2q37.3 Copy Number Variation - CNVPathwayAtlas

2q37.3 Copy Number Variation

Description

The 2q37 copy number variation syndrome can result in the loss of up to 78 protein-coding genes. Patients with 2q37 CNV syndrome have intellectual disability, facial dysmorphism and skeletal and digit malformations (Sakai et al., 2014; López-Uriarte et al., 2013). Research linked changes in HDAC4 gene with obesity of 2q37 patients (López-Uriarte et al., 2013). Chromosomal locations are from Kirov et al. 2014, and the larger one from Sakai et al., 2014.

Genomic location

Assembly:

Coordinates:

Disorder Information from Orphanet

ORPHA:1001 Microdeletion syndrome
OMIM: 600430
Prevalence: <1 / 1 000 000
Definition:

A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5, short stature, obesity, hypotonia, specific facial dysmorphism, abnormal behavior, autism or autism spectrum disorder, joint hypermobility/dislocation, and scoliosis.

Phenotypic features:
Obligate
(100%)		 Very frequent
(99–80%)		 Frequent
(79–30%)		 Occasional
(29–5%)		 Very rare
(<4-1%)		 Excluded
(0%)
- - -

Molecular pathway

View on WikiPathways

Gene Information

HGNC Gene Name NCBI Ensembl UniProt
TWIST2 twist family bHLH transcription factor 2 117581 ENSG00000233608 Q8WVJ9
HDAC4 histone deacetylase 4 9759 ENSG00000068024 P56524
NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 4705 ENSG00000130414 O95299
OR6B2 olfactory receptor family 6 subfamily B member 2 389090 ENSG00000182083 Q6IFH4
PRR21 proline rich 21 643905
OR6B3 olfactory receptor family 6 subfamily B member 3 150681 ENSG00000178586 Q8NGW1
COPS9 COP9 signalosome subunit 9 150678 ENSG00000172428 Q8WXC6
OTOS otospiralin 150677 ENSG00000178602 Q8NHW6
GPC1 glypican 1 2817 ENSG00000063660 P35052
GPC1-AS1 GPC1 antisense RNA 1 100130449 ENSG00000218416
ANKMY1 ankyrin repeat and MYND domain containing 1 51281 ENSG00000144504 Q9P2S6
DUSP28 dual specificity phosphatase 28 285193 ENSG00000188542 Q4G0W2
RNPEPL1 arginyl aminopeptidase like 1 57140 ENSG00000142327 Q9HAU8
CAPN10 calpain 10 11132 ENSG00000142330 Q9HC96
GPR35 G protein-coupled receptor 35 2859 ENSG00000178623 Q9HC97
AQP12B aquaporin 12B 653437 ENSG00000185176 A6NM10
AQP12A aquaporin 12A 375318 ENSG00000184945 Q8IXF9
KIF1A kinesin family member 1A 547 ENSG00000130294 Q12756
AGXT alanine--glyoxylate aminotransferase 189 ENSG00000172482 P21549
MAB21L4 mab-21 like 4 79919 ENSG00000172478 Q08AI8
CROCC2 ciliary rootlet coiled-coil, rootletin family member 2 728763 ENSG00000226321 H7BZ55
SNED1 sushi, nidogen and EGF like domains 1 25992 ENSG00000162804 Q8TER0
MTERF4 mitochondrial transcription termination factor 4 130916 ENSG00000122085 Q7Z6M4
PASK PAS domain containing serine/threonine kinase 23178 ENSG00000115687 Q96RG2
PPP1R7 protein phosphatase 1 regulatory subunit 7 5510 ENSG00000115685 Q15435
ANO7 anoctamin 7 50636 ENSG00000146205 Q6IWH7
HDLBP high density lipoprotein binding protein 3069 ENSG00000115677 Q00341
SEPTIN2 septin 2 4735 ENSG00000168385 Q15019
FARP2 FERM, ARH/RhoGEF and pleckstrin domain protein 2 9855 ENSG00000006607 O94887
STK25 serine/threonine kinase 25 10494 ENSG00000115694 O00506
BOK BCL2 family apoptosis regulator BOK 666 ENSG00000176720 Q9UMX3
THAP4 THAP domain containing 4 51078 ENSG00000176946 Q8WY91
ATG4B autophagy related 4B cysteine peptidase 23192 ENSG00000168397 Q9Y4P1
DTYMK deoxythymidylate kinase 1841 ENSG00000168393 P23919
ING5 inhibitor of growth family member 5 84289 ENSG00000168395 Q8WYH8
D2HGDH D-2-hydroxyglutarate dehydrogenase 728294 ENSG00000180902 Q8N465
GAL3ST2 galactose-3-O-sulfotransferase 2 64090 ENSG00000154252 Q9H3Q3
NEU4 neuraminidase 4 129807 ENSG00000204099 Q8WWR8
PDCD1 programmed cell death 1 5133 ENSG00000188389 Q15116
RTP5 receptor transporter protein 5 (putative) 285093 ENSG00000188011 Q14D33

Evidence