HGNC:4659, ENTREZ:2969

GTF2I

ENSG00000263001

released

WBSCR6, general transcription factor II-I, GTFII-I, BTK-associated protein, 135kD, Bruton tyrosine kinase-associated protein 135, SPIN, SRF-Phox1-interacting protein, Williams-Beuren syndrome chromosome region 6, WBS, BAP135, BTKAP1, IB291, TFII-I, DIWS

GTF2I (Homo sapiens)

fb17e5a9-6a01-4e7c-b9f4-955ec53b2887

ENTREZ:7458, HGNC:12741

EIF4H

ENSG00000106682

released

WBSCR1, Williams-Beuren syndrome chromosome region 1, eukaryotic translation initiation factor 4H, WSCR1, eIF-4H

EIF4H (Homo sapiens)

e3095e72-a87b-4674-9735-0f996f93ff49

HGNC:19068, ENTREZ:155368

METTL27

ENSG00000165171

released

WBSCR27, Williams Beuren syndrome chromosome region 27, methyltransferase-like protein 27, williams-Beuren syndrome chromosomal region 27 protein

METTL27 (Homo sapiens)

d304978a-921a-45ae-a6d5-950c5376cfb4

HGNC:4047, ENTREZ:8326

FZD9

ENSG00000188763

released

frizzled homolog 9, frizzled family receptor 9, CD349, FZD3, hFz9, frizzled 9, seven transmembrane spanning receptor, fzE6, frizzled-9, fz-9

FZD9 (Homo sapiens)

cfd3f88b-3028-4663-9bc5-bba37f6844ca

HGNC:1005, ENTREZ:9275

BCL7B

ENSG00000106635

released

B-cell CLL/lymphoma 7B, SMARCJ2, BCL7B, BAF complex component, B-cell CLL/lymphoma 7 protein family member B, BCL tumor suppressor 7B

BCL7B (Homo sapiens)

c6836b11-b9e1-4442-bbc3-d9ce7dba9c9c

HGNC:12744, ENTREZ:51085

MLXIPL

ENSG00000009950

released

Mlx interactor, WS basic-helix-loop-helix leucine zipper protein, MLX, MONDOB, Williams Beuren syndrome chromosome region 14, class D basic helix-loop-helix protein 14, williams-Beuren syndrome chromosomal region 14 protein, carbohydrate response element binding protein, Williams-Beuren syndrome chromosome region 14 protein 1, carbohydrate-responsive element-binding protein, Williams-Beuren syndrome chromosome region 14 protein 3, WBSCR14, WS-bHLH, MIO, bHLHd14, Williams-Beuren syndrome chromosome region 14 protein 2, CHREBP

MLXIPL (Homo sapiens)

b83cc9f1-2fe0-44d4-8fde-853214443f21

HGNC:3722, ENTREZ:8468

FKBP6

ENSG00000077800

released

FK506-binding protein 6, rotamase, SPGF77, immunophilin FKBP36, FKBP36, 36 kDa FKBP, FKBP prolyl isomerase 6, FK506 binding protein 6, 36kDa, inactive peptidyl-prolyl cis-trans isomerase FKBP6, inactive PPIase FKBP6, peptidyl-prolyl cis-trans isomerase FKBP6, PPIase FKBP6

FKBP6 (Homo sapiens)

b0311d04-aca8-447d-a5b3-3eac622ccc58

HGNC:2046, ENTREZ:1364

CLDN4

ENSG00000189143

released

CPER, Clostridium perfringens enterotoxin receptor 1, hCPE-R, CPE-receptor, Williams-Beuren syndrome chromosomal region 8 protein, CPETR, WBSCR8, CPETR1, CPE-R, claudin-4

CLDN4 (Homo sapiens)

9a87de91-9d7f-4f6b-baf5-72cfcdbc234f

HGNC:18287, ENTREZ:155382

VPS37D

ENSG00000176428

released

vacuolar protein sorting 37D, williams-Beuren syndrome chromosomal region 24 protein, ESCRT-I complex subunit VPS37D, WBSCR24, williams-Beuren syndrome region protein 24, vacuolar protein sorting-associated protein 37D, Williams-Beuren syndrome critical region protein 24, vacuolar protein sorting 37 homolog D, Williams Beuren syndrome chromosome region 24, VPS37D, ESCRT-I subunit

VPS37D (Homo sapiens)

9853eb0b-70be-40f8-9194-58c88a41cb48

HGNC:2045, ENTREZ:1365

CLDN3

ENSG00000165215

released

claudin-3, Clostridium perfringens enterotoxin receptor 2, CPE-R2, HRVP1, CPE-receptor 2, RVP1, CPE-R 2, ventral prostate.1 protein homolog, C7orf1, ventral prostate.1-like protein, CPETR2

CLDN3 (Homo sapiens)

8e2dd5ab-576c-4369-bec7-9637c77462e2

HGNC:11433, ENTREZ:6804

STX1A

ENSG00000106089

released

HPC-1, STX1, neuron-specific antigen HPC-1, SYN1A, P35-1, syntaxin-1A, syntaxin 1A (brain)

STX1A (Homo sapiens)

892a75c0-3d4b-4e24-bff4-03422934246b

HGNC:16410, ENTREZ:84277

DNAJC30

ENSG00000176410

released

WBSCR18, MC1DN38, DnaJ (Hsp40) homolog, subfamily C, member 30, Williams Beuren syndrome chromosome region 18, williams-Beuren syndrome chromosomal region 18 protein, dnaJ homolog subfamily C member 30, mitochondrial, LHONAR

