
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
374131	NM_000083.3(CLCN1):c.2635C>T (p.Gln879Ter)	Pathogenic

SpliceAI

1219 predictions. Top by Δscore:

Variant	Effect	Δscore
7:143357278:A:AC	donor_gain	1.0000
7:143357278:AC:A	donor_gain	1.0000
7:143357279:C:CC	donor_gain	1.0000
7:143357279:CC:C	donor_gain	1.0000
7:143357297:T:TA	donor_gain	1.0000
7:143357424:C:CC	acceptor_gain	1.0000
7:143359431:A:AC	acceptor_gain	1.0000
7:143359730:A:AC	donor_gain	1.0000
7:143359731:C:CC	donor_gain	1.0000
7:143360034:TCTCA:T	donor_loss	1.0000
7:143360035:CTCA:C	donor_loss	1.0000
7:143360036:TCACC:T	donor_loss	1.0000
7:143360037:CACCT:C	donor_loss	1.0000
7:143360039:C:CT	donor_loss	1.0000
7:143360147:TCC:T	acceptor_gain	1.0000
7:143360148:CC:C	acceptor_gain	1.0000
7:143360148:CCC:C	acceptor_gain	1.0000
7:143360149:CC:C	acceptor_gain	1.0000
7:143360149:CCTGA:C	acceptor_loss	1.0000
7:143360150:C:CC	acceptor_gain	1.0000
7:143360150:C:T	acceptor_gain	1.0000
7:143360150:CTG:C	acceptor_loss	1.0000
7:143357020:CAT:C	acceptor_gain	0.9900
7:143357022:TC:T	acceptor_loss	0.9900
7:143357023:C:CC	acceptor_gain	0.9900
7:143357024:T:G	acceptor_loss	0.9900
7:143357274:TCTCA:T	donor_loss	0.9900
7:143357275:CTCAC:C	donor_loss	0.9900
7:143357276:TCA:T	donor_loss	0.9900
7:143357277:CAC:C	donor_loss	0.9900

AlphaMissense

2360 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:143357379:A:G	W143R	1.000
7:143357379:A:T	W143R	1.000
7:143357387:A:G	L140P	1.000
7:143357394:C:G	A138P	1.000
7:143357400:A:G	S136P	1.000
7:143357406:C:G	A134P	1.000
7:143357407:A:C	F133L	1.000
7:143357407:A:T	F133L	1.000
7:143357408:A:C	F133C	1.000
7:143357408:A:G	F133S	1.000
7:143357409:A:G	F133L	1.000
7:143357420:A:T	V129D	1.000
7:143358832:A:G	L126P	1.000
7:143358835:A:G	F125S	1.000
7:143358838:C:G	R124P	1.000
7:143358842:C:G	A123P	1.000
7:143358862:A:G	L116P	1.000
7:143358945:C:A	W88C	1.000
7:143358945:C:G	W88C	1.000
7:143358946:C:G	W88S	1.000
7:143358947:A:G	W88R	1.000
7:143358947:A:T	W88R	1.000
7:143358952:A:C	I86S	1.000
7:143358952:A:T	I86N	1.000
7:143358959:G:C	H84D	1.000
7:143359343:G:T	A56D	1.000
7:143359346:A:G	L55P	1.000
7:143359346:A:T	L55Q	1.000
7:143359746:A:G	W26R	1.000
7:143359746:A:T	W26R	1.000

dbSNP variants (sampled 300 via entrez): RS1000019148 (7:143381249 T>C), RS1000104340 (7:143356268 G>A,C,T), RS1000163934 (7:143367826 G>A), RS1000185995 (7:143366181 C>A), RS1000211478 (7:143358625 A>G), RS1000217402 (7:143373257 C>A), RS1000317915 (7:143366509 T>A,G), RS1000373968 (7:143361909 TCTC>T), RS1000439325 (7:143352934 C>A), RS1000520730 (7:143364672 A>G), RS1000596334 (7:143369698 C>A,G,T), RS1000656515 (7:143365013 C>T), RS1000690998 (7:143362718 G>A,C,T), RS1000709934 (7:143357746 C>T), RS1000786254 (7:143376966 C>A)

Disease associations

OMIM: gene MIM:619282 | disease phenotypes: MIM:160800, MIM:255700

GenCC curated gene-disease

Mondo (2): myotonia congenita, autosomal dominant (MONDO:0008055), myotonia congenita, autosomal recessive (MONDO:0009715)

Orphanet (1): Thomsen and Becker disease (Orphanet:614)

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

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases expression, increases methylation	7
trichostatin A	affects cotreatment, decreases expression	3
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tretinoin	decreases expression, increases expression	2
GSK-J4	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
3,4,5,3’,4’-pentachlorobiphenyl	decreases expression	1
perfluorooctanoic acid	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	increases expression, affects cotreatment, decreases expression, affects response to substance	1
di-n-butylphosphoric acid	affects 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	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
NSC 689534	affects binding, decreases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Calcitriol	increases expression, affects cotreatment	1
Copper	affects binding, decreases expression	1
Estradiol	increases expression	1
Folic Acid	decreases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression, affects cotreatment	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	increases expression	1
Testosterone	affects cotreatment, increases expression, decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Acrylamide	decreases expression	1
Particulate Matter	increases expression	1

Clinical trials (associated diseases)

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