DNAJC30 (Homo sapiens)

8272b87d-7541-46d8-aecd-42801040baa2

ENTREZ:7461, HGNC:2586

CLIP2

ENSG00000106665

released

cytoplasmic linker protein 115, Williams-Beuren syndrome chromosome region 4, williams-Beuren syndrome chromosomal region 3 protein, CAP-Gly domain-containing linker protein 2, testicular tissue protein Li 40, CLIP-115, williams-Beuren syndrome chromosomal region 4 protein, Williams-Beuren syndrome chromosome region 3, WSCR4, WBSCR3, WBSCR4, CLIP, cytoplasmic linker 2, cytoplasmic linker protein 2, CYLN2, WSCR3

CLIP2 (Homo sapiens)

786f48d9-ba65-46bb-9ba8-7ec1a334f383

ENTREZ:5982, HGNC:9970

RFC2

ENSG00000049541

released

replication factor C (activator 1) 2, 40kDa, A1 40 kDa subunit, replication factor C subunit 2, RF-C 40 kDa subunit, RFC40, activator 1 subunit 2

RFC2 (Homo sapiens)

76a7e598-6f14-4270-a530-4014b1f203e9

HGNC:6613, ENTREZ:3984

LIMK1

ENSG00000106683

released

LIMK-1, LIM motif-containing protein kinase, LIMK, LIM domain kinase 1

LIMK1 (Homo sapiens)

5d4a7338-7c89-4094-855b-80b47af7e596

ENTREZ:83451, HGNC:16407

ABHD11

ENSG00000106077

released

Williams Beuren syndrome chromosome region 21, protein ABHD11, PP1226, alpha/beta hydrolase domain-containing protein 11, abhydrolase domain-containing protein 11, WBSCR21

ABHD11 (Homo sapiens)

5504a113-b2af-4a45-aa2e-47078481fe11

ENTREZ:135886, HGNC:23018

TMEM270

ENSG00000175877

released

WBSCR28, williams-Beuren syndrome chromosomal region 28 protein, Williams-Beuren syndrome chromosome region 28, transmembrane protein 270, Williams-Beuren syndrome critical region 28

TMEM270 (Homo sapiens)

44b2d7a5-d24a-45fe-a546-0013e174fb72

HGNC:11586, ENTREZ:26608

TBL2

ENSG00000106638

released

WBSCR13, WS beta-transducin repeats protein, Williams-Beuren syndrome chromosome region 13, transducin beta-like protein 2, epididymis secretory sperm binding protein, WS-betaTRP, transducin -like 2

TBL2 (Homo sapiens)

29a2d4d8-f529-4bdd-b0bf-4c5e7c17ee26

ENTREZ:9031, HGNC:961

BAZ1B

ENSG00000009954

released

williams-Beuren syndrome chromosomal region 9 protein, WBSCR9, WSTF, hWALp2, tyrosine-protein kinase BAZ1B, transcription factor WSTF, WBSCR10, williams syndrome transcription factor, williams-Beuren syndrome chromosomal region 10 protein

BAZ1B (Homo sapiens)

1ee74dd2-8437-4637-8c84-a130bdd893cf

ENTREZ:9569, HGNC:4661

GTF2IRD1

ENSG00000006704

released

hMusTRD1alpha1, muscle TFII-I repeat domain-containing protein 1 alpha 1, slow-muscle-fiber enhancer-binding protein, GTF3, general transcription factor II-I repeat domain-containing protein 1, RBAP2, WBSCR12, Williams-Beuren syndrome chromosome region 11, WBSCR11, general transcription factor 3, CREAM1, binding factor for early enhancer, USE B1-binding protein, williams-Beuren syndrome chromosomal region 12 protein, MUSTRD1, BEN, general transcription factor III, WBS

GTF2IRD1 (Homo sapiens)

1e8ff28f-3a2d-43cd-aa82-a3d7006d4be9

ENTREZ:7462, HGNC:12749

LAT2

ENSG00000086730

released

linker for activation of B-cells, linker for activation of T cells, transmembrane adaptor 2, Williams-Beuren syndrome chromosomal region 5 protein, linker for activation of T-cells family member 2, HSPC046, Williams-Beuren syndrome chromosomal region 15 protein, WBSCR5, NTAL, WSCR5, LAB, WBSCR15, non-T-cell activation linker, membrane-associated adapter molecule

LAT2 (Homo sapiens)

1c65c136-4470-4d41-bad0-5f1ebcfbab75

HGNC:3327, ENTREZ:2006

ELN

ENSG00000049540

released

SVAS, WS, WBS, elastin, tropoelastin, ADCL1

ELN (Homo sapiens)

0e4e1e80-d5c1-4c00-9d31-450813aafe53

HGNC:16405, ENTREZ:114049

BUD23

ENSG00000071462

released

probable 18S rRNA (guanine-N(7))-methyltransferase, rRNA methyltransferase and ribosome maturation factor, Williams-Beuren syndrome chromosomal region 22 protein, HUSSY-3, ribosome biogenesis methyltransferase WBSCR22, metastasis-related methyltransferase 1, Williams-Beuren syndrome chromosome region 22, WBSCR22, HASJ4442, PP3381, MERM1, Williams-Beuren candidate region putative methyltransferase, WBMT, bud site selection protein 23 homolog

BUD23 (Homo sapiens)

0d9f9dae-4b8c-4be1-aa20-44949417c